ANHD
MCID: ANH004
MIFTS: 18

Anhidrosis, Isolated, with Normal Sweat Glands (ANHD)

Categories: Endocrine diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Anhidrosis, Isolated, with Normal Sweat Glands

MalaCards integrated aliases for Anhidrosis, Isolated, with Normal Sweat Glands:

Name: Anhidrosis, Isolated, with Normal Sweat Glands 58 76 6 41
Dann-Epstein-Sohar Syndrome 58 12 76
Isolated Anhidrosis with Normal Sweat Glands 12 38
Anhd 58 76
Anhidrosis, Familial Generalized, with Normal Sweat Glands 76
Isolated Generalized Anhidrosis with Normal Sweat Glands 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
severe heat intolerance
five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015)


HPO:

33
anhidrosis, isolated, with normal sweat glands:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060603
OMIM 58 106190
KEGG 38 H02281
MeSH 45 D007007
Orphanet 60 ORPHA468666
MedGen 43 C1862871

Summaries for Anhidrosis, Isolated, with Normal Sweat Glands

UniProtKB/Swiss-Prot : 76 Anhidrosis, isolated, with normal sweat glands: An autosomal recessive disorder characterized by generalized, isolated anhidrosis, severe heat intolerance, and morphologically normal eccrine sweat glands. Body growth, teeth, hair, nails, and skin are normal.

MalaCards based summary : Anhidrosis, Isolated, with Normal Sweat Glands, is also known as dann-epstein-sohar syndrome. An important gene associated with Anhidrosis, Isolated, with Normal Sweat Glands is ITPR2 (Inositol 1,4,5-Trisphosphate Receptor Type 2), and among its related pathways/superpathways is Calcium signaling pathway. Affiliated tissues include skin, and related phenotypes are anhidrosis and heat intolerance

Disease Ontology : 12 An anhidrosis that has_material_basis in homozygous mutation in the ITPR2 gene on chromosome 12p11.

Description from OMIM: 106190

Related Diseases for Anhidrosis, Isolated, with Normal Sweat Glands

Symptoms & Phenotypes for Anhidrosis, Isolated, with Normal Sweat Glands

Human phenotypes related to Anhidrosis, Isolated, with Normal Sweat Glands:

33
# Description HPO Frequency HPO Source Accession
1 anhidrosis 33 HP:0000970
2 heat intolerance 33 HP:0002046
3 generalized anhidrosis 33 HP:0007459

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
anhidrosis

Head And Neck Mouth:
normal saliva production

Skin Nails Hair Skin Histology:
normal morphology of sweat glands
normal number of sweat glands

Skin Nails Hair Hair:
no hair abnormality

Growth Other:
normal growth

Head And Neck Teeth:
no teeth abnormalities

Skin Nails Hair Nails:
no nail abnormality

Laboratory Abnormalities:
normal electrolyte levels
normal s-amylase levels

Clinical features from OMIM:

106190

Drugs & Therapeutics for Anhidrosis, Isolated, with Normal Sweat Glands

Search Clinical Trials , NIH Clinical Center for Anhidrosis, Isolated, with Normal Sweat Glands

Genetic Tests for Anhidrosis, Isolated, with Normal Sweat Glands

Anatomical Context for Anhidrosis, Isolated, with Normal Sweat Glands

MalaCards organs/tissues related to Anhidrosis, Isolated, with Normal Sweat Glands:

42
Skin

Publications for Anhidrosis, Isolated, with Normal Sweat Glands

Articles related to Anhidrosis, Isolated, with Normal Sweat Glands:

# Title Authors Year
1
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice. ( 25329695 )
2014

Variations for Anhidrosis, Isolated, with Normal Sweat Glands

UniProtKB/Swiss-Prot genetic disease variations for Anhidrosis, Isolated, with Normal Sweat Glands:

76
# Symbol AA change Variation ID SNP ID
1 ITPR2 p.Gly2498Ser VAR_073688 rs786204832

ClinVar genetic disease variations for Anhidrosis, Isolated, with Normal Sweat Glands:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ITPR2 NM_002223.3(ITPR2): c.7492G> A (p.Gly2498Ser) single nucleotide variant Pathogenic rs786204832 GRCh37 Chromosome 12, 26553099: 26553099
2 ITPR2 NM_002223.3(ITPR2): c.7492G> A (p.Gly2498Ser) single nucleotide variant Pathogenic rs786204832 GRCh38 Chromosome 12, 26400166: 26400166

Expression for Anhidrosis, Isolated, with Normal Sweat Glands

Search GEO for disease gene expression data for Anhidrosis, Isolated, with Normal Sweat Glands.

Pathways for Anhidrosis, Isolated, with Normal Sweat Glands

Pathways related to Anhidrosis, Isolated, with Normal Sweat Glands according to KEGG:

38
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020

GO Terms for Anhidrosis, Isolated, with Normal Sweat Glands

Sources for Anhidrosis, Isolated, with Normal Sweat Glands

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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