Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Synonyms: MMCAT syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare syndromic chorioretinal dystrophy characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcornea-myopic chorioretinal atrophy-telecanthus syndrome | MMCAT syndrome |
| fr | Syndrome de microcornée-myopie avec atrophie choriorétinienne-télécanthus | Syndrome MMCAT |
| de | Mikrokornea-myopische chorioretinale Atrophie-Telekanthus-Syndrom | MMCAT-Syndrom |
| es | Síndrome de microcórnea-miopía con atrofia coriorretiniana-telecanto | Síndrome MMCAT |
| it | Sindrome da microcornea, atrofia corioretinica miopica e telecanto | Sindrome MMCAT |
| nl | Microcornea - myopische chorioretinale atrofie - telecanthus-syndroom | MMCAT-syndroom |
| pt | Síndrome de microcórnea atrofia coriorretiniana miópica - telecanto | |
| pl | Zespół mała rogówka - atrofia naczyniówki i siatkówki z krótkowzrocznością - telecanthus | Zespół MMCAT |
| cs | Syndrom zahrnující mikrokorneu, myopickou chorioretinální atrofii a telekantus | MMCAT syndrom |
| uk | Синдром мікророгівки-міопічної хоріоретинальної атрофії-телекантуса | Синдром MMCAT |
| zh | 小角膜、缺乏辨别力的脉络膜视网膜萎缩和内眦距过宽综合征 | MMCAT综合征 |
| tr | Mikrokornea-miyopik korioretinal atrofi-telekantus sendromu | MMCAT sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615458 | E | validated | |
| ICD-10 | Q15.8 | NTBT | attributed | validated |
| ICD-11 | 9B61 | NTBT | attributed | validated |
| MONDO | 0014195 | E | validated | |
| MONDO | 14195 | E | validated | |
| UMLS | C4751602 | 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:716299Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADAMTS18 | Disease-causing germline mutation(s) in | Assessed | HGNC:17110 | ENSG00000140873 | 607512 | 16q23.1 | ADAM metallopeptidase with thrombospondin type 1 motif 18 | 23818446[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 23818446[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/369970
- This record as JSON: /data/d/369970.json