Inositol-1,4,5-triphosphate receptor type 2 deficiency

Synonym(s)
- Isolated anhidrosis with normal sweat glands
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ITPR2 / Inositol 1,4,5-Trisphosphate Receptor Type 2
  12p11.23
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Inositol 1,4,5-trisphosphate receptor type 2
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism