Oculogastrointestinal-neurodevelopmental syndrome
Synonyms: OGIN Syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by eye abnormalities (including unilateral/bilateral microphthalmia, coloboma, unilateral ptosis and lens opacity) in addition to failure to thrive, renal anomalies (mainly horseshoe kidney, however ureteral-pelvic junction dysfunction and vesicoureteral reflux were also reported), imperforate anus and global developmental delay. Majority of the patients also present with hearing impairment, cardiac anomalies and dysmorphic features (triangular face, hypoplastic alae nasi, beaked nose, and small pointed chin).
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculogastrointestinal-neurodevelopmental syndrome | OGIN Syndrome |
| fr | Syndrome oculogastrointestinal-trouble neurologique du développement | Syndrome OGIN |
| de | Syndrom der okulo-gastro-intestinalen neurologische Entwicklungsstörungen | OGIN-Syndrom |
| es | Síndrome del neurodesarrollo-oculogastrointestinal | Síndrome OGIN |
| it | Sindrome oculo-gastrointestinale e dello sviluppo neurologico | Sindrome OGIN |
| nl | Oculogastro-intestinaal - neurologische ontwikkeling-syndroom | OGIN-syndroom |
| pt | Síndrome oculogastrointestinal-neurodesenvolvimento | Síndrome OGIN |
| pl | Zespół oczno-żołądkowo-jelitowy z zaburzeniami neurorozwojowymi | = en |
| cs | Okulogastrointestinální-neurovývojový syndrom | = en |
| uk | Окулогастроінтестінальний синдром з порушенням нейророзвитку | Синдром OGIN |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619318 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0036189 | E | validated | |
| UMLS | C5543355 | 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 (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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CAPN15 | Disease-causing germline mutation(s) in | Assessed | HGNC:11182 | ENSG00000103326 | 603267 | 16p13.3 | calpain 15 | 32885237[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 32885237[PMID]_33410501[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 32885237[PMID]_33410501[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/611201
- This record as JSON: /data/d/611201.json