Myofibromatosis, Infantile, 1; Imf1

Description

Infantile myofibromatosis is a rare mesenchymal disorder characterized by the onset of nodules in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about 50% of patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life (summary by Arcangeli and Calista, 2006). Genetic Heterogeneity of Infantile MyofibromatosisSee also IMF2 (OMIM ), caused by mutation in the NOTCH3 gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Myofibromatosis, Infantile, 1; Imf1

  • Neoplasm
  • Tics
  • Depressivity
  • Abnormality of the eye
  • Abnormality of the kidney
  • Acrania
  • Limitation of joint mobility
  • Abnormality of the metaphysis
  • Subcutaneous nodule
  • Abnormality of the face
And another 30 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Myofibromatosis, Infantile, 1; Imf1 have a estimated birth prevalence of 0.67 per 100k worldwide.


Mendelian

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Myofibromatosis, Infantile, 1; Imf1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Complete CASASIL Evaluation.

By Athena Diagnostics Inc in United States.

NOTCH3
Specificity
100 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine.

By Athena Diagnostics Inc in United States.

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2, PRRT2
Specificity
15 %
Genes
50 %
NOTCH3 (CADASIL) Sequencing Test.

By Athena Diagnostics Inc in United States.

NOTCH3
Specificity
100 %
Genes
50 %
Cadasil (NOTCH3).

By Center for Human Genetics, Inc in United States.

NOTCH3
Specificity
100 %
Genes
50 %
Migraine and Strokes Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2, COL4A1, HTRA1
Specificity
13 %
Genes
50 %
CADASIL.

By Institute of Human Genetics Universitätsmedizin Greifswald in Germany.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

NOTCH3
Specificity
100 %
Genes
50 %
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

NOTCH3
Specificity
100 %
Genes
50 %
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY.

By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR in Italy.

NOTCH3
Specificity
100 %
Genes
50 %
NOTCH3. Sequencing of the exons 3 and 4.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NOTCH3
Specificity
100 %
Genes
50 %
NOTCH3. Sequencing of the exons 2, 5, 6 and 11.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NOTCH3
Specificity
100 %
Genes
50 %
NOTCH3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL (NOTCH3) Sequencing.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL (sequence analysis of exons 2 to 6 and 11 of NOTCH3 gene).

By CGC Genetics in Portugal.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL (sequence analysis of 1, 7-10, 12-33 exons of NOTCH3 gene).

By CGC Genetics in Portugal.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL (sequence analysis of NOTCH3 gene).

By CGC Genetics in Portugal.

NOTCH3
Specificity
100 %
Genes
50 %
Hereditary dementias (NGS panel for 28 genes).

By CGC Genetics in Portugal.

TYROBP, APP, PSEN1, VCP, GRN, TIMM8A, SNCB, PSEN2, MAPT, APOE, NOTCH3, SNCA, FUS, CHMP2B, TARDBP, UBQLN2, ATP13A2, DNMT1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %
Infantile myofibromatosis 2 (sequence analysis of NOTCH3 gene).

By CGC Genetics in Portugal.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL (deletion/duplication analysis of NOTCH3 gene).

By CGC Genetics in Portugal.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL (deletion/duplication analysis of NOTCH3 gene).

By CGC Genetics in Portugal.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL.

By Exeter Molecular Genetics Laboratory in United Kingdom.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL1 via the NOTCH3 Gene.

By PreventionGenetics PreventionGenetics in United States.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL and CARASIL Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NOTCH3, HTRA1
Specificity
50 %
Genes
50 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
50 %
Infantile Myofibromatosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NOTCH3, PDGFRB
Specificity
100 %
Genes
100 %
Cerebral small vessel disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, CTC1, COL4A2
Specificity
15 %
Genes
50 %
CADASIL Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

NOTCH3, HTRA1
Specificity
50 %
Genes
50 %
CADASIL Comprehensive panel.

By Connective Tissue Gene Tests in United States.

