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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02148 | Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis | Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrolithiasis. It is renal proximal tubulopathy in Japanese children that has similarities ... | Urinary system disease | CLCN5 [HSA:1184] [KO:K05012] | |
| H02149 | X-linked hypercalciuric nephrolithiasis | ... nephrolithiasis with renal failure, Dent disease, X-linked recessive hypophosphatemic rickets, and Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis. These syndromes differ in degree from each ... | Urinary system disease | CLCN5 [HSA:1184] [KO:K05012] | |
| H02176 | Cryptorchidism | ... the scrotum. It is the most common birth defect involving the male genitalia. It is associated with a higher risk of developing testicular tumors in adulthood. Studies in humans have investigated the possibility ... | Congenital malformation | INSL3 [HSA:3640] [KO:K21999] | |
| H02203 | Optic nerve hypoplasia | Optic nerve hypoplasia (ONH) is a congenital anomaly of the optic disc that might result in moderate to severe vision loss in children. ONH may occur as an isolated defect or in association with other ... | Congenital malformation | PAX6 [HSA:5080] [KO:K08031] | |
| H02205 | Mucopolysaccharidosis-plus syndrome | ... caused by deficiency of lysosomal enzyme. Patients show typical manifestations of MPS, and extremely high levels of plasma heparan sulphate. Additionally, most patients develop heart, kidney, and hematopoietic ... | Inherited metabolic disorder | VPS33A [HSA:65082] [KO:K20182] | |
| H02248 | MEND syndrome | ... integral membrane protein located mainly in the endoplasmic reticulum, which has dual functions as an enzyme converting cholestenol into lathosterol and as a high-affinity receptor for anti-ischaemic drugs. | Congenital malformation | EBP [HSA:10682] [KO:K01824] | |
| H02249 | Primrose syndrome | ... dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified pinnae. Recently, mutations in ZBTB20, coding for a zing finger protein ... | Congenital malformation | ZBTB20 [HSA:26137] [KO:K10501] | |
| H02251 |
Cerebroretinal microangiopathy with calcifications and cysts Coats plus syndrome |
... microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is a rare and highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. The ... | Nervous system disease |
(CRMCC1) CTC1 [HSA:80169] [KO:K23311] (CRMCC2) STN1 [HSA:79991] [KO:K23312] (CRMCC3) POT1 [HSA:25913] [KO:K11109] |
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| H02259 | Stormorken syndrome | ... STIM1 mutation found in Stormorken syndrome patients is located in the coiled-coil 1 domain, which might play a role in keeping STIM1 inactive. STIM1 encodes a major calcium sensor of the endoplasmic reticulum | Hematologic disease | STIM1 [HSA:6786] [KO:K16059] | |
| H02269 | Familial ventricular tachycardia | ... Familial ventricular tachycardia is usually attributable to recognized conditions such as arrhythmogenic right ventricular dysplasia, hypertrophic cardiomyopathy, familial cardiomyopathy or one of the long QT ... | Cardiovascular disease | GNAI2 [HSA:2771] [KO:K04630] | |
| H02333 | Laurin-Sandrow syndrome | ... that small microduplications within the ZRS region are the underlying genetic cause of LSS. ZRS is highly conserved in all vertebrates with limb appendages and consists of an 800bp enhancer sequence located ... | Congenital malformation | (LSS) ZRS/LMBR1 [HSA:64327] [KO:K25217] | |
| H02340 | Absorptive hypercalciuria | ... characterized by intestinal hyperabsorption of calcium in the presence of normal serum calcium and iPTH. In the patients, eighteen base substitutions were identified in the soluble adenylate cyclase gene. | Inherited metabolic disorder | ADCY10 [HSA:55811] [KO:K11265] | |
| H02353 |
Hyperekplexia and epilepsy Early infantile epileptic encephalopathy-8 |
