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Entry Name Description Category Pathway Gene
H00202 Hepatic porphyria Hepatic porphyrias are diseases due to marked deficiencies of enzymes in the heme biosynthetic pathway. Clinical manifestations in porphyria are neurovisceral or cutaneous as well as hematic or hepatic Inherited metabolic disorder (PCT) UROD [HSA:7389] [KO:K01599]
(AIP) HMBS [HSA:3145] [KO:K01749]
(VP) PPOX [HSA:5498] [KO:K00231]
(ALADP) ALAD [HSA:210] [KO:K01698]
(HCP) CPOX [HSA:1371] [KO:K00228]
H00593 Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited disorders characterized by progressive muscle weakness that begins from the proximal limb muscles. The disease is not congenital ... Nervous system disease; Musculoskeletal disease (LGMDD1) DNAJB6 [HSA:10049] [KO:K09512]
(LGMDD2) TNPO3 [HSA:23534] [KO:K15436]
(LGMDD3) HNRNPDL [HSA:9987] [KO:K13044]
(LGMDD4/R1) CAPN3 [HSA:825] [KO:K08573]
(LGMDR2) DYSF [HSA:8291] [KO:K18261]
(LGMDR3) SGCA [HSA:6442] [KO:K12565]
(LGMDR4) SGCB [HSA:6443] [KO:K12566]
(LGMDR5) SGCG [HSA:6445] [KO:K12564]
(LGMDR6) SGCD [HSA:6444] [KO:K12563]
(LGMDR7) TCAP [HSA:8557] [KO:K19879]
(LGMDR8) TRIM32 [HSA:22954] [KO:K10607]
(LGMDR9) FKRP [HSA:79147] [KO:K19873]
(LGMDR10) TTN [HSA:7273] [KO:K12567]
(LGMDR11) POMT1 [HSA:10585] [KO:K00728]
(LGMDR12) ANO5 [HSA:203859] [KO:K19480]
(LGMDR13) FKTN [HSA:2218] [KO:K19872]
(LGMDR14) POMT2 [HSA:29954] [KO:K00728]
(LGMDR15) POMGNT1 [HSA:55624] [KO:K09666]
(LGMDR16) DAG1 [HSA:1605] [KO:K06265]
(LGMDR17) PLEC [HSA:5339] [KO:K10388]
(LGMDR18) TRAPPC11 [HSA:60684] [KO:K20308]
(LGMDR19) GMPPB [HSA:29925] [KO:K00966]
(LGMDR20) CRPPA [HSA:729920] [KO:K21031]
(LGMDR21) POGLUT1 [HSA:56983] [KO:K13667]
(LGMDR23) LAMA2 [HSA:3908] [KO:K05637]
(LGMDR24) POMGNT2 [HSA:84892] [KO:K18207]
(LGMDR25) BVES [HSA:11149] [KO:K21108]
(LGMDR26) POPDC3 [HSA:64208] [KO:K26207]
(LGMDR27) JAG2 [HSA:3714] [KO:K21635]
(LGMDR28) HMGCR [HSA:3156] [KO:K00021]
(MDRCMTT) LIMS2 [HSA:55679] [KO:K23354]
(MRRSDC) TOR1AIP1 [HSA:26092] [KO:K23001]
H00837 Leber congenital amaurosis Leber congenital amaurosis (LCA) is a heterogeneous group of severe retinal degenerations, which typically becomes evident in the first year of life. Affected infants have little or no retinal photoreceptor ... Nervous system disease (LCA1) GUCY2D [HSA:3000] [KO:K12321]
(LCA2) RPE65 [HSA:6121] [KO:K11158]
(LCA3) SPATA7 [HSA:55812] [KO:K19655]
(LCA4) AIPL1 [HSA:23746] [KO:K17767]
(LCA5) LCA5 [HSA:167691] [KO:K24828]
(LCA6) RPGRIP1 [HSA:57096] [KO:K16512]
(LCA7) CRX [HSA:1406] [KO:K09337]
(LCA8) CRB1 [HSA:23418] [KO:K16681]
(LCA9) NMNAT1 [HSA:64802] [KO:K06210]
(LCA10) CEP290 [HSA:80184] [KO:K16533]
(LCA11) IMPDH1 [HSA:3614] [KO:K00088]
(LCA12) RD3 [HSA:343035] [KO:K25404]
(LCA13) RDH12 [HSA:145226] [KO:K11153]
(LCA14) LRAT [HSA:9227] [KO:K00678]
(LCA15) TULP1 [HSA:7287] [KO:K19600]
(LCA16) KCNJ13 [HSA:3769] [KO:K05006]
(LCA17) GDF6 [HSA:392255] [KO:K20012]
(LCA18) PRPH2 [HSA:5961] [KO:K17343]
(LCA19) USP45 [HSA:85015] [KO:K11844]
(LCAEOD) TUBB4B [HSA:10383] [KO:K07375]
H00992 Seckel syndrome Seckel syndrome is a recessively inherited dwarfism characterized by intrauterine growth retardation, proportionate postnatal dwarfism, severe microcephaly, micrognathia, and 'bird-headed' profile. Mental ... Congenital malformation (SCKL1) ATR [HSA:545] [KO:K06640]