NOTCH3, HTRA1
Specificity
50 %
Genes
50 %
Cerebral small vessel disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, CTC1, COL4A2
Specificity
15 %
Genes
50 %
CADASIL NGS panel.

By Connective Tissue Gene Tests in United States.

NOTCH3, HTRA1
Specificity
50 %
Genes
50 %
Cerebral small vessel disease NGS panel.

By Connective Tissue Gene Tests in United States.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, CTC1, COL4A2
Specificity
15 %
Genes
50 %
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1 NGS test.

By Connective Tissue Gene Tests in United States.

NOTCH3
Specificity
100 %
Genes
50 %
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1 Comprehensive test.

By Connective Tissue Gene Tests in United States.

NOTCH3
Specificity
100 %
Genes
50 %
Lateral meningocele syndrome NGS test.

By Connective Tissue Gene Tests in United States.

NOTCH3
Specificity
100 %
Genes
50 %
Lateral meningocele syndrome Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

NOTCH3
Specificity
100 %
Genes
50 %
Lateral meningocele syndrome Comprehensive test.

By Connective Tissue Gene Tests in United States.

NOTCH3
Specificity
100 %
Genes
50 %
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1 Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

NOTCH3
Specificity
100 %
Genes
50 %
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy.

By MGZ Medical Genetics Center in Germany.

NOTCH3
Specificity
100 %
Genes
50 %
Pulmonary diseases - panels.

By MGZ Medical Genetics Center in Germany.

ELN, SARS2, CFTR, ENG, NOTCH3, CAV3, COL4A1, NOTCH1, ACVRL1, BMPR1B, CCNO, DNAAF4, KCNK3, CAV1, SMAD9, DNAAF3, DNAAF1, RSPH9, RSPH4A, DNAAF2 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AGL, B4GALT7, ADSL, COL1A1, COL1A2, COL3A1, AMACR, POLG, AFG3L2, FBN1, AGK, SLC39A13, COQ8A, OTC, AIFM1, CBS, COL5A1, COL5A2, GLA , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
50 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
50 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
50 %
Teenager Stroke / Stroke-Like Episodes.

By MGZ Medical Genetics Center in Germany.

TTR, COL3A1, AMACR, POLG, FBN1, OTC, CBS, GLA, NOTCH3, COL4A1, FLNA, TREX1, HTRA1, CACNA1C, TGFB2, TGFBR1, TGFBR2, SLC2A10, ABCC6, ADA2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
CADASIL.

By Bioscientia GmbH Center for Human Genetics in Germany.

NOTCH3
Specificity
100 %
Genes
50 %
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL.

By Centogene AG - the Rare Disease Company in Germany.

NOTCH3
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
CADASIL.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

NOTCH3
Specificity
100 %
Genes
50 %
Leukodystrophy / Leukencephalopathy Panel.

By CeGaT GmbH in Germany.

PSAP, HSPD1, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1, SAMHD1, RNASEH2A , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Leukodystrophy and Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

PSAP, HSPD1, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1, SAMHD1, RNASEH2A , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Migraine Panel.

By CeGaT GmbH in Germany.

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, SLC1A3, ATP1A2, ATP1A3, PRRT2, KCNK18
Specificity
10 %
Genes
50 %
Frontotemporal Dementia (FTD) Panel.

By CeGaT GmbH in Germany.

PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, C9orf72, NOTCH3, ATXN2, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2, TBK1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
50 %
Small vessel disease Panel.

By CeGaT GmbH in Germany.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, CTC1
Specificity
17 %
Genes
50 %
Dementia all Panel.

By CeGaT GmbH in Germany.

APP, PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, APOE, C9orf72, NOTCH3, ATXN2, TBP, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
Single gene testing NOTCH3.

By CeGaT GmbH in Germany.

NOTCH3
Specificity
100 %
Genes
50 %
Leukodystrophy / Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

AARS2, TYROBP, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, ALDH3A2, ACOX1, GALC, L2HGDH, GBE1, GCDH, CYP27A1, ARSA, ASPA, EIF2B1, GJC2, PLP1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
50 %
Cerebral small vessel disease.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, COL4A2
Specificity
17 %
Genes
50 %
CADASIL, NOTCH3.

