Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement

Preferred Label : Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;

Symbol : CFEOM3A;

CISMeF acronym : CFEOM3A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Feom3 locus;

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. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 (135700). CFEOM2 (602078) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tubulin beta-3 gene (TUBB3, 602661.0001);

Prefixed ID : #600638;

Details

Origin ID

600638;

UMLS CUI

C2748801;

Automatic exact mappings (from CISMeF team)
- Congenital fibrosis of extraocular muscles [ORDO Disease]
- TUBB3 wt Allele [NCIt concept]
- fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [MeSH Supplementary Concept]
- fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [MeSH concept]
- symbol withdrawn FEOM3 [HGNC gene]
- tubulin beta 3 class III [ORDO Gene]
- tubulin beta 3 class III [HGNC gene]
Broader ORDO disease(s)
- Congenital fibrosis of extraocular muscles [ORDO Disease]
DO Cross reference
- congenital fibrosis of the extraocular muscles [DO Concept]
Genes related to phenotype
- Tubulin, beta-3 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Amblyopia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axonal peripheral neuropathy [HPO term]
- Camptodactyly of finger [HPO term]
- Compensatory chin elevation [HPO term]
- Congenital fibrosis of extraocular muscles [HPO term]
- Exotropia [HPO term]
- Facial palsy [HPO term]
- Global developmental delay [HPO term]
- Joint contracture of the hand [HPO term]
- Levator palpebrae superioris atrophy [HPO term]
- Nonprogressive restrictive external ophthalmoplegia [HPO term]
- Ophthalmoplegia, nonprogressive restrictive, bilateral or unilateral [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Ptosis [HPO term]
- Specific learning disability [HPO term]
- Superior rectus atrophy [HPO term]
- Wrist flexion contracture [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, 3A, with or without extraocular involvement [MeSH Supplementary Concept]
- fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [MeSH concept]

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