Search Result

81 to 120 of 254 Prev 1 2 3 4 5 6 7 Next

Entry	Name	Description	Category	Gene
H00955	Granular corneal dystrophies	... slowly increase in number and progress into deeper parts of the cornea. The disease is typically asymptomatic, but can present with pain from recurrent erosions and decreased vision. Opacities in granular dystrophy ...	Nervous system disease	TGFBI [HSA:7045] [KO:K19519]
H00957	Fleck corneal dystrophy Francois-Neetens speckled corneal dystrophy	Fleck corneal dystrophy (FCD) is a rare corneal dystrophy characterized by multiple asymptomatic, non-progressive symmetric minute opacities disseminated throughout the corneal stroma. FCD does not affect ...	Nervous system disease	PIP5K3 [HSA:200576] [KO:K00921]
H00961	Posterior polymorphous corneal dystrophy	... irregular thickening of DM due to the deposition of an abnormal collagenous layer. Most cases are static, but occasionally rapid progression can result in severe visual disability from secondary glaucoma ...	Nervous system disease	(PPCD1) OVOL2 [HSA:58495] [KO:K09216] (PPCD2) COL8A2 [HSA:1296] [KO:K23455] (PPCD3) ZEB1 [HSA:6935] [KO:K09299] (PPCD4) GRHL2 [HSA:79977] [KO:K09275]
H00966	AICA-ribosiduria ATIC deficiency	AICA-ribosiduria is a neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Defects of purine metabolism are characterised by abnormal concentrations of substrates of defective ...	Inherited metabolic disorder	ATIC [HSA:471] [KO:K00602]
H00988	Enterokinase deficiency Enteropeptidase deficiency	... to thrive. Enterokinase is a serine protease of the intestinal brush border in the proximal small intestine. It activates the pancreatic proenzyme trypsinogen, which releases active digestive enzymes.	Inherited metabolic disorder	TMPRSS15 [HSA:5651] [KO:K01316]
H00996	Amish infantile epilepsy syndrome	Amish infantile epilepsy syndrome is an autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness. A mutation in SIAT9, which is predicted to result ...	Inherited metabolic disorder	ST3GAL5 [HSA:8869] [KO:K03370]
H01001	COACH syndrome	... autosomal recessive disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. The vermis hypoplasia comprises a part of a spectrum of mid-hindbrain malformation called ...	Congenital malformation	(COACH1) TMEM67 [HSA:91147] [KO:K19348] (COACH2) CC2D2A [HSA:57545] [KO:K19352] (COACH3) RPGRIP1L [HSA:23322] [KO:K16550]
H01005	Dopamine beta-hydroxylase deficiency Norepinephrine deficiency Noradrenaline deficiency	... very rare form of primary autonomic failure characterized by cardiovascular disorders and severe orthostatic hypotension. DBH deficiency is caused by a series of mutations in the DBH gene encoding the key ...	Nervous system disease	DBH [HSA:1621] [KO:K00503]
H01031	Orthostatic intolerance Postural tachycardia syndrome	Orthostatic intolerance (OI) or postural tachycardia syndrome (POTS) is a disorder of the autonomic nervous system primarily affecting young females, and is characterized by lightheadedness, palpitations ...	Cardiovascular disease	SLC6A2 [HSA:6530] [KO:K05035]
H01033	Congenital bilateral absence of vas deferens	... azoospermia 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]
H01042	Buruli ulcer	... BU is a serious necrotizing cutaneous infection caused by Mycobacterium ulcerans that is related to the aquatic environment. BU is characterized by indolent, typically painless necrotizing skin lesions.	Bacterial infectious disease
H01048	Liver fluke disease Fascioliasis	Fascioliasis is a foodborne zoonotic disease caused by the liver flukes Fasciola hepatica and Fasciola gigantica. Whereas in Europe, the Americas and Oceania only F. hepatica is concerned, the distributions ...	Parasitic infectious disease
H01053	Paroxysmal nocturnal hemoglobinuria	... intravascular hemolytic anemia that results from the clonal expansion of hematopoietic stem cells harboring somatic mutations in an X-linked gene, termed PIG-A. PIG-A is required for the biosynthesis of a lipid moiety ...	Hematologic disease	(PNH1) PIGA [HSA:5277] [KO:K03857] (PNH2) PIGT [HSA:51604] [KO:K05292]