By GGA - Galil Genetic Analysis in Israel.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL, NOTCH3.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

NOTCH3
Specificity
100 %
Genes
50 %
Leukodystrophy and Leukoencephalopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

PSAP, HSPD1, SCP2, DARS2, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
CADASIL, NOTCH3 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

NOTCH3
Specificity
100 %
Genes
50 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
50 %
Pulmonary Hypertension Panel.

By Health in Code in Spain.

SMAD4, ENG, NOTCH3, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, SMAD1
Specificity
9 %
Genes
50 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
50 %
Pulmonary hypertension Panel.

By Health in Code in Spain.

FOXF1, SMAD4, ENG, NOTCH3, RASA1, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, EIF2AK4, SMAD1, TOPBP1
Specificity
7 %
Genes
50 %
Test for CADASIL.

By Secugen SL in Spain.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL.

By Praxis fuer Humangenetik Wien in Austria.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL.

By MedGene in Slovakia.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL syndrome: NOTCH3 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL syndrome: NOTCH3 gene sequence analysis (exons 2, 5, 6, 11).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL syndrome: NOTCH3 gene sequence analysis (exons 3-4).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL syndrome: NOTCH3 gene deletions-duplications analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NOTCH3
Specificity
100 %
Genes
50 %
MIGRAINE.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2
Specificity
17 %
Genes
50 %
Leukodistrophy.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TYROBP, BEST1, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, PHYH, SDHAF1, NDUFV1, GALC, CYP27A1, SDHA, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
50 %
NGS panel - dementia.

By Genome Diagnostics VU University Medical Center in Netherlands.

TYROBP, APP, PSEN1, OPTN, VCP, GRN, SQSTM1, SNCB, SOD1, NEFH, FIG4, PSEN2, MAPT, NOTCH3, SNCA, ALS2, SIGMAR1, FUS, SETX, CHMP2B , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
Leukoencephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PTEN, PSAP, HSPD1, SCP2, ABAT, SLC25A12, DARS2, ALDH3A2, ACOX1, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Hemiplegia/Stroke NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

POLG, OTC, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2, ATP1A3, COL4A1, COL4A2
Specificity
10 %
Genes
50 %
NOTCH3.

By Fulgent Genetics Fulgent Genetics in United States.

NOTCH3
Specificity
100 %
Genes
50 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
50 %
Leukodystrophy and Leukoencephalopathy Panel.

By Blueprint Genetics in Finland.

PSAP, HSPD1, FOXRED1, NFU1, TTC19, NUBPL, DARS2, GFM1, D2HGDH, AIFM1, ABCD1, ALDH3A2, COX15, SDHAF1, NDUFAF5, HIBCH, GALC, L2HGDH, COX6B1, CYP27A1 , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
50 %
Migraine Panel.

By Blueprint Genetics in Finland.

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, SLC1A3, ATP1A2, ATP1A3, PRRT2, KCNK18
Specificity
10 %
Genes
50 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
50 %
CADASIL.

By Bioarray in Spain.

NOTCH3
Specificity
100 %
Genes
50 %
Next Generation Sequencing for FHM, EA2, SCA6, CADASIL, Epilepsy.

By Genomics Research Centre Diagnostics Clinic Queensland Unstitute of Technology in Australia.

SCN1A, NOTCH3, CACNA1A, ATP1A2
Specificity
25 %
Genes
50 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
100 %
CADASIL (CEREBRAL ARTERIOPATHY).

By Laboratorio de Genetica Clinica SL in Spain.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL Syndrome, Sequencing NOTCH3 Gene.

By Reference Laboratory Genetics in Spain.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL Syndrome, Sequencing Exons (3-4) NOTCH 3 Gene.

By Reference Laboratory Genetics in Spain.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL Syndrome, Sequencing Exons (2,5,6,11) NOTCH 3 Gene.

