Details of Disease

General Information of Disease (ID: DISODKL0)

Disease Name Hypomyelinating leukodystrophy 11
Synonyms leukodystrophy, hypomyelinating, 11; POLR1C leukodystrophy; leukodystrophy caused by mutation in POLR1C; hypomyelinating leukodystrophy type 11; leukodystrophy, hypomyelinating, type 11; HLD11
Definition
Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163) and from the 'reproductive system disorder' (MONDO:0005039) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0002-2825-0621)
Disease Hierarchy
DISVY1TT: Leukodystrophy
DISODKL0: Hypomyelinating leukodystrophy 11
Disease Identifiers
MONDO ID
MONDO_0014666
UMLS CUI
C4225305
OMIM ID
616494
MedGen ID
897960

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
POLR1C OT7DVQB0 Strong Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.