Details of Disease

General Information of Disease (ID: DISOPKZD)

Disease Name Progeroid and marfanoid aspect-lipodystrophy syndrome
Synonyms Marfanoid-progeroid syndrome; Marfan-progeroid-lipodystrophy syndrome; MFLS; Marfan lipodystrophy syndrome
Disease Hierarchy
DIS8I9FS: Hereditary disorder of connective tissue
DISOPKZD: Progeroid and marfanoid aspect-lipodystrophy syndrome
Disease Identifiers
MONDO ID
MONDO_0014831
UMLS CUI
C4310796
OMIM ID
616914
MedGen ID
934763
Orphanet ID
300382

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
FBN1 OTYCJT63 Strong Autosomal dominant [1]
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References

1 Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. Am J Med Genet A. 2010 Nov;152A(11):2749-55. doi: 10.1002/ajmg.a.33690.