Defective B4GALT7 causes EDS, progeroid type

Stable Identifier
R-HSA-3560783
Type
Pathway
Species
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

Okajima, T, Fukumoto, S, Furukawa, K, Urano, T

J Biol Chem 1999
Participants
Participant Of
Disease
Name Identifier Synonyms
Ehlers-Danlos syndrome 13359 Cutis hyperelastica, elastic skin
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