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Entry Name Description Category Pathway Gene
H00089 IFN-gamma/IL-12 axis
Mendelian susceptibility to mycobacterial disease (MSMD) 		The interferon-gamma-interleukin-12 axis is critical for defense against intracellular microbes such as mycobacteria, salmonella, and listeria. Mutations in either chain of the IFN-gammaR lead to severe ... Primary immunodeficiency (IMD27) IFNGR1 [HSA:3459] [KO:K05132]
(IMD28) IFNGR2 [HSA:3460] [KO:K05133]
(IMD29) IL12B [HSA:3593] [KO:K05425]
(IMD30) IL12RB1 [HSA:3594] [KO:K05063]
(IMD31) STAT1 [HSA:6772] [KO:K11220]
(IMD32) IRF8 [HSA:3394] [KO:K10155]
(IMD33) IKBKG [HSA:8517] [KO:K07210]
(IMD34) CYBB [HSA:1536] [KO:K21421]
(IMD38) ISG15 [HSA:9636] [KO:K12159]
(IMD42) RORC [HSA:6097] [KO:K08534]
H00096 Defects of toll-like receptor signaling ... immunodeficiency that impairs Toll/IL-1R immunity, except for the Toll-like receptor (TLR) 3- and TLR4-interferon (IFN)-a/b pathways. IRAK-4 is a kinase that plays a crucial role downstream of individual TLR ... Primary immunodeficiency (IMD67) IRAK4 [HSA:51135] [KO:K04733]
(IMD39) IRF7 [HSA:3665] [KO:K09447]
(IMD74) TLR7 [HSA:51284] [KO:K05404]
(IMD98) TLR8 [HSA:51311] [KO:K10170]
H00204 Heimler syndrome ... syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It has been reported ... Inherited metabolic disorder, Peroxisomal disease (HMLR1) PEX1 [HSA:5189] [KO:K13338]
(HMLR2) PEX6 [HSA:5190] [KO:K13339]
H00432 Hereditary dentine disorders Hereditary dentine disorders are divided into 5 types: 3 types of dentinogenesis imperfecta (DGI), and 2 types of dentin dysplasia (DD). DGI type I is inherited with osteogenesis imperfecta [DS:H00506] ... Congenital malformation DSPP [HSA:1834] [KO:K23573]
H00506 Osteogenesis imperfecta Osteogenesis imperfecta (OI) is characterized by an inherited bone fragility mainly caused by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in ... Congenital malformation (OI1/2/3/4) COL1A1 [HSA:1277] [KO:K06236]
(OI2/3/4) COL1A2 [HSA:1278] [KO:K06236]
(OI5) IFITM5 [HSA:387733] [KO:K06566]
(OI6) SERPINF1 [HSA:5176] [KO:K19614]
(OI7) CRTAP [HSA:10491] [KO:K19606]
(OI8) P3H1 [HSA:64175] [KO:K08134]
(OI9) PPIB [HSA:5479] [KO:K03768]
(OI10) SERPINH1 [HSA:871] [KO:K09501]
(OI11) FKBP10 [HSA:60681] [KO:K09575]
(OI12) SP7 [HSA:121340] [KO:K09197]
(OI13) BMP1 [HSA:649] [KO:K05502]
(OI14) TMEM38B [HSA:55151] [KO:K24013]
(OI15) WNT1 [HSA:7471] [KO:K03209]
(OI16) CREB3L1 [HSA:90993] [KO:K09048]
(OI17) SPARC [HSA:6678] [KO:K24262]
(OI18) TENT5A [HSA:55603] [KO:K23033]
(OI19) MBTPS2 [HSA:51360] [KO:K07765]
(OI20) MESD [HSA:23184] [KO:K25366]
(OI21) KDELR2 [HSA:11014] [KO:K10949]
(OI22) CCDC134 [HSA:79879] [KO:K25417]
(OI23) PHLDB1 [HSA:23187] [KO:K23794]
H00514 Bruck syndrome Bruck syndrome is a recessively-inherited form of osteogenesis imperfecta in combination with pterygium formation across large joints. In Bruck syndrome, joint mobility is significantly reduced, showing ... Congenital malformation PLOD2 [HSA:5352] [KO:K13645]
FKBP10 [HSA:60681] [KO:K09575]
H00615 Amelogenesis imperfecta Amelogenesis imperfecta (AI) represents a heterogeneous group of inherited disorders characterized by very thin dental enamel. Defects in mineralization or matrix formation during tooth development lead ... Congenital malformation (AI1A) LAMB3 [HSA:3914] [KO:K06244]
