IGF1R gene related symptoms and diseases

All the information presented here about the IGF1R gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IGF1R gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Blue sclerae Very Common - Between 80% and 100% cases
Acanthosis nigricans Very Common - Between 80% and 100% cases
Sandal gap Very Common - Between 80% and 100% cases
Accelerated skeletal maturation Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with IGF1R gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Finger clinodactyly
  • Cafe-au-lait spot
  • Decreased body weight
  • Sparse scalp hair
  • Epidermal acanthosis
  • Patent foramen ovale
  • Type II diabetes mellitus
  • Wide intermamillary distance

And 73 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to IGF1R gene

Here you will find a list of rare diseases related to the IGF1R. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE


Alternate names

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance, resistance to igf-1, somatomedin, end-organ insensitivity to, somatomedin-c, resistance to

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).

Most common symptoms of GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

SOURCES: ORPHANET OMIM


Potential gene panels for IGF1R gene

Growth retardation due to IGF1 resistance (sequence analysis of IGF1R gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the IGF1R gene.

More info about this panel

Insulin-like growth factor I, resistance to Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the IGF1R gene.

More info about this panel

Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to Comprehensive panel that also includes the following genes: IGF1 IGF1R

More info about this panel

Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to Deletion / Duplication panel that also includes the following genes: IGF1 IGF1R

More info about this panel

Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to NGS panel Panel

United States.

By Connective Tissue Gene Tests Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to NGS panel that also includes the following genes: IGF1 IGF1R

More info about this panel

Short stature with endocrinopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Short stature with endocrinopathy NGS panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R

More info about this panel

Short stature with endocrinopathy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Short stature with endocrinopathy Deletion / Duplication panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R

More info about this panel

Short stature with endocrinopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Short stature with endocrinopathy Comprehensive panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R

More info about this panel

Insulin-like growth factor I, resistance to Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the IGF1R gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

IGF1R Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IGF1R gene.

More info about this panel

Comprehensive Short Stature Syndrome Panel Panel

Finland.

By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

FoundationOne® Heme Panel

United States.

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 panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

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 panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

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 panel

OmniSeq Comprehensive Panel

United States.

By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1

More info about this panel

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the IGF1R gene.

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

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 panel

Growth delay due to IGF-I resistance , Sequencing IGF1R Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the IGF1R gene.

More info about this panel

Growth delay due to IGF-I resistance , Deletions-Duplications (MLPA) IGF1R Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the IGF1R gene.

More info about this panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

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 panel

Tempus xO assay Panel

United States.

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 panel


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