Leukoencephalopathy with Dystonia and Motor Neuropathy (LKDMN)

Alias:
Sterol Carrier Protein 2 Deficiency
Leukoencephalopathy-Dystonia-Motor Neuropathy Syndrome
Lkdmn
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leukoencephalopathy with Dystonia and Motor Neuropathy, also known as sterol carrier protein 2 deficiency, is related to atherosclerosis susceptibility and lipid metabolism disorder, and has symptoms including spasmodic torticollis An important gene associated with Leukoencephalopathy with Dystonia and Motor Neuropathy is SCP2 (Sterol Carrier Protein 2). Affiliated tissues include pons and thalamus, and related phenotypes are hearing impairment and azoospermia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
5
1

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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