Details of Disease

General Information of Disease (ID: DISL7LA1)

Disease Name Odontoleukodystrophy
Synonyms dentoleukoencephalopathy; leukodystrophy with oligodontia
Definition
Leukodystrophy with oligodontia is characterized by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
Disease Hierarchy
DISVY1TT: Leukodystrophy
DISL7LA1: Odontoleukodystrophy
Disease Identifiers
MONDO ID
MONDO_0019177
MESH ID
C564344
UMLS CUI
C3502054
MedGen ID
502456
Orphanet ID
77295
SNOMED CT ID
722064003

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
POLR3A OT5MSK10 Definitive Autosomal recessive [1]
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References

1 Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis. Brain. 2019 Apr 1;142(4):e12. doi: 10.1093/brain/awz041.