H01061	Mansonelliasis	... perstans, is transmitted by tiny blood-sucking flies (biting midges). Infections are usually asymptomatic with no distinct and specific clinical picture but may cause transient upper abdominal pain, subcutaneous ...	Parasitic infectious disease
H01071	Acute alcohol sensitivity	... flush reaction. More than 40% of the East Asians population carries a common ALDH2 mutant allele, which results in a dramatic reduction in the enzymatic activity when compared with the wild-type allele.	Inherited metabolic disorder	ALDH2 [HSA:217] [KO:K00128]
H01074	Aeromonas infection	Members of the genus Aeromonas are gram-negative bacteria that inhabit various aquatic environments. It can cause a wide spectrum of disease in humans as well as other animals, with gastroenteritis being ...	Bacterial infectious disease
H01085	Diphyllobothriasis	... countries such as Russia and Japan. The worm is acquired by eating raw or poorly cooked fish including salted or marinated fillets. Many infections with this parasite are reported to be mild or asymptomatic.	Parasitic infectious disease
H01086	Lymphatic filariasis	Lymphatic filariasis is a mosquito-borne parasitic nematode infection in tropical and subtropical areas of Asia, Africa, the Western Pacific, and some parts of the Americas. Disease pathogenesis is linked ...	Parasitic infectious disease
H01087	Balantidiasis Balantidial dysentery	... acquired by humans via the fecal-oral route from the natural reservoir, pigs. Humans may remain asymptomatic or may develop dysentery due to the ulcerations in the colon. Balantidiasis is mostly restricted ...	Parasitic infectious disease
H01090	Ascariasis	... documented parasitic infection in sub-Saharan Africa, the Americas, China, and east Asia. Morbidity and mortality increase with worm burden and those who harbor light infections tend to be asymptomatic.	Parasitic infectious disease
H01098	Pentastomiasis	... pentastomes (tongue worms), generally limited to the tropics and subtropical areas. Its definitive hosts are reptiles whilst humans serve as rare intermediate hosts. Infection is usually asymptomatic.	Parasitic infectious disease
H01100	Strongyloidiasis	... disease occurs worldwide, but especially in tropical and subtropical regions. Most patients are asymptomatic, but the ability of this nematode to replicate in the human host leads to persistent infections ...	Parasitic infectious disease
H01101	Combined lipase deficiency	... 1 (LMF1). LMF1 is a chaperone of the endoplasmic reticulum and it is required for the post-translational activation of three vascular lipases, lipoprotein lipase, hepatic lipase and endothelial lipase.	Inherited metabolic disorder	LMF1 [HSA:64788] [KO:K23555]
H01104	Loiasis	Loiasis is an infection with Loa loa, a filarial parasite found in central Africa transmitted by Chrysops fly bites. Loiasis is often asymptomatic.	Parasitic infectious disease
H01110	Pneumothorax	... defined as air or gas accumulated in the pleural space and can be classified as spontaneous or traumatic. Traumatic pneumothorax includes iatrogenic cases caused during procedures such as pacemaker insertion ...	Respiratory system disease	FLCN [HSA:201163] [KO:K09594]
H01112	Polyhydramnios, megalencephaly, and symptomatic epilepsy PMSE syndrome	Polyhydramnios, megalencephaly, symptomatic epilepsy (PMSE) is a severe human developmental and epileptic syndrome caused by a homozygous partial deletion in the STRAD-alpha gene (LYK5), truncating 180 ...	Congenital malformation	STRADA [HSA:92335] [KO:K08271]
H01123	HMG-CoA synthase deficiency	... higher eukaryotes: the cytosolic HMGCS1 and mitochondrial HMGCS2. Mitochondrial HMGCS2 is involved in hepatic ketogenesis, and HMGCS2 deficiency causes hypoketotic hypoglycaemia after prolonged fasting. To ...	Inherited metabolic disorder, Mitochondrial disease	HMGCS2 [HSA:3158] [KO:K01641]
H01124	Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency	... neonatal epileptic encephalopathy with severe seizures which do not respond to anticonvulsant drugs or pyridoxine but shows a dramatic response to PLP. Pathogenic mutations in PNPO gene have been identified.	Nervous system disease	PNPO [HSA:55163] [KO:K00275]
