Craniometaphyseal dysplasia, autosomal recessive

Preferred Label : Craniometaphyseal dysplasia, autosomal recessive;

Symbol : CMDR;

CISMeF acronym : CMDR;

Type : Phenotype, molecular basis known;

Description : Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997). The delineation of separate autosomal dominant (CMDD; 123000) and autosomal recessive forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, whereas the recessive form is rare, severe, and possibly heterogeneous.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gap junction protein, alpha-1 gene (GJA1, 121014.0021);

Prefixed ID : #218400;

Details

Origin ID

218400;

UMLS CUI

C2931244;

Automatic exact mappings (from CISMeF team)
- Craniometaphyseal dysplasia [ORDO Disease]
- GJA1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Craniometaphyseal dysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- Craniometaphyseal dysplasia, autosomal recessive type [MeSH concept]
- autosomal recessive craniometaphyseal dysplasia [DO Concept]
- craniometaphyseal dysplasia, autosomal recessive type [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive craniometaphyseal dysplasia [DO Concept]
Genes related to phenotype
- Gap junction protein, alpha-1 [OMIM gene]
HPO term(s)
- Abnormal nasopharynx morphology [HPO term]
- Abnormal thorax morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bony paranasal bossing [HPO term]
- Broad alveolar ridges [HPO term]
- Club-shaped distal femur [HPO term]
- Coarse facial features [HPO term]
- Delayed eruption of permanent teeth [HPO term]
- Depressed nasal ridge [HPO term]
- Facial hyperostosis [HPO term]
- Facial palsy [HPO term]
- Flared metaphysis [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Macrocephaly [HPO term]
- Mandibular prognathia [HPO term]
- Metaphyseal dysplasia [HPO term]
- Mixed hearing impairment [HPO term]
- Nasal congestion [HPO term]
- Optic atrophy [HPO term]
- Patchy sclerosis of finger phalanx [HPO term]
- Telecanthus [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Craniometaphyseal dysplasia [ORDO Disease]
See also inter- (CISMeF)
- craniometaphyseal dysplasia, autosomal dominant [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniometaphyseal dysplasia, autosomal recessive type [MeSH concept]
- craniometaphyseal dysplasia, autosomal recessive type [MeSH Supplementary Concept]

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