ORPHA:30925
Hereditary arginine vasopressin deficiency
Synonyms: Hereditary CDI · Hereditary neurogenic diabetes insipidus
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant
- Age of onset
- Childhood
- Status
- active
Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary arginine vasopressin deficiency | Hereditary CDI · Hereditary neurogenic diabetes insipidus |
| fr | Déficit héréditaire en arginine vasopressine | DIC héréditaire · Diabète insipide neurogène héréditaire |
| de | Hereditärer Arginin-Vasopressin-Mangel | CDI, hereditärer · Diabetes insipidus, neurogener, hereditärer |
| es | Deficiencia de arginina vasopresina hereditaria | DIC hereditaria · Diabetes insipida central hereditaria · Diabetes insípida neurogénica hereditaria |
| it | Deficit ereditario di arginina-vasopressina | CDI ereditario · Diabete insipido neurogeno ereditario |
| nl | Hereditaire deficiëntie van arginine-vasopressine | Erfelijke CDI · Erfelijke neurogene diabetes insipidus |
| pt | Deficiência de arginina vasopressina hereditária | CDI hereditária · Diabetes insipida neurogénica hereditária central primária |
| pl | Dziedziczna moczówka prosta ośrodkowa | Dziedziczna CDI · Dziedziczna moczówka prosta neurogenna · Dziedziczny niedobór wazopresyny argininowej |
| cs | Hereditární centrální diabetes insipidus | Hereditární CDI · Hereditární neurogenní diabetes insipidus |
| uk | Спадковий дефіцит аргінін-вазопресину | Спадковий CDI · Спадковий нейрогенний нецукровий діабет |
| zh | 遗传性中枢性尿崩症 | 遗传性中枢性尿崩症 |
| tr | Kalıtsal santral diyabet insipidus | Kalıtsal CDI · Kalıtsal nörojenik diabetes insipidus |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125700 | E | validated | |
| OMIM | 304900 | BTNT | validated | |
| ICD-10 | E23.2 | E | specific | validated |
| ICD-11 | 5A61.5 | NTBT | index | validated |
| MONDO | 0007450 | E | validated | |
| UMLS | C5680110 | 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 (2):
- ORPHA:178029Arginine vasopressin deficiency
rare endocrine diseases - ORPHA:101957Pituitary deficiency
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AVP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:894 | ENSG00000101200 | 192340 | 20p13 | arginine vasopressin | 14673472[PMID] |
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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.
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HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000873 | Diabetes insipidus | |
| HP:0001959 | Polydipsia | |
| Frequent (79-30%) | ||
| HP:0002014 | Diarrhea | |
| HP:0001945 | Fever | |
| HP:0001510 | Growth delay | |
| HP:0000737 | Irritability | |
| HP:0001254 | Lethargy | |
| HP:0002013 | Vomiting | |
| HP:0001824 | Weight loss | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/30925
- This record as JSON: /data/d/30925.json