Congenital cataract-anterior segment dysgenesis syndrome
Synonyms: Congenital cataract-ASD syndrome · Congenital cataract-ASGD syndrome · Congenital cataract-ASMD syndrome · Congenital cataract-anterior segment mesenchymal dysgenesis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic ophthalmic syndrome characterized by congenital progressive posterior cataract (usually bilateral) and anterior segment mesenchymal dysgenesis that can be associated with unilateral or bilateral glaucoma (either congenital or develop at a young age). Some patients may present only with cataracts. Microcornea (sometimes bilateral), corneal opacities including posterior embryotoxon, iris atrophy/iridocorneal adhesions and nystagmus are reported as additional clinical features in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital cataract-anterior segment dysgenesis syndrome | Congenital cataract-ASD syndrome · Congenital cataract-ASGD syndrome · Congenital cataract-ASMD syndrome · Congenital cataract-anterior segment mesenchymal dysgenesis syndrome |
| fr | Syndrome de cataracte congénitale-dysgénésie du segment antérieur | Syndrome de cataracte congénitale-dysgénésie mésenchymateuse du segment antérieur |
| de | Syndrom der kongenitalen Katarakt mit Dysgenesie des vorderen Augensegmentes | Kongenitale Katarakt mit mesenchymaler Dysgenesie des vorderen Augensegmentes |
| es | Síndrome congénito de catarata-disgenesia del segmento anterior | Síndrome congénito de catarata-disgenesia mesenquimatosa del segmento anterior |
| it | Sindrome cataratta congenita-disgenesia del segmento anteriore | Sindrome cataratta congenita-ASD · Sindrome cataratta congenita-ASGD · Sindrome cataratta congenita-ASMD · Sindrome cataratta congenita-disgenesia mesenchimale del segmento anteriore |
| nl | Congenitaal cataract - dysgenesie van voorste oogsegment-syndroom | Congenitaal cataract - ASD-syndroom · Congenitaal cataract - ASGD-syndroom · Congenitaal cataract - ASMD-syndroom · Congenitaal cataract - mesenchymale dysgenesie van voorste oogsegment-syndroom |
| pt | Síndrome de catarata congénita-disgenésia do segmento anterior | Síndrome de catarata congénita-ASD · Síndrome de catarata congénita-ASGD · Síndrome de catarata congénita-ASMD · Síndrome de catarata congénita-disgenesia mesenquimal do segmento anterior |
| pl | Zaćma-jaskra | Zespół wrodzonej zaćmy i dysgenezji przedniego odcinka |
| cs | Syndrom zahrnující kataraktu a glaukom | = en |
| uk | Синдром вродженої катаракти-дисгенезії переднього сегмента | Синдром вродженої катаракти - мезенхімального дисгенезу переднього сегмента · Синдром вродженої катаракти-ASD · Синдром вродженої катаракти - ASGD · Синдром вродженої катаракти-ASMD |
| zh | 青光眼-白内障综合征 | |
| tr | Katarakt-glokom sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q12.0 | NTBT | attributed | validated |
| ICD-11 | LA11.2 | NTBT | attributed | validated |
| MONDO | 0015567 | E | validated | |
| UMLS | C5925037 | E | validated | |
| GARD | 1160 | 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 (2):
- ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PITX3 | Disease-causing germline mutation(s) in | Assessed | HGNC:9006 | ENSG00000107859 | 602669 | 10q24.32 | paired like homeodomain 3 | 9620774[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15665340[PMID] |
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 15665340[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/162
- This record as JSON: /data/d/162.json