PDGFRB gene related symptoms and diseases
All the information presented here about the PDGFRB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PDGFRB gene
Symptoms // Phenotype | % Cases |
---|---|
Depressivity | Uncommon - Between 30% and 50% cases |
Scoliosis | Rare - less than 30% cases |
Pain | Rare - less than 30% cases |
Dementia | Rare - less than 30% cases |
Rigidity | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with PDGFRB gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Abnormal pyramidal sign
- Cognitive impairment
- Parkinsonism
- Cerebral calcification
- Bradykinesia
- Progressive neurologic deterioration
- Thin skin
- Basal ganglia calcification
And 189 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PDGFRB gene
Here you will find a list of rare diseases related to the PDGFRB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CHRONIC MYELOMONOCYTIC LEUKEMIA
Alternate names
CHRONIC MYELOMONOCYTIC LEUKEMIA Is also known as cmml
More info about CHRONIC MYELOMONOCYTIC LEUKEMIA
SOURCES: ORPHANET
INFANTILE MYOFIBROMATOSIS
Alternate names
INFANTILE MYOFIBROMATOSIS Is also known as myofibromatosis, juvenile, cgf, fibromatosis, congenital generalized
Description
Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts.
Most common symptoms of INFANTILE MYOFIBROMATOSIS
- Neoplasm
- Pain
- Abnormality of the kidney
- Abnormality of the eye
- Limitation of joint mobility
More info about INFANTILE MYOFIBROMATOSIS
ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME
Alternate names
ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type
Description
Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.
Most common symptoms of ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME
- Hearing impairment
- Scoliosis
- Hypertelorism
- Micrognathia
- Sensorineural hearing impairment
More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME
BILATERAL STRIOPALLIDODENTATE CALCINOSIS
Alternate names
BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis, primary familial brain calcification, ferrocalcinosis, cerebrovascular, pfbc, bspdc, striopallidodentate calcinosis, bilateral, cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset, basal ganglia calcification, id
Description
Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.
Most common symptoms of BILATERAL STRIOPALLIDODENTATE CALCINOSIS
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Ataxia
More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
Alternate names
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA Is also known as mpe, emp, eosinophils, malignant proliferation of
Most common symptoms of MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
- Eosinophilia
- Myeloproliferative disorder
- Malignant eosinophil proliferation
More info about MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4
Description
Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by Nicolas et al., 2013).For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM ).
Most common symptoms of BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4
- Nystagmus
- Cognitive impairment
- Depressivity
- Dementia
- Hyperactivity
More info about BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4
SOURCES: OMIM
SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME
Alternate names
SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME Is also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration, kosaki overgrowth syndrome
Description
Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015).
Most common symptoms of SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME
- Scoliosis
- Neoplasm
- Ptosis
- Depressed nasal bridge
- Wide nasal bridge
More info about SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME
MYELOID/LYMPHOID NEOPLASM ASSOCIATED WITH PDGFRB REARRANGEMENT
Description
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.
More info about MYELOID/LYMPHOID NEOPLASM ASSOCIATED WITH PDGFRB REARRANGEMENT
SOURCES: ORPHANET
PRIMARY HYPEREOSINOPHILIC SYNDROME
Alternate names
PRIMARY HYPEREOSINOPHILIC SYNDROME Is also known as neoplastic hypereosinophilic syndrome, hes-m, primary hes, hes-n, clonal hypereosinophilic syndrome
Most common symptoms of PRIMARY HYPEREOSINOPHILIC SYNDROME
- Anemia
- Splenomegaly
- Thrombocytopenia
- Leukemia
- Bone marrow hypocellularity
More info about PRIMARY HYPEREOSINOPHILIC SYNDROME
SOURCES: ORPHANET
CHRONIC MYELOPROLIFERATIVE DISEASE, UNCLASSIFIABLE
Alternate names
CHRONIC MYELOPROLIFERATIVE DISEASE, UNCLASSIFIABLE Is also known as cmpd-u, undifferentiated myeloproliferative disease
Description
Chronic myeloproliferative disease, unclassifiable is a hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.
More info about CHRONIC MYELOPROLIFERATIVE DISEASE, UNCLASSIFIABLE
SOURCES: ORPHANET
Search interest in PDGFRB
Potential gene panels for PDGFRB gene
Dystonia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panelPDGFRB. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PDGFRB gene.
More info about this panelMyeloproliferative disorder with eosinophilia (sequence analysis of PDGFRB gene) Panel
By CGC Genetics
This panel specifically test the PDGFRB gene.
More info about this panelRT-PCR t(5;12) (TEL/PDGFRb) Panel
By CGC Genetics RT-PCR t(5;12) (TEL/PDGFRb) that also includes the following genes: ETV6 PDGFRB
More info about this panelBasal ganglia calcification, idiopathic 1 (sequence anaysis of PDGFRB gene) Panel
By CGC Genetics
This panel specifically test the PDGFRB gene.
More info about this panelDetection by FISH of PDGFRB (5q32) rearrangements Panel
By CGC Genetics
This panel specifically test the PDGFRB gene.
More info about this panelInfantile myofibromatosis 1 (sequence analysis of PDGFRB gene) Panel
By CGC Genetics
This panel specifically test the PDGFRB gene.
More info about this panelIdiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Idiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 XPR1 PDGFB PDGFRB
More info about this panelInfantile Myofibromatosis and Idiopathic Basal Ganglia Calcification via PDGFRB Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the PDGFRB gene.
