Details of Disease

General Information of Disease (ID: DISB81YD)

Disease Name Severe neurodegenerative syndrome with lipodystrophy
Synonyms encephalopathy, progressive, with or without lipodystrophy; PELD; severe neurodegenerative syndrome due to BSCL2 deficiency
Disease Hierarchy
DISPN7D2: Inherited neurodegenerative disorder
DIS1BE1A: Hereditary lipodystrophy
DISP9UN3: Mendelian encephalopathy
DISB81YD: Severe neurodegenerative syndrome with lipodystrophy
Disease Identifiers
MONDO ID
MONDO_0014402
UMLS CUI
C4014700
OMIM ID
615924
MedGen ID
863137
Orphanet ID
363400

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
BSCL2 OT73V6Y4 Strong Autosomal recessive [1]
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References

1 A new seipin-associated neurodegenerative syndrome. J Med Genet. 2013 Jun;50(6):401-9. doi: 10.1136/jmedgenet-2013-101525. Epub 2013 Apr 6.