(AI1B/C) ENAM [HSA:10117] [KO:K23444]
(AI1E) AMELX [HSA:265] [KO:K23443]
(AI1F) AMBN [HSA:258] [KO:K23442]
(AI1G) FAM20A [HSA:54757] [KO:K21957]
(AI1H) ITGB6 [HSA:3694] [KO:K06589]
(AI1J) ACP4 [HSA:93650] [KO:K19284]
(AI1K) SP6 [HSA:80320] [KO:K09196]
(AI2A1) KLK4 [HSA:9622] [KO:K08666]
(AI2A2) MMP20 [HSA:9313] [KO:K07999]
(AI2A3) WDR72 [HSA:256764] [KO:K24753]
(AI2A4) ODAPH [HSA:152816] [KO:K24398]
(AI2A5) SLC24A4 [HSA:123041] [KO:K13752]
(AI2A6) GPR68 [HSA:8111] [KO:K08408]
(AI3A) FAM83H [HSA:286077] [KO:K23931]
(AI3B) AMTN [HSA:401138] [KO:K25225]
(AI3C) RELT [HSA:84957] [KO:K05156]
H00618 Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) is a condition characterized by enamel defects and enlarged pulp chambers. Unlike its allelic disorder trichodentoosseous dysplasia ... Congenital malformation DLX3 [HSA:1747] [KO:K09315]
H00680 Primary failure of tooth eruption Primary failure of tooth eruption (PFE) is a condition in which tooth retention occurs without mechanical interference. Defects in PTHR1 are the cause of PFE. Digestive system disease PTHR1 [HSA:5745] [KO:K04585]
H01015 Jalili syndrome Jalili syndrome is a combination of recessively inherited cone-rod dystrophy and amelogenesis imperfecta. It is caused by mutations in the CNNM4 gene, encoding a putative metal transporter, that is expressed ... Congenital malformation CNNM4 [HSA:26504] [KO:K16302]
H01038 Cerebellar ataxia cayman type
Cayman ataxia 		... mental retardation, and cerebellar dysfunction with marked cerebellar hypoplasia. It has been reported that mutation of the ATCAY gene encoding Caytaxin causes ATCAY by interfering with normal splicing. Nervous system disease ATCAY [HSA:85300] [KO:K18450]
H01132 Aplastic anemia ... cytotoxic T cells play a key role in the pathogenesis of AA by myelosuppressive cytokines including interferon-gamma. It has been reported that polymorphisms in IFNG are related to AA. A minority of patients ... Hematologic disease TERC [HSA:7012] [KO:K22183]
TERT [HSA:7015] [KO:K11126]
IFNG [HSA:3458] [KO:K04687]
PRF1 [HSA:5551] [KO:K07818]
SBDS [HSA:51119] [KO:K14574]
NBN [HSA:4683] [KO:K10867]
H01205 Coumarin resistance
Warfarin resistance 		... factors such as intake of vitamin K, ethnicity, age, gender, and genetic factors. Warfarin acts through interference with the recycling of vitamin K in the liver. It has been reported that mutations in VKORC1 ... Inherited metabolic disorder VKORC1 [HSA:79001] [KO:K05357]
CYP2A6 [HSA:1548] [KO:K17683]
CYP2C9 [HSA:1559] [KO:K17719]
GGCX [HSA:2677] [KO:K10106]
H01490 Multiple sclerosis ... levels is involved. Authorized first-line treatments are considered equally effective, and include interferon beta and glatiramer acetate. They are primarily directed against inflammation, and might fail ... Immune system disease (MS) PDCD1 [HSA:5133] [KO:K06744]
(MS) HLA-DRB1 [HSA:3123] [KO:K06752]
(MS) HLA-DQB1 [HSA:3119] [KO:K06752]
(MS5) TNFRSF1A [HSA:7132] [KO:K03158]
H01491 Neuromyelitis optica
Devic disease 		... PLEX removes antibodies, complement, and cytokines from the blood. Besides, immunosuppressant agents interfering with the function of T and B cells have been shown to prevent disease relapses and reduce neurological ... Immune system disease