... X-linked mental retardation and sensory hyperarousal, caused by mutations in ARHGEF9. Collybistin, encoded by ARHGEF9, is a RhoGEF family protein and highly expressed in the developing and adult brain. | Nervous system disease | ARHGEF9 [HSA:23229] [KO:K20686] | |
| H02354 |
Orf Contagious pustular dermatitis Contagious ecthyma |
Orf is a highly contagious zoonotic infectious disease caused by orf virus, a parapoxvirus in the Poxviridae family of dsDNA viruses. Orf virus is transmitted to humans by direct or indirect contact with ... | Viral infectious disease | ||
| H02372 |
Cystoisosporiasis Isosporiasis |
... transmission is through ingestion of sporulated oocysts contaminating food or water. It can cause severe diarrhea in immunocompromised patients, with a high rate of recurrence and risk of dissemination. | Parasitic infectious disease | ||
| H02389 | Familial dyskinesia with facial myokymia | ... and facial myokymia. Missense mutations in ADCY5 were reported as the cause of FDFM. ADCY5 is one of membrane-bound adenylyl cyclases. ADCY5 expression is particularly high in striatum and myocardium. | Nervous system disease | ADCY5 [HSA:111] [KO:K08045] | |
| H02392 |
Scedosporiosis Pseudoallescheriosis |
... has emerged as a severe infection in both immunocompromised and immunocompetent individuals with a high incidence, ranging from localized to disseminated infections worldwide. Infectious agents are ubiquitous ... | Fungal infectious disease | ||
| H02398 |
COVID-19 Coronavirus disease 2019 |
Coronavirus disease of 2019 (COVID-19) is a highly contagious respiratory infection that is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). SARS-CoV-2 infects alveolar epithelial ... | Viral infectious disease | hsa05171 Coronavirus disease - COVID-19 | |
| H02405 | Oesophagostomiasis | Oesophagostomiasis is an infectious disease normally caused by Oesophagostomum bifurcum. Oesophagostomum bifurcum is highly and focally endemic in northern Ghana and Togo. Oesophagostomum species in man were first found ... | Parasitic infectious disease | ||
| H02485 | Extraoral halitosis due to MTO deficiency | ... SELENBP1 in patients with cabbage-like breath odor have been identified. The malodor was attributable to high levels of methanethiol and dimethylsulfide in their breath. SELENBP1 has been identified as the human ... | Inherited metabolic disorder | SELENBP1 [HSA:8991] [KO:K17285] | |
| H02499 |
AL amyloidosis Immunoglobulin light chain amyloidosis |
Immunoglobulin light chain (AL) amyloidosis is the most common form of systemic amyloidosis. AL amyloidosis is a disorder of plasma cells or less commonly B cells that produce misfolded immunoglobulin ... | Endocrine and metabolic disease | ||
| H02531 | Familial breast-ovarian cancer | ... important breast cancer susceptibility genes are BRCA1 and BRCA2. Mutations in these genes confer a high risk of early-onset breast cancer and also an increased risk of ovarian cancer. Recently, mutations ... | Cancer |
(BROVCA1) BRCA1 [HSA:672] [KO:K10605] (BROVCA2) BRCA2 [HSA:675] [KO:K08775] (BROVCA3) RAD51C [HSA:5889] [KO:K10870] (BROVCA4) RAD51D [HSA:5892] [KO:K10871] (BROVCA5) PALB2 [HSA:79728] [KO:K10897] |
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| H02536 | Infection-induced acute encephalopathy | ... severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality ... | Nervous system disease; Infectious disease |
(IIAE1) UNC93B1 [HSA:81622] [KO:K26150] (IIAE2) TLR3 [HSA:7098] [KO:K05401] (IIAE3) RANBP2 [HSA:5903] [KO:K12172] (IIAE4) CPT2 [HSA:1376] [KO:K08766] (IIAE5) TRAF3 [HSA:7187] [KO:K03174] (IIAE6) TICAM1 [HSA:148022] [KO:K05842] (IIAE7) IRF3 [HSA:3661] [KO:K05411] (IIAE8) TBK1 [HSA:29110] [KO:K05410] (IIAE9) NUP214 [HSA:8021] [KO:K14317] (IIAE10) SNORA31 [HSA:677814] [KO:K26336] (IIAE11) DBR1 [HSA:51163] [KO:K18328] (IIAE12) RNH1 [HSA:6050] [KO:K16634] |
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| H02544 | Riboflavin deficiency | ... most common variations are located in the riboflavin transporter 2 (RFVT2) and 3 (RFVT3), that are highly expressed in brain and intestinal tissues, respectively [DS:H01903]. Deficiency of RFVT1, encoded ... | Endocrine and metabolic disease | SLC52A1 [HSA:55065] [KO:K22117] | |
