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Defective B4GALT7 causes EDS, progeroid type
Stable Identifier
R-HSA-3560783
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosaminoglycan metabolism (Homo sapiens)
Defective B4GALT7 causes EDS, progeroid type (Homo sapiens)
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Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen types I or III. Abnormal collagen renders connective tissues more elastic. The severity of the mutation can vary from mild to life-threatening. There is no cure and treatment is supportive, including close monitoring of the digestive, excretory and particularly the cardiovascular systems. Defective B4GALT7, a galactosyltransferase important in proteoglycan synthesis, causes the progeroid variant of EDS (MIM:130070). Features include an aged appearance, developmental delay, short stature, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al. 1999).
Literature References
PubMed ID
Title
Journal
Year
10506123
Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene
Fukumoto, S
,
Urano, T
,
Okajima, T
,
Furukawa, K
J Biol Chem
1999
Participants
Events
Defective B4GALT7 does not transfer Gal to xylosyl-unit of the tetrasaccharide linker
(Homo sapiens)
Participates
as an event of
Diseases associated with glycosaminoglycan metabolism (Homo sapiens)
Disease
Name
Identifier
Synonyms
Ehlers-Danlos syndrome
DOID:13359
Cutis hyperelastica, elastic skin
Cross References
BioModels Database
BIOMD0000000930
Authored
Jassal, B (2013-05-21)
Reviewed
Spillmann, D (2014-07-09)
Created
Jassal, B (2013-05-21)
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