Fibrosis of extraocular muscles, congenital, 1

Preferred Label : Fibrosis of extraocular muscles, congenital, 1;

Symbol : CFEOM1;

CISMeF acronym : CFEOM1; CFEOM3B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ophthalmoplegia, congenital; Blepharoptosis with absent eye movements; Feom1 locus;

Included titles and symbols : Fibrosis of extraocular muscles, congenital, 3b; CFEOM3B;

Description : Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline. Involvement of the horizontal extraocular muscles is variable. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as 'CFEOM1' (Engle et al., 1997; Heidary et al., 2008).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the kinesin family member 21A gene (KIF21A, 608283.0001);

Prefixed ID : #135700;

Details

Origin ID

135700;

UMLS CUI

C1851102;

Automatic exact mappings (from CISMeF team)
- Congenital fibrosis of extraocular muscles [HPO term]
- Congenital fibrosis of extraocular muscles [ORDO Disease]
- Congenital fibrosis of extraocular muscles 3B [ICD-11 More detail]
- fibrosis of extraocular muscles, congenital, 3B [MeSH concept]
- fibrosis of extraocular muscles, congenital, 3B [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Congenital fibrosis of extraocular muscles [ORDO Disease]
Currated CISMeF NLP mapping
- fibrosis of extraocular muscles, congenital, 1 [MeSH concept]
DO Cross reference
- congenital fibrosis of the extraocular muscles [DO Concept]
Genes related to phenotype
- Kinesin family member 21a [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral ptosis [HPO term]
- Compensatory chin elevation [HPO term]
- Congenital fibrosis of extraocular muscles [HPO term]
- Esotropia [HPO term]
- Exotropia [HPO term]
- Levator palpebrae superioris atrophy [HPO term]
- Restrictive external ophthalmoplegia [HPO term]
- Restrictive external opthalmoplegia, bilateral [HPO term]
- Secondary esotropia [HPO term]
- Sensory exotropia [HPO term]
- Superior rectus atrophy [HPO term]
ORDO concept(s)
- Congenital fibrosis of extraocular muscles [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- fibrosis of extraocular muscles, congenital, 1 [MeSH concept]

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