Leukoencephalopathy with dystonia and motor neuropathy

Preferred Label : Leukoencephalopathy with dystonia and motor neuropathy;

Symbol : LKDMN;

CISMeF acronym : LKDMN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sterol carrier protein 2 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sterol carrier protein-2 gene (SCP2, 184755.0001);

Prefixed ID : #613724;

Details

Origin ID

613724;

UMLS CUI

C3150990;

Currated CISMeF NLP mapping
- Leukoencephalopathy, dystonia, motor neuropathy syndrome (disorder) [SNOMED CT concept]
- Leukoencephalopathy-dystonia-motor neuropathy syndrome [ORDO Disease]
Genes related to phenotype
- Sterol carrier protein 2 [OMIM gene]
HPO term(s)
- Abnormal motor neuron morphology [HPO term]
- Abnormal saccadic eye movements [HPO term]
- Abnormality of thalamus morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Azoospermia [HPO term]
- Head tremor [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hyposmia [HPO term]
- Intention tremor [HPO term]
- Leukoencephalopathy [HPO term]
- Peripheral neuropathy [HPO term]
- Torticollis [HPO term]
ORDO concept(s)
- Leukoencephalopathy-dystonia-motor neuropathy syndrome [ORDO Disease]
See also inter- (CISMeF)
- Sterol carrier protein deficiency [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leukoencephalopathy-dystonia-motor neuropathy syndrome [ORDO Disease]

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