Blepharophimosis, ptosis, and epicanthus inversus

Preferred Label : Blepharophimosis, ptosis, and epicanthus inversus;

Symbol : BPES;

CISMeF acronym : BPES;

Type : Phenotype, molecular basis known;

Included titles and symbols : Bpes, type I; Bpes with ovarian failure; Bpes, type II; Bpes without ovarian failure; Bpes with duane retraction syndrome;

Inheritance : Autosomal dominant; Autosomal recessive (less common);

Molecular basis : Caused by mutation in the forkhead transcription factor FOXL2 gene (FOXL2, 605597.0001);

Prefixed ID : #110100;

Détails

Origin ID

110100;

UMLS CUI

C0220663;

Automatic exact mappings (from CISMeF team)
- BPES type I [MedDRA LLT]
- BPES type II [MedDRA LLT]
- FOXL2 wt Allele [NCIt concept]
- bpes with duane retraction syndrome [MeSH concept]
- bpes with duane retraction syndrome [MeSH Supplementary Concept]
- bpes with ovarian failure [MeSH concept]
- bpes without ovarian failure [MeSH concept]
- symbol withdrawn BPES [HGNC gene]
Currated CISMeF NLP mapping
- 3q23 deletion [ICD-11 More detail]
- BPES syndrome [MedDRA Preferred Term]
- Blepharophimosis - epicanthus inversus - ptosis [ICD-11 More detail]
- Blepharophimosis epicanthus inversus ptosis syndrome (disorder) [SNOMED CT concept]
- Blepharophimosis, ptosis, and epicanthus inversus syndrome [MedDRA LLT]
- Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome [ORDO Disease]
- Blepharophimosis-ptosis-epicanthus inversus syndrome [ORDO Disease]
- blepharophimosis syndrome [SNOMED Notion]
- blepharophimosis syndrome type 1 [MeSH Supplementary Concept]
- blepharophimosis syndrome type 2 [MeSH Supplementary Concept]
- blepharophimosis, ptosis, and epicanthus inversus [MeSH concept]
- blepharophimosis, ptosis, and epicanthus inversus [MeSH Supplementary Concept]
- blepharophimosis, ptosis, and epicanthus inversus syndrome [DO Concept]
DO Cross reference
- blepharophimosis, ptosis, and epicanthus inversus syndrome [DO Concept]
Genes related to phenotype
- Forkhead transcription factor foxl2 [OMIM gene]
HPO term(s)
- Amenorrhea [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Cupped ear [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus inversus [HPO term]
- Female infertility [HPO term]
- Flat, broad nasal bridge [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hypermetropia [HPO term]
- Hypoplasia of the uterus [HPO term]
- Increased circulating gonadotropin level [HPO term]
- Irregular menstruation [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Nystagmus [HPO term]
- Poorly formed pinnae [HPO term]
- Premature ovarian insufficiency [HPO term]
- Ptosis [HPO term]
- Sparse pubic hair [HPO term]
- Strabismus [HPO term]
- Telecanthus [HPO term]
- Wide nasal bridge [HPO term]
Not associated HPO term(s)
- Abnormality of the breast [HPO term]
ORDO concept(s)
- Blepharophimosis-ptosis-epicanthus inversus syndrome [ORDO Disease]
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus [ORDO Disease]
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 [ORDO Disease]
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 [ORDO Disease]
See also inter- (CISMeF)
- blepharophimosis [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3q23 deletion [ICD-11 More detail]
- BPES syndrome [MedDRA Preferred Term]
- Blepharophimosis epicanthus inversus ptosis syndrome (disorder) [SNOMED CT concept]
- Blepharophimosis syndrome (disorder) [SNOMED CT concept]
- Blepharophimosis, ptosis, and epicanthus inversus syndrome [MedDRA LLT]
- Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome [ORDO Disease]
- Blepharophimosis-ptosis-epicanthus inversus syndrome [ORDO Disease]
- blepharophimosis syndrome [SNOMED Notion]
- blepharophimosis, ptosis, and epicanthus inversus [MeSH Supplementary Concept]
- blepharophimosis, ptosis, and epicanthus inversus [MeSH concept]
- blepharophimosis, ptosis, and epicanthus inversus syndrome [DO Concept]

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