IGF2 gene related symptoms and diseases

All the information presented here about the IGF2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IGF2 gene

Symptoms // Phenotype % Cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Hemihypertrophy Uncommon - Between 30% and 50% cases
Inguinal hernia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with IGF2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Facial asymmetry
  • Overgrowth
  • Embryonal neoplasm
  • Nephroblastoma
  • Rarely - Less than 30% cases

  • Delayed speech and language development
  • Micropenis
  • Abnormal heart morphology
  • Clinodactyly

And 74 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to IGF2 gene

Here you will find a list of rare diseases related to the IGF2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ISOLATED HEMIHYPERPLASIA

Alternate names

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy, hemi 3 syndrome, hemihypertrophy, isolated, hemihyperplasia, isolated hemihypertrophy, hhp

Description

Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

Most common symptoms of ISOLATED HEMIHYPERPLASIA

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


More info about ISOLATED HEMIHYPERPLASIA

SOURCES: OMIM ORPHANET MESH

GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Most common symptoms of GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

SOURCES: OMIM

BECKWITH-WIEDEMANN SYNDROME DUE TO IMPRINTING DEFECT OF 11P15

Most common symptoms of BECKWITH-WIEDEMANN SYNDROME DUE TO IMPRINTING DEFECT OF 11P15

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Cleft palate
  • Cryptorchidism


More info about BECKWITH-WIEDEMANN SYNDROME DUE TO IMPRINTING DEFECT OF 11P15

SOURCES: ORPHANET

SILVER-RUSSELL SYNDROME DUE TO AN IMPRINTING DEFECT OF 11P15

SILVER-RUSSELL SYNDROME DUE TO 11P15 MICRODUPLICATION

SILVER-RUSSELL SYNDROME DUE TO A POINT MUTATION


Potential gene panels for IGF2 gene

Silver-Russell syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the IGF2 gene.

More info about this panel
Germany.

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel
Spain.

Russell-Silver syndrome: Methylation detection and deletions-duplications analysis (MLPA) (KvDMR / H19DMR domains) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Russell-Silver syndrome: Methylation detection and deletions-duplications analysis (MLPA) (KvDMR / H19DMR domains) that also includes the following genes: CDKN1C H19 IGF2 KCNQ1 KCNQ1OT1

More info about this panel
Spain.

IGF2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IGF2 gene.

More info about this panel
United States.

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel
United States.

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel
United States.

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
United States.

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
United States.

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