| H02575 | Lactose intolerance, adult type | ... of the lactase phlorizin hydrolase (LPH) in intestinal cells after weaning. In a minority of adults, high levels of lactase activity persist in adulthood. Several lactase persistence alleles in the MCM6 ... | Inherited metabolic disorder | MCM6 [HSA:4175] [KO:K02542] | |
| H02588 |
NLRP1-associated autoinflammation with arthritis and dyskeratosis Autoinflammation with arthritis and dyskeratosis |
... (NAIAD) is an autoinflammatory disease characterized by recurrent fever, arthritis, dyskeratosis, and slight autoimmunity. It has been reported that mutations in NLRP1 cause this disease. NLRP1 plays a key ... | Immune system disease | NLRP1 [HSA:22861] [KO:K12798] | |
| H02601 |
Pulmonary arterial sling Vascular sling |
... relatively rare congenital anomaly in which left pulmonary artery branch originates abnormally from the right pulmonary artery, eventually resulting with respiratory symptoms, due to airway obstruction. The ... | Congenital malformation | ||
| H02602 | Congenital tricuspid valve stenosis | ... malformation characterized by narrowing of the tricuspid valve, which may restrict blood flow from the right atrium to the right ventricle. Congenital tricuspid valve stenosis is usually associated with other ... | Congenital malformation | ||
| H02604 | Chromosome 1q21.1 duplication syndrome | ... 1q21.1 contains extensive and complex low-copy repeats, and copy number variants are associated with highly variable phenotypes. Individuals with 1q21.1 deletions or duplications exhibit consistent deficits ... | Chromosomal abnormality | ||
| H02615 | Parenti-Mignot neurodevelopmental syndrome | ... It has been reported that missense and truncating variants in CHD5 cause this disease. CHD5 belongs to a highly conserved family of genes encoding ATP-dependent chromatin remodeling complex subunits. | Congenital malformation | CHD5 [HSA:26038] [KO:K14435] | |
| H02625 | Primordial dwarfism-immunodeficiency-lipodystrophy syndrome | ... clinical features for individuals with PRIM1 deficiency, particularly early childhood mortality. This might be accounted for by the significant B-cell lymphopenia and accompanying hypogammaglobulinemia. | Congenital malformation | PRIM1 [HSA:5557] [KO:K02684] | |
| H02657 | Sarcosinemia | Sarcosinemia is an autosomal recessive metabolic trait manifested by relatively high concentrations of sarcosine in blood and urine. Sarcosinemia has a varied phenotypic presentation. In rare cases, it ... | Inherited metabolic disorder | SARDH [HSA:1757] [KO:K00314] | |
| H02662 | Sulfide quinone oxidoreductase deficiency | Sulfide quinone oxidoreductase deficiency (SQORD) is a neurological disorder like Leigh syndrome [DS:H01354]. It is characterized by coma with lactic acidosis, and lesions in the basal ganglia. It has ... | Inherited metabolic disorder | SQOR [HSA:58472] [KO:K22470] | |
| H02681 | Short stature with nonspecific skeletal abnormalities | ... stature with nonspecific skeletal abnormalities (SNSK) is characterized by short stature defined as a height less than 2 SD below normal, no endocrine abnormalities. SNSK is caused by heterozygous mutation ... | Congenital malformation | NPR2 [HSA:4882] [KO:K12324] | |
| H02688 | Dworschak-Punetha neurodevelopmental syndrome | ... developmental delay, brain, and eye anomalies. It has been reported that mutations in PLXNA1 cause this disease. PLXNA1 encodes plexin A1, a transmembrane protein highly expressed in the developing nervous system. | Congenital malformation | PLXNA1 [HSA:5361] [KO:K06820] | |
| H02702 | Tylosis with esophageal cancer | ... autosomal-dominant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a high lifetime risk of esophageal cancer. It has been reported that mutations in RHBDF2 cause this disease ... | Congenital malformation | RHBDF2 [HSA:79651] [KO:K27588] | |
