Nephrogenic syndrome of inappropriate antidiuresis
Synonyms: NSIAD
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nephrogenic syndrome of inappropriate antidiuresis | NSIAD |
| fr | Syndrome néphrogénique d'antidiurèse inappropriée | = en |
| de | Nephrogenes Syndrom mit unverhältnismäßiger Antidiurese | = en |
| es | Síndrome nefrogénico de antidiuresis inapropiada (NSIAD) | |
| it | Sindrome nefrogenica da antidiuresi non appropriata | = en |
| nl | Nefrogeen syndroom van inadequate antidiurese | = en |
| pt | Síndrome nefrogénico de antidiurese inapropriada (NSIAD) | |
| pl | Zespół nerczycowy z nieprawidłową antydiurezą | = en |
| cs | Nefrogenní syndrom s nepřiměřenou antidiurézou | = en |
| uk | Нефрогенний синдром неадекватного антидіурезу | = en |
| zh | 抗利尿不适当肾病综合征 | = en |
| tr | Uygunsuz antidiürezin nefrojenik sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300539 | E | validated | |
| ICD-10 | E22.2 | NTBT | attributed | validated |
| ICD-11 | 5A60.20 | E | specific | validated |
| MONDO | 0010356 | E | validated | |
| MeSH | C564491 | E | validated | |
| UMLS | C1845202 | E | validated | |
| GARD | 10306 | 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:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AVPR2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:897 | ENSG00000126895 | 300538 | Xq28 | arginine vasopressin receptor 2 | 17229917[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 22722264[PMID]_[EXPERT] | |
| 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93606
- This record as JSON: /data/d/93606.json