By Reference Laboratory Genetics in Spain.

NOTCH3
Specificity
100 %
Genes
50 %
CADASIL Syndrome, Deletions-Duplications (MLPA) NOTCH3 Gene.

By Reference Laboratory Genetics in Spain.

NOTCH3
Specificity
100 %
Genes
50 %
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes.

By Reference Laboratory Genetics in Spain.

TYROBP, BEST1, HSD17B4, PSAP, HSPD1, DARS2, ABCD1, PHYH, SDHAF1, NDUFV1, GALC, CYP27A1, SDHA, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2, PEX7 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
50 %
Familial Hemiplegic Migraine , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2
Specificity
17 %
Genes
50 %
CADASIL.

By Labor Dr. Wisplinghoff in Germany.

NOTCH3
Specificity
100 %
Genes
50 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Lateral Meningocele Syndrome (Lehman Syndrome): gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

NOTCH3
Specificity
100 %
Genes
50 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
50 %
PDGFRB. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PDGFRB
Specificity
100 %
Genes
50 %
Myeloproliferative disorder with eosinophilia (sequence analysis of PDGFRB gene).

By CGC Genetics in Portugal.

PDGFRB
Specificity
100 %
Genes
50 %
RT-PCR t(5;12) (TEL/PDGFRb).

By CGC Genetics in Portugal.

ETV6, PDGFRB
Specificity
50 %
Genes
50 %
Basal ganglia calcification, idiopathic 1 (sequence anaysis of PDGFRB gene).

By CGC Genetics in Portugal.

PDGFRB
Specificity
100 %
Genes
50 %
Detection by FISH of PDGFRB (5q32) rearrangements.

By CGC Genetics in Portugal.

PDGFRB
Specificity
100 %
Genes
50 %
Infantile myofibromatosis 1 (sequence analysis of PDGFRB gene).

By CGC Genetics in Portugal.

PDGFRB
Specificity
100 %
Genes
50 %
Idiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC20A2, PDGFRB, PDGFB, XPR1
Specificity
25 %
Genes
50 %
Infantile Neurofibromatosis and Idiopathic Basal Ganglia Calcification via the PDGFRB Gene.

By PreventionGenetics PreventionGenetics in United States.

PDGFRB
Specificity
100 %
Genes
50 %
Overgrowth syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

FBN1, NSD1, GPC3, SETD2, PIGA, OFD1, DNMT3A, NFIX, EZH2, PDGFRB, EED
Specificity
10 %
Genes
50 %
Overgrowth syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FBN1, NSD1, GPC3, SETD2, PIGA, OFD1, DNMT3A, NFIX, EZH2, PDGFRB, EED
Specificity
10 %
Genes
50 %
Overgrowth syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FBN1, NSD1, GPC3, SETD2, PIGA, OFD1, DNMT3A, NFIX, EZH2, PDGFRB, EED
Specificity
10 %
Genes
50 %
Progeroid syndromes and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Progeroid syndromes and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Progeroid syndromes and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Custom solid tumor gene sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

APC, PTEN, TP53, FOXL2, TYRP1, RET, RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, CDK4, CDKN2A, MET, NF1, GRIN2A, HGF, ERCC2, CTNNB1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, GNAT2, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
50 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

VHL, APC, MLH1, PTEN, TP53, RB1, RET, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, TSC1, ALK, ATM , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
50 %
Myeloproliferative disorder, chronic, with eosinophilia.

By Centogene AG - the Rare Disease Company in Germany.

PDGFRB
Specificity
100 %
Genes
50 %
Fluorescent in situ Hybridization - Hematopathology.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA in United States.

RUNX1, TP53, RB1, ATM, CDKN2A, FGFR1, KMT2A, IGH, JAK2, ABL1, PDGFRA, ETV6, BCR, RUNX1T1, PDGFRB, BCL2, PML, CBFB, RARA, TCF3 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Disorders associated with malignancy Panel.

