Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00147 | Sialuria | ... is generally fatal in early childhood. The differential diagnosis of free sialic acid storage also includes French type sialuria, a disorder due to mutations in the UDP-GlcNAc 2-epimerase (GNE), the key ... | Inherited metabolic disorder, Lysosomal disease |
(SD, ISSD) SLC17A5 [HSA:26503] [KO:K12301] (French type) GNE [HSA:10020] [KO:K12409] |
|
| H00148 | Lysosomal acid lipase deficiency | Lysosomal acid lipase (LAL) deficiency causes autosomal recessive lysosomal storage disorders including Wolman disease and Cholesteryl ester storage disease (CESD). This disease is characterized by massive ... | Inherited metabolic disorder, Lysosomal disease | LIPA [HSA:3988] [KO:K01052] | |
| H00155 |
Familial hypercholesterolemia Autosomal dominant hypercholesterolaemia |
... dominant disorder caused by deficiency of low density lipoprotein receptor. Other forms of this disorder include hypercholesterolemia caused by mutation of APOB or PCSK9 gene. This disorder is characterized by ... | Inherited metabolic disorder |
(FHCL1) LDLR [HSA:3949] [KO:K12473] (FHCL1) EPHX2 [HSA:2053] [KO:K08726] (FHCL1) GHR [HSA:2690] [KO:K05080] (FHCL1) PPP1R17 [HSA:10842] [KO:K08067] (FHCL1) APOA2 [HSA:336] [KO:K08758] (FHCL2) APOB [HSA:338] [KO:K14462] (FHCL3) PCSK9 [HSA:255738] [KO:K13050] (FHCL4) LDLRAP1 [HSA:26119] [KO:K12474] |
|
| H00177 | Neonatal adrenoleukodystrophy | ... proliferation. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy ... | Inherited metabolic disorder, Peroxisomal disease |
(PBD1B) PEX1 [HSA:5189] [KO:K13338] (PBD2B) PEX5 [HSA:5830] [KO:K13342] (PBD3B) PEX12 [HSA:5193] [KO:K13345] (PBD4B) PEX6 [HSA:5190] [KO:K13339] (PBD5B) PEX2 [HSA:5828] [KO:K06664] (PBD6B) PEX10 [HSA:5192] [KO:K13346] (PBD7B) PEX26 [HSA:55670] [KO:K13340] (PBD8B) PEX16 [HSA:9409] [KO:K13335] (PBD9B) PEX7 [HSA:5191] [KO:K13341] (PBD10B) PEX3 [HSA:8504] [KO:K13336] (PBD14B) PEX11B [HSA:8799] [KO:K13352] |
|
| H00180 |
Holocarboxylase synthetase deficiency Multiple carboxylase deficiency |
... carboxylase, methylcrotonyl-CoA carboxylase, and acetyl-CoA carboxylase. Symptoms of HLCS deficiency include metabolic acidosis, a characteristic organic aciduria, lethargy, hypotonia, convulsions, and dermatitis | Inherited metabolic disorder | HLCS [HSA:3141] [KO:K01942] | |
| H00201 | Erythropoietic porphyria | ... porphyria (CEP) /Gunther Disease, and the very rare hepatoerythropoietic porphyria (HEP). The symptoms include photosensitivity and hemolytic anemia. ALAS deficiency is responsible for X-linked sideroblastic ... | Inherited metabolic disorder |
(EPP1) FECH [HSA:2235] [KO:K01772] (EPP2) CLPX [HSA:10845] [KO:K03544] (CEP) UROS [HSA:7390] [KO:K01719] (HEP) UROD [HSA:7389] [KO:K01599] (XLDPP) ALAS2 [HSA:212] [KO:K00643] |
|
| H00206 | Mevalonate kinase deficiency | ... biosynthesis of nonsterol isoprenes in addition to cholesterol. Patients of MVA show the symptoms, including dysmorphic features, cataracts, and neurologic symptoms. The majority of patients with HIDS experience ... | Inherited metabolic disorder | MVK [HSA:4598] [KO:K00869] | |
| H00215 | Periodic paralysis | ... periodic paralyses are characterized by episodic muscle weakness often related to potassium levels. They include hyperkalaemic periodic paralysis (HyperPP), hypokalaemic periodic paralysis (HypoPP), and Andersen-Tawil ... | Nervous system disease; Musculoskeletal disease |
(HYPP HOKPP2) SCN4A [HSA:6329] [KO:K04837] (HOKPP1) CACNA1S [HSA:779] [KO:K04857] (ATS) KCNJ2 [HSA:3759] [KO:K04996] |
|
| H00222 |
Afibrinogenemia Dysfibrinogenemia |
Congenital fibrinogen defects caused by mutation of any of fibrinogen genes (FGA, FGB, and FGG) include both quantitative defects (type I deficiencies or afibrinogenemia) and qualitative defects (type ... | Hematologic disease |
