Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Synonyms: Megalocornea-spherophakia-secondary glaucoma syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glaucoma secondary to spherophakia/ectopia lentis and megalocornea | Megalocornea-spherophakia-secondary glaucoma syndrome |
| fr | Glaucome secondaire à une sphérophakie/ectopie du cristallin et mégalocornée | Syndrome de mégalocornée-sphérophakie-glaucome secondaire |
| de | Megalokornea - Sphärophakie - sekundäres Glaukom | |
| es | Glaucoma secundario a esferofaquia/ectopia lentis y megalocórnea | |
| it | Glaucoma secondario a sferofachia/dislocazione del cristallino e megalocornea | |
| nl | Glaucoom secundair aan sferofakie/ectopia lentis en megalocornea | Megalocornea - sferofakie - secundair glaucoom-syndroom |
| pt | Megalocórnea - esferofaquia - glaucoma secundário | |
| pl | Jaskra wtórna do soczewki kulistej/ektopia soczewki i rogówka olbrzymia | Rogówka olbrzymia - soczewka kulista - jaskra wtórna |
| cs | Sekundární glaukom se sférofakií/ectopia lentis a megalokornea | Syndrom zahrnující megalokornea, sférofakii a sekundární glaukom |
| uk | Глаукома, вторинна по відношенню до сферофакії/ектопії кришталика та мегалокорнеа | Синдром мегалокорнеа-сферофакії-вторинної глаукоми |
| zh | 球形晶状体/晶状体异位及巨角膜继发性青光眼 | 巨角膜-球形晶状体-继发性青光眼综合征 |
| tr | Sferofakya/ektopya lentis ve megalokorneaya sekonder glokom | Megalokornea-sferofaki-sekonder glokom sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251750 | NTBT | validated | |
| ICD-10 | Q15.8 | NTBT | attributed | validated |
| ICD-11 | LA11.1 | NTBT | attributed | validated |
| MONDO | 0016559 | E | validated | |
| UMLS | C5190883 | E | validated | |
| GARD | 10942 | 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:98631Congenital malformation of the eye with glaucoma as a major feature
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:525677Genetic congenital malformation of the eye with glaucoma as a major feature
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LTBP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6715 | ENSG00000119681 | 602091 | 14q24.3 | latent transforming growth factor beta binding protein 2 | 20179738[PMID]_22025892[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 22025892[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22025892[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/238763
- This record as JSON: /data/d/238763.json