ORPHA:468666
Isolated generalized anhidrosis with normal sweat glands
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated generalized anhidrosis with normal sweat glands | |
| fr | Anhidrose isolée généralisée avec glandes sudoripares normales | Anhidrose isolée généralisée avec glandes sudorales normales |
| de | Anhidrose, generalisierte isolierte, mit normalen Schweißdrüsen | |
| es | Anhidrosis generalizada aislada con glándulas sudoríparas normales | |
| it | Anidrosi generalizzata isolata con ghiandole sudoripare normali | |
| nl | Geïsoleerde gegeneraliseerde anhidrose met normale zweetklieren | |
| pt | Anidrose isolada generalizada com glândulas sudoriparas normais | |
| pl | Izolowana uogólniona anhydroza z prawidłowymi gruczołami potowymi | |
| cs | Izolovaná generalizovaná anhidróza s normálními potními žlázami | |
| uk | Ізольований генералізований ангідроз з нормальними потовими залозами | |
| zh | 单发的全身性无汗症伴正常汗腺 | |
| tr | Normal ter bezleri ile izole jeneralize anhidroz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 106190 | E | validated | |
| ICD-10 | L74.4 | NTBT | attributed | validated |
| ICD-11 | EE01.Y | NTBT | attributed | validated |
| MONDO | 0007118 | E | validated | |
| MONDO | 7118 | E | validated | |
| UMLS | C5568836 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:183484Genetic subcutaneous tissue disorder
rare genetic diseases - ORPHA:79381Other dermis disorder
rare skin diseases - ORPHA:477808Other genetic dermis disorder
rare genetic diseases - ORPHA:79382Subcutaneous tissue disease
rare skin diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ITPR2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6181 | ENSG00000123104 | 600144 | 12p11.23 | inositol 1,4,5-trisphosphate receptor type 2 | 25329695[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 25329695[PMID]_2401610[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25329695[PMID]_2401610[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/468666
- This record as JSON: /data/d/468666.json