Early-onset familial hypoaldosteronism
Synonyms: Early-onset familial hyperreninemic hypoaldosteronism · Severe aldosterone synthase deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset familial hypoaldosteronism | Early-onset familial hyperreninemic hypoaldosteronism · Severe aldosterone synthase deficiency |
| fr | Hypoaldostéronisme familial à début précoce | Déficit en aldostérone synthase sévère · Hypoaldostéronisme familial hyperréninémique à début précoce |
| de | Hypoaldosteronismus, familiärer, früh-einsetzende Form | Aldosteron-Synthase-Mangel, schwere Form · Hypoaldosteronismus, familiärer hyperreninämischer, früh beginnend |
| es | Hipoaldosteronismo familiar de inicio precoz | Deficiencia de aldosterona sintasa grave · Hipoaldosteronismo hiperreninémico familiar de inicio precoz |
| it | Ipoaldesteronismo familiare a esordio precoce | |
| nl | Familiaal hypoaldosteronisme met vroege aanvang | Ernstige aldosteronsynthasedeficiëntie · Familiaal hyperreninemisch hypoaldosteronisme met vroege aanvang |
| pt | Hipoaldosteronismo familiar de início precoce | |
| pl | Hipoaldosteronizm rodzinny o wczesnym początku | Ciężki niedobór syntazy aldosterony |
| cs | Familiární hypoaldosteronismus s časným nástupem | Závažný deficit aldosteron syntázy · Familiární hyperreninemický hypoaldosteronismus s časným nástupem |
| uk | Ранній сімейний гіпоальдостеронізм | Ранній сімейний гіперренінемічний гіпоальдостеронізм · Тяжкий дефіцит альдостеронової синтази |
| zh | 早发性家族性醛固酮减少症 | 早发性家族性高肾素低醛固酮症 |
| tr | Erken başlangıçlı ailesel hipoaldosteronizm | Ağır aldosteron sentaz eksikliği · Erken başlangıçlı ailesel hiperreninemik hipoaldosteronizm |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E27.4 | NTBT | attributed | validated |
| ICD-11 | 5A73 | NTBT | attributed | validated |
| MONDO | 0035320 | E | validated | |
| UMLS | C5680171 | 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 (1):
- ORPHA:427Familial hypoaldosteronism
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP11B2 | 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 | 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
16 annotations · validated 2019-07-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001508 | Failure to thrive | |
| HP:0002153 | Hyperkalemia | |
| HP:0002902 | Hyponatremia | |
| HP:0002615 | Hypotension | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0012606 | Renal sodium wasting | |
| Frequent (79-30%) | ||
| HP:0012112 | Abnormality of circulating corticosterone level | |
| HP:0004319 | Decreased circulating aldosterone level | |
| HP:0001944 | Dehydration | |
| HP:0025436 | Elevated serum 11-deoxycortisol | |
| HP:0011968 | Feeding difficulties | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000848 | Increased circulating renin level | |
| HP:0001278 | Orthostatic hypotension | |
| HP:0002013 | Vomiting | |
| Excluded (0%) | ||
| HP:0000811 | Abnormal external genitalia | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 6991942[PMID]_1594605[PMID]_1601005[PMID]_9360501[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/556030
- This record as JSON: /data/d/556030.json