U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Isolated anhidrosis with normal sweat glands(ANHD)

MedGen UID:
1800259
Concept ID:
C5568836
Disease or Syndrome
Synonym: DANN-EPSTEIN-SOHAR SYNDROME
SNOMED CT: Isolated generalized anhidrosis with normal sweat glands (1187178004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): ITPR2 (12p11.23)
 
Monarch Initiative: MONDO:0007118
OMIM®: 106190
Orphanet: ORPHA468666

Definition

Isolated anhidrosis with normal sweat glands (ANHD) is characterized by absence of perspiration and subsequent heat intolerance with normal morphology and number of sweat glands. Teeth, hair, nails, and skin are normal (Klar et al., 2014). [from OMIM]

Clinical features

From HPO
Growth abnormality
MedGen UID:
808205
Concept ID:
C0262361
Finding
Heat intolerance
MedGen UID:
66659
Concept ID:
C0231274
Pathologic Function
The inability to maintain a comfortable body temperature in warm or hot weather.
Abnormal hair morphology
MedGen UID:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.
Generalized anhidrosis
MedGen UID:
870423
Concept ID:
C4024869
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Miyazoe S, Matsuo H, Ohnishi A, Tajima F, Fujishita S, Ichinose K, Shibuya N
Ann Neurol 1998 Sep;44(3):378-81. doi: 10.1002/ana.410440314. PMID: 9749605

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...