IGF2R gene related symptoms and diseases

All the information presented here about the IGF2R gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IGF2R gene

Symptoms // Phenotype % Cases
Microcephaly Very Common - Between 80% and 100% cases
Thrombocytosis Very Common - Between 80% and 100% cases
Viral hepatitis Very Common - Between 80% and 100% cases
Hepatic necrosis Very Common - Between 80% and 100% cases
Portal vein thrombosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with IGF2R gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Epigastric pain
  • Embryonal neoplasm
  • Giant cell hepatitis
  • Elevated alpha-fetoprotein
  • Chronic infection
  • Chronic hepatitis
  • Hepatoblastoma
  • Micronodular cirrhosis

And 19 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to IGF2R gene

Here you will find a list of rare diseases related to the IGF2R. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PEDIATRIC HEPATOCELLULAR CARCINOMA


Alternate names

PEDIATRIC HEPATOCELLULAR CARCINOMA Is also known as liver cancer, lcc, childhood-onset hcc, hcc, liver cell carcinoma, hepatoma, cancer, hepatocellular, childhood-onset hepatocellular carcinoma, pediatric hcc

Description

Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.

Most common symptoms of PEDIATRIC HEPATOCELLULAR CARCINOMA

  • Microcephaly
  • Neoplasm
  • Cryptorchidism
  • Motor delay
  • Hepatomegaly


More info about PEDIATRIC HEPATOCELLULAR CARCINOMA

SOURCES: OMIM ORPHANET


Potential gene panels for IGF2R gene

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Hepatocellular carcinoma, somatic Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the IGF2R gene.

More info about this panel

IGF2R Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IGF2R gene.

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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