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Entry Name Description Category Pathway Gene
H00104 Alternative complement pathway component defects The alternative pathway (AP) is antibody independent and relies on native C3 undergoing minimal spontaneous hydrolysis. Hydrolyzed C3 binds factor B. Factor B, when bound to hydrolyzed C3, is cleaved by ... Primary immunodeficiency (CFBD) CFB [HSA:629] [KO:K01335]
(CFDD) CFD [HSA:1675] [KO:K01334]
(CFHD) CFH [HSA:3075] [KO:K04004]
(CFPD) CFP [HSA:5199] [KO:K15412]
H00221 Combined deficiency of factors V and VIII Combined deficiency of factors V and VIII (F5F8D) is caused by mutations in LMAN1 or MCFD2, which form a complex working as a cargo receptor for transport of coagulation factors V and VIII from ER to Golgi Hematologic disease LMAN1 [HSA:3998] [KO:K10080]
MCFD2 [HSA:90411] [KO:K20364]
H00675 Acrocapitofemoral dysplasia Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by short stature with brachydactyly, a narrow thorax, and a relatively large head. Radiographically, cone-shaped ... Congenital malformation IHH [HSA:3549] [KO:K11989]
H00995 Combined deficiency of vitamin K-dependent clotting factors Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a rare congenital bleeding disorder consisting of a deficiency of clotting factors II, VII, IX, and X , as well as the coagulation inhibitors ... Cardiovascular disease (VKCFD1) GGCX [HSA:2677] [KO:K10106]
(VKCFD2) VKORC1 [HSA:79001] [KO:K05357]
H01220 Congenital cataracts, facial dysmorphism, and neuropathy Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) syndrome is a rare autosomal recessive, complex developmental disorder exclusively manifested in the Roma population. CCFDN is a genetically ... Congenital malformation CTDP1 [HSA:9150] [KO:K15732]
H02271 Cerebellofaciodental syndrome Cerebellofaciodental syndrome (CFDS) is an autosomal recessive disorder characterized by cerebellar hypoplasia and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly ... Congenital malformation BRF1 [HSA:2972] [KO:K15196]
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