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
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
Search interest in ITPR2
Potential gene panels for ITPR2 gene
Amyotrophic Lateral Sclerosis (ALS) Panel Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DIABLO GCKR LPIN1 PIK3C2B SLC25A13 FOXC2 TCF7L2