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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).
Autosomal recessive inheritance (Orphanet)
 
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
See: Feature record | Search on this feature
Heat intolerance
MedGen UID:
66659
•Concept ID:
C0231274
•
Pathologic Function
The inability to maintain a comfortable body temperature in warm or hot weather.
See: Feature record | Search on this feature
Abnormal hair morphology
MedGen UID:
56381
•Concept ID:
C0157733
•
Finding
An abnormality of the hair.
See: Feature record | Search on this feature
Generalized anhidrosis
MedGen UID:
870423
•Concept ID:
C4024869
•
Finding
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Acquired idiopathic generalized anhidrosis with isolated sudomotor neuropathy.
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

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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