Insulin-like Growth Factor I, Resistance To; Igf1res

Description

Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

Clinical Features

Top most frequent phenotypes and symptoms related to Insulin-like Growth Factor I, Resistance To; Igf1res

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Strabismus
  • Failure to thrive
And another 70 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Insulin-like Growth Factor I, Resistance To; Igf1res Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Growth retardation due to IGF1 resistance (sequence analysis of IGF1R gene).

By CGC Genetics in Portugal.

IGF1R
Specificity
100 %
Genes
100 %
Insulin-like growth factor I, resistance to.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

IGF1R
Specificity
100 %
Genes
100 %
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to Comprehensive panel.

By Connective Tissue Gene Tests in United States.

IGF1, IGF1R
Specificity
50 %
Genes
100 %
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

IGF1, IGF1R
Specificity
50 %
Genes
100 %
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to NGS panel.

By Connective Tissue Gene Tests in United States.

IGF1, IGF1R
Specificity
50 %
Genes
100 %
Short stature with endocrinopathy NGS panel.

By Connective Tissue Gene Tests in United States.

OTX2, HESX1, PROP1, BTK, GHRHR, POU1F1, GH1, GHR, SOX3, LHX4, LHX3, IGF1, IGF1R, GHSR
Specificity
8 %
Genes
100 %
Short stature with endocrinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

OTX2, HESX1, PROP1, BTK, GHRHR, POU1F1, GH1, GHR, SOX3, LHX4, LHX3, IGF1, IGF1R, GHSR
Specificity
8 %
Genes
100 %
Short stature with endocrinopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

OTX2, HESX1, PROP1, BTK, GHRHR, POU1F1, GH1, GHR, SOX3, LHX4, LHX3, IGF1, IGF1R, GHSR
Specificity
8 %
Genes
100 %
Insulin-like growth factor I, resistance to.

By Centogene AG - the Rare Disease Company in Germany.

IGF1R
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PITX2, RAF1, SOX2, HESX1, BLM, CREBBP, DHCR7, KRAS, PTPN11, SOS1, SMC3, SMC1A, NIPBL, NBN, PROP1, BTK, GHRHR, SHOX, POU1F1, GH1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
IGF1R.

By Fulgent Genetics Fulgent Genetics in United States.

IGF1R
Specificity
100 %
Genes
100 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

BCS1L, PITX2, OTX2, RAF1, SOX2, HESX1, FGFR3, BRAF, CREBBP, DHCR7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, HDAC8, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
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
100 %
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 %
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
100 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE.

By Laboratorio de Genetica Clinica SL in Spain.

IGF1R
Specificity
100 %
Genes
100 %
Growth delay due to IGF-I resistance , Sequencing IGF1R Gene.

By Reference Laboratory Genetics in Spain.

IGF1R
Specificity
100 %
Genes
100 %
Growth delay due to IGF-I resistance , Deletions-Duplications (MLPA) IGF1R Gene.

By Reference Laboratory Genetics in Spain.

IGF1R
Specificity
100 %
Genes
100 %
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
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 %

Alternate names

Insulin-like Growth Factor I, Resistance To; Igf1res Is also known as somatomedin, end-organ insensitivity to, somatomedin-c, resistance to, igf-i resistance;resistance to igf-1.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTHEMIA 1; THCYT1 CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE; HMAG CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S AARSKOG-SCOTT SYNDROME SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI