ORPHA:91411
Congenital ptosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital ptosis is characterized by superior eyelid drop present at birth.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital ptosis | |
| fr | Ptosis congénital | |
| de | Ptosis, kongenitale | |
| es | Ptosis congénita | |
| it | Ptosi congenita | |
| nl | Congenitale ptosis | Congenitale ptose |
| pt | Ptose congénita | |
| pl | Opadanie powiek wrodzone | |
| cs | Vrozená ptóza | |
| uk | Вроджений птоз | |
| zh | 先天性上睑下垂 | |
| tr | Doğumsal pitozis |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 178300 | E | validated | |
| OMIM | 300245 | BTNT | validated | |
| OMIM | 616219 | ND | validated | |
| ICD-10 | Q10.0 | E | specific | validated |
| ICD-11 | LA14.04 | E | specific | validated |
| MONDO | 8340 | E | validated | |
| UMLS | C0266573 | E | validated | |
| MedDRA | 10015996 | 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:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZFHX4 | Candidate gene tested in | Not yet assessed | HGNC:30939 | ENSG00000091656 | 606940 | 8q21.13 | zinc finger homeobox 4 | 11935336[PMID]_17987257[PMID] |
| COL25A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:18603 | ENSG00000188517 | 610004 | 4q25 | collagen type XXV alpha 1 chain | 26486031[PMID]_25500261[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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/91411
- This record as JSON: /data/d/91411.json