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Entry Name Description Category Pathway Gene
H01494 SEMD with joint laxity type ... Beighton type) and type 2 (SEMDJL2, SEMD-leptodactylic or Hall type). SEMDJL1 is caused by mutation in the B3GALT6 gene. The individuals with SEMDJL1 show the characteristic vertebral abnormalities, ligamentous ... Congenital malformation (SEMDJL1) B3GALT6 [HSA:126792] [KO:K00734]
(SEMDJL2) KIF22 [HSA:3835] [KO:K10403]
(SEMDJL3) EXOC6B [HSA:23233] [KO:K19985]
H02239 Ehlers-Danlos syndrome, spondylodysplastic type ... type (EDSSPD) is a rare autosomal recessive connective tissue disorder, caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. The majority of EDSSPD patients presented with short stature, skin hyperextensibility ... Congenital malformation (EDSSPD1) B4GALT7 [HSA:11285] [KO:K00733]
(EDSSPD2) B3GALT6 [HSA:126792] [KO:K00734]
(EDSSPD3) SLC39A13 [HSA:91252] [KO:K14719]
H02436 Al-Gazali syndrome ... abnormalities with anterior segment anomalies of the eye and early lethality. Pathogenic variants in B3GALT6 have been reported to cause ALGAZ. This gene encodes an essential component of the glycosaminoglycan ... Congenital malformation B3GALT6 [HSA:126792] [KO:K00734]
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