ORPHA:363741
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome | |
| fr | Syndrome de microphtalmie colobomateuse-obésité-hypogénitalisme-déficience intellectuelle | |
| de | Kolobomatöse Mikrophthalmie-Adipositas-Hypogenitalismus-Intelligenzminderung-Syndrom | |
| es | Síndrome de microftalmia colobomatosa-obesidad-hipogenitalismo-discapacidad intelectual | |
| it | Sindrome microftalmia colobomatosa-obesità -ipogenitalismo-disabilità intellettiva | |
| nl | Colobomateuze microftalmie - obesitas - hypogenitalisme - intellectuele achterstand-syndroom | |
| pt | Síndrome de microftlamia colobomatosa-obesidade-hipogenitalismo-perturbação do desenvolvimento intelectual | |
| pl | Zespół rozszczep oka-otyłość-hipogenitalizm-niepełnosprawność intelektualna | |
| cs | Syndrom zahrnující kolobomatózní mikroftalmii, obezitu, hypogenitalismus a mentální retardaci | |
| uk | Синдром колобоматозної мікрофтальмії-ожиріння-гіпогеніталізму-інтелектуальної недостатності | |
| zh | 疣状小眼畸形-肥胖-性欲低下-智力障碍综合征 | |
| tr | Kolobomatöz mikroftalmi-obezite-hipogenitalizm-zihinsel yetersizlik sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601794 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0011145 | E | validated | |
| UMLS | C4755253 | 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 (4):
- 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:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Not yet validated | 9098485[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
14 annotations · validated 2020-06-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0003241 | External genital hypoplasia | |
| HP:0000135 | Hypogonadism | |
| HP:0001249 | Intellectual disability | |
| HP:0000568 | Microphthalmia | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000639 | Nystagmus | |
| HP:0001513 | Obesity | |
| HP:0000480 | Retinal coloboma | |
| Occasional (29-5%) | ||
| HP:0100702 | Arachnoid cyst | |
| HP:0000028 | Cryptorchidism | |
| HP:0000771 | Gynecomastia | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0000510 | Rod-cone dystrophy | |
Annotation source: 9098485[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363741
- This record as JSON: /data/d/363741.json