Arginine vasopressin deficiency
Synonyms: CDI · Neurogenic diabetes insipidus
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant
- Age of onset
- Childhood
- Status
- active
Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Arginine vasopressin deficiency | CDI · Neurogenic diabetes insipidus |
| fr | Déficit en vasopressine | CDI · DIC · Diabète insipide central · Diabète insipide neurogène |
| de | Arginin-Vasopressin-Mangel | Neurogener Diabetes insipidus |
| es | Deficiencia de arginina vasopresina | DIC · Diabetes insipida central · Diabetes insípida neurogénica |
| it | Deficit di arginina vasopressina | CDI · Diabete insipido neurogeno |
| nl | Deficiëntie van arginine-vasopressine | CDI · Neurogene diabetes insipidus |
| pt | Deficiência de arginina vasopressina | CDI · Diabetes insipidus neurogénico |
| pl | Moczówka prosta ośrodkowa | CDI · Moczówka prosta neurogenna · Niedobór wazopresyny argininowej |
| cs | Centrální diabetes insipidus | CDI · Neurogenní diabetes insipidus |
| uk | Дефіцит аргінін-вазопресину | CDI · Нейрогенний нецукровий діабет |
| zh | 中枢性尿崩症 | 神经性尿崩症 |
| tr | Santral diabetes insipidus | CDI · Nörojenik diyabet insipidus |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125700 | BTNT | validated | |
| OMIM | 304900 | BTNT | validated | |
| ICD-10 | E23.2 | NTBT | attributed | validated |
| ICD-11 | 5A61.5 | E | specific | validated |
| MONDO | 0015790 | E | validated | |
| MeSH | D020790 | E | validated | |
| UMLS | C0687720 | E | validated | |
| GARD | 6015 | E | validated | |
| MedDRA | 10068587 | 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:101957Pituitary deficiency
rare endocrine diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:95501OBSOLETE: Congenital central diabetes insipidus 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 |
|---|---|---|---|---|---|---|---|---|---|
| AVP | ORPHA:30925Hereditary arginine vasopressin deficiency | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:894 | ENSG00000101200 | 192340 | 20p13 | arginine vasopressin | 14673472[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002039 | Anorexia | |
| HP:0001944 | Dehydration | |
| HP:0000873 | Diabetes insipidus | |
| HP:0001508 | Failure to thrive | |
| HP:0000017 | Nocturia | |
| HP:0001959 | Polydipsia | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0000739 | Anxiety | |
| HP:0000716 | Depression | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0001945 | Fever | |
| HP:0002315 | Headache | |
| HP:0001254 | Lethargy | |
| Occasional (29-5%) | ||
| HP:0002014 | Diarrhea | |
| HP:0002902 | Hyponatremia | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001250 | Seizure | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/178029
- This record as JSON: /data/d/178029.json