Arthrogryposis, distal, type 3

Preferred Label : Arthrogryposis, distal, type 3;

Symbol : DA3;

CISMeF acronym : DA3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gordon syndrome; Arthrogryposis multiplex congenita, distal, type iia; Camptodactyly, cleft palate, and clubfoot;

Description : DA3, or Gordon syndrome, is distinguished from other distal arthrogryposes by short stature and cleft palate (summary by Bamshad et al., 2009). 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 PIEZO-type mechanosensitive ion channel component 2 gene (PIEZO2, 613629.0001);

Prefixed ID : #114300;

Details

Origin ID

114300;

UMLS CUI

C0220666;

Automatic exact mappings (from CISMeF team)
- Pseudohypoaldosteronism Type 2 [NCIt concept]
- pseudohypoaldosteronism [MeSH Descriptor]
Currated CISMeF NLP mapping
- Distal arthrogryposis type 3 [ICD-11 More detail]
- Distal arthrogryposis type 3 (disorder) [SNOMED CT concept]
- Gordon syndrome [MedDRA LLT]
- Gordon syndrome [MeSH concept]
- Gordon syndrome [ORDO Disease]
- Gordon's syndrome (disorder) [Inactive SNOMED CT concept]
- distal arthrogryposis type 3 [DO Concept]
- gordon syndrome [MeSH Supplementary Concept]
DO Cross reference
- distal arthrogryposis [DO Concept]
- distal arthrogryposis type 3 [DO Concept]
Genes related to phenotype
- Piezo-type mechanosensitive ion channel component 2 [OMIM gene]
HPO term(s)
- Abnormal rib cage morphology [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Camptodactyly of finger [HPO term]
- Camptodactyly of toe [HPO term]
- Cleft palate [HPO term]
- Congenital hip dislocation [HPO term]
- Contractures of the proximal interphalangeal joints of the fingers [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Decreased hip abduction [HPO term]
- Decreased muscle mass [HPO term]
- Distal arthrogryposis [HPO term]
- Down-sloping shoulders [HPO term]
- Epicanthus [HPO term]
- Facial asymmetry [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Intellectual disability, mild [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Kyphoscoliosis [HPO term]
- Lumbar hyperlordosis [HPO term]
- Micrognathia [HPO term]
- Ophthalmoplegia [HPO term]
- Overlapping toe [HPO term]
- Pectus excavatum [HPO term]
- Ptosis [HPO term]
- Short neck [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Sloping shoulders [HPO term]
- Submucous cleft hard palate [HPO term]
- Submucous cleft lip/palate [HPO term]
- Talipes equinovarus [HPO term]
- Thoracolumbar scoliosis [HPO term]
- Ulnar deviation of the hand or of fingers of the hand [HPO term]
ORDO concept(s)
- Gordon syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal arthrogryposis type 3 (disorder) [SNOMED CT concept]
- Gordon syndrome [MeSH concept]
- Gordon syndrome [ORDO Disease]
- Gordon syndrome [MedDRA LLT]
- Gordon's syndrome (disorder) [Inactive SNOMED CT concept]
- distal arthrogryposis type 3 [DO Concept]
- gordon syndrome [MeSH Supplementary Concept]

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