ODCs

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2 OMIM references -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
21 signs/symptoms

Craniometaphyseal dysplasia

Adult-onset autosomal dominant leukodystrophy

ANKH	(UniProt - OMIM)		LMNB1	(UniProt - OMIM)
GJA1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GJA1	(0.63)	LMNB1

Citations in the biomedical literature:

Craniometaphyseal dysplasia		Adult-onset autosomal dominant leukodystrophy
	Synonym(s): - CMD		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: - Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance - Visual loss / blindness / amblyopia

Craniometaphyseal dysplasia		Adult-onset autosomal dominant leukodystrophy
	Very frequent - 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		Very frequent - Ataxia / incoordination / trouble of the equilibrium - Motor deficit / trouble - Total / partial trisomy / duplication Frequent - Abnormal gait - Constipation - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Hypertonia / spasticity / rigidity / stiffness - Hypotension - Impotence / painful erection / priapism / erection troubles - Nystagmus - Sphincter dysfunction - Tremor Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Elocution disorders / dysarthria / dysphonia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hearing loss / hypoacusia / deafness - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Intellectual deficit / mental / psychomotor retardation / learning disability