Search Result

 Top
41 to 80 of 129 Prev 1 2 3 4 Next
Entry Name Description Category Pathway Gene
H00950 Arthrogryposis, renal dysfunction, and cholestasis
ARC syndrome 		Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a fatal multisystem disorder that causes neonatal intrahepatic cholestasis. It also exhibits notable clinical variability showing anemia ... Congenital malformation VPS33B [HSA:26276] [KO:K23281]
VIPAR [HSA:63894] [KO:K23287]
H00970 Juvenile primary lateral sclerosis ... primary lateral sclerosis is a sporadic disorder of adult middle age, this disease is also observed in children as JPLS. JPLS arises from dysfunction of the upper motoneurons and the causative gene is ALS2. Neurodegenerative disease ALS2 [HSA:57679] [KO:K04575]
H00974 Blue cone monochromacy ... monochromacy (also known as X-linked recessive incomplete achromatopsia) is a congenital stationary cone dysfunction syndrome characterized by the absence of both red and green cone sensitivities. Vision is ... Nervous system disease OPN1LW [HSA:5956] [KO:K04251]
OPN1MW [HSA:2652] [KO:K04251]
H00989 Mohr-Tranebjaerg syndrome ... and optic atrophy. Mohr-Tranebjaerg syndrome is caused by mutations in the TIMM8A, a translocase of the inner mitochondrial membrane whose dysfunction leads to mitochondrial-based neural degeneration. Nervous system disease TIMM8A [HSA:1678] [KO:K17780]
H01000 Retinal vasculopathy with cerebral leukodystrophy ... with middle-age onset. At around the age of 45, affected individuals may develop retinal and cerebral dysfunction. Death occurs in most cases within 10 years of the first symptoms appearing. The disease-causing ... Nervous system disease TREX1 [HSA:11277] [KO:K10790]
H01006 Hereditary angioedema ... plasma whereas type 2 HAE, consisting approximately 15% of patients with HAE, is due to expression of a dysfunctional C1INH protein. HAE type III has been observed exclusively in women and appears to be correlated ... Cardiovascular disease (HAE1/2) SERPING1 [HSA:710] [KO:K04001]
(HAE3) F12 [HSA:2161] [KO:K01328]
(HAE4) PLG [HSA:5340] [KO:K01315]
(HAE5) ANGPT1 [HSA:284] [KO:K05465]
(HAE6) KNG1 [HSA:3827] [KO:K03898]
(HAE7) MYOF [HSA:26509] [KO:K22125]
(HAE8) HS3ST6 [HSA:64711] [KO:K09679]
H01033 Congenital bilateral absence of vas deferens ... frequently seen in cystic fibrosis (CF) that is characterized by progressive lung disease, pancreatic dysfunction, elevated sweat electrolytes, and male infertility. In 80% of patients with CBAVD, mutations ... Congenital malformation (CBAVD) CFTR [HSA:1080] [KO:K05031]
(CBAVDX) ADGRG2 [HSA:10149] [KO:K08451]
H01038 Cerebellar ataxia cayman type
Cayman ataxia 		... (ATCAY) is an autosomal recessive disorder characterized by hypotonia, mental retardation, and cerebellar dysfunction with marked cerebellar hypoplasia. It has been reported that mutation of the ATCAY gene encoding ... Nervous system disease ATCAY [HSA:85300] [KO:K18450]
H01122 Congenital pulmonary alveolar proteinosis
Pulmonary surfactant metabolism dysfunction 		Congenital pulmonary alveolar proteinosis is also known as pulmonary surfactant metabolism dysfunction (SMDP). It is caused by one of the three different genes associated with surfactant metabolism in ... Respiratory system disease (SMDP1) SFTPB [HSA:6439] [KO:K26067]
(SMDP2) SFTPC [HSA:6440] [KO:K26068]
(SMDP3) ABCA3 [HSA:21] [KO:K05643]
(SMDP4) CSF2RA [HSA:1438] [KO:K05066]
(SMDP5) CSF2RB [HSA:1439] [KO:K04738]
H01126 Familial renal glucosuria ... resorption of glucose from the urine in the absence of hyperglycemia and any other signs of tubular dysfunction. The vast majority of affected individuals are asymptomatic, but there is a rare propensity ... Inherited metabolic disorder SLC5A2 [HSA:6524] [KO:K14382]
