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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01044 |
Dracunculiasis Guinea worm disease |
... that do not have access to safe drinking water. It is transmitted by contaminated drinking water containing water fleas that are infected with D. medinensis larvae. In infected individuals, the worm emerges ... | Parasitic infectious disease | ||
| H01045 | Schistosomiasis | ... acute schistosomiasis that is characterized by cercarial dermatitis and Katayama fever. Life-threatening cardiac and neurological complications may occur. Schistosome eggs can also lead to chronic fibrotic ... | Parasitic infectious disease | ||
| H01050 | Tsukamurella infection | ... uncommonly reported as a cause of different human infections, including peritonitis, conjunctivitis, meningitis, tenosynovitis, prosthetic joint infections, cutaneous infections, tuberculosis-like respiratory ... | Bacterial infectious disease | ||
| H01092 | Hookworm disease | ... clinical features are anemia and malnutrition. Humans may also be incidentally infected by the zoonotic hookworms, the most common being A. braziliense and A. caninum, which can cause cutaneous larva migrans. | Parasitic infectious disease | ||
| H01095 | Syndactyly | ... the common hereditary limb malformations depicting the fusion of certain fingers and/or toes. At least nine non-syndromic syndactylies with additional sub-types have been characterized. Most of the syndactyly ... | Congenital malformation |
(SDTY2/5) HOXD13 [HSA:3239] [KO:K09298] (SDTY3) GJA1 [HSA:2697] [KO:K07372] (SDTY4) ZRS/LMBR1 [HSA:64327] [KO:K25217] (SDTY9) BHLHA9 [HSA:727857] [KO:K24145] |
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| H01102 | Pituitary adenomas | ... excess, or to visual/cranial disturbances due to mass effect. The tumor can be clinically nonfunctioning or hormone secreting. Among the latter, prolactin (PRL) and growth hormone (GH)-secreting adenomas ... | 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] |
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| H01130 | Late-onset retinal degeneration | ... CTRP5 (C1QTNF5) gene, which encodes a short-chain collagen, changing a highly conserved serine to arginine (Ser163Arg). The mutation results in abnormal high molecular weight aggregate formation which may ... | Nervous system disease | C1QTNF5 [HSA:114902] [KO:K24212] | |
| H01136 | Carboxypeptidase N deficiency | Carboxypeptidase N (CPN) is a plasma zinc metalloprotease that inactivates C3a, C4a, C5a, bradykinin, kalladin, and fibrinopeptides. CPN has been implicated as a major regulator of inflammation. Although ... | Immune system disease | CPN1 [HSA:1369] [KO:K01292] | |
| H01137 | Baylisascariasis | ... baylisascariasis includes visceral larva migrans, neural larva migrans, and ocular larva migrans. Neural larva migrans can lead to severe neurologic disease such as eosinophilic meningoencephalitis in humans. | Parasitic infectious disease | ||
| H01161 | Aromatic L-amino acid decarboxylase deficiency | ... severe neurologic dysfunction in infancy. Mutations in the gene encoding for the enzyme AADC (DDC) lead to a severe combined deficiency of serotonin and the two catecholamines, dopamine and norepinephrine. | Nervous system disease | DDC [HSA:1644] [KO:K01593] | |
| H01174 | Congenital diarrhea | ... etiology. In the first weeks of life, patients usually present with severe diarrhea that within a few hours leads to a life-threatening condition secondary to massive dehydration and metabolic acidosis. | Digestive system disease |
(DIAR1) SLC26A3 [HSA:1811] [KO:K14078] (DIAR2/MVID1) MYO5B [HSA:4645] [KO:K10357] (DIAR3) SPINT2 [HSA:10653] [KO:K23421] (DIAR4) NEUROG3 [HSA:50674] [KO:K08028] (DIAR5) EPCAM [HSA:4072] [KO:K06737] (DIAR6) GUCY2C [HSA:2984] [KO:K12320] (DIAR7) DGAT1 [HSA:8694] [KO:K11155] (DIAR8) SLC9A3 [HSA:6550] [KO:K12040] (DIAR9) WNT2B [HSA:7482] [KO:K00182] (DIAR10) PLVAP [HSA:83483] [KO:K17309] (DIAR11) PERCC1 [HSA:105371045] (DIAR12/MVID2) STX3 [HSA:6809] [KO:K08486] (DIAR13) ACSL5 [HSA:51703] [KO:K01897] |
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| H01185 |
Cerebral amyloid angiopathy Hereditary cerebral hemorrhage with amyloidosis |
... (CAA) is characterized by the deposition of congophilic material in the vessels of the cortex and leptomeninges. Although CAA most commonly appears in a sporadic form associated with aging, several familial ... | Neurodegenerative disease |
CST3 [HSA:1471] [KO:K13899] APP [HSA:351] [KO:K04520] |
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| H01188 | Tn syndrome | ... epitope of the Tn antigen is terminal alpha-N-acetylgalactosamine alpha-linked to either a serine or threonine amino-acid residue. The defect may be due to a malfunction of the glycosylating enzyme T-synthase ... | Hematologic disease | COSMC [HSA:29071] [KO:K09653] | |
