Familial hypoaldosteronism
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Infancy, Neonatal
- Status
- active
A rare genetic hypoaldosteronism that typically presents in infancy (earl-onset familial hypoaldosternism) as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration). A history of fever, diarrhoea, lethargy, poor weight gain, poor feeding since birth may also be present. Older subjects (late-onset familial hypoaldosteronism) are less severely affected or asymptomatic.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial hypoaldosteronism | |
| fr | Hypoaldostéronisme familial | |
| de | Hypoaldosteronismus, familiärer | |
| es | Hipoaldosteronismo familiar | |
| it | Ipoaldosteronismo familiare | |
| nl | Familiaal hypoaldosteronisme | |
| pt | Hipoaldosteronismo familiar | |
| pl | Rodzinny hipoaldosteronizm | |
| cs | Familiární hypoaldosteronismus | |
| uk | Сімейний гіпоальдостеронізм | |
| zh | 家族性低醛固酮血症 | |
| tr | Ailesel hipoaldosteronizm |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203400 | BTNT | validated | |
| OMIM | 606984 | BTNT | validated | |
| OMIM | 610600 | BTNT | validated | |
| ICD-10 | E27.4 | NTBT | attributed | validated |
| ICD-11 | 5A73 | NTBT | index | validated |
| MONDO | 0018541 | E | validated | |
| UMLS | C4275180 | 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:183637Rare genetic adrenal disease
rare genetic diseases - ORPHA:181419Rare hypoaldosteronism
rare endocrine diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:99763OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1 referred to · inactive
- ORPHA:99764OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2 referred to · inactive
Genes
0 direct · 1 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CYP11B2 | ORPHA:556030Early-onset familial hypoaldosteronism | Disease-causing germline mutation(s) in | Assessed | HGNC:2592 | ENSG00000179142 | 124080 | 8q24.3 | cytochrome P450 family 11 subfamily B member 2 | 22801770[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
19 annotations · validated 2019-06-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000848 | Increased circulating renin level | |
| HP:0000127 | Renal salt wasting | |
| Very frequent (99-80%) | ||
| HP:0000846 | Adrenal insufficiency | |
| HP:0004319 | Decreased circulating aldosterone level | |
| HP:0001508 | Failure to thrive | |
| HP:0002153 | Hyperkalemia | |
| HP:0002902 | Hyponatremia | |
| HP:0002615 | Hypotension | |
| HP:0011106 | Hypovolemia | |
| Frequent (79-30%) | ||
| HP:0012364 | Decreased urinary potassium | |
| HP:0002014 | Diarrhea | |
| HP:0011968 | Feeding difficulties | |
| HP:0001510 | Growth delay | |
| HP:0001254 | Lethargy | |
| HP:0001942 | Metabolic acidosis | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001278 | Orthostatic hypotension | |
| HP:0002049 | Proximal renal tubular acidosis | |
| HP:0001954 | Recurrent fever | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 15134805[PMID]_11701710[PMID]_9814506[PMID]_11238478[PMID]_14250395[PMID]_22217826[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/427
- This record as JSON: /data/d/427.json