Generalized pseudohypoaldosteronism type 1
Synonyms: Autosomal recessive PHA1 · Autosomal recessive pseudohypoaldosteronism type 1 · Generalized PHA1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A severe form of pseudohypoaldosteronism type 1 characterized by salt wasting in multiple organs including the kidney, colon, and sweat and salivary glands. Presentation is in the first few weeks of life with severe dehydration, vomiting and failure to thrive in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. No remission is reported and patients suffer from recurrent life-threatening episodes of salt loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Generalized pseudohypoaldosteronism type 1 | Autosomal recessive PHA1 · Autosomal recessive pseudohypoaldosteronism type 1 · Generalized PHA1 |
| fr | Pseudohypoaldostéronisme type 1 généralisé | PHA1 autosomique récessif · PHA1 généralisé · Pseudohypoaldostéronisme type 1 autosomique récessif |
| de | Pseudohypoaldosteronismus, generalisierter, Typ 1 | Generalisierter PHA1 · Pseudohypoaldosteronismus, autosomal-rezessiver, Typ 1 |
| es | Pseudohipoaldosteronismo generalizado tipo 1 | PHA1 autosómico recesivo · PHA1 generalizado · Pseudohipoaldosteronismo autosómico recesivo tipo 1 |
| it | Pseudoipoaldosteronismo generalizzato tipo 1 | PHA1 autosomico recessivo · PHA1 generalizzato · Pseudoipoaldosteronismo autosomico recessivo tipo 1 |
| nl | Gegeneraliseerd pseudohypoaldosteronisme type 1 | Autosomaal recessief PHA1 · Autosomaal recessief pseudohypoaldosteronisme type 1 · Gegeneraliseerd PHA1 |
| pt | Pseudo-hipoaldosteronismo tipo 1 generalizado | PHA1 autossómica recessiva · PHA1 generalizada · Pseudo-hipoaldosteronismo autossómico recessivo tipo 1 |
| pl | Uogólniony pseudohipoaldosteronizm typu 1 | Autosomalny recesywny pseudohipoaldosteronizm typu 1 |
| cs | Generalizovaný pseudohypoaldosteronismus, typ 1 | Autozomálně recesivní pseudohypoaldosteronismus, typ 1 |
| uk | Генералізований псевдогіпоальдостеронізм, тип 1 | Аутосомно-рецесивний PHA1 · Аутосомно-рецесивний псевдогіпоальдостеронізм типу 1 · Узагальнений PHA1 |
| zh | 全身性假性醛固酮减少症1型 | 常染色体隐性遗传假性醛固酮减少症1型 |
| tr | Jeneralize psödohipoaldosteronizm tip 1 | Otozomal çekinik psödohipoaldosteronizm tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 264350 | BTNT | validated | |
| OMIM | 620125 | BTNT | validated | |
| OMIM | 620126 | BTNT | validated | |
| ICD-10 | N25.8 | NTBT | attributed | validated |
| ICD-11 | GB90.41 | NTBT | index | validated |
| MONDO | 0009917 | E | validated | |
| UMLS | C1449843 | E | validated | |
| GARD | 4552 | 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:756Pseudohypoaldosteronism type 1
rare genetic diseases; rare renal diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCNN1A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10599 | ENSG00000111319 | 600228 | 12p13.31 | sodium channel epithelial 1 subunit alpha | 19571553[PMID]_23416952[PMID]_23762408[PMID] |
| SCNN1B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10600 | ENSG00000168447 | 600760 | 16p12.2 | sodium channel epithelial 1 subunit beta | 19571553[PMID]_23426840[PMID] |
| SCNN1G | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10602 | ENSG00000166828 | 600761 | 16p12.2 | sodium channel epithelial 1 subunit gamma | 11231969[PMID]_19571553[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 / 100 000 | United Kingdom | Value and class | Validated | 24616761[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
22 annotations · validated 2020-02-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040085 | Abnormal circulating aldosterone | |
| HP:0011740 | Glucocortocoid-insensitive primary hyperaldosteronism | |
| HP:0002153 | Hyperkalemia | |
| HP:0002902 | Hyponatremia | |
| HP:0000848 | Increased circulating renin level | |
| HP:0001942 | Metabolic acidosis | |
| Frequent (79-30%) | ||
| HP:0001944 | Dehydration | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0031274 | Hypovolemic shock | |
| HP:0200117 | Recurrent upper and lower respiratory tract infections | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0001047 | Atopic dermatitis | |
| HP:0001081 | Cholelithiasis | |
| HP:0012735 | Cough | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002754 | Osteomyelitis | |
| HP:0003508 | Proportionate short stature | |
| HP:0200039 | Pustule | |
| HP:0011110 | Recurrent tonsillitis | |
| HP:0001824 | Weight loss | |
| HP:0030828 | Wheezing | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 28804203[PMID]_31301676[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171876
- This record as JSON: /data/d/171876.json