ORPHA:3145
Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
historical
Synonyms: Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy
- Status
- historical
A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome | Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome |
| fr | Syndrome de résistance à l'arginine vasopressine-calcifications intracrâniennes-petite taille-dysmorphie faciale | Syndrome de diabète insipide néphrogénique-calcifications intracrâniennes-petite taille-dysmorphie faciale |
| de | Arginin-Vasopressin-Resistenz-intrakranielle Kalzifikation-Kleinwuchs-Gesichtsdysmorphie-Syndrom | |
| es | Síndrome de resistencia a la arginina vasopresina-calcificación intracraneal-talla baja-dismorfia facial | |
| it | Sindrome resistenza all'arginina vasopressina-calcificazioni intracraniche-bassa statura-dismorfismi facciali | Sindrome diabete insipido nefrogenico-calcificazione intracranica-bassa statura-dismorfismi facciali |
| nl | Resistentie voor arginine-vasopressine - intracraniële calcificatie - kleine gestalte - faciale dysmorfie-syndroom | |
| pt | Síndrome de resistência a arginina vasopressina-calcificação intracraniana-baixa estatura-dismorfia facial | |
| pl | Cukrzyca nerkowa - wapnienie wewnątrzczaszkowe | Zespół Schofera, Beetza i Bohla · Zespół moczówki prostej nerkopochodnej, zwapnienia wewnątrzczaszkowego, niskiego wzrostu i dysmorfii twarzy · Zespół oporności na wazopresynę argininową, zwapnień wewnątrzczaszkowych, niskorosłości i dysmorfii twarzy |
| cs | Syndrom zahrnující renální diabetes insipidus, intrakraniální kalcifikace, malý vzrůst a faciální dysmorfii | Schoferův-Beetzův-Bohlův syndrom · Schofer-Beetz-Bohlův syndrom |
| uk | Синдром резистентності до аргінін-вазопресину - внутрішньочерепної кальцифікації-низькорослості-дисморфізму обличчя | Синдром нефрогенного цукрового діабету - внутрішньочерепної кальцифікації - низькорослості - дисморфізму обличчя |
| zh | 肾性尿崩-颅内钙化-面部畸形综合征 | |
| tr | Nefrojenik diyabet insipidus-intrakraniyal kalsifikasyon-fasiyal dismorfizm sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 221995 | E | validated | |
| ICD-10 | N25.1 | NTBT | attributed | validated |
| ICD-11 | GB90.4A | NTBT | attributed | validated |
| MONDO | 0009099 | E | validated | |
| MeSH | C535949 | E | validated | |
| UMLS | C2931070 | E | validated | |
| GARD | 259 | 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:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 24053747[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 24053747[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.
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HPO phenotypes
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0000670 | Carious teeth | |
| HP:0002514 | Cerebral calcification | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001263 | Global developmental delay | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0001249 | Intellectual disability | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000347 | Micrognathia | |
| HP:0009806 | Nephrogenic diabetes insipidus | |
| HP:0004322 | Short stature | |
| HP:0011069 | Supernumerary tooth | |
| Frequent (79-30%) | ||
| HP:0000405 | Conductive hearing impairment | |
| HP:0000823 | Delayed puberty | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3145
- This record as JSON: /data/d/3145.json