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Entry | Name | Description | Category | Pathway | Gene |
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H00070 | Galactosemia | Galactosemia (GALAC) is an autosomal recessive disorder caused by a defect in one of the enzyme genes for galactose metabolism. Newborns with the enzyme deficiency cannot properly metabolize milk sugar ... | Inherited metabolic disorder |
(GALAC1) GALT [HSA:2592] [KO:K00965] (GALAC2) GALK1 [HSA:2584] [KO:K00849] (GALAC3) GALE [HSA:2582] [KO:K01784] (GALAC4) GALM [HSA:130589] [KO:K01785] |
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H00119 | Congenital disorders of glycosylation type II | Congenital disorders of glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG-II is defined by mutations in genes encoding enzymes in the processing ... | Inherited metabolic disorder |
(CDG2A) MGAT2 [HSA:4247] [KO:K00736] (CDG2B) GCS1 [HSA:7841] [KO:K01228] (CDG2C) SLC35C1 [HSA:55343] [KO:K15279] (CDG2D) B4GALT1 [HSA:2683] [KO:K07966] (CDG2E) COG7 [HSA:91949] [KO:K20294] (CDG2F) SLC35A1 [HSA:10559] [KO:K15272] (CDG2G) COG1 [HSA:9382] [KO:K20288] (CDG2H) COG8 [HSA:84342] [KO:K20295] (CDG2I) COG5 [HSA:10466] [KO:K20292] (CDG2J) COG4 [HSA:25839] [KO:K20291] (CDG2K) TMEM165 [HSA:55858] [KO:K23541] (CDG2L) COG6 [HSA:57511] [KO:K20293] (CDG2M) SLC35A2 [HSA:7355] [KO:K15272] (CDG2N) SLC39A8 [HSA:64116] [KO:K14714] (CDG2O) CCDC115 [HSA:84317] [KO:K23543] (CDG2P) TMEM199 [HSA:147007] [KO:K23542] (CDG2Q) COG2 [HSA:22796] [KO:K20289] (CDG2R) ATP6AP2 [HSA:10159] [KO:K19514] (CDG2S) ATP6AP1 [HSA:537] [KO:K03662] (CDG2T) GALNT2 [HSA:2590] [KO:K00710] (CDG2V) EDEM3 [HSA:80267] [KO:K10086] (CDG2W) SLC37A4 [HSA:2542] [KO:K08171] (CDG2Y) GET4 [HSA:51608] [KO:K23387] (CDG2Z) CAMLG [HSA:819] [KO:K22385] (CDG2AA) STX5 [HSA:6811] [KO:K08490] (CDG2BB) COG3 [HSA:83548] [KO:K20290] |
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H00877 | Brain small vessel disease | Brain small vessel disease (BSVD) cause lacunar infarcts, cerebral microbleeds, or diffuse white matter diseases. Approximately 5% of BSVDs are considered hereditary, with an extremely young age of onset ... | Cardiovascular disease |
(BSVD1) COL4A1 [HSA:1282] [KO:K06237] (BSVD2) COL4A2 [HSA:1284] [KO:K06237] (BSVD3) COLGALT1 [HSA:79709] [KO:K11703] |
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H01075 | Peters anomaly | ... Peters-plus syndrome is a rare autosomal recessive genetic disorder including ocular features, systemic malformations, and variable degree of developmental delay. It is caused by mutations in B3GALTL gene. | Congenital malformation | B3GALTL [HSA:145173] [KO:K13675] | |
H01494 | SEMD with joint laxity type | ... 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] |
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H02008 |
Galactose-1P uridylyltransferase deficiency Classic galactosemia Galactosemia type I |
Galactosemia type I results from mutations in GALT encoding the galactose-1-phosphate uridylyltransferase. It is the most commonly detected clinically severe form of galactosemia. Patients may develop ... | Inherited metabolic disorder | GALT [HSA:2592] [KO:K00965] | |
H02239 | Ehlers-Danlos syndrome, spondylodysplastic type | ... spondylodysplastic 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 ... | Congenital malformation |
(EDSSPD1) B4GALT7 [HSA:11285] [KO:K00733] (EDSSPD2) B3GALT6 [HSA:126792] [KO:K00734] (EDSSPD3) SLC39A13 [HSA:91252] [KO:K14719] |
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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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