H01571 Singleton-Merten syndrome ... periodontitis and root resorption), osteopenia, and acro-osteolysis. A gain-of-function mutation in interferon induced with helicase C domain 1 (IFIH1), encoding melanoma differentiation-associated protein ... Congenital malformation (SGMRT1) IFIH1 [HSA:64135] [KO:K12647]
(SGMRT2) RIGI [HSA:23586] [KO:K12646]
H01572 Cole-Carpenter syndrome ... distinctive facial features. CCS was first described in 1987 as a newly recognized type of osteogenesis imperfecta (OI). Despite its apparent extreme rarity, CCS is commonly classified as a separate OI-like disorder ... Congenital malformation P4HB [HSA:5034] [KO:K09580]
SEC24D [HSA:9871] [KO:K14007]
H01576 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Spondyloenchondrodysplasia (SPENCD) 		... displayed an absence of TRAP serum expression and, in keeping with autoimmune manifestations, increased levels of serum interferon-alpha (IFNalpha) and an upregulation of interferon-stimulated genes (ISGs). Congenital malformation ACP5 [HSA:54] [KO:K14379]
H01595 Cutaneous lupus erythematosus ... in the immune response. It has been reported that many genetic risk factors for CLE involve HLA or interferon-related pathways. Corticosteroids and antimalarials were considered as the most suitable and ... Immune system disease; Skin disease
H01613 Follicular lymphoma ... normal germinal centre apoptotic programme. Inactivating mutations of MLL2 are found in >80% of FL and interfere with the ability of MLL2 to activate gene transcription through H3K4 methylation. Mutations of ... Cancer IgH-BCL2 (translocation) [HSA:596] [KO:K02161]
EZH2 (mutation) [HSA:2146] [KO:K11430]
MLL2 (mutation) [HSA:9757 8085] [KO:K14959 K09187]
CREBBP (mutation) [HSA:1387] [KO:K04498]
MEF2B (mutation) [HSA:4207] [KO:K09261]
EP300 (mutation) [HSA:2033] [KO:K04498]
H01696 Subacute sclerosing panencephalitis ... and avoidance of secondary complications associated with the progressive disability. Treatment with interferon, ribavirin, and isoprinosine have reported beneficial results. However, there is no definitively ... Neurodegenerative disease; Viral infectious disease
H01717 Optic neuritis ... speeds recovery but does not improve the final outcome. For patients judged to be at high risk of developing multiple sclerosis, immune prophylaxis with beta-interferon or glatiramer acetate is recommended. Nervous system disease
H01729 Premature ventricular complexes
Premature ventricular contractions 		... concomitant cardiac disease. The decision to suppress PVCs is largely based on the presence of symptoms, interference with other therapy (e.g., cardiac resynchronization therapy), or suspicion of PVC-mediated ... Cardiovascular disease
H01746 STING-associated vasculopathy with onset in infancy STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy (SAVI) is a rare hereditary autoinflammatory disorder caused by gain-of-function mutations in TMEM173, the gene encoding ... Immune system disease STING1 [HSA:340061] [KO:K12654]
H01806 Tenorio syndrome ... ligase, have been found from patients. It have been demonstrated that mutations in RNF125 result in a loss of function of RNF125 and dysregulation of the RIG-I-IPS1, PI3K-AKT, and interferon pathways. Congenital malformation RNF125 [HSA:54941] [KO:K12170]
