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Entry Name Description Category Pathway Gene
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]
(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]
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]
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]
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]
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