Aniridia-ptosis-intellectual disability-familial obesity syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- historical
An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aniridia-ptosis-intellectual disability-familial obesity syndrome | |
| fr | Syndrome d'aniridie-ptosis-déficience intellectuelle-obésité | |
| de | Aniridie-Ptosis-Intelligenzminderung-familiäre Adipositas-Syndrom | |
| es | Síndrome de aniridia-ptosis-discapacidad intelectual-obesidad familiar | |
| it | Sindrome aniridia-ptosi-disabilità intellettiva-obesità familiare | |
| nl | Aniridie - ptosis - intellectuele achterstand - familiale obesitas-syndroom | |
| pt | Síndrome de aniridia-ptose-perturbação do desenvolvimento intelectual-obesidade familiar | |
| pl | Aniridia - ptoza - niepełnosprawność intelektualna -otyłość rodzinna | |
| cs | Syndrom zahrnující aniridii, ptózu, mentální retardaci a familiární obezitu | |
| uk | Синдром аніридії-птозу-інтелектуальної недостатності-сімейного ожиріння | |
| zh | 无虹膜-上睑下垂-智力障碍-家族性肥胖综合征 | |
| tr | Aniridi-pitoz-zihinsel yetersizlik-ailesel obezite sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q13.1 | NTBT | attributed | validated |
| MONDO | 0015198 | E | validated | |
| UMLS | C4303736 | E | validated | |
| GARD | 689 | 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:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:522568Rare genetic disorder of the pupil
rare genetic diseases - ORPHA:98557Syndromic aniridia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 3091805[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3091805[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.
HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008053 | Aplasia/Hypoplasia of the iris | |
| HP:0007957 | Corneal opacity | |
| HP:0001249 | Intellectual disability | |
| HP:0000545 | Myopia | |
| HP:0009917 | Persistent pupillary membrane | |
| HP:0000508 | Ptosis | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0001596 | Alopecia | |
| HP:0000518 | Cataract | |
| HP:0005599 | Hypopigmentation of hair | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1067
- This record as JSON: /data/d/1067.json