Details of Disease

General Information of Disease (ID: DISBN8XM)

Disease Name Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Synonyms harp syndrome; hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Disease Hierarchy
DISYKSRF: Genetic disease
DISBN8XM: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Disease Identifiers
MONDO ID
MONDO_0011798
MESH ID
C564603
UMLS CUI
C1846582
OMIM ID
607236
MedGen ID
337612
Orphanet ID
157855

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANKS4B OT1MREUS Strong Biomarker [1]
SMARCAL1 OTTKXLUZ Strong Biomarker [1]
PANK2 OTFBW889 Definitive Autosomal recessive [1]
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References

1 HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. Neurology. 2002 Jun 11;58(11):1673-4. doi: 10.1212/wnl.58.11.1673.