More info about this panelInfantile Myofibromatosis Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Infantile Myofibromatosis Sequencing Panel with CNV Detection that also includes the following genes: NOTCH3 PDGFRB
More info about this panelParkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK
More info about this panelOvergrowth syndrome NGS panel Panel
By Connective Tissue Gene Tests Overgrowth syndrome NGS panel that also includes the following genes: NSD1 SETD2 OFD1 DNMT3A EED EZH2 FBN1 GPC3 NFIX PDGFRB
More info about this panelOvergrowth syndrome Comprehensive panel Panel
By Connective Tissue Gene Tests Overgrowth syndrome Comprehensive panel that also includes the following genes: NSD1 SETD2 OFD1 DNMT3A EED EZH2 FBN1 GPC3 NFIX PDGFRB
More info about this panelOvergrowth syndrome Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Overgrowth syndrome Deletion / Duplication panel that also includes the following genes: NSD1 SETD2 OFD1 DNMT3A EED EZH2 FBN1 GPC3 NFIX PDGFRB
More info about this panelProgeroid syndromes and related disorders NGS panel Panel
By Connective Tissue Gene Tests Progeroid syndromes and related disorders NGS panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panelProgeroid syndromes and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Comprehensive panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panelProgeroid syndromes and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Deletion / Duplication panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panelCustom solid tumor gene sequencing panel Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom solid tumor gene sequencing panel that also includes the following genes: SF3B1 FOXL2 BRAF TP53 TYRP1 XPC CCND1 CDK4 CDK6 CDKN2A
More info about this panelCancer Hotspot Panel Panel
By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A
More info about this panelSolid Tumor Panel Panel
By Centogene AG - the Rare Disease Company Solid Tumor Panel that also includes the following genes: ROS1 BRAF SMARCA4 SMARCB1 ARID1A SMO STK11 TP53 TSC1 KDM6A
More info about this panelMyeloproliferative disorder, chronic, with eosinophilia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PDGFRB gene.
More info about this panelFluorescent in situ Hybridization - Hematopathology Panel
By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA Fluorescent in situ Hybridization - Hematopathology that also includes the following genes: BCL6 BCR RUNX1 ABI1 TCF3 TP53 DLEU1 CRLF2 RUNX1T1 CBFB
More info about this panelDisorders associated with malignancy Panel Panel
By CeGaT GmbH Disorders associated with malignancy Panel that also includes the following genes: BLM SDHB SDHD STK11 TERC TERT TINF2 TSC1 TSC2 XPA
More info about this panelBasal ganglia calcification Panel Panel
By CeGaT GmbH Basal ganglia calcification Panel that also includes the following genes: SLC20A2 BRAF TBCE TREX1 TYROBP XPR1 CA2 PANK2 SAMHD1 TREM2
More info about this panelPlatelets, Coagulation disorders Panel Panel
By CeGaT GmbH Platelets, Coagulation disorders Panel that also includes the following genes: VHL VWF ADAMTS13 TET2 DSG1 ENTPD1 ETV6 F10 F11 F12
More info about this panelFahr’s disease Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Fahr’s disease that also includes the following genes: SLC20A2 PDGFB PDGFRB
More info about this panelDystonia: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panelPDGFRB Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PDGFRB gene.
More info about this panelOnco microarray for ALL Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for ALL that also includes the following genes: BTG1 TP53 IKZF1 CDKN2A EBF1 ETV6 JAK2 PAX5 PDGFRB RB1
More info about this panelOnco microarray for MDS/AML Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for MDS/AML that also includes the following genes: BCR RPN1 RUNX1 SET TCF3 TERT TFG TP53 TRPS1 WT1
More info about this panelParkinson Disease Panel Panel
By Blueprint Genetics Parkinson Disease Panel that also includes the following genes: SLC20A2 SLC6A3 SNCA SPR SYNJ1 TH VPS35 FBXO7 PINK1 DNAJC6
More info about this panelDystonia Panel Panel
By Blueprint Genetics Dystonia Panel that also includes the following genes: SGCE SLC2A1 SPR TH ANO3 KMT2B BCAP31 THAP1 FA2H ADCY5
More info about this panelFocus::Renal® NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Renal® NGS Panel that also includes the following genes: RHEB ROS1 BRAF ARID1A KDM5C SMO TP53 TSC1 TSC2 VHL
More info about this panelSolid Tumor Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C
More info about this panelHematopoietic Disorders Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Hematopoietic Disorders Gene Set that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TERT TP53 U2AF1 KDM6A NSD1
More info about this panelMelanoma Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Melanoma Gene Set that also includes the following genes: ROS1 BRAF TERT MED12 TP53 KMT2C CCND1 CDK4 CDKN2A CTNNB1
More info about this panelFoundationOne® Heme Panel
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panelNeoTYPE® Discovery Profile for Solid Tumors Panel
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelBILATERAL STRIOPALLIDODENTATE CALCINOSIS (BSPDC) Panel
By Laboratorio de Genetica Clinica SL BILATERAL STRIOPALLIDODENTATE CALCINOSIS (BSPDC) that also includes the following genes: SLC20A2 PDGFB PDGFRB
More info about this panelProvidence Personalized Medicine Panel - Solid Tumor Panel
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panelInfantile Myofibromatosis Type 1 , Sequencing PDGFRB Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PDGFRB gene.
More info about this panelFahr Disease , Panel massive Sequencing (NGS) (SLC20A2, PDGFRB, PDGFB) Genes Panel
By Reference Laboratory Genetics Fahr Disease , Panel massive Sequencing (NGS) (SLC20A2, PDGFRB, PDGFB) Genes that also includes the following genes: SLC20A2 PDGFB PDGFRB
More info about this panel152 Integrated Advantage NGS Solid Tumor Panel Panel
By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panelPrimary Familial Brain Calcification: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Primary Familial Brain Calcification: gene sequencing panel that also includes the following genes: SLC20A2 XPR1 PDGFB PDGFRB
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