H01868 Mitral valve prolapse ... [DS:H00653], Loeys-Dietz syndrome [DS:H00800], Ehlers-Danlos syndrome [DS:H00802], and osteogenesis imperfecta [DS:H00506]. Nonsyndromic MVP can be sporadic or familial, demonstrating autosomal dominant and ... Cardiovascular disease (MVP2) DCHS1 [HSA:8642] [KO:K16507]
(MVP3) DZIP1 [HSA:22873] [KO:K16470]
H02058 Kohlschutter-Tonz syndrome ... recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. It has been reported that KTS is caused by mutations in ROGDI, that plays an important role ... Nervous system disease ROGDI [HSA:79641] [KO:K24628]
H02204 Hereditary hyperferritinaemia-cataract syndrome
Bonneau-Beaumont syndrome 		Hereditary hyperferritinaemia-cataract syndrome (HHCS) is an autosomal dominant disease characterized by hyperferritinemia without iron overload and early-onset bilateral cataract induced by L-ferritin ... Nervous system disease FTL [HSA:2512] [KO:K13625]
H02532 Proteasome-associated autoinflammatory syndrome ... dermatosis with lipodystrophy and elevated temperature (CANDLE). PRAAS is a rare autoinflammatory interferonopathy caused by loss-of-function mutations in proteasome genes. In contrast to what occurs in ... Immune system disease (PRAAS1) PSMB8 [HSA:5696] [KO:K02740]
(PRAAS2) POMP [HSA:51371] [KO:K11599]
(PRAAS3) PSMB4 [HSA:5692] [KO:K02736]
(PRAAS3/PRAAS6) PSMB9 [HSA:5698] [KO:K02741]
(PRAAS4) PSMG2 [HSA:56984] [KO:K11876]
(PRAAS5) PSMB10 [HSA:5699] [KO:K02733]
H02536 Infection-induced acute encephalopathy ... factors play an important role in the aetiology of IIAE. For example, herpes simplex encephalitis (HSE) has been linked to defects in type I interferon production downstream of Toll-like receptor (TLR)3. Nervous system disease; Infectious disease (IIAE1) UNC93B1 [HSA:81622] [KO:K26150]
(IIAE2) TLR3 [HSA:7098] [KO:K05401]
(IIAE3) RANBP2 [HSA:5903] [KO:K12172]
(IIAE4) CPT2 [HSA:1376] [KO:K08766]
(IIAE5) TRAF3 [HSA:7187] [KO:K03174]
(IIAE6) TICAM1 [HSA:148022] [KO:K05842]
(IIAE7) IRF3 [HSA:3661] [KO:K05411]
(IIAE8) TBK1 [HSA:29110] [KO:K05410]
(IIAE9) NUP214 [HSA:8021] [KO:K14317]
(IIAE10) SNORA31 [HSA:677814] [KO:K26336]
(IIAE11) DBR1 [HSA:51163] [KO:K18328]
(IIAE12) RNH1 [HSA:6050] [KO:K16634]
H02608 Autoinflammatory-pancytopenia syndrome ... fibrosis, deforming arthropathy, and increased anti-DNA antibodies. Studies have identified mutations in DNASE2, associated with a loss of DNase II endonuclease activity causing type I interferonopathy. Immune system disease DNASE2 [HSA:1777] [KO:K01158]
H02651 Lessel-Kreienkamp syndrome ... Argonaute family of proteins. AGO2 and associated miRNAs form the RNA-induced silencing complex (RISC), which targets mRNAs for translational silencing and degradation as part of the RNA interference pathway. Congenital malformation AGO2 [HSA:27161] [KO:K11593]
H02724 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome Combined osteogenesis imperfecta and Ehlers-Danlos syndrome (OIEDS) is a generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures ... Congenital malformation (OIEDS1) COL1A1 [HSA:1277] [KO:K06236]
(OIEDS2) COL1A2 [HSA:1278] [KO:K06236]
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