ORPHA:1380
Cataract-nephropathy-encephalopathy syndrome
historical
Synonyms: Crome syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cataract-nephropathy-encephalopathy syndrome | Crome syndrome |
| fr | Syndrome de cataracte-néphropathie-encéphalopathie | Syndrome de Crome |
| de | Katarakt-Nephropathie-Enzephalopathie-Syndrom | Crome-Syndrom |
| es | Síndrome de catarata-nefropatía-encefalopatía | |
| it | Cataratta - nefropatia - encefalopatia | Sindrome di Crome |
| nl | Cataract - nefropathie - encefalopathie-syndroom | Syndroom van Crome |
| pt | Síndrome de catarata-nefropatia-encefalopatia | Síndrome Crome |
| pl | Zaćma - neuropatia - encefalopatia | Zespół Crome'a |
| cs | Syndrom zahrnující kataraktu, nefropatii a encefalopatii | Cromeův syndrom |
| uk | Синдром катаракти - нефропатії - енцефалопатії | Синдром Крома |
| zh | 白内障-肾病-脑病综合征 | Crome综合征 |
| tr | Katarakt-nefropati-ensefalopati sendromu | Crome sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 218900 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009045 | E | validated | |
| MeSH | C536216 | E | validated | |
| UMLS | C0795914 | E | validated | |
| GARD | 1614 | 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 (5):
- ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:93603Rare renal tubular disease
rare renal diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 14065995[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_14065995[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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000518 | Cataract | |
| HP:0001249 | Intellectual disability | |
| HP:0000124 | Renal tubular dysfunction | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000639 | Nystagmus | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1380
- This record as JSON: /data/d/1380.json