Insulin-like Growth Factor I Deficiency

Description

Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

Clinical Features

Top most frequent phenotypes and symptoms related to Insulin-like Growth Factor I Deficiency

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Failure to thrive
  • Sensorineural hearing impairment
  • Motor delay
And another 40 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Insulin-like Growth Factor I Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
IGF1. Complete sequencing.

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

IGF1
Specificity
100 %
Genes
100 %
Insulin-Like Growth Factor I Deficiency (deletion/duplication anaysis of IGF1 gene).

By CGC Genetics in Portugal.

IGF1
Specificity
100 %
Genes
100 %
Growth retardation due to IGF1 deficiency (sequence analysis of IGF1 gene).

By CGC Genetics in Portugal.

IGF1
Specificity
100 %
Genes
100 %
Growth retardation with deafness and mental retardation due to IGF1 deficiency.

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

IGF1
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 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Growth retardation with deafness and mental retardation due to IGF1 deficiency.

By Centogene AG - the Rare Disease Company in Germany.

IGF1
Specificity
100 %
Genes
100 %
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
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 %
IGF1.

By Fulgent Genetics Fulgent Genetics in United States.

IGF1
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 %
Insulin-like growth factor I deficiency.

By Bioarray in Spain.

IGF1
Specificity
100 %
Genes
100 %
Insulin Growth Factor I Deficiency, Sequencing IGF1 Gene.

By Reference Laboratory Genetics in Spain.

IGF1
Specificity
100 %
Genes
100 %
Insulin Growth Factor I Deficiency, Deletions-Duplications (MLPA) IGF1 Gene.

By Reference Laboratory Genetics in Spain.

IGF1
Specificity
100 %
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 Deficiency Is also known as igf1 deficiency, growth retardation with sensorineural deafness and mental retardation;growth delay-deafness- intellectual disability syndrome; igf-1 deficiency; primary insulin-like growth factor deficiency.



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