(SCKL2) RBBP8 [HSA:5932] [KO:K20773]
(SCKL4) CENPJ [HSA:55835] [KO:K11502]
(SCKL5) CEP152 [HSA:22995] [KO:K16728]
(SCKL6) CEP63 [HSA:80254] [KO:K16763]
(SCKL7) NIN [HSA:51199] [KO:K16476]
(SCKL8) DNA2 [HSA:1763] [KO:K10742]
(SCKL9) TRAIP [HSA:10293] [KO:K11985]
(SCKL10) NSMCE2 [HSA:286053] [KO:K22756]
(SCKL11) CEP295 [HSA:85459] [KO:K26251]
H01102 Pituitary adenomas Pituitary adenomas are an important and frequently occurring form of intracranial tumor. They are usually benign but can give rise to severe clinical syndromes due to hormonal excess, or to visual/cranial ... Neoplasm (MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
(CNC) PRKAR1A [HSA:5573] [KO:K04739]
(PITA1) AIP [HSA:9049] [KO:K17767]
(PITA2) GPR101 [HSA:83550] [KO:K08423]
(PITA3) GNAS [HSA:2778] [KO:K04632]
(PITA4) USP8 [HSA:9101] [KO:K11839]
(PITA5) CDH23 [HSA:64072] [KO:K06813]
RASD1 [HSA:51655] [KO:K07843]
H01431 Cushing syndrome ... were identified in almost half of corticotroph adenoma. Germline mutations in MEN1 (encoding menin), AIP (encoding aryl-hydrocarbon receptor-interacting protein), PRKAR1A (encoding cAMP-dependent protein ... Endocrine and metabolic disease hsa04934 Cushing syndrome (MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
(CNC1) PRKAR1A [HSA:5573] [KO:K04739]
(PITA1) AIP [HSA:9049] [KO:K17767]
(PITA2) GPR101 [HSA:83550] [KO:K08423]
(PITA3) GNAS [HSA:2778] [KO:K04632]
(PITA4) USP8 [HSA:9101] [KO:K11839]
(PITA5) CDH23 [HSA:64072] [KO:K06813]
(AIMAH2) ARMC5 [HSA:79798] [KO:K22499]
(PPNAD1) PRKAR1A [HSA:5573] [KO:K04739]
(PPNAD2) PDE11A [HSA:50940] [KO:K13298]
(PPNAD3) PDE8B [HSA:8622] [KO:K18437]
(PPNAD4) PRKACA [HSA:5566] [KO:K04345]
RASD1 [HSA:51655] [KO:K07843]
H01483 Acromegaly ... adenoma (FIPA), which is caused in 15-20% of cases by aryl hydrocarbon receptor interacting protein (AIP) gene germline mutations. Moreover, a recurrent mutation was found in GPR101 in some patients with ... Endocrine and metabolic disease AIP [HSA:9049] [KO:K17767]
GNAS [HSA:2778] [KO:K04632]
GPR101 [HSA:83550] [KO:K08423]
H01716 Idiopathic interstitial pneumonias ... interstitial pneumonia (DIP), cryptogenic organizing pneumonia (COP), and acute interstitial pneumonia (AIP). And they are divided into three major groups; chronic fibrosing IIP (IPF, NSIP), smoking-related ... Respiratory system disease
H01763 Porphyria ... Hepatic porphyrias include ALA-dehydratase deficiency porphyria (ADP), acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT), hereditary coproporphyria (HCP), and variegate porphyria (VP). Recently ... Inherited metabolic disorder (EPP1) FECH [HSA:2235] [KO:K01772]
(EPP2) CLPX [HSA:10845] [KO:K03544]
(CEP) UROS [HSA:7390] [KO:K01719]
(HEP, PCT) UROD [HSA:7389] [KO:K01599]
(ADP) ALAD [HSA:210] [KO:K01698]
(AIP) HMBS [HSA:3145] [KO:K01749]
(HCP) CPOX [HSA:1371] [KO:K00228]
(VP) PPOX [HSA:5498] [KO:K00231]
(XLDPP) ALAS2 [HSA:212] [KO:K00643]
H01864 Excessive secretion of growth hormone Excessive secretion of growth hormone (GH) causes acromegaly [DS:H01483] and pituitary gigantism [DS:H01618]. They have the same pathogenetic mechanism, but differ regarding the age of onset. Gigantism ... Endocrine and metabolic disease AIP [HSA:9049] [KO:K17767]
GPR101 [HSA:83550] [KO:K08423]
