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Entry | Name | Description | Category | Pathway | Gene |
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H00285 | Blau syndrome | ... triad of juvenile-onset granulomatous arthritis, uveitis, and skin rashes. Inflammation of the eyes, camptodactyly and lymphaedenopathy are additional features of the disease. Missense mutations in the ... | Immune system disease | NOD2 [HSA:64127] [KO:K10165] | |
H00294 | Dilated cardiomyopathy | ... substantial number of patients with "idiopathic" DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart ... | Cardiovascular disease | hsa05414 Dilated cardiomyopathy |
(CMD1A) LMNA [HSA:4000] [KO:K12641] (CMD1C) LDB3 [HSA:11155] [KO:K19867] (CMD1D) TNNT2 [HSA:7139] [KO:K12045] (CMD1E) SCN5A [HSA:6331] [KO:K04838] (CMD1G) TTN [HSA:7273] [KO:K12567] (CMD1I) DES [HSA:1674] [KO:K07610] (CMD1J) EYA4 [HSA:2070] [KO:K17622] (CMD1L) SGCD [HSA:6444] [KO:K12563] (CMD1M) CSRP3 [HSA:8048] [KO:K09377] (CMD1N) TCAP [HSA:8557] [KO:K19879] (CMD1O) ABCC9 [HSA:10060] [KO:K05033] (CMD1P) PLN [HSA:5350] [KO:K05852] (CMD1R) ACTC1 [HSA:70] [KO:K12314] (CMD1S) MYH7 [HSA:4625] [KO:K17751] (CMD1U) PSEN1 [HSA:5663] [KO:K04505] (CMD1V) PSEN2 [HSA:5664] [KO:K04522] (CMD1W) VCL [HSA:7414] [KO:K05700] (CMD1X) FKTN [HSA:2218] [KO:K19872] (CMD1Y) TPM1 [HSA:7168] [KO:K10373] (CMD1Z) TNNC1 [HSA:7134] [KO:K05865] (CMD1AA) ACTN2 [HSA:88] [KO:K21073] (CMD1BB) DSG2 [HSA:1829] [KO:K07597] (CMD1CC) NEXN [HSA:91624] [KO:K23918] (CMD1DD) RBM20 [HSA:282996] [KO:K24052] (CMD1EE) MYH6 [HSA:4624] [KO:K17751] (CMD1FF/CMD2A) TNNI3 [HSA:7137] [KO:K12044] (CMD1GG) SDHA [HSA:6389] [KO:K00234] (CMD1HH) BAG3 [HSA:9531] [KO:K09557] (CMD1II) CRYAB [HSA:1410] [KO:K09542] (CMD1JJ) LAMA4 [HSA:3910] [KO:K06241] (CMD1KK) MYPN [HSA:84665] [KO:K22028] (CMD1LL) PRDM16 [HSA:63976] [KO:K22410] (CMD1MM) MYBPC3 [HSA:4607] [KO:K12568] (CMD1NN) RAF1 [HSA:5894] [KO:K04366] (CMD1OO) VEZF1 [HSA:7716] [KO:K26610] (CMD2B) GATAD1 [HSA:57798] [KO:K23407] (CMD2C) PPCS [HSA:79717] [KO:K01922] (CMD2D) RPL3L [HSA:6123] [KO:K02925] (CMD2E) JPH2 [HSA:57158] [KO:K19530] (CMD2F) BAG5 [HSA:9529] [KO:K09559] (CMD2G) LMOD2 [HSA:442721] [KO:K22030] (CMD2H) GET3 [HSA:439] [KO:K01551] (CMD2I) CAP2 [HSA:10486] [KO:K17261] (CMD2J) FLII [HSA:2314] [KO:K27496] (CMD2K) MYZAP [HSA:100820829] [KO:K22031] (CMD3B) DMD [HSA:1756] [KO:K10366] (BTHS) TAZ [HSA:6901] [KO:K13511] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DPA1 [HSA:3113] [KO:K06752] HLA-DPB1 [HSA:3115] [KO:K06752] HLA-DQA1 [HSA:3117] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] |
H00321 |
Campylobacter infection Campylobacteriosis |
Campylobacter infection is a diarrhoeal disease most commonly caused by Campylobacter jejuni. Campylobacter is a commensal microorganism of the gastrointestinal tract of many wild animals, farm animals ... | Bacterial infectious disease | ||
H00372 |
Smallpox Variola |
... disease caused by the variola virus, one of the Orthopoxviruses that causes skin eruption and marked toxemia. The disease was officially declared eradicated in 1979 following intensive vaccination campaigns. | Viral infectious disease | ||
H00442 | Campomelic dysplasia | Campomelic dysplasia (CD) is a rare congenital skeletal dysplasia characterized by bowing of the long bones (campomelia). It is often associated with male-to-female autosomal sex reversal. Haploinsufficiency ... | Congenital malformation | SOX9 [HSA:6662] [KO:K18435] | |
H00526 |
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Jacobs syndrome |