H01126	Familial renal glucosuria	... hyperglycemia and any other signs of tubular dysfunction. The vast majority of affected individuals are asymptomatic, but there is a rare propensity to develop hypoglycemia and hypovolemia. FRG is associated with ...	Inherited metabolic disorder	SLC5A2 [HSA:6524] [KO:K14382]
H01127	PIGM-congenital disorder of glycosylation	PIGM-congenital disorder of glycosylation (PIGM-CDG) is an autosomal recessive disorder characterized by portal- and hepatic-vein thrombosis and epilepsy. Hypomorphic promoter mutation in PIGN causes this disorder.	Inherited metabolic disorder	PIGM [HSA:93183] [KO:K05284]
H01134	Rhabdoid predisposition syndrome	... malignant rhabdoid tumors in the kidney or retroperitoneum. The vast majority demonstrate biallelic somatic inactivation of the SMARCB1 tumor suppressor within tumor cells. Mutations in SMRCA4 gene have also ...	Cancer	(RTPS1) SMARCB1 [HSA:6598] [KO:K11648] (RTPS2) SMARCA4 [HSA:6597] [KO:K11647]
H01135	Ribose 5-phosphate isomerase deficiency	... diagnosed case. The patient presented with progressive leukoencephalopathy and peripheral neuropathy. Systematic metabolic profiling identified elevated levels of arabitol and ribitol in affected brain regions ...	Inherited metabolic disorder	RPIA [HSA:22934] [KO:K01807]
H01161	Aromatic L-amino acid decarboxylase deficiency	Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive disorders of monoamine neurotransmitter metabolism, clinically characterized by vegetative symptoms, oculogyric crises, dystonia ...	Nervous system disease	DDC [HSA:1644] [KO:K01593]
H01165	Novosphingobium aromaticivorans infection	Novosphingobium aromaticivorans is a gram-negative aerobic bacterium that is well known for its ability to degrade phenolic structures. N. aromaticivorans has been reported to trigger the development of ...	Bacterial infectious disease
H01186	Abnormal thyroid hormone metabolism	... selenocysteine (Sec) incorporation defect, caused by mutations in SECISBP2 (also called SBP2). Because SBP2 is epistatic to selenoprotein synthesis, these defects have a generalized effect on selenoproteins.	Endocrine and metabolic disease	(THMA1) SECISBP2 [HSA:79048] [KO:K19539] (THMA2) DIO1 [HSA:1733] [KO:K01562]
H01188	Tn syndrome	... be due to a malfunction of the glycosylating enzyme T-synthase. Tn syndrome is associated with a somatic mutation in Cosmc gene, encoding a molecular chaperone that is required for the proper folding and ...	Hematologic disease	COSMC [HSA:29071] [KO:K09653]
H01191	Asthma with nasal polyps and aspirin intolerance	... some patients with asthma, aspirin and all nonsteroidal anti-inflammatory drugs (NSAIDs) trigger asthmatic attacks. This clinical syndrome is characterized by eosinophilic inflammation of nasal and bronchial ...	Immune system disease	TBX21 [HSA:30009] [KO:K10166] PTGER2 [HSA:5732] [KO:K04259]
H01192	Lysyl hydroxylase 3 deficiency Bone fragility with contractures arterial rupture and deafness	... lysyl hydroxylase activity, LH3 has also collagen galactosyltransferase and glucosyltransferase activities. It has been reported that one mutation dramatically reduced the sugar-transfer activity of LH3.	Congenital malformation	PLOD3 [HSA:8985] [KO:K13646]
H01211	MECP2-related severe neonatal encephalopathy	MECP2-related severe neonatal encephalopathy is a rare disorder of males characterized by a static encephalopathy, severe developmental delays, hypotonia, seizures, and respiratory abnormalities that often ...	Congenital malformation	MECP2 [HSA:4204] [KO:K11588]
H01221	Epithelial basement membrane corneal dystrophy Cogan microcystic epithelial dystrophy Map-dot-fingerprint dystrophy	... and extending superficially into the epithelium are the hallmarks of EBMD. Most patients are asymptomatic before the age of 30 years, but 10% of them may have recurrent idiopathic erosions and a loss of ...	Nervous system disease	TGFBI [HSA:7045] [KO:K19519]

81 to 120 of 254 Prev 1 2 3 4 5 6 7 Next