H02414 Autoinflammation, panniculitis, and dermatosis syndrome Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an auto-inflammatory disease caused by loss-of-function mutations in OTULIN, encoding a deubiquitinase. Patients present with neonatal-onset ... Immune system disease OTULIN [HSA:90268] [KO:K18343]
H02424 Primary central nervous system lymphoma ... affected by frequent recurrent mutations, mainly in MYD88, CD79B and, less frequently, CARD11, and TNFAIP3. Recurring chromosomal losses affect the 6q, 6p21.32 (HLA locus) and 9p21 (CDKN2A locus) regions Cancer MYD88 (mutation) [HSA:4615] [KO:K04729]
CD79B (mutation) [HSA:974] [KO:K06507]
CARD11 (mutation) [HSA:84433] [KO:K07367]
TNFAIP3 (mutation) [HSA:7128] [KO:K11859]
HLA-DRB5 (deletion) [HSA:3127] [KO:K06752]
CDKN2A (deletion) [HSA:1029] [KO:K06621]
H02434 Diffuse large B-cell lymphoma, not otherwise specified ... PI3K pathway signalling (PTEN), and apoptotic pathway (BCL2). In contrast, ABC subtype is driven by frequent mutations in the B cell receptor and NFKB pathways (CARD11, CD79a/CD79b, TNFAIP3 and MYD88). Cancer EZH2 (mutation) [HSA:2146] [KO:K11430]
CREBBP (mutation/deletion) [HSA:1387] [KO:K04498]
EP300 (mutation/deletion) [HSA:2033] [KO:K04498]
GNA13 (mutation) [HSA:10672] [KO:K04639]
GNAI2 (mutation) [HSA:2768] [KO:K04346]
TNFRSF14 (mutation) [HSA:8764] [KO:K05152]
BCL6 (mutation) [HSA:604] [KO:K15618]
MYC (chromosomal translocation) [HSA:4609] [KO:K04377]
PTEN (deletion) [HSA:5728] [KO:K01110]
BCL2 (chromosomal translocation / mutation) [HSA:596] [KO:K02161]
CARD11 (mutation) [HSA:84433] [KO:K07367]
CD79A (mutation) [HSA:973] [KO:K06506]
CD79B (mutation) [HSA:974] [KO:K06507]
TNFAIP3 (mutation/deletion) [HSA:7128] [KO:K11859]
MYD88 (mutation) [HSA:4615] [KO:K04729]
CDKN2A (deletion) [HSA:1029] [KO:K06621]
CDKN2B (deletion) [HSA:1030] [KO:K04685]
PRDM1 (mutation/deletion) [HSA:639] [KO:K24501]
MLL2 (mutation) [HSA:8085] [KO:K09187]
MLL3 (mutation) [HSA:58508] [KO:K09188]
B2M (mutation/deletion) [HSA:567] [KO:K08055]
CD58 (mutation/deletion) [HSA:965] [KO:K06492]
TP53 (mutation) [HSA:7157] [KO:K04451]
MEF2B (mutation) [HSA:100271849] [KO:K09261]
FOXO1 (mutation) [HSA:2308] [KO:K07201]
H02592 Familial Behcet-like autoinflammatory syndrome Familial Behcet-like autoinflammatory syndrome (AIFBL) is an autosomal dominant monogenic autoinflammatory disease characterized by early-onset systemic inflammation, arthralgia/arthritis, oral/genital ... Immune system disease (AIFBL1) TNFAIP3 [HSA:7128] [KO:K11859]
(AIFBL2) ELF4 [HSA:2000] [KO:K09428]
H02599 Inherited autoinflammatory disease ... defects in the innate immune system. NLRC4 inflammasomopathy [DS:H01748], Aicardi-Goutieres syndrome [DS:H00290], ADA2 deficiency [DS:H01382], and haploinsufficiency A20/TNFAIP3 [DS:H02592] are included. Immune system disease
H02608 Autoinflammatory-pancytopenia syndrome Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by variably demonstrating severe neonatal anemia, membranoproliferative glomerulonephritis, liver fibrosis ... Immune system disease DNASE2 [HSA:1777] [KO:K01158]
H02660 Autoinflammation with pulmonary and cutaneous vasculitis Autoinflammation with pulmonary and cutaneous vasculitis (AIPCV) is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis. It has been reported that AIPCV ... Immune system disease HCK [HSA:3055] [KO:K08893]
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