| H01190 | Transcobalamin II deficiency | ... (cobalamin, Cbl) transport that leads to intracellular Cbl depletion with secondary impairment of methionine synthetase and methyl-malonyl CoA mutase activities. This disorder presents with failure to thrive ... | Inherited metabolic disorder | TCN2 [HSA:6948] [KO:K14619] | |
| H01216 | Left ventricular noncompaction | ... including LIM domain binding protein 3 (ZASP), alpha-dystrobrevin (DTNA), and genes encoding the sarcomeric proteins, beta-myosin heavy chain (MYH7), alpha-cardiac actin (ACTC), and cardiac troponin T (TNNT2). | Cardiovascular disease |
(LVNC1) DTNA [HSA:1837] [KO:K26998] (LVNC3) LDB3 [HSA:11155] [KO:K19867] (LVNC4) ACTC1 [HSA:70] [KO:K12314] (LVNC5) MYH7 [HSA:4625] [KO:K17751] (LVNC6) TNNT2 [HSA:7139] [KO:K12045] (LVNC7) MIB1 [HSA:57534] [KO:K10645] (LVNC8) PRDM16 [HSA:63976] [KO:K22410] (LVNC9) TPM1 [HSA:7168] [KO:K10373] (LVNC10) MYBPC3 [HSA:4607] [KO:K12568] |
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| H01229 | Inclusion body myopathy 3 | ... at position 706 to the positively charged lysine (E706K). This region is important for myosin functioning during muscle contraction, because it undergoes conformational changes during adenosine triphosphate ... | Nervous system disease; Musculoskeletal disease | MYH2 [HSA:4620] [KO:K24220] | |
| H01241 | Congenital diaphragmatic hernia | ... hernia (CDH) is defined as a protrusion of abdominal viscera into the thorax through an abnormal opening or defect that is present at birth. CDH is often associated with potentially lethal lung hypoplasia ... | Congenital malformation |
(DIH3) ZFPM2 [HSA:23414] [KO:K17442] (DIH4) ALDH1A2 [HSA:8854] [KO:K07249] |
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| H01256 | Foveal hypoplasia | ... abnormal foveomacular reflex, unclear definition of the foveomacular area, and presence of capillaries running abnormally close to the macula. It can be isolated or associated with presenile cataract. The mutations ... | Nervous system disease |
(FVH1) PAX6 [HSA:5080] [KO:K08031] (FVH2) SLC38A8 [HSA:146167] [KO:K14994] |
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| H01259 | Giant axonal neuropathy | ... axonal neuropathy 1 (GAN1) is autosomal recessively inherited and caused by mutations in GAN (gigaxonin). GAN1 is characterized by an early onset severe peripheral neuropathy, varying central nervous system ... | Neurodegenerative disease |
(GAN1) GAN [HSA:8139] [KO:K10453] (GAN2) DCAF8 [HSA:50717] [KO:K11804] |
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| H01261 | Congenital glucose-galactose malabsorption | ... (SGLT1/SLC5A1). GGM is characterized by neonatal onset of watery and acidic diarrhea, which becomes fatal within a few weeks unless glucose and galactose containing nutrients are removed from the diet. | Inherited metabolic disorder | SLC5A1 [HSA:6523] [KO:K14158] | |
| H01269 | Congenital hyperthyroidism | ... maternal thyroid-stimulating antibodies. Germline mutations of thyrotropin receptor (TSHR) gene determining a constitutive activation of the receptor were identified as a molecular cause of congenital nonautoimmune ... | Endocrine and metabolic disease | TSHR [HSA:7253] [KO:K04249] | |
| H01275 |
Interleukin 1 receptor antagonist deficiency Multifocal osteomyelitis with periostitis and pustulosis |
... caused by mutations in IL1RN. The absence of interleukin 1 receptor (IL-1R) antagonist allows unopposed action of IL-1, resulting in life threatening systemic inflammation with skin and bone involvement. | Immune system disease | IL1RN [HSA:3557] [KO:K05481] | |
| H01285 | Methylcobalamin deficiency type G | ... (cblG) is an autosomal recessive disease characterized by homocystinuria, hyperhomocysteinemia, and hypomethioninemia. Mutations in the MTR gene, which encodes methionine synthase result in this disease. | Inherited metabolic disorder | MTR [HSA:4548] [KO:K00548] | |
| H01294 | Nephrogenic syndrome of inappropriate antidiuresis | ... inappropriate antidiuresis (NSIAD) is a disorder of water balance caused by gain of function mutation of arginine vasopressin receptor type 2 (AVPR2) resulting in free water reabsorption and episodes of hyponatremia | Endocrine and metabolic disease | AVPR2 [HSA:554] [KO:K04228] | |
| H01308 | Macrocephaly macrosomia facial dysmorphism syndrome | Macrocephaly macrosomia facial dysmorphism syndrome is characterized by overgrowth, learning disability, and dysmorphic features. Mutations in RNF135 cause this syndrome. | Congenital malformation | RNF135 [HSA:84282] [KO:K16272] | |
| H01310 |
Multi-minicore disease Multicore myopathy with external ophthalmoplegia Rigid spine syndrome (RSS) |
