ANHD
MCID: ANH004
MIFTS: 18

Anhidrosis, Isolated, with Normal Sweat Glands (ANHD)

Categories: Genetic diseases, Skin diseases, Rare diseases, Endocrine 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 57 75 6 40
Dann-Epstein-Sohar Syndrome 57 12 75
Anhd 57 75
Anhidrosis, Familial Generalized, with Normal Sweat Glands 75
Isolated Generalized Anhidrosis with Normal Sweat Glands 59
Isolated Anhidrosis with Normal Sweat Glands 12

Characteristics:

OMIM:

57
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:

32
anhidrosis, isolated, with normal sweat glands:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 106190
Disease Ontology 12 DOID:0060603
Orphanet 59 ORPHA468666
MedGen 42 C1862871
MeSH 44 D007007

Summaries for Anhidrosis, Isolated, with Normal Sweat Glands

UniProtKB/Swiss-Prot : 75 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). 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

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
normal growth

Head And Neck Teeth:
no teeth abnormalities

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

Skin Nails Hair Hair:
no hair abnormality

Head And Neck Mouth:
normal saliva production

Skin Nails Hair Skin:
anhidrosis

Skin Nails Hair Nails:
no nail abnormality

Laboratory Abnormalities:
normal electrolyte levels
normal s-amylase levels


Clinical features from OMIM:

106190

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

32
# Description HPO Frequency HPO Source Accession
1 anhidrosis 32 HP:0000970
2 heat intolerance 32 HP:0002046
3 generalized anhidrosis 32 HP:0007459

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:

41
Skin

Publications for Anhidrosis, Isolated, with Normal Sweat Glands

Variations for Anhidrosis, Isolated, with Normal Sweat Glands

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

75
# 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 GRCh38 Chromosome 12, 26400166: 26400166
2 ITPR2 NM_002223.3(ITPR2): c.7492G> A (p.Gly2498Ser) single nucleotide variant Pathogenic rs786204832 GRCh37 Chromosome 12, 26553099: 26553099

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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