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive disorder caused by mutations in the Proteoglycan 4 (PRG4), a chondroitin sulfate proteoglycan that acts as ... | Congenital malformation | PRG4 [HSA:10216] [KO:K24286] | |
H00660 |
Congenital contractural arachnodactyly Beals syndrome |
... and arachnodactyly. Most affected individuals have 'crumpled' ears, contractures of major joints, and camptodactyly. Additional features include muscular hypoplasia and scoliosis. In contrast to Marfan syndrome ... | Congenital malformation | FBN2 [HSA:2201] [KO:K23342] | |
H00872 |
Trismus-pseudocamptodactyly syndrome Hecht-Beals syndrome Dutch-Kentucky syndrome |
Trismus-pseudocamptodactyly syndrome is a rare autosomal dominant distal arthrogryposis characterized by the inability to open the mouth (trismus) causing difficulty with mastication, and an unusual camptodactyly ... | Congenital malformation | MYH8 [HSA:4626] [KO:K24220] | |
H00949 |
Focal dermal hypoplasia Goltz-Gorlin syndrome |
... skeletal, ocular and dental abnormalities. Skeletal dysplasia consisting of syndactyly, polydactyly, camptodactyly or ectrodactyly and ocular anomalies such as colobomas, microphthalmia or cataract are ... | Congenital malformation | PORCN [HSA:64840] [KO:K00181] | |
H00997 | CATSHL syndrome | CATSHL syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss. The syndrome is caused by a missense mutation in the FGFR3 gene. FGFR3 is a negative regulator of bone growth ... | Congenital malformation | FGFR3 [HSA:2261] [KO:K05094] | |
H01374 | Helicobacter cinaedi infection | Helicobacter cinaedi (previously called Campylobacter cinaedi) causes cellulitis, bacteremia and diarrhea frequently in immunocompromised patients and occasionally in immunocompetent individuals. In addition ... | Bacterial infectious disease | ||
H01393 |
Van Maldergem syndrome Cerebro-facio-articular syndrome |
... characterized by intellectual disability, hypotonia, distinctive combination of minor facial anomalies, finger camptodactyly, and joint hyperlaxity. Biallelic mutations in genes encoding the receptor-ligand cadherin ... | Congenital malformation |
(VMLDS1) DCHS1 [HSA:8642] [KO:K16507] (VMLDS2) FAT4 [HSA:79633] [KO:K16669] |
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H01431 | Cushing syndrome | ... MEN1 (encoding menin), AIP (encoding aryl-hydrocarbon receptor-interacting protein), PRKAR1A (encoding cAMP-dependent protein kinase type I alpha regulatory subunit) and CDKN1B (encoding cyclin-dependent ... | 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] |
H01436 | Guillain-Barre syndrome | ... forms of GBS are caused by certain autoimmune mechanisms, due to a molecular mimicry between antecedent bacterial infection (particularly Campylobacter jejuni) and human peripheral nerve gangliosides. | Nervous system disease | PMP22 [HSA:5376] [KO:K19289] | |
H01689 |
Fisher syndrome Miller Fisher syndrome |
... anti-ganglioside antibodies, especially IgG anti-GQ1b antibodies, are found in over 80% of the patients. Campylobacter and Haemophilus influenzae have been reported as infectious agents prior to the onset of ... | Immune system disease; Nervous system disease | ||
H01751 | Weaver syndrome | ... between Weaver syndrome and Sotos syndrome, WS patients have additional clinical features including camptodactyly, doughy skin, umbilical hernia, and a low hoarse cry. Recently, mutations in the histone ... | Congenital malformation | EZH2 [HSA:2146] [KO:K11430] | |