... morphologically defined by localized multiple areas of mitochondrial depletion and sarcomere disorganization, running to a limited extent along the longitudinal axis of muscle fiber ("minicores"). Marked clinical variability ... | Nervous system disease; Musculoskeletal disease |
SEPN1 [HSA:57190] [KO:K19874] RYR1 [HSA:6261] [KO:K04961] |
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| H01312 | Enteroaggregative Escherichia coli (EAEC) infection | ... small intestine via aggregative adherence fimbriae. The adherent rods resemble stacked bricks and result in shortening of microvilli. Approximately 40% of EAEC strains produce a heat-stable toxin, EAST1. | Bacterial infectious disease | ||
| H01313 |
Escherichia coli meningitis Neonatal meningitis-associated Escherichia coli (NMEC) infection |
Escherichia coli meningitis is a bacterial meningitis caused by Escherichia coli, and is common in the newborn within the first month of life (neonatal meningitis). Neonatal meningitis-associated Escherichia ... | Bacterial infectious disease | ||
| H01321 | Pneumococcal disease | ... cause of community-acquired pneumonia. The invasive PD burden is mainly determined by pneumococcal meningitis, bacteremic pneumococcal pneumonia, and pneumococcal bacteremia without a primary focus. Incidence ... | Bacterial infectious disease | ||
| H01324 | Lymphocytic choriomeningitis | Lymphocytic choriomeningitis (LCM) is an infectious disease caused by Lymphocytic choriomeningitis virus (LCMV), an arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. ... | Viral infectious disease | ||
| H01326 | Hand, foot and mouth disease | ... Picornaviridae family of +ssRNA viruses, such as Coxsackievirus A16 and Enterovirus A71. HFMD is generally a benign febrile exanthematous disease, but complications can occur causing meningitis and encephalitis. | Viral infectious disease | ||
| H01336 | Encephalitozoon infection | ... opportunistic pathogen associated with immunocompromised individuals. Major symptoms include a life-threatening chronic diarrhea and systemic disease. The transmission routes may involve person-to-person as well ... | Fungal infectious disease | ||
| H01359 | Anaphylaxis | Anaphylaxis is a severe, life-threatening, systemic allergic reaction that is almost always unanticipated and may lead to death by airway obstruction or vascular collapse. Anaphylaxis can be triggered ... | Immune system disease | ||
| H01367 | Infantile liver failure | Infantile liver failure is a life-threatening condition characterized by poor feeding, vomiting, jaundice, distended abdomen, hemorrhagic diathesis, and hypoactivity. Clinically, patients manifest with ... | Inherited metabolic disorder, Mitochondrial disease |
(ILFS1) LARS [HSA:51520] [KO:K01869] (ILFS2) NBAS [HSA:51594] [KO:K20473] (ILFS3) RINT1 [HSA:60561] [KO:K20474] (LFIT) TRMU [HSA:55687] [KO:K21027] |
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| H01376 | Acrofacial dysostosis | Acrofacial dysostosis (AFD) is a heterogeneous group of disorders combining mandibulofacial dysostosis (micrognathia and ear anomalies) with limb defects. The predominantly preaxial form is called Nager ... | Congenital malformation |
(POADS) DHODH [HSA:1723] [KO:K00254] (AFD1) SF3B4 [HSA:10262] [KO:K12831] (WAD) EVC2 [HSA:132884] [KO:K19608] (WAD) EVC [HSA:2121] [KO:K19605] (AFDCIN) POLR1A [HSA:25885] [KO:K02999] |
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| H01401 | Methicillin-resistant Staphylococcus epidermidis (MRSE) infection | ... of human and other mammals causes various diseases ranging from minor skin infections to life-threatening bacteremia. The two major opportunistic pathogens in the Staphylococcus genus, Staphylococcus aureus ... | Bacterial infectious disease | ||
| H01406 | Streptococcus suis infection | ... pigs or pork products. Incidences of human infection with S. suis are greater in S.E. Asia and China. Meningitis is the most common presentation in humans, but septicaemia and endocarditis are also seen. | Bacterial infectious disease | ||
| H01416 | Severe fever with thrombocytopenia syndrome | Severe fever with thrombocytopenia syndrome (SFTS) is a life-threatening infectious disease caused by SFTS virus (SFTSV), a phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Ixodoidea ... | Viral infectious disease | ||
| H01419 | Middle East respiratory syndrome | ... emerged in the Middle East in 2012. Since then, MERS-CoV has caused an ongoing epidemic in the Arabian Peninsula with sporadic cases imported in Europe, North Africa, Southeast Asia, and the United States of ... | Viral infectious disease | ||
| H01429 | Aseptic meningitis | Aseptic meningitis is one of the most common inflammatory disorders of the meninges and includes all types of meningitis not due to pyogenic bacteria. It has a very broad etiology, including both viral ... | Viral infectious disease; Nervous system disease |
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