FGA [HSA:2243] [KO:K03903] FGB [HSA:2244] [KO:K03904] FGG [HSA:2266] [KO:K03905] |
|
| H00233 |
MYH9-related disease Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) |
... Sebastian syndrome , share the triad of thrombocytopenia, large platelets and characteristic leukocyte inclusions (Dohle-like bodies). Epstein syndrome is clinically identical to FTNS, except Dohle-like bodies ... | Cardiovascular disease | MYH9 [HSA:4627] [KO:K10352] | |
| H00236 |
Congenital polycythemia Familial erythrocytosis (ECYT) |
Congenital polycythemia or familial erythrocytosis includes a heterogeneous group of disorders with the common characteristic of an absolute increased red cell mass caused by inherited defects in hypoxia ... | Hematologic disease |
(ECYT1) EPOR [HSA:2057] [KO:K05079] (ECYT1) JAK2 [HSA:3717] [KO:K04447] (ECYT1) SH2B3 [HSA:10019] [KO:K12459] (ECYT2) VHL [HSA:7428] [KO:K03871] (ECYT3) EGLN1 [HSA:54583] [KO:K09592] (ECYT4) EPAS1 [HSA:2034] [KO:K09095] (ECYT5) EPO [HSA:2056] [KO:K05437] (ECYT6) HBB [HSA:3043] [KO:K13823] (ECYT7) HBA1/2 [HSA:3039 3040] [KO:K13822] (ECYT8) BPGM [HSA:669] [KO:K01837] |
|
| H00243 | Hyperkalemic distal renal tubular acidosis (RTA type 4) | ... gamma) of the epithelial Na+ channel (SCNN1A, SCNN1B, and SCNN1G). Other inherited cause of type 4 RTA includes hyperkalaemia associated with hypertension and low or normal levels of plasma aldosterone. This ... | Urinary system disease |
(PHA1A) NR3C2 [HSA:4306] [KO:K08555] (PHA1B1) SCNN1A [HSA:6337] [KO:K04824] (PHA1B2) SCNN1B [HSA:6338] [KO:K04825] (PHA1B3) SCNN1G [HSA:6340] [KO:K04827] (PHA2B) WNK4 [HSA:65266] [KO:K08867] (PHA2C) WNK1 [HSA:65125] [KO:K08867] (PHA2D) KLHL3 [HSA:26249] [KO:K10443] (PHA2E) CUL3 [HSA:8452] [KO:K03869] |
|
| H00247 |
Multiple endocrine neoplasia syndrome Wermer syndrome Sipple syndrome |
... Zollinger-Ellison Syndrome (see H01522). MEN2 is characterized by medullary thyroid cancer (MTC) and includes three subtypes: MEN2A (Sipple's syndrome), MEN2B (MEN3) and familial MTC. Patients with MEN2A ... | Cancer |
(MEN1) MEN1 [HSA:4221] [KO:K14970] (MEN2A MEN2B) RET [HSA:5979] [KO:K05126] (MEN4) CDKN1B [HSA:1027] [KO:K06624] |
|
| H00256 | Familial glucocorticoid deficiency | ... typically present within the first few months of life with symptoms related to cortisol deficiency, including recurrent illnesses or infections, hypoglycemia, convulsions, failure to thrive and shock. The ... | Endocrine and metabolic disease |
(FGD1) MC2R [HSA:4158] [KO:K04200] (FGD2) MRAP [HSA:56246] [KO:K22398] (FGD4) NNT [HSA:23530] [KO:K00323] (FGD5) TXNRD2 [HSA:10587] [KO:K22182] |
|
| H00287 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome | ... autosomal dominant fashion. Patients typically develop cystic acne, abscesses and cutaneous ulcers, including pyoderma gangrenosum-like lesions. PAPA syndrome is caused by gain-of function mutations in PSTPIP1 ... | Immune system disease | PSTPIP1 [HSA:9051] [KO:K12804] | |
| H00295 | Viral myocarditis | ... hypersensitivity drug reactions, giant-cell myocarditis, or sarcoidosis. More than 20 common viruses, including coxsackieviruses, adenoviruses, influenza viruses, cytomegaloviruses, and human immunodeficiency ... | Cardiovascular disease | hsa05416 Viral myocarditis | |
| H00297 | Plague | ... three major manifestations: bubonic, septicemic, and pneumonic plagues. Severe epidemics in the past include the Plague of Justinian in the sixth century, the Black Death in the fourteenth century, and the ... | Bacterial infectious disease | ||