H01826 | Mesial temporal lobe epilepsy with hippocampal sclerosis | Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is a group of chronic disorders characterized by prominent neuronal loss and gliosis in the hippocampus and amygdala. MTLE-HS is restricted ... | Nervous system disease | ||
H01886 | Van den Ende-Gupta syndrome | ... blepharophimosis, malar hypoplasia, narrow nasal bridge, convex nasal ridge everted lower lip, arachnodactyly, camptodactyly, slender ribs, underdeveloped glenoid fossa, and mild bowing of long bones, while growth ... | Congenital malformation | SCARF2 [HSA:91179] [KO:K24319] | |
H02049 | Bilateral macronodular adrenal hyperplasia | ... of cortisol excess. BMAH is an adrenal cause of Cushing's syndrome (CS). An increased activity of the cAMP/PKA pathway is found in the various forms of BMAH. Actors of the cAMP/PKA signaling pathway or genes ... | Endocrine and metabolic disease |
ARMC5 [HSA:79798] [KO:K22499] MEN1 [HSA:4221] [KO:K14970] FH [HSA:2271] [KO:K01679] PDE11A [HSA:50940] [KO:K13298] GNAS1 [HSA:2778] [KO:K04632] APC [HSA:324] [KO:K02085] MC2R [HSA:4158] [KO:K04200] PRKACA [HSA:5566] [KO:K04345] |
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H02134 |
Microphthalmia with limb anomalies Anophthalmia-syndactyly syndrome Waardenburg anophthalmia syndrome Ophthalmoacromelic syndrome |
... bilateral microphthalmia, clinical anophthalmia, and limb abnormalities such as syndactyly, brachydactyly, camptodactyly, synostosis, hip dislocation, absence, or hypoplasia of fibula, and bowed tibia. In addition ... | Congenital malformation | SMOC1 [HSA:64093] [KO:K24354] | |
H02211 | Acrodysostosis | ... identified in individuals with acrodysostosis and resistance to multiple hormones. And it has been reported that PDE4D mutations are another cause of acrodysostosis. PDE4D regulates cAMP concentration. | Congenital malformation |
(ACRDYS1) PRKAR1A [HSA:5573] [KO:K04739] (ACRDYS2) PDE4D [HSA:5144] [KO:K13293] |
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H02388 | Infantile-onset limb and orofacial dyskinesia | ... (IOLOD) is a hyperkinetic movement disorder due to homozygous mutations in PDE10A, that encodes a dual cAMP-cGMP phosphodiesterase. PDE10A is enriched in the medium spiny neurons of the corpus striatum. | Nervous system disease | (IOLOD) PDE10A [HSA:10846] [KO:K18438] | |
H02614 | Snijders Blok-Campeau syndrome | Snijders Blok-Campeau syndrome (SNIBCPS) is a neurodevelopmental syndrome characterized by intellectual disability, developmental delays, macrocephaly, impaired speech and language skills, and characteristic ... | Congenital malformation | CHD3 [HSA:1107] [KO:K11642] | |
H02667 | Takenouchi-Kosaki syndrome | ... caused by mutations in CDC42. TKS is characterized by intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural deafness, hypothyroidism, and frequent ... | Congenital malformation | CDC42 [HSA:998] [KO:K04393] | |
H02712 | Li-Campeau syndrome | Li-Campeau syndrome (LICAS) is a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Mutations in UBR7 cause this disease. UBR7 is an E3 ligase protein with recognizable UBR-box and ... | Congenital malformation | UBR7 [HSA:55148] [KO:K11979] | |
H02787 | Mahvash disease | ... the liver and kidney. Upon glucagon binding, it activates the stimulatory G protein (Gs) and increases cAMP level, subsequently transducing glucagon signaling involved in glucose, amino acids and lipid metabolism | Endocrine and metabolic disease | GCGR [HSA:2642] [KO:K04583] |
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