ORPHA:91396
Isolated cryptophthalmia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated cryptophthalmia | |
| fr | Cryptophtalmie isolée | |
| de | Kryptophthalmie, isolierte | |
| es | Criptoftalmia aislada | |
| it | Criptoftalmia isolata | |
| nl | Geïsoleerde cryptoftalmie | |
| pt | Criptoftalmia isolada | |
| pl | Skrytoocze izolowane | |
| cs | Izolovaná kryptoftalmie | |
| uk | Ізольована криптофтальмія | |
| zh | 孤立型隐眼症 | |
| tr | İzole kriptoftalmi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 123570 | E | validated | |
| ICD-10 | Q11.2 | NTBT | inclusion | validated |
| ICD-11 | LA14.01 | NTBT | specific | validated |
| MONDO | 0007410 | E | validated | |
| UMLS | C4305274 | 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:98562Cryptophthalmia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
4
Genes
0 direct · 1 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| FREM2 | ORPHA:98949Complete cryptophthalmia | 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 | 30 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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91396
- This record as JSON: /data/d/91396.json