Details of Disease

General Information of Disease (ID: DIS8I9FS)

Disease Name Hereditary disorder of connective tissue
Synonyms
Hereditary Connective Tissue Disorder; inherited disorder of connective tissue; Inherited disorder of connective tissue; hereditary connective tissue disorder; Mendelian connective tissue disorder; connective tissue hereditary disorder
Definition An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.
Disease Hierarchy
DISYKSRF: Genetic disease
DISKXBS3: Connective tissue disorder
DIS8I9FS: Hereditary disorder of connective tissue
Disease Identifiers
MONDO ID
MONDO_0023603
UMLS CUI
C0410787
MedGen ID
473110
SNOMED CT ID
363045008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FBN1 OTYCJT63 Strong Genetic Variation [1]
FBN2 OT3KYJQL Strong Genetic Variation [2]
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References

1 Fibrillin-1 in the Vasculature: In Vivo Accumulation of eGFP-Tagged Fibrillin-1 in a Knockin Mouse Model.Anat Rec (Hoboken). 2020 Jun;303(6):1590-1603. doi: 10.1002/ar.24217. Epub 2019 Jul 13.
2 Prenatal diagnosis in congenital contractural arachnodactyly.Genet Test. 1997-1998;1(4):293-6. doi: 10.1089/gte.1997.1.293.