Craniometaphyseal dysplasia, autosomal dominant

Preferred Label : Craniometaphyseal dysplasia, autosomal dominant;

Symbol : CMDD;

CISMeF acronym : CMDD; CMD; CMDJ;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Craniometaphyseal dysplasia, jackson type; CMD; CMDJ;

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 and autosomal recessive (CMDR; 218400) 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, while the recessive form is rare, severe, and possibly heterogeneous.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ANHK inorganic pyrophosphate transport regulator gene (ANKH, 605145.0001);

Prefixed ID : #123000;

Details

Origin ID

123000;

UMLS CUI

C1852502;

Automatic exact mappings (from CISMeF team)
- Campomelic Dysplasia [NCIt concept]
- Congenital muscular dystrophy [ORDO Disease]
- Coronary Microvascular Disease [NCIt concept]
- Craniometaphyseal dysplasia [ORDO Disease]
- GDC Comorbidity Method of Diagnosis Terminology [NCIt concept]
- Microvascular angina [ICD-11 More detail]
- cardiomyopathy, dilated [MeSH Descriptor]
Broader ORDO disease(s)
- Craniometaphyseal dysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant craniometaphyseal dysplasia [DO Concept]
- craniometaphyseal dysplasia, autosomal dominant [MeSH concept]
- craniometaphyseal dysplasia, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- craniometaphyseal dysplasia [DO Concept]
Genes related to phenotype
- Ankh inorganic pyrophosphate transport regulator [OMIM gene]
HPO term(s)
- 'erlenmeyer flask' deformity of distal femur [HPO term]
- Abnormal nasopharynx morphology [HPO term]
- Abnormality of pelvic girdle bone morphology [HPO term]
- Abnormality of the vertebral column [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bony paranasal bossing [HPO term]
- Calvarial osteosclerosis [HPO term]
- Club-shaped distal femur [HPO term]
- Erlenmeyer flask deformity of the femurs [HPO term]
- Facial palsy [HPO term]
- Hypertelorism [HPO term]
- Macrocephaly [HPO term]
- Mandibular prognathia [HPO term]
- Metaphyseal widening [HPO term]
- Mixed hearing impairment [HPO term]
- Nasal congestion [HPO term]
- Sclerosis of skull base [HPO term]
- Tooth malposition [HPO term]
Not associated HPO term(s)
- Short stature [HPO term]
ORDO concept(s)
- Craniometaphyseal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- craniometaphyseal dysplasia, autosomal dominant [MeSH Supplementary Concept]
- craniometaphyseal dysplasia, autosomal dominant [MeSH concept]

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