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Entry Name Description Category Pathway Gene
H00146 Alpha-N-acetylgalactosaminidase deficiency Alpha-N-acetylgalactosaminidase (NAGA) deficiency is an autosomal recessive lysosomal storage disorder caused by deficiency of alpha-N-acetylgalactosaminidase, which removes terminal alpha-GalNAc monosaccharides ... Inherited metabolic disorder, Lysosomal disease NAGA [HSA:4668] [KO:K01204]
H00422 Glycoproteinoses Glycoproteinoses are a group of autosomal recessive lysosomal storage diseases caused by deficient activities of enzymes that play important roles in the degradation of glycoproteins such as N-linked or ... Inherited metabolic disorder, Lysosomal disease (Sialidosis, Galactosialidosis) NEU1 [HSA:4758] [KO:K01186]
(Galactosialidosis) CTSA [HSA:5476] [KO:K13289]
(Galactosialidosis) GLB1 [HSA:2720] [KO:K12309]
(alpha-Mannosidosis) MAN2B1 [HSA:4125] [KO:K12311]
(beta-Mannosidosis) MANBA [HSA:4126] [KO:K01192]
(AGU) AGA [HSA:175] [KO:K01444]
(Fucosidosis) FUCA1 [HSA:2517] [KO:K01206]
(Schindler/ Kanzaki) NAGA [HSA:4668] [KO:K01204]
H00723 Non-epidermolytic palmoplantar keratoderma ... palmar and plantar surfaces surrounded by erythema. NEPPK is divided into the focal form (FNEPPK), the focal or diffuse form (PPKNEFD), the diffuse Bothnian form (PPKB), Nagashima form (PPKN), and so on. Congenital malformation (NEPPK) KRT16 [HSA:3868] [KO:K07604]
(PPKNEFD) KRT6C [HSA:286887] [KO:K07605]
H02264 Palmoplantar keratoderma, Nagashima type Palmoplantar keratoderma Nagashima type (PPKN) is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis characterized by diffuse hyperkeratosis with redness, expanding on to the dorsal surfaces ... Congenital malformation SERPINB7 [HSA:8710] [KO:K13964]
H02483 Basel-Vanagaite-Smirin-Yosef syndrome Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) is a syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability ... Congenital malformation MED25 [HSA:81857] [KO:K15168]
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