| H00298 | Yersiniosis | ... which is zoonotic, capable of being transmitted from infected animals to man. Routes of transmission include fecal-oral spread via ingestion of contaminated food as the most common route and consumption of ... | Bacterial infectious disease | hsa05135 Yersinia infection | |
| H00301 | Klebsiella infection | ... ESBL are plasmid-mediated enzymes and these plasmids also carry resistance genes to other antibiotics including aminoglycosides, chloramphenicol, sulfonamides, trimethoprim, and tetracycline. Thus, Gram-negative ... | Bacterial infectious disease | ||
| H00304 | Haemophilus influenzae infection | ... at highest risk for meningitis. Invasive disease due to Hib may produce various clinical syndromes including meningitis, arthritis, pneumonia, cellulitis, osteomyelitis, and epiglottitis. Mucosal infections ... | Bacterial infectious disease | ||
| H00306 | Pasteurellosis | ... cavity. Most human infections are caused by dog or cat bites. Disseminated Pasteurella infections can lead to serious diseases including septic shock and meningitis mostly in infants and pregnant women. | Bacterial infectious disease | ||
| H00311 |
Legionellosis Legionnaires disease |
... self-limited, influenza-like disease that does not cause pneumonia. Patients who are at risk for infection include the immunosuppressed, especially those submitted to transplantation (mainly of solid organs), those ... | Bacterial infectious disease | hsa05134 Legionellosis | TLR5 [HSA:7100] [KO:K10168] |
| H00317 | Melioidosis | ... water and is endemic in areas of Southeast Asia and Northern Australia. There are many possible disease manifestations including melioidosis septic shock, pneumonia, and hepatic and splenic abscesses. | Bacterial infectious disease | TLR5 (resistance) [HSA:7100] [KO:K10168] | |
| H00319 |
Pertussis Whooping cough |
... also follow a much milder or subclinical course. Complications that are frequently associated with classical pertussis include pneumonia, otitis media, seizures, encephalopathy, and (brain) hemorrhages. | Bacterial infectious disease | hsa05133 Pertussis | |
| H00321 |
Campylobacter infection Campylobacteriosis |
... zoonoses. The transmission occurs via the fecal-oral route through ingestion of contaminated food and water. Serious sequelae of Campylobacter infection are reported, including Guillain-Barre syndrome. | Bacterial infectious disease | ||
| H00327 | Trench fever | ... World War II, but recently it reemerged in urban homeless populations of developed countries. The most frequent presentation of trench fever includes repeated cycles of high fever, headache, and dizziness. | Bacterial infectious disease | ||
| H00328 | Anthrax | ... spore-forming bacterium belonging to the Bacillus cereus group of pathogenic Bacillus, which also includes a food poisoning bacterium Bacillus cereus [DS:H00329] and an insect pathogen Bacillus thuringiensis ... | Bacterial infectious disease | ||
| H00332 | Listeriosis | ... foodborne infection with a high case fatality rate caused by Listeria monocytogenes. High-risk groups for listeriosis include elderly and immunocompromised patients, pregnant women, newborns, and infants. | Bacterial infectious disease | ||
| H00333 | Streptococcal infection | ... of infections each year, ranging from mild pharyngitis to severe streptococcal toxic shock-like syndrome (STSS), and GBS causes neonatal invasive infections including sepsis, pneumonia, and meningitis. | Bacterial infectious disease | ||
| H00341 | Mycoplasma pneumonia | ... self-replicating organisms that are most closely related to the gram-positive bacterial group that includes streptococci, bacilli, and lactobacilli. Mycoplasma pneumoniae is a member of the family Mycoplasmataceae ... | Bacterial infectious disease | ||