H01161 Aromatic L-amino acid decarboxylase deficiency ... clinically characterized by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction in infancy. Mutations in the gene encoding for the enzyme AADC (DDC) lead to a severe combined ... Nervous system disease DDC [HSA:1644] [KO:K01593]
H01189 Transaldolase deficiency ... liver cirrhosis, but patients show common symptoms like hydrops fetalis, dysmorphic features, liver dysfunction (cirrhosis), hemolytic anemia with renal involvement, and heart problems. The biochemical ... Inherited metabolic disorder TALDO1 [HSA:6888] [KO:K00616]
H01190 Transcobalamin II deficiency ... thrive, mucosal ulceration, vomiting, diarrhoea, lethargy, irritability, and occasionally immunological dysfunction. Affected individuals may suffer from long-term neurological sequelae if therapy with intramuscular ... Inherited metabolic disorder TCN2 [HSA:6948] [KO:K14619]
H01198 Fanconi renotubular syndrome Fanconi renotubular syndrome (FRTS) is a disease resulting from a generalized dysfunction of the proximal kidney tubule leading to decreased solute and water reabsorption. Patients had a generalized proximal ... Inherited metabolic disorder (FRTS1) GATM [HSA:2628] [KO:K00613]
(FRTS2) SLC34A1 [HSA:6569] [KO:K14683]
(FRTS3) EHHADH [HSA:1962] [KO:K07514]
(FRTS4) HNF4A [HSA:3172] [KO:K07292]
(FRTS5) NDUFAF6 [HSA:137682] [KO:K18163]
H01219 Restrictive cardiomyopathy ... characterized by impaired ventricular filling and increased stiffness of the myocardium with diastolic dysfunction, resulting in atrial enlargement and elevated systemic and pulmonary venous pressure. To ... Cardiovascular disease (RCM1) TNNI3 [HSA:7137] [KO:K12044]
(RCM3) TNNT2 [HSA:7139] [KO:K12045]
(RCM4) MYPN [HSA:84665] [KO:K22028]
(RCM5) FLNC [HSA:2318] [KO:K27393]
(RCM6) KIF20A [HSA:10112] [KO:K10402]
DES [HSA:1674] [KO:K07610]
ACTC1 [HSA:70] [KO:K12314]
H01224 Ketosis-prone diabetes mellitus ... necessarily have the typical phenotype of autoimmune type 1 diabetes. Multiple, severe forms of beta-cell dysfunction appear to underlie the pathophysiology of KPD. KPD can be classified into four A beta groups ... Endocrine and metabolic disease PAX4 [HSA:5078] [KO:K08032]
H01235 Bleeding disorder platelet-type ... is a condition characterized by mild to moderate mucocutaneous bleeding. Patients are with platelet dysfunction but normal platelet number. It has been reported that these disorders are associated with ... Hematologic disease (BDPLT5/QPD) PLAU [HSA:5328] [KO:K01348]
(BDPLT8) P2RY12 [HSA:64805] [KO:K04298]
(BDPLT11) GP6 [HSA:51206] [KO:K06264]
(BDPLT13) TBXA2R [HSA:6915] [KO:K04264]
(BDPLT15) ACTN1 [HSA:87] [KO:K05699]
(BDPLT16) ITGA2B [HSA:3674] [KO:K06476]
(BDPLT17) GFI1B [HSA:8328] [KO:K09223]
(BDPLT18) RASGRP2 [HSA:10235] [KO:K12361]
(BDPLT19) PRKACG [HSA:5568] [KO:K04345]
(BDPLT20) SLFN14 [HSA:342618] [KO:K24445]
(BDPLT21) FLI1 [HSA:2313] [KO:K09436]
(BDPLT22) EPHB2 [HSA:2048] [KO:K05111]
(BDPLT24) ITGB3 [HSA:3690] [KO:K06493]
(BDPLT25) TPM4 [HSA:7171] [KO:K10375]
ITGA2 [HSA:3673] [KO:K06481]
H01342 Zellweger syndrome ... (ZS) is the most severe form seen in the peroxisome biogenesis disorder, characterized by neurological dysfunction, craniofacial abnormalities, eye abnormalities, hepatomegaly, and chondrodysplasia punctata ... Inherited metabolic disorder (PBD1A) PEX1 [HSA:5189] [KO:K13338]
(PBD2A) PEX5 [HSA:5830] [KO:K13342]
(PBD3A) PEX12 [HSA:5193] [KO:K13345]
(PBD4A) PEX6 [HSA:5190] [KO:K13339]
(PBD5A) PEX2 [HSA:5828] [KO:K06664]
(PBD6A) PEX10 [HSA:5192] [KO:K13346]
(PBD7A) PEX26 [HSA:55670] [KO:K13340]
(PBD8A) PEX16 [HSA:9409] [KO:K13335]
(PBD10A) PEX3 [HSA:8504] [KO:K13336]
(PBD11A) PEX13 [HSA:5194] [KO:K13344]
(PBD12A) PEX19 [HSA:5824] [KO:K13337]
(PBD13A) PEX14 [HSA:5195] [KO:K13343]
