ORPHA:300525
Pseudohypoaldosteronism type 2D
Synonyms: PHA2D
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Status
- active
This disease is described under Pseudohypoaldosteronism type 2
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudohypoaldosteronism type 2D | PHA2D |
| fr | Pseudohypoaldostéronisme type 2D | = en |
| de | Pseudohypoaldosteronismus Typ 2D | = en |
| es | Pseudohipoaldosteronismo tipo 2D | = en |
| it | Pseudoipoaldosteronismo, tipo 2D | = en |
| nl | Pseudohypoaldosteronisme type 2D | = en |
| pt | Pseudohipoaldosteronismo, tipo 2D | |
| pl | Pseudohipoaldosteronizm typu 2D | = en |
| cs | Pseudohypoaldosteronismus, typ 2D | = en |
| uk | Псевдогіпоальдостеронізм, тип 2D | = en |
| zh | 假性醛固酮减少症2D型 | 假性醛固酮减少症2D型 |
| tr | Psödohipoaldosteronizm tip 2D | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614495 | E | validated | |
| ICD-10 | I15.1 | NTBT | attributed | validated |
| ICD-11 | BA04.Y | NTBT | index | validated |
| MONDO | 0013781 | E | validated | |
| UMLS | C3469605 | 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 (1):
- ORPHA:757Pseudohypoaldosteronism type 2
rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KLHL3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6354 | ENSG00000146021 | 605775 | 5q31.2 | kelch like family member 3 | 22073419[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | 22266938[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
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/300525
- This record as JSON: /data/d/300525.json