Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a

Preferred Label : Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a;

Symbol : CPSFS1A;

CISMeF acronym : DA8; CPSFS1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multiple pterygium syndrome, autosomal dominant; Pterygium syndrome, multiple; AUTOSOMAL DOMINANT; DA8; Arthrogryposis, distal, type 8; Contractures, pterygia, and variable skeletal fusions syndrome 1a; CPSKF1A;

Description : For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the embryonic skeletal muscle myosin heavy chain-3 gene (MYH3, 160720.0009);

Prefixed ID : #178110;

Details

Origin ID

178110;

UMLS CUI

C1867440;

Automatic exact mappings (from CISMeF team)
- Autosomal Dominant Inheritance [NCIt concept]
- Autosomal dominant inheritance [HPO term]
- Autosomal dominant inheritance (qualifier value) [SNOMED CT concept]
- Autosomal dominant multiple pterygium syndrome [ICD-11 More detail]
- chloride voltage-gated channel 1 [HGNC gene]
- phosphodiesterase 6B [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant multiple pterygium syndrome [ORDO Disease]
- Autosomal dominant multiple pterygium syndrome (disorder) [SNOMED CT concept]
- multiple pterygium syndrome, autosomal dominant [MeSH concept]
- multiple pterygium syndrome, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- multiple pterygium syndrome [DO Concept]
Genes related to phenotype
- Myosin, heavy chain 3, skeletal muscle, embryonic [OMIM gene]
HPO term(s)
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Camptodactyly [HPO term]
- Carpal synostosis [HPO term]
- Cleft palate [HPO term]
- Craniosynostosis [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elbow flexion contracture [HPO term]
- Hearing impairment [HPO term]
- Hemivertebrae [HPO term]
- Hip contracture [HPO term]
- Knee flexion contracture [HPO term]
- Long nasal bridge [HPO term]
- Low-set, posteriorly rotated ears [HPO term]
- Microcephaly [HPO term]
- Multiple pterygia [HPO term]
- Pectus carinatum [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Spondylolisthesis [HPO term]
- Tarsal synostosis [HPO term]
- Vertebral fusion [HPO term]
ORDO concept(s)
- Autosomal dominant multiple pterygium syndrome [ORDO Disease]
See also inter- (CISMeF)
- Multiple pterygium syndrome [MeSH concept]
- Multiple pterygium syndrome [ICD-11 Sub-sub category]
- Multiple pterygium syndrome [ORDO Disease]
- Multiple pterygium syndrome (disorder) [SNOMED CT concept]
- multiple pterygium syndrome [MeSH Supplementary Concept]
- multiple pterygium syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant multiple pterygium syndrome [ORDO Disease]
- Autosomal dominant multiple pterygium syndrome (disorder) [SNOMED CT concept]
- multiple pterygium syndrome, autosomal dominant [MeSH Supplementary Concept]
- multiple pterygium syndrome, autosomal dominant [MeSH concept]

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