Arthrogryposis, distal, type 5

Preferred Label : Arthrogryposis, distal, type 5;

Symbol : DA5;

CISMeF acronym : DAIIB; DA5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DAIIB; Oculomelic amyoplasia; Arthrogryposis with oculomotor limitation and electroretinal abnormalities; Arthrogryposis, distal, type iib;

Description : Distal arthrogryposis type 5 is distinguished from other forms of DA by including 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). 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.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the PIEZO-type mechanosensitive ion channel component 2 gene (PIEZO2, 613629.0001);

Prefixed ID : #108145;

Details

Origin ID

108145;

UMLS CUI

C1862472;

Automatic exact mappings (from CISMeF team)
- Distal arthrogryposis type 2B (disorder) [SNOMED CT concept]
- Sheldon-Hall syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Arthrogryposis - ophthalmoplegia - retinopathy [ICD-11 More detail]
- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome [ORDO Disease]
- Distal arthrogryposis type 5 (disorder) [SNOMED CT concept]
- Oculomelic amyoplasia [MeSH concept]
- distal arthrogryposis type 5 [DO Concept]
- oculomelic amyoplasia [MeSH Supplementary Concept]
DO Cross reference
- distal arthrogryposis [DO Concept]
- distal arthrogryposis type 5 [DO Concept]
Genes related to phenotype
- Piezo-type mechanosensitive ion channel component 2 [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Abnormal rib cage morphology [HPO term]
- Abnormality of retinal pigmentation [HPO term]
- Absent phalangeal crease [HPO term]
- Arachnodactyly [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral talipes equinovarus [HPO term]
- Blepharophimosis [HPO term]
- Clinodactyly [HPO term]
- Congenital finger flexion contractures [HPO term]
- Decreased facial expression [HPO term]
- Decreased muscle mass [HPO term]
- Decreased palmar creases [HPO term]
- Deeply set eye [HPO term]
- Distal arthrogryposis [HPO term]
- Duane anomaly [HPO term]
- Epicanthus [HPO term]
- Firm muscles [HPO term]
- High palate [HPO term]
- Hypermetropia [HPO term]
- Keratoconus [HPO term]
- Keratoglobus [HPO term]
- Limited wrist extension [HPO term]
- Ophthalmoplegia [HPO term]
- Pectus excavatum [HPO term]
- Prominent ears [HPO term]
- Protruding ear [HPO term]
- Ptosis [HPO term]
- Restrictive ventilatory defect [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Triangular face [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome [ORDO Disease]
- Distal arthrogryposis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis - ophthalmoplegia - retinopathy [ICD-11 More detail]
- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome [ORDO Disease]
- Distal arthrogryposis type 5 (disorder) [SNOMED CT concept]
- Oculomelic amyoplasia [MeSH concept]
- distal arthrogryposis type 5 [DO Concept]
- oculomelic amyoplasia [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- distal arthrogryposis [DO Concept]

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