ORPHA:247794
Juvenile cataract-microcornea-renal glucosuria syndrome
Synonyms: Juvenile cataract-microcornea-renal glycosuria syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juvenile cataract-microcornea-renal glucosuria syndrome | Juvenile cataract-microcornea-renal glycosuria syndrome |
| fr | Syndrome de cataracte juvénile-microcornée-glucosurie rénale | Syndrome de cataracte juvénile-microcornée-glycosurie rénale |
| de | Juvenile Katarakt-Mikrokornea-renale Glukosurie-Syndrom | |
| es | Síndrome de catarata juvenil-microcórnea-glucosuria renal | Síndrome de catarata juvenil-microcórnea-glicosuria renal |
| it | Cataratta giovanile - microcornea - glicosuria renale | |
| nl | Juveniel cataract - microcornea - renale glucosurie-syndroom | Juveniel cataract - microcornea - renale glycosurie-syndroom |
| pt | Síndrome de catarata juvenil-microcórnea-glicosúria renal | |
| pl | Zaćma młodzieńcza - mała rogówka - cukromocz nerkowy | = en |
| cs | Syndrom zahrnující juvenilní katarakta, mikrokornea a renální glykosurii | = en |
| uk | Синдром ювенільної катаракти-мікророгівки-ниркової глюкозурії | Синдром ювенільної катаракти-мікророгівки-ниркової глікозурії |
| zh | 青少年性白内障合并小角膜-肾性糖尿综合征 | 青少年性白内障合并小角膜-肾性糖尿综合征 |
| tr | Juvenil katarakt-mikrokornea-renal glukozüri sendromu | jüvenil katarakt-mikrokornea-renal glikozüri sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612018 | E | validated | |
| ICD-10 | H26.0 | NTBT | attributed | validated |
| ICD-11 | 9B10.1Y | NTBT | attributed | validated |
| MONDO | 0012786 | E | validated | |
| UMLS | C4302529 | 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 (4):
- ORPHA:309001Disorder of carbohydrate absorption and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC16A12 | Disease-causing germline mutation(s) in | Assessed | HGNC:23094 | ENSG00000152779 | 611910 | 10q23.31 | solute carrier family 16 member 12 | 18304496[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 18304496[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18304496[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247794
- This record as JSON: /data/d/247794.json