ORPHA:1885
Isolated ectopia lentis
Synonyms: Ectopia lentis syndrome · Familial ectopia lentis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated ectopia lentis | Ectopia lentis syndrome · Familial ectopia lentis |
| fr | Ectopie du cristallin familiale | Ectopie du cristallin isolée |
| de | Ectopia lentis, isolierte | Ectopia lentis, familiäre · Ectopia lentis-Syndrom |
| es | Ectopia del cristalino aislada | Ectopia del cristalino familiar · Ectopia lentis familiar · Síndrome de ectopia del cristalino |
| it | Ectopia del cristallino isolata | Ectopia del cristallino familiare · Ectopia del cristallino sindromica |
| nl | Geïsoleerde ectopia lentis | Ectopia lentis-syndroom · Familiale ectopia lentis |
| pt | Ectopia lentis isolada | |
| pl | Izolowana ektopia soczewki | Rodzinna ektopia soczewki · Zespół ektopii soczewki |
| cs | Izolovaná dislokace čočky | Syndrom dislokace čočky · Familiární dislokace čočky |
| uk | Ізольована ектопія кришталика | Синдром червоподібного відростка · Сімейна ектопія кишок |
| zh | 孤立型晶状体异位 | 家族性晶体异位 |
| tr | İzole ektopia lentis | Ektopya lentis sendromu · Ailesel ektopya lentis |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 129600 | BTNT | validated | |
| OMIM | 225100 | BTNT | validated | |
| OMIM | 225200 | BTNT | validated | |
| ICD-10 | Q12.1 | E | specific | validated |
| ICD-11 | LA12.Y | NTBT | index | validated |
| MONDO | 0015998 | E | validated | |
| MeSH | D004479 | E | validated | |
| UMLS | C1851286 | E | validated | |
| GARD | 12251 | E | validated | |
| MedDRA | 10014145 | 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 (3):
- ORPHA:98653Lens position anomaly
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522552Lens position anomaly of genetic origin
rare genetic diseases - ORPHA:284993Marfan syndrome and Marfan-related disorders
rare genetic diseases; rare systemic and rheumatological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADAMTSL4 | Disease-causing germline mutation(s) in | Assessed | HGNC:19706 | ENSG00000143382 | 610113 | 1q21.2 | ADAMTS like 4 | |
| FBN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3603 | ENSG00000166147 | 134797 | 15q21.1 | fibrillin 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 90 cases | Worldwide | Case(s) | Validated | [EXPERT] |
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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001083 | Ectopia lentis | |
| HP:0001387 | Joint stiffness | |
| Frequent (79-30%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0000272 | Malar flattening | |
| HP:0000303 | Mandibular prognathia | |
| Occasional (29-5%) | ||
| HP:0000646 | Amblyopia | |
| HP:0000518 | Cataract | |
| HP:0009918 | Ectopia pupillae | |
| HP:0000822 | Hypertension | |
| HP:0000639 | Nystagmus | |
| HP:0000505 | Visual impairment | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1885
- This record as JSON: /data/d/1885.json