Megalencephalic leukoencephalopathy with subcortical cysts 1

Preferred Label : Megalencephalic leukoencephalopathy with subcortical cysts 1;

Symbol : MLC1;

CISMeF acronym : VL; MLC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Van der knaap disease; LVM; VL; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts; Leukoencephalopathy with swelling and cysts;

Description : Megalencephalic leukoencephalopathy with subcortical cysts is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline (summary by Lopez-Hernandez et al., 2011). - Genetic Heterogeneity of Megalencephalic Leukoencephalopathy with Subcortical Cysts See also MLC2A (613925), which is caused by homozygous or compound heterozygous mutation in the HEPACAM gene (611642), and MLC2B (613926), which is caused by heterozygous mutation in the HEPACAM gene.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the MLC1 gene (MLC1, 605908.0001);

Prefixed ID : #604004;

Details

Origin ID

604004;

UMLS CUI

C5779875;

Automatic exact mappings (from CISMeF team)
- MLC1 gene [LOINC component]
- Visceral leishmaniasis [MedDRA Preferred Term]
- infection by leishmania donovani [SNOMED Notion]
- leishmaniasis, visceral [MeSH Descriptor]
- leishmaniasis, visceral [MeSH concept]
- megalencephalic leukoencephalopathy with subcortical cysts [DO Concept]
- megalencephalic leukoencephalopathy with subcortical cysts 1 [DO Concept]
- modulator of VRAC current 1 [HGNC gene]
- modulator of VRAC current 1 [ORDO Gene]
- ventral lateral nucleus of thalamus [UBERON concept]
Currated CISMeF NLP mapping
- Megalencephalic leukoencephalopathy with subcortical cysts [MeSH concept]
- Megalencephalic leukoencephalopathy with subcortical cysts [ORDO Disease]
- Megalencephalic leukoencephalopathy with subcortical cysts (disorder) [SNOMED CT concept]
- Van der Knaap disease [Disease (Nov.)]
- megalencephalic leukoencephalopathy with subcortical cysts [MeSH Supplementary Concept]
DO Cross reference
- megalencephalic leukoencephalopathy with subcortical cysts 1 [DO Concept]
Genes related to phenotype
- Modulator of vrac current 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Diffuse spongiform leukoencephalopathy [HPO term]
- Diffuse swelling of cerebral white matter [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, mild [HPO term]
- Macrocephaly [HPO term]
- Megalencephaly [HPO term]
- Motor delay [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Megalencephalic leukoencephalopathy with subcortical cysts [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Megalencephalic leukoencephalopathy with subcortical cysts [MeSH concept]
- Megalencephalic leukoencephalopathy with subcortical cysts [ORDO Disease]
- Megalencephalic leukoencephalopathy with subcortical cysts (disorder) [SNOMED CT concept]
- Van der Knaap disease [Disease (Nov.)]
- megalencephalic leukoencephalopathy with subcortical cysts [MeSH Supplementary Concept]
- megalencephalic leukoencephalopathy with subcortical cysts [DO Concept]
- megalencephalic leukoencephalopathy with subcortical cysts 1 [DO Concept]

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