| H00343 | Diphtheria | ... incidence of the disease markedly decreased. However, diphtheria still remains endemic in several regions including Africa, India, Bangladesh, Vietnam, the tropics, and South America. Moreover, a large proportion ... | Bacterial infectious disease | ||
| H00346 |
Extrinsic allergic alveolitis Hypersensitivity pneumonitis |
... subjects may present clinically with a variety of symptoms. EAA is caused by a wide variety of antigens including bacteria, organic materials, fungal spores, and chemicals. Of the various EAA syndromes, Farmer's ... | Immune system disease | ||
| H00350 |
Psittacosis Parrot fever |
... gram-negative intracellular bacterium that is usually transmitted to humans from birds. Symptoms typically include high fevers, headache, myalgias, and a nonproductive cough. Although pneumonia is the most common ... | Bacterial infectious disease | ||
| H00361 | Malaria | ... transmitted by female Anopheline mosquitoes. Plasmodium infections result in a spectrum of clinical effects, including asymptomatic parasitemia, severe malaria, and death. Most severe cases occur in sub-Saharan Africa ... | Parasitic infectious disease | hsa05144 Malaria |
ACKR1 (protection) [HSA:2532] [KO:K06574] CD36 (susceptibility/reduced risk) [HSA:948] [KO:K06259] CISH (susceptibility) [HSA:1154] [KO:K04701] CR1 (resistance) [HSA:1378] [KO:K04011] FCGR2A (susceptibility) [HSA:2212] [KO:K06472] FCGR2B (resistance) [HSA:2213] [KO:K12560] G6PD (resistance) [HSA:2539] [KO:K00036] GYPA (resistance) [HSA:2993] [KO:K06575] GYPB (resistance) [HSA:2994] [KO:K20925] GYPC (resistance) [HSA:2995] [KO:K06576] HBB (resistance) [HSA:3043] [KO:K13823] ICAM1 (susceptibility) [HSA:3383] [KO:K06490] NOS2 (resistance) [HSA:4843] [KO:K13241] SLC4A1 (resistance) [HSA:6521] [KO:K06573] TIRAP (protection) [HSA:114609] [KO:K05403] TNF (susceptibility) [HSA:7124] [KO:K03156] |
| H00367 |
Infectious mononucleosis Epstein-Barr virus (EBV) infection |
... adenopathy. EBV establishes a life-long asymptomatic infection in B cells and can contribute to oncogenesis including Burkitt's lymphoma, nasopharyngeal carcinoma, Hodgkin lymphoma, and post-transplant B cell lymphomas | Viral infectious disease | hsa05169 Epstein-Barr virus infection | |
| H00373 | Mpox (Monkeypox) | ... central and western Africa. Human monkeypox has a clinical presentation similar to that of smallpox, including characteristic rash. Lymphadenopathy is not a common feature of smallpox and is therefore a key ... | Viral infectious disease | ||
| H00374 | Viral wart | ... (HPVs) are small DNA viruses of the papovavirus family that can be associated with various skin warts including common warts, plantar warts, plane warts, condyloma acuminatum, Bowenoid papulosis, epidermodysplasia ... | Viral infectious disease | ||
| H00378 |
Lyssavirus infection Rabies-related virus infection |
... family Rhabdoviridae and the order Mononegavirales of -ssRNA viruses. The genus Lyssavirus currently includes rabies virus [DS:H00377] and 6 rabies-related viruses. Rabies-related lyssaviruses utilize mostly ... | Viral infectious disease | ||
| H00379 | Mosquito-borne viral encephalitis | ... by arboviruses (arthropod-borne viruses) and transmitted by mosquitoes. Arboviruses are zoonotic viruses and consist of taxonomically different viruses, including flavivirus, alphavirus and bunyavirus. | Viral infectious disease | ||
| H00382 | Mosquito-borne viral fever | ... by arboviruses (arthropod-borne viruses) and transmitted by mosquitoes. Arboviruses are zoonotic viruses and consist of taxonomically different viruses, including flavivirus, alphavirus and bunyavirus. | Viral infectious disease |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |