ORPHA:2084
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Synonyms: GEMSS syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome | GEMSS syndrome |
| fr | Syndrome de glaucome-ectopie du cristallin-sphérophakie-raideur articulaire-petite taille | Syndrome GEMSS |
| de | Glaukom-Ektopia lentis-Mikrosphärophakie-steife Gelenke-Kleinwuchs-Syndrom | GEMSS-Syndrom |
| es | Síndrome de glaucoma-ectopia lentis-microesferofaquia-rigidez articular-talla baja | Síndrome GEMSS |
| it | Glaucoma - ectopia - sferofachia - rigidità articolare - bassa statura | Sindrome GEMSS |
| nl | Glaucoom - ectopia lentis - microsferofakie - stijve gewrichten - kleine gestalte-syndroom | GEMSS-syndroom |
| pt | Síndrome de glaucoma-ectopia do cristalino-microesferofaquia-rigidez articular-baixa estatura | Síndrome Gemss |
| pl | Jaskra - ektopia - soczewka mała i kulista - sztywność stawów - niski wzrost | Zespół Gemssa |
| cs | Syndrom zahrnující glaukom, ektopii, mikrosférofakii, ztuhlé klouby a nízký vzrůst | GEMSS syndrom |
| uk | Синдром глаукоми-ектопії кришталика-мікросферофакії-рухливості суглобів- низького зросту | Синдром GEMSS |
| zh | 青光眼-晶状体异位-小球形晶状体-关节僵硬-身材矮小综合征 | GEMSS综合征 |
| tr | Glokom-ektopia lentis-mikrosferofaki-sert eklemler-kısa boy sendromu | GEMSS sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608328 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0012013 | E | validated | |
| MeSH | C537679 | E | validated | |
| UMLS | C2931588 | E | validated | |
| GARD | 2452 | 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:519292Syndromic ectopia lentis
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522554Syndromic genetic ectopia lentis
rare genetic diseases - ORPHA:519294Syndromic microspherophakia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FBN1 | Candidate gene tested in | Not yet 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 |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 1519650[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1519650[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.
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HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001083 | Ectopia lentis | |
| HP:0000501 | Glaucoma | |
| HP:0004322 | Short stature | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2084
- This record as JSON: /data/d/2084.json