Symphalangism, proximal, 1a

Preferred Label : Symphalangism, proximal, 1a;

Symbol : SYM1A;

CISMeF acronym : SYM1A; SYM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cushing symphalangism; Hereditary absence of the proximal interphalangeal joints; SYM1;

Description : Proximal symphalangism (SYM1) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness (summary by Takahashi et al., 2001). - Genetic Heterogeneity of Proximal Symphalangism Another form of proximal symphalangism (SYM1B; 615298) is caused by mutation in the GDF5 gene (601146);

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the mouse Noggin gene (NOG, 602991.0001);

Prefixed ID : #185800;

Details

Origin ID

185800;

UMLS CUI

C3714899;

Automatic exact mappings (from CISMeF team)
- Proximal symphalangism [ICD-11 More detail]
- mitochondrial inner membrane protein MPV17 [ORDO Gene]
Currated CISMeF NLP mapping
- Cushing's symphalangism [MeSH concept]
- Proximal foot symphalangism [HPO term]
- Proximal symphalangism [HPO term]
- Proximal symphalangism [ORDO Disease]
- cushing's symphalangism [MeSH Supplementary Concept]
- proximal symphalangism [DO Concept]
DO Cross reference
- proximal symphalangism [DO Concept]
Genes related to phenotype
- Noggin [OMIM gene]
HPO term(s)
- Aplasia/Hypoplasia of the middle phalanges of the hand [HPO term]
- Aplasia/Hypoplasia of the middle phalanges of the toes [HPO term]
- Autosomal dominant inheritance [HPO term]
- Carpal synostosis [HPO term]
- Conductive hearing impairment [HPO term]
- Distal symphalangism of hands [HPO term]
- Metacarpophalangeal synostosis [HPO term]
- Proximal symphalangism of hands [HPO term]
- Short 5th metacarpal [HPO term]
- Stapes ankylosis [HPO term]
- Tarsal synostosis [HPO term]
ORDO concept(s)
- Proximal symphalangism [ORDO Disease]
See also inter- (CISMeF)
- Proximal interphalangeal joint symphalangism Cushing type (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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