Details of Disease

General Information of Disease (ID: DIS3O072)

• Disease Name: Sterol carrier protein 2 deficiency
• Synonyms: leukoencephalopathy with dystonia and motor neuropathy; leukoencephalopathy - dystonia - motor neuropathy; LKDMN; SCP2 deficiency; sterol carrier protein 2 deficiency; leukoencephalopathy-dystonia-motor neuropathy syndrome
• Definition: A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.
• Disease Hierarchy:
  DISVY1TT: Leukodystrophy
  DIS4V9MP: Disorder of peroxisomal beta oxidation
  DIS3O072: Sterol carrier protein 2 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013391
  UMLS CUI: C3150990
  OMIM ID: 613724
  MedGen ID: 462340
  Orphanet ID: 163684

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCP2	OTPAFCPQ	Strong	Autosomal recessive	[1]

References

• [1] Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. Am J Hum Genet. 2006 Jun;78(6):1046-52. doi: 10.1086/503921. Epub 2006 Mar 29.