ITPR2 gene related symptoms and diseases

All the information presented here about the ITPR2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ITPR2 gene

Symptoms // Phenotype % Cases
Abnormality of the dentition Very Common - Between 80% and 100% cases
Hyperhidrosis Very Common - Between 80% and 100% cases
Malabsorption Very Common - Between 80% and 100% cases
Ectodermal dysplasia Very Common - Between 80% and 100% cases
Anhidrosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ITPR2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Xerostomia
  • Heat intolerance
  • Generalized anhidrosis
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Rare diseases associated to ITPR2 gene

Here you will find a list of rare diseases related to the ITPR2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ISOLATED GENERALIZED ANHIDROSIS WITH NORMAL SWEAT GLANDS


Alternate names

ISOLATED GENERALIZED ANHIDROSIS WITH NORMAL SWEAT GLANDS Is also known as dann-epstein-sohar syndrome

Most common symptoms of ISOLATED GENERALIZED ANHIDROSIS WITH NORMAL SWEAT GLANDS

  • Abnormality of the dentition
  • Hyperhidrosis
  • Malabsorption
  • Ectodermal dysplasia
  • Anhidrosis


More info about ISOLATED GENERALIZED ANHIDROSIS WITH NORMAL SWEAT GLANDS

SOURCES: ORPHANET OMIM


Potential gene panels for ITPR2 gene

Amyotrophic Lateral Sclerosis (ALS) Panel Panel

Germany.

By CeGaT GmbH Amyotrophic Lateral Sclerosis (ALS) Panel that also includes the following genes: ATXN1 ATXN2 SOD1 SPG11 SQSTM1 TAF15 TARDBP TBK1 TUBA4A UBQLN2

More info about this panel


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