ORPHA:572361
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
Synonyms: BPES type 2 · Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- active
This disease is described under Blepharophimosis-ptosis-epicanthus inversus syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 | BPES type 2 · Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure |
| fr | Syndrome de blépharophimosis-ptosis-épicanthus inversus type 2 | BPES type 2 · Syndrome de blépharophimosis-ptosis-épicanthus inversus sans insuffisance ovarienne précoce |
| de | Blepharophimose-Ptosis-Epicanthus inversus-Syndrom Typ 2 | BPES Typ 2 · Blepharophimose-Ptosis-Epicanthus inversus-Syndrom ohne vorzeitige Ovarialinsuffizienz |
| es | Síndrome de blefarofimosis-ptosis-epicanto inverso tipo 2 | BPES tipo 2 · Síndrome de blefarofimosis-ptosis-epicanto inverso sin fallo ovárico prematuro |
| it | Sindrome da blefarofimosi, ptosi, epicanto inverso tipo 2 | BPES tipo 2 · Sindrome da blefarofimosi, ptosi, epicanto inverso senza insufficienza ovarica precoce |
| nl | Blefarofimose - ptose - epicanthus inversus-syndroom type 2 | BPES type 2 · Blefarofimose - ptose - epicanthus inversus-syndroom zonder prematuur ovariumfalen |
| pt | Síndrome de blefarofimose-ptose-epicanto inverso tipo 2 | BPES tipo 2 · Síndrome de blefarofimose-ptose-epicantus inverso sem falência ovárica prematura |
| pl | Zespół zwężenia szpar powiekowych, opadania powiek i odwróconych fałdów nakątnych typu 2 | = en |
| cs | Syndrom zahrnující blefarofimózu, ptózu a epicanthus inversus, typ 2 | = en |
| uk | Синдром блефарофімозу-птозу-зворотнього епікантусу, тип 2 | Синдром блефарофімозу-птозу-епікантуса без передчасної оваріальної недостатності · BPES тип 2 |
| zh | 睑裂狭小-上睑下垂-倒转型内眦赘皮综合征2型 | = en |
| tr | Blefarofimoz-pitoz-epikantus inversus sendromu tip 2 | BPES tip 2 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 110100 | NTBT | validated | |
| ICD-10 | Q10.3 | NTBT | attributed | validated |
| ICD-11 | LD21.Y | NTBT | attributed | validated |
| MONDO | 0035525 | E | validated | |
| UMLS | C5680363 | 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:126Blepharophimosis-ptosis-epicanthus inversus syndrome
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 |
|---|---|---|---|---|---|---|---|---|
| FOXL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1092 | ENSG00000183770 | 605597 | 3q22.3 | forkhead box L2 | 30029625[PMID]_31823134[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/572361
- This record as JSON: /data/d/572361.json