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1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Adult-onset autosomal dominant leukodystrophy

1 OMIM reference -
1 associated gene
21 signs/symptoms

Sitosterolemia

Adult-onset autosomal dominant leukodystrophy

ABCG5	(UniProt - OMIM)		LMNB1	(UniProt - OMIM)
ABCG8	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ABCG8	(0.63)	LMNB1

Citations in the biomedical literature:

Sitosterolemia		Adult-onset autosomal dominant leukodystrophy
	Synonym(s): - Phytosterolemia - Xanthomatosis with sisterolemia		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537345		External references: 1 OMIM reference - No MeSH references

Adult-onset autosomal dominant leukodystrophy
	Very frequent - Ataxia / incoordination / trouble of the equilibrium - Autosomal dominant inheritance - 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 - Visual loss / blindness / amblyopia
Sitosterolemia
(no data available)