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GTR Home > Conditions/Phenotypes > Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome

Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome

Synonyms
ARTHROGRYPOSIS, DISTAL, TYPE 5; ARTHROGRYPOSIS, DISTAL, TYPE IIB; Arthrogryposis Multiple Congenita, Ophthalmoplegia, Ptosis; Arthrogryposis with oculomotor limitation and electroretinal abnormalities; Oculomelic amyoplasia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009). There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and Marden-Walker syndrome (MWKS; 248700), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition. For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120). Genetic Heterogeneity of Distal Arthrogryposis 5 A subtype of DA5 due to mutation in the ECEL1 gene (605896) on chromosome 2q36 has been designated DA5D (615065). See NOMENCLATURE. [from OMIM]

Available tests

14 tests are in the database for this condition.

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Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C18orf30, C18orf58, DA3, DA5, DAIPT, FAM38B, FAM38B2, HsT748, HsT771, MWKS, PIEZO2
    Summary: piezo type mechanosensitive ion channel component 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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