Details of Disease

General Information of Disease (ID: DISMHFVM)

Disease Name Alkaline ceramidase 3 deficiency
Synonyms leukodystrophy, progressive, early childhood-onset; PLDECO; ACER3-related early childhood-onset progressive leukodystrophy; leukodystrophy due to alkaline ceramidase 3 deficiency
Disease Hierarchy
DISVY1TT: Leukodystrophy
DISMHFVM: Alkaline ceramidase 3 deficiency
Disease Identifiers
MONDO ID
MONDO_0044718
UMLS CUI
C4540358
OMIM ID
617762
MedGen ID
1622324
Orphanet ID
502444
SNOMED CT ID
1237515001

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
ACER3 OTIVQBG5 Strong Autosomal recessive [1]
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References

1 Deficiency of alkaline ceramidase 3 with infancy-onset progressive leukoencephalopathy: a second case report. Acta Neurol Belg. 2021 Dec;121(6):1867-1870. doi: 10.1007/s13760-020-01474-4. Epub 2020 Aug 20.