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Entry Name Description Category Pathway Gene
H00849 Cerebral creatine deficiency syndrome Cerebral creatine deficiency syndrome (CCDS) is a group of inborn errors of creatine metabolism, that includes X-linked creatine deficiency syndrome (CCDS1), guanidinoacetate methyltransferase deficiency ... Inherited metabolic disorder (CCDS1) SLC6A8 [HSA:6535] [KO:K05041]
(CCDS2) GAMT [HSA:2593] [KO:K00542]
(CCDS3) GATM [HSA:2628] [KO:K00613]
H01198 Fanconi renotubular syndrome Fanconi renotubular syndrome (FRTS) is a disease resulting from a generalized dysfunction of the proximal kidney tubule leading to decreased solute and water reabsorption. Patients had a generalized proximal ... Inherited metabolic disorder (FRTS1) GATM [HSA:2628] [KO:K00613]
(FRTS2) SLC34A1 [HSA:6569] [KO:K14683]
(FRTS3) EHHADH [HSA:1962] [KO:K07514]
(FRTS4) HNF4A [HSA:3172] [KO:K07292]
(FRTS5) NDUFAF6 [HSA:137682] [KO:K18163]
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