DISEASE: Isolated anhidrosis with normal sweat glands
Entry
H02281 Disease
Name
Isolated anhidrosis with normal sweat glands; Dann-Epstein-Sohar syndrome
Description
Anhidrosis is defined as the absence of perspiration in the presence of an appropriate stimulus such as heat, exercise, or pharmacological agonists. Isolated anhidrosis with normal sweat glands (ANHD) is very rare autosomal recessive anhidrosis. A homozygous missense mutation in ITPR2 has been identified in all affected family members. ITPR2 encodes a Ca2+ release channel in the endoplasmic reticulum.
Category
Skin disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Skin disorders involving specific cutaneous structures
Disorders of the epidermis and epidermal appendages
Disorders of eccrine sweat glands or sweating
EE01 Hypohidrosis
H02281 Isolated anhidrosis with normal sweat glands
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06528 Calcium signaling
H02281 Isolated anhidrosis with normal sweat glands
