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2 OMIM references -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
25 associated genes
1 sign/symptom
Craniometaphyseal dysplasia
Isolated NADH-CoQ reductase deficiency

ANKH ACAD9
GJA1 FOXRED1
MT-ND2
MTFMT
NDUFA1
NDUFA11
NDUFA2
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NUBPL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GJA1
(0.63)
NDUFS1



Citations in the biomedical literature:


Craniometaphyseal dysplasia
ANKH GJA1
Isolated NADH-CoQ reductase deficiency
ACAD9 FOXRED1 MT-ND2 MTFMT NDUFA1 NDUFA11
NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4
NDUFAF5 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3
NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2
NUBPL



Craniometaphyseal dysplasia
Isolated NADH-CoQ reductase deficiency

Synonym(s):
- CMD

Synonym(s):
- Isolated NADH-coenzyme Q reductase deficiency
- Isolated NADH-ubiquinone reductase deficiency
- Isolated mitochondrial respiratory chain complex I deficiency

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Craniometaphyseal dysplasia
Isolated NADH-CoQ reductase deficiency

Very frequent
- Autosomal dominant inheritance
- Broad nasal root
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Depressed nasal bridge
- Hypertelorism
- Metaphyseal anomaly
- Osteosclerosis / osteopetrosis / bone condensation

Frequent
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Telecanthus / canthal dystopy

Occasional
- Conductive deafness / hearing loss
- Cranial nerve anomalies
- Facial palsy
- Sensorineural deafness / hearing loss
- Visual loss / blindness / amblyopia


Very frequent
- Organic acid metabolism anomalies