INS-IGF2 gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to INS-IGF2 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Multiple lipomas Very Common - Between 80% and 100% cases
Hemifacial hypertrophy Very Common - Between 80% and 100% cases
Leiomyosarcoma Very Common - Between 80% and 100% cases
Embryonal neoplasm Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with INS-IGF2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hepatoblastoma
  • Asymmetry of the thorax
  • Asymmetric growth
  • Adrenocortical adenoma
  • Pheochromocytoma
  • Hemihypertrophy
  • Communicating hydrocephalus
  • Myelomeningocele

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

Rare diseases associated to INS-IGF2 gene

Here you will find a list of rare diseases related to the INS-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



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