By CeGaT GmbH in Germany.

MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, SDHB, BLM, TINF2, TSC2, TSC1, ATM, PTCH1, NF2, STK11, SDHD, FLCN, PRKAR1A, RTEL1, NF1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Basal ganglia calcification Panel.

By CeGaT GmbH in Germany.

TYROBP, POLG, PANK2, CA2, GALC, AIRE, BRAF, FOLR1, COL4A1, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, GFAP, GATA3, ERCC6, IFIH1, ADAR, CTC1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Platelets, Coagulation disorders Panel.

By CeGaT GmbH in Germany.

F2, F5, VHL, ENTPD1, F11, VWF, F8, ADAMTS13, SERPINE1, TET2, ETV6, PDGFRB, F10, F12, DSG1, F13A1, SERPINC1
Specificity
6 %
Genes
50 %
Fahr’s disease.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SLC20A2, PDGFRB, PDGFB
Specificity
34 %
Genes
50 %
Dystonia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
50 %
PDGFRB.

By Fulgent Genetics Fulgent Genetics in United States.

PDGFRB
Specificity
100 %
Genes
50 %
Onco microarray for ALL.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

TP53, RB1, CDKN2A, PAX5, JAK2, IKZF1, ETV6, PDGFRB, EBF1, BTG1
Specificity
10 %
Genes
50 %
Onco microarray for MDS/AML.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, ALK, GATA2, NF1, FUS, GATA1, DNMT3A, EZH2, TFG, TERT, KMT2A, KIT, ASXL1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %
Parkinson Disease Panel.

By Blueprint Genetics in Finland.

SPR, PARK7, PINK1, PRKN, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, ATP1A3, SYNJ1, ATP13A2, VPS13A, SLC20A2, FBXO7, SLC6A3, VPS35, PRKRA, PDGFRB , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Dystonia Panel.

By Blueprint Genetics in Finland.

SPR, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, FA2H, ATP1A3, PRRT2, DCAF17, PRKRA, PDGFRB, PDGFB, KMT2B, ANO3, BCAP31, GNAL, ADCY5
Specificity
5 %
Genes
50 %
Focus::Renal® NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

VHL, PTEN, TP53, RAF1, BRAF, TSC2, TSC1, ALK, PTCH1, MET, FGFR1, SETD2, KDM5C, MTOR, ARID1A, KIT, BAP1, PIK3CA, AKT2, FLT3 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Solid Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, PPARG, WT1, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, CREBBP, HRAS, KRAS , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
50 %
Hematopoietic Disorders Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

RUNX1, TP53, IDH2, BCOR, BRAF, CREBBP, KRAS, NRAS, PTPN11, CBL, NSD1, ATM, GATA2, PAX5, CEBPA, MPL, NF1, SETBP1, GATA3, GATA1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Melanoma Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

PTEN, TP53, RB1, RET, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, CDKN2A, MET, NF1, FGFR1, KMT2D, MED12 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
50 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
BILATERAL STRIOPALLIDODENTATE CALCINOSIS (BSPDC).

By Laboratorio de Genetica Clinica SL in Spain.

SLC20A2, PDGFRB, PDGFB
Specificity
34 %
Genes
50 %
Infantile Myofibromatosis Type 1 , Sequencing PDGFRB Gene.

By Reference Laboratory Genetics in Spain.

PDGFRB
Specificity
100 %
Genes
50 %
Fahr Disease , Panel massive Sequencing (NGS) (SLC20A2, PDGFRB, PDGFB) Genes.

By Reference Laboratory Genetics in Spain.

SLC20A2, PDGFRB, PDGFB
Specificity
34 %
Genes
50 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
50 %
Primary Familial Brain Calcification: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SLC20A2, PDGFRB, PDGFB, XPR1
Specificity
25 %
Genes
50 %

Alternate names

Myofibromatosis, Infantile, 1; Imf1 Is also known as myofibromatosis, juvenile, fibromatosis, congenital generalized;cgf;.


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