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Entry Name Description Category Pathway Gene
H02451 Congenital disorder of glycosylation with defective fucosylation ... (CDGF) is a rare inherited metabolic disorder due to abnormalities in fucosylation, which is an enzymatic process of incorporating L-fucose into the N- and O-glycans of proteins or glycolipids. Fucosylation ... Inherited metabolic disorder (CDGF1) FUT8 [HSA:2530] [KO:K00717]
(CDGF2) FCSK [HSA:197258] [KO:K05305]
H02469 Cone-rod synaptic disorder ... and a normal fundus appearance. Recently, It has been reported that mutations in RIMS2 cause a syndromic congenital cone-rod synaptic disease (CRSDS) with neurodevelopmental and pancreatic involvement. Nervous system disease (CRSD) CABP4 [HSA:57010] [KO:K23531]
(CRSDS) RIMS2 [HSA:9699] [KO:K15297]
H02488 Cardiac-urogenital syndrome Cardiac-urogenital syndrome (CUGS) is characterized by congenital diaphragmatic hernia, congenital heart disease and genitourinary abnormalities. Mutations in MYRF have been identified in patients. MYRF ... Congenital malformation MYRF [HSA:745] [KO:K24768]
H02516 Alcoholic liver disease ... caused via generation of acetaldehyde, reactive oxygen species (ROS) and ER stress. ROS inhibits key hepatic transcriptional regulators such as AMP-activated protein kinase (AMPK) and peroxisome proliferator-activated ... Digestive system disease hsa04936 Alcoholic liver disease
H02520 Phosphoenolpyruvate carboxykinase deficiency ... carboxykinase deficiency (PCKD) is a rare disorder of gluconeogenesis presenting with recurrent hypoglycemia, hepatic dysfunction, and lactic acidosis. There are two discrete subcellular isoforms of phosphoenolpyruvate ... Inherited metabolic disorder (PCKDC) PCK1 [HSA:5105] [KO:K01596]
(PCKDM) PCK2 [HSA:5106] [KO:K01596]
H02609 Craniodiaphyseal dysplasia ... autosomal dominant sclerotic bone disorder characterized by distinctive facial dysmorphism-prominent zygomatic bones, broadening of the center of the face, hypertelorism, a small upturned tip of the nose, prominent ... Musculoskeletal disease SOST [HSA:50964] [KO:K16834]
H02619 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome ... (HADDTS) is caused by a pathogenic CTBP1 missense mutation. CTBP1 is the transcriptional corepressor. The enzymatic constituents of the CTBP1 corepressor complex mediate coordinated histone modifications. Congenital malformation CTBP1 [HSA:1487] [KO:K04496]
H02631 Melorheostosis ... asymmetric bone overgrowth and functional impairment. Recent studies indicate that most cases arise from somatic MAP2K1 mutations although a small number may arise from other genes in related pathways. Musculoskeletal disease MAP2K1 [HSA:5604] [KO:K04368]
H02647 Macrodactyly ... consisting of enlargement of all tissues localized to the terminal portions of a limb. Macrodactyly is attributed to a somatic mutation in PIK3CA, a component of the mTOR pathway-related overgrowth disorders. Congenital malformation PIK3CA [HSA:5290] [KO:K00922]
H02722 Nevus comedonicus ... noninflammatory background and following the lines of Blaschko. The cause of NC has been proven to be somatic mutations of the NEK9 gene. NEK9 is a serine/threonine kinase that functions as an important regulator ... Congenital malformation NEK9 [HSA:91754] [KO:K20878]
H02731 Transient infantile hypertriglyceridemia ... and NAD+. The hypertriglyceridemia is associated with hepatomegaly and moderately elevated transaminases that may decrease later in life, persistent fatty liver, and the development of hepatic fibrosis. Inherited metabolic disorder GPD1 [HSA:2819] [KO:K00006]
H02751 Orthostatic hypotension Orthostatic hypotension (ORTHYP) is caused by an excessive fall of cardiac output or by defective or inadequate vasoconstrictor mechanisms. Characteristic symptoms include lightheadedness, dizziness, and ... Cardiovascular disease (ORTHYP1) DBH [HSA:1621] [KO:K00503]
(ORTHYP2) CYB561 [HSA:1534] [KO:K08360]
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