Details of Disease

General Information of Disease (ID: DISWL6YJ)

Disease Name Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Synonyms LCCNS; lipodystrophy, partial, with congenital cataracts and neurodegeneration; lipodystrophy, familial partial, type 7; partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISWL6YJ: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Disease Identifiers
MONDO ID
MONDO_0011714
UMLS CUI
C3807567
OMIM ID
606721
MedGen ID
813897

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CAV1 TTXUBN2 Strong Autosomal dominant [1]
CAV1 TTXUBN2 Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CAV1 OTEZUR1L Strong Autosomal dominant [1]
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References

1 Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia. Lipids Health Dis. 2008 Jan 31;7:3. doi: 10.1186/1476-511X-7-3.
2 Caveolin-1 deficiency leads to increased susceptibility to cell death and fibrosis in white adipose tissue: characterization of a lipodystrophic model.PLoS One. 2012;7(9):e46242. doi: 10.1371/journal.pone.0046242. Epub 2012 Sep 26.