Autosomal recessive anterior segment dysgenesis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive anterior segment dysgenesis | |
| fr | Dysgénésie du segment antérieur autosomique récessive | |
| de | Autosomal-rezessive Dysgenesie des vorderen Augensegmentes | |
| es | Disgenesia del segmento anterior autosómica recesiva | |
| it | Disgenesia del segmento anteriore dell'occhio autosomica recessiva | |
| nl | Autosomaal recessieve dysgenesie van voorste oogsegment | |
| pt | Disgenésia do segmento anterior autossómica recessiva | |
| pl | Autosomalna recesywna dysgenezja przedniego odcinka oka | |
| cs | Autozomálně recesivní dysgeneze předního segmentu | |
| uk | Аутосомно-рецесивна дисгенезія переднього сегмента | |
| zh | 常染色体隐性前节发育不良 | |
| tr | Otozomal resesif anterior segment disgenezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617319 | E | validated | |
| ICD-10 | Q13.8 | NTBT | attributed | validated |
| ICD-11 | LA11.2 | NTBT | attributed | validated |
| MONDO | 0015017 | E | validated | |
| UMLS | C4310622 | 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 (1):
- ORPHA:98634Anterior segment developmental anomaly without extraocular manifestations
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 |
|---|---|---|---|---|---|---|---|---|
| CPAMD8 | Disease-causing germline mutation(s) in | Assessed | HGNC:23228 | ENSG00000160111 | 608841 | 19p13.11 | C3 and PZP like alpha-2-macroglobulin domain containing 8 | 27839872[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 27839872[PMID]_29556725[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27839872[PMID]_29556725[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/519388
- This record as JSON: /data/d/519388.json