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2 OMIM references -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
14 associated genes
No signs/symptoms info
Craniometaphyseal dysplasia
Leigh syndrome with leukodystrophy

ANKH COX10
GJA1 LIPT1
NDUFA10
NDUFA2
NDUFAF6
NDUFS1
NDUFS3
NDUFS4
NDUFS7
NDUFS8
NDUFV1
SDHA
SLC19A3
SURF1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Craniometaphyseal dysplasia
ANKH GJA1
Leigh syndrome with leukodystrophy
COX10 LIPT1 NDUFA10 NDUFA2 NDUFAF6 NDUFS1
NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 SDHA
SLC19A3 SURF1



Craniometaphyseal dysplasia
Leigh syndrome with leukodystrophy

Synonym(s):
- CMD

Synonym(s):
- Infantile subacute necrotizing encephalopathy with leukodystrophy
- Leigh disease with leukodystrophy

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- 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:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Craniometaphyseal dysplasia

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


Leigh syndrome with leukodystrophy

(no data available)