H01354 Leigh syndrome ... with peripheral nervous system involvement or non-neurologic abnormalities. In the majority of cases, dysfunction of the mitochondrial respiratory chain complex or of the pyruvate dehydrogenase complex are ... Inherited metabolic disorder, Mitochondrial disease NDUFS3 [HSA:4722] [KO:K03936]
NDUFS4 [HSA:4724] [KO:K03937]
NDUFS7 [HSA:374291] [KO:K03940]
NDUFS8 [HSA:4728] [KO:K03941]
NDUFA2 [HSA:4695] [KO:K03946]
NDUFA9 [HSA:4704] [KO:K03953]
NDUFA10 [HSA:4705] [KO:K03954]
NDUFA12 [HSA:55967] [KO:K11352]
NDUFAF2 [HSA:91942] [KO:K18160]
NDUFAF6 [HSA:137682] [KO:K18163]
FOXRED1 [HSA:55572] [KO:K18166]
SDHA [HSA:6389] [KO:K00234]
COX10 [HSA:1352] [KO:K02257]
COX15 [HSA:1355] [KO:K02259]
SURF1 [HSA:6834] [KO:K14998]
BCS1L [HSA:617] [KO:K08900]
TACO1 [HSA:51204] [KO:K18189]
(LSFC) LRPPRC [HSA:10128] [KO:K17964]
H01361 Eosinophilic esophagitis ... characterized by eosinophil infiltration into the esophageal epithelium and results in esophageal fibrosis and dysfunction. Several factors contribute to the development of EoE, including genetic predisposition, ... Immune system disease
H01381 Antithrombin III deficiency
Inherited Antithrombin deficiency 		... II deficiency, in which normal antigen levels are found in association with low AT activity due to a dysfunctional protein. Type II deficiencies can be further subclassified into three types, depending ... Hematologic disease SERPINC1 [HSA:462] [KO:K03911]
H01427 Mitochondrial disease Mitochondrial diseases are clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondria. They can be caused by mutation of genes encoded by either nuclear DNA or ... Inherited metabolic disorder
H01436 Guillain-Barre syndrome ... with areflexia. This disease is usually triggered by an infection, which provokes immune-mediated nerve dysfunction. GBS can be subdivided into the classic acute demyelinating type, acute motor axonal neuropathy ... Nervous system disease PMP22 [HSA:5376] [KO:K19289]
H01447 Body dysmorphic disorder ... serotonergic agents such as clomipramine or selective serotonin reuptake inhibitors (SSRIs), which suggests a dysfunction of central serotonergic neurotransmission as a possible etiological factor. A recent study ... Mental and behavioural disorder
H01456 Diabetic nephropathy ... (DN), also called diabetic kidney disease, is a microvascular complication of diabetes that induces dysfunction in various cell types of the kidney, ultimately leading to renal failure. A clinical syndrome ... Metabolic disease; Endocrine disease; Urinary system disease (Type 1 DN) VEGFA [HSA:7422] [KO:K05448]
(Type 1,2 DN) ACE [HSA:1636] [KO:K01283]
(Type 1,2 DN) SOD2 [HSA:6648] [KO:K04564]
H01483 Acromegaly ... elevated GH and IGF-I levels have an increased risk of multiple comorbidities, including left ventricular dysfunction, obstructive sleep apnea, arthritis, impaired glucose tolerance, and colonic polyps. Most ... Endocrine and metabolic disease AIP [HSA:9049] [KO:K17767]
GNAS [HSA:2778] [KO:K04632]
GPR101 [HSA:83550] [KO:K08423]
H01495 Meniere disease ... theories on its pathogenesis point to endolymphatic hydrops as one derangement responsible for producing dysfunction within the cochlea and peripheral vestibular apparatus. Although the familial clustering ... Nervous system disease
H01500 Lupus nephritis ... manifestations of active lupus nephritis include proteinuria, active urinary sediments, and progressive renal dysfunction. It is initiated by the deposition of immunoglobulins and formation of immune complexes in ... Immune system disease
H01506 Hepatic encephalopathy
Hepatic coma 		Hepatic encephalopathy (HE) is a brain dysfunction caused by liver insufficiency or portal systemic shunting. HE most commonly occurs in decompensated liver cirrhosis and incorporates a spectrum of manifestations ... Nervous system disease; Digestive system disease
