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Entry Name Description Category Pathway Gene
H00074 Canavan disease ... is an autosomal recessive neurodegenerative disorder associated with mutations of the gene encoding aspartoacylase (ASPA). In humans, the CD syndrome is marked by early onset, hydrocephalus, macroencephaly ... Inherited metabolic disorder ASPA [HSA:443] [KO:K01437]
H00105 Mannose-binding lectin pathway component defects
Lectin complement activation pathway, defect in (LCAPD) 		... Inherited MASP-2 deficiency has been described as the result of a mutation causing the exchange of aspartic acid with a glycine at position 105, a position in the first domain, CUB1, involved in calcium ... Primary immunodeficiency (LCAPD1) MBL2 [HSA:4153] [KO:K03991]
(LCAPD2) MASP2 [HSA:10747] [KO:K03993]
(LCAPD3) FCN3 [HSA:8547] [KO:K10104]
H00145 Aspartylglucosaminuria Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by deficiency of aspartylglucosaminidase, which is a key enzyme in the catabolism of N-linked oligosaccharides of ... Inherited metabolic disorder, Lysosomal disease AGA [HSA:175] [KO:K01444]
H00266 Hereditary spastic paraplegia Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive distal limb weakness and lower extremity spasticity. Nervous system disease (SPG1) L1CAM [HSA:3897] [KO:K06550]
(SPG2) PLP1 [HSA:5354] [KO:K17271]
(SPG3) ATL1 [HSA:51062] [KO:K17339]
(SPG4) SPAST [HSA:6683] [KO:K13254]
(SPG5) CYP7B1 [HSA:9420] [KO:K07430]
(SPG6) NIPA1 [HSA:123606] [KO:K19364]
(SPG7) SPG7 [HSA:6687] [KO:K09552]
(SPG8) WASHC5 [HSA:9897] [KO:K18464]
(SPG9) ALDH18A1 [HSA:5832] [KO:K12657]
(SPG10) KIF5A [HSA:3798] [KO:K10396]
(SPG11) SPG11 [HSA:80208] [KO:K19026]
(SPG12) RTN2 [HSA:6253] [KO:K20722]
(SPG13) HSPD1 [HSA:3329] [KO:K04077]
(SPG15) ZFYVE26 [HSA:23503] [KO:K19027]
(SPG17) BSCL2 [HSA:26580] [KO:K19365]
(SPG18A/18B) ERLIN2 [HSA:11160] [KO:K23341]
(SPG20) SPART [HSA:23111] [KO:K19366]
(SPG21) SPG21 [HSA:51324] [KO:K19367]
(SPG23) DSTYK [HSA:25778] [KO:K16288]
(SPG26) B4GALNT1 [HSA:2583] [KO:K00725]
(SPG28) DDHD1 [HSA:80821] [KO:K13619]
(SPG30) KIF1A [HSA:547] [KO:K10392]
(SPG31) REEP1 [HSA:65055] [KO:K17338]
(SPG33) ZFYVE27 [HSA:118813] [KO:K19368]
(SPG35) FA2H [HSA:79152] [KO:K19703]
(SPG39) PNPLA6 [HSA:10908] [KO:K14676]
(SPG42) SLC33A1 [HSA:9197] [KO:K03372]
(SPG43) C19orf12 [HSA:83636] [KO:K23168]
(SPG44) GJC2 [HSA:57165] [KO:K07619]
(SPG45) NT5C2 [HSA:22978] [KO:K01081]
(SPG46) GBA2 [HSA:57704] [KO:K17108]
(SPG47) AP4B1 [HSA:10717] [KO:K12401]
(SPG48) AP5Z1 [HSA:9907] [KO:K19025]
(SPG49) TECPR2 [HSA:9895] [KO:K23881]
(SPG50) AP4M1 [HSA:9179] [KO:K12402]
(SPG51) AP4E1 [HSA:23431] [KO:K12400]
(SPG52) AP4S1 [HSA:11154] [KO:K12403]
(SPG53) VPS37A [HSA:137492] [KO:K12185]
(SPG54) DDHD2 [HSA:23259] [KO:K16545]
(SPG55) MTRFR [HSA:91574] [KO:K23498]
(SPG56) CYP2U1 [HSA:113612] [KO:K07422]
(SPG57) TFG [HSA:10342] [KO:K09292]
(SPG61) ARL6IP1 [HSA:23204] [KO:K24864]
(SPG62) ERLIN1 [HSA:10613] [KO:K23341]
(SPG63) AMPD2 [HSA:271] [KO:K01490]
(SPG64) ENTPD1 [HSA:953] [KO:K01510]
(SPG70) MARS1 [HSA:4141] [KO:K01874]
(SPG72A/72B) REEP2 [HSA:51308] [KO:K17338]
(SPG73) CPT1C [HSA:126129] [KO:K19524]
(SPG74) IBA57 [HSA:200205] [KO:K22073]
(SPG75) MAG [HSA:4099] [KO:K06771]
(SPG76) CAPN1 [HSA:823] [KO:K01367]
(SPG77) FARS2 [HSA:10667] [KO:K01889]
(SPG78) ATP13A2 [HSA:23400] [KO:K13526]
(SPG79A/79B) UCHL1 [HSA:7345] [KO:K05611]
(SPG80) UBAP1 [HSA:51271] [KO:K24629]
(SPG81) SELENOI [HSA:85465] [KO:K00993]
(SPG82) PCYT2 [HSA:5833] [KO:K00967]
(SPG83) HPDL [HSA:84842] [KO:K24788]
(SPG84) PI4KA [HSA:5297] [KO:K00888]
(SPG85) RNF170 [HSA:81790] [KO:K15707]
(SPG86) ABHD16A [HSA:7920] [KO:K25824]
(SPG87) TMEM63C [HSA:57156] [KO:K21989]
(SPG88) KPNA3 [HSA:3839] [KO:K23583]
(SPG89) AMFR [HSA:267] [KO:K10636]
(SPG90A/90B) SPTSSA [HSA:171546] [KO:K26384]
(SPG91) SPTAN1 [HSA:6709] [KO:K06114]
H00871 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ... and dorsal column dysfunction, often leading to wheelchair dependency before age 30 years. LBSL is caused by mutations in the gene DARS2, which codes for mitochondrial aspartyl-tRNA synthetase (mtAspRS). Inherited metabolic disorder, Mitochondrial disease DARS2 [HSA:55157] [KO:K01876]
H00911 Dicarboxylic aminoaciduria ... (DA) is an autosomal recessive disorder characterized by a striking excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate ... Inherited metabolic disorder SLC1A1 [HSA:6505] [KO:K05612]
H01386 Asparagine synthetase deficiency ... and intractable seizures. Recessive mutations in the ASNS gene, encoding asparagine synthetase which catalyzes the synthesis of asparagine from glutamine and aspartate, are responsible for this syndrome. Inherited metabolic disorder ASNS [HSA:440] [KO:K01953]
H02255 FDLAB syndrome
Traboulsi syndrome 		... filtering blebs (FDLAB) syndrome, also known as Traboulsi syndrome, is an autosomal recessive disorder. FDLAB syndrome is caused by mutations in ASPH that encodes aspartyl/asparaginyl beta-hydroxylase. Congenital malformation ASPH [HSA:444] [KO:K00476]
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