ORPHA:98949
Complete cryptophthalmia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
This disease is described under Isolated cryptophthalmia
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Complete cryptophthalmia | |
| fr | Cryptophtalmie complète | |
| de | Kryptophthalmie, komplette | |
| es | Criptoftalmia completa | |
| it | Criptoftalmia completa | |
| nl | Volledige cryptoftalmie | |
| pt | Criptoftalmia completa | |
| pl | Skrytoocze całkowite | |
| cs | Kompletní kryptoftalmie | |
| uk | Повна криптофтальмія | |
| zh | 完全隐眼 | |
| tr | Tam kriptoftalmi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q11.2 | NTBT | attributed | validated |
| ICD-11 | LA14.01 | NTBT | index | validated |
| MONDO | 0020360 | E | validated | |
| UMLS | C5437887 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:91396Isolated cryptophthalmia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FREM2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:25396 | ENSG00000150893 | 608945 | 13q13.3 | FRAS1 related extracellular matrix 2 | 29688405[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16352480[PMID] |
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 16352480[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.
6
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/98949
- This record as JSON: /data/d/98949.json