H01513 Retinoblastoma ... the clinical stage and pathologic findings of the tumor. In retinoblastoma, mutation of RB1 leads to dysfunction or absence of the Rb protein. These mutations promote tumour development by deregulating ... Cancer RB1 (mutation) [HSA:5925] [KO:K06618]
MDM4 (amplification) [HSA:4194] [KO:K10127]
MDM2 (amplification) [HSA:4193] [KO:K06643]
KIF14 (amplification) [HSA:9928] [KO:K17915]
CDH11 (loss) [HSA:1009] [KO:K06803]
p16/INK (loss) [HSA:1029] [KO:K06621]
H01528 Neuroleptic malignant syndrome ... to antipsychotic drugs characterized by fever, altered mental status, muscle rigidity, and autonomic dysfunction. NMS is classically associated with the use of high-potency antipsychotics (AP), such as ... Nervous system disease
H01567 Thiamine pyrophosphokinase deficiency
Thiamine metabolism dysfunction syndrome 5 		... Leigh syndrome like early-onset global developmental delay. TPK deficiency is one of thiamine metabolism dysfunction syndrome caused by TPK1 mutations. TPK produces thiamine pyrophosphate (TPP). TPP is a cofactor ... Inherited metabolic disorder TPK1 [HSA:27010] [KO:K00949]
H01587 Disseminated intravascular coagulation ... originate from and cause damage to the microvasculature, which if sufficiently severe, can produce organ dysfunction. DIC is not a disease entity on itself but is always associated to an underlying disease ... Hematologic disease
H01596 Lambert-Eaton myasthenic syndrome ... clinical triad in LEMS consists of weakness predominantly affecting proximal muscle groups, autonomic dysfunctions, and areflexia. Besides oncological treatment in case of SCLC-LEMS, treatment is based on ... Immune system disease; Nervous system disease
H01604 Polymyositis and dermatomyositis ... proximal muscle weakness and a skin rash. The disease mechanisms of PM and DM that cause muscle damage and dysfunction are not fully understood. However, because of the association with other autoimmune diseases ... Musculoskeletal disease
H01614 Multiple system atrophy ... autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. MSA encompasses striatonigral degeneration, olivopontocerebellar atrophy, and Shy-Drager ... Neurodegenerative disease COQ2 [HSA:27235] [KO:K06125]
H01621 Pulmonary arterial hypertension Pulmonary arterial hypertension (PAH) is a progressive disorder in which endothelial dysfunction and vascular remodeling obstruct small pulmonary arteries, resulting in increased pulmonary vascular resistance ... Cardiovascular disease (PPH1) BMPR2 [HSA:659] [KO:K04671]
(PPH2) SMAD9 [HSA:4093] [KO:K16791]
(PPH3) CAV1 [HSA:857] [KO:K06278]
(PPH4) KCNK3 [HSA:3777] [KO:K04914]
(PPH5) ATP13A3 [HSA:79572] [KO:K14951]
(PPH6) CAPNS1 [HSA:826] [KO:K08583]
(HHT2) ACVRL1 [HSA:94] [KO:K13594]
(PVOD2) EIF2AK4 [HSA:440275] [KO:K16196]
H01641 Dry eye disease
Keratoconjunctivitis sicca 		... requires more aggressive treatment. Evapourative dry eye is most commonly a result of meibomian gland dysfunction. Tests used to diagnose dry eye disease and to assess efficacy of treatments in clinical ... Nervous system disease
H01642 Renal anemia ... cardiovascular disease. Renal anemia is caused by the deficiency of endogenous erythropoietin (EPO) due to renal dysfunction. EPO is a glycoprotein hormone that has the role of the primary regulator of erythropoiesis ... Urinary system disease
H01644 Blepharitis ... inflammation of the meibomian glands and their orifices and may be a result of or cause of meibomian gland dysfunction (MGD). MGD is one cause of posterior blepharitis but others include infectious or allergic ... Nervous system disease
41 to 80 of 129 Prev 1 2 3 4 Next
[ KEGG | DISEASE | DRUG | MEDICUS ]