Pseudoachondroplasia

Preferred Label : Pseudoachondroplasia;

Symbol : PSACH;

CISMeF acronym : PSACH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pseudoachondroplastic dysplasia; Spondyloepiphyseal dysplasia, pseudoachondroplastic;

Description : Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature, deformity of the lower limbs, brachydactyly, loose joints, and ligamentous laxity. Vertebral anomalies, present in childhood, usually resolve with age, but osteoarthritis is progressive and severe. PSACH and EDM1 comprise a clinical spectrum with phenotypic overlap between mild forms of PSACH and EDM1 (summary by Briggs and Chapman, 2002).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in cartilage oligomeric matrix protein (COMP, 600310.0001);

Prefixed ID : #177170;

Details

Origin ID

177170;

UMLS CUI

C0410538;

Automatic exact mappings (from CISMeF team)
- COMP wt Allele [NCIt concept]
- Pseudochondroplasia (disorder) [SNOMED CT concept]
- symbol withdrawn PSACH [HGNC gene]
Currated CISMeF NLP mapping
- Pseudoachondroplasia [PASCAL descriptor]
- Pseudoachondroplasia [NCIt concept]
- Pseudoachondroplasia [ICD-11 Sub-sub category]
- Pseudoachondroplasia [MeSH concept]
- Pseudoachondroplasia [ORDO Disease]
- Pseudoachondroplastic dysplasia [ACR pathology]
- Pseudoachondroplastic dysplasia [ACR pathology]
- Pseudoachondroplastic spondyloepiphyseal dysplasia [PASCAL descriptor]
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder) [SNOMED CT concept]
- pseudoachondroplasia [DO Concept]
- pseudoachondroplasia [Disease (Nov.)]
- pseudoachondroplasia [MeSH Supplementary Concept]
- pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [SNOMED Notion]
DO Cross reference
- pseudoachondroplasia [DO Concept]
Genes related to phenotype
- Cartilage oligomeric matrix protein [OMIM gene]
HPO term(s)
- Arthralgia [HPO term]
- Atlantoaxial dislocation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Beaking of vertebral bodies [HPO term]
- Brachydactyly [HPO term]
- Carpal bone hypoplasia [HPO term]
- Cervical cord compression [HPO term]
- Cervical cord compression myelopathy [HPO term]
- Childhood onset short-limb short stature [HPO term]
- Delayed epiphyseal ossification [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Flared femoral metaphysis [HPO term]
- Fragmented epiphyses [HPO term]
- Fragmented, irregular epiphyses [HPO term]
- Genu recurvatum [HPO term]
- Genu valgum [HPO term]
- Genu varum [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Irregular carpal bones [HPO term]
- Irregular epiphyses [HPO term]
- Joint laxity [HPO term]
- Kyphosis [HPO term]
- Limited elbow extension [HPO term]
- Limited hip abduction/extension [HPO term]
- Limited hip extension [HPO term]
- Limited shoulder movement [HPO term]
- Lumbar hyperlordosis [HPO term]
- Metaphyseal irregularity [HPO term]
- Metaphyseal widening [HPO term]
- Osteoarthritis [HPO term]
- Platyspondyly [HPO term]
- Radial metaphyseal irregularity [HPO term]
- Scoliosis [HPO term]
- Sensory neuropathy [HPO term]
- Short distal phalanx of finger [HPO term]
- Short limb dwarfism, disproportionate [HPO term]
- Short long bone [HPO term]
- Short metacarpal [HPO term]
- Short phalanx of finger [HPO term]
- Small epiphyses [HPO term]
- Small epiphyses of the phalanges of the hand [HPO term]
- Spatulate ribs [HPO term]
- Ulnar deviation of the hand [HPO term]
- Ulnar deviation of the wrist [HPO term]
- Ulnar metaphyseal irregularity [HPO term]
- Waddling gait [HPO term]
- anterior flattening and/or beaking of vertebrae [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Pseudoachondroplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple epiphyseal dysplasia and pseudoachondroplasia [ORDO Disease]
- Pseudoachondroplasia [ORDO Disease]
- Pseudoachondroplasia [MeSH concept]
- Pseudoachondroplasia [PASCAL descriptor]
- Pseudoachondroplasia [NCIt concept]
- Pseudoachondroplasia [ICD-11 Sub-sub category]
- Pseudoachondroplastic dysplasia [ACR pathology]
- Pseudoachondroplastic dysplasia [ACR pathology]
- Pseudoachondroplastic spondyloepiphyseal dysplasia [PASCAL descriptor]
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder) [SNOMED CT concept]
- pseudoachondroplasia [MeSH Supplementary Concept]
- pseudoachondroplasia [DO Concept]
- pseudoachondroplasia [Disease (Nov.)]
- pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [SNOMED Notion]

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