Isolated hyperchlorhidrosis
Synonyms: Carbonic anhydrase XII deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic skin disease characterized by excessive salt wasting in sweat, leading to hyponatremic dehydration, hyperkalemia, and poor feeding and slow weight gain in infancy. Laboratory examination shows hyponatremia, hyperkalemia, increased aldosterone, and increased sweat chloride concentrations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated hyperchlorhidrosis | Carbonic anhydrase XII deficiency |
| fr | Hyperchlorhidrose isolée | Déficit en anhydrase carbonique XII |
| de | Hyperchlorhydrie, isolierte | Carboanhydrase XII-Mangel |
| es | Hiperclorhidrosis aislada | Deficiencia de anhidrasa carbónica XII |
| it | Ipercloridrosi isolata | |
| nl | Geïsoleerde hyperchlorhidrose | Koolzuuranhydrase XII-deficiëntie |
| pt | Hipercloridrose isolada | |
| pl | Izolowane nadmierne wydzielanie chlorków w pocie | = en |
| cs | Izolovaná hyperchlorhidróza | Deficit karbonické anhydrázy XII |
| uk | Ізольований гіперхлоргідроз | Дефіцит карбоангідрази XII |
| zh | 孤立性高氯性多汗症 | 碳酸酐酶XII缺乏症 |
| tr | İzole hiperklorhidroz | Karbonik anhidraz XII eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 143860 | E | validated | |
| ICD-10 | L74.8 | NTBT | attributed | validated |
| ICD-11 | EE0Y | NTBT | attributed | validated |
| MONDO | 0007747 | E | validated | |
| UMLS | C1840437 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183447Genetic epidermal appendage anomaly
rare genetic diseases - ORPHA:726843Sweat glands anomaly
rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CA12 | Disease-causing germline mutation(s) in | Assessed | HGNC:1371 | ENSG00000074410 | 603263 | 15q22.2 | carbonic anhydrase 12 | 21035102[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 21035102[PMID]_26911677[PMID]_21184099[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21035102[PMID]_26911677[PMID]_21184099[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/542657
- This record as JSON: /data/d/542657.json