ORPHA:684305
Neurooculocardiogenitourinary syndrome
Synonyms: NOCGUS · Neuro-oculo-cardio-genito-urinary syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurooculocardiogenitourinary syndrome | NOCGUS · Neuro-oculo-cardio-genito-urinary syndrome |
| fr | Syndrome neuro-oculo-cardio-génito-urinaire | NOCGUS |
| de | Neuro-okulo-kardio-urogenitales Syndrom | NOCGUS · Neuro-okulo-kardio-genito-urethrales Syndrom |
| es | Síndrome neurooculocardiogenitourinario | NOCGUS · Síndrome neuro-óculo-cardio-genito-urinario · Síndrome neuro-óculo-cardio-genitourinario |
| it | Sindrome neuro-oculo-cardio-genito-urinaria | Sindrome neuro-oculo-cardio-genito-urinaria · NOCGUS |
| nl | Neuro-oculocardio-urogenitaal syndroom | NOCGUS · Neuro-oculo-cardio-genito-urinair syndroom |
| pt | Síndrome NOCGUS | Síndrome neuro-oculo-cardio-genito-urinário · Síndrome neurooculocardiogenitourinário |
| pl | Zespół nerwowo-oczny z objawami sercowymi i z układu moczowo-płciowego | = en |
| cs | Neurookulokardiogenitourinární syndrom | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618652 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 32850 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:519288Rare disorder with corneal involvement as a major feature
rare ophthalmic disorders - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WDR37 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:31406 | ENSG00000047056 | 618586 | 10p15.3 | WD repeat domain 37 | 31327508[PMID]_31327510[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 31327508[PMID]_31327510[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31327508[PMID]_31327510[PMID]_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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/684305
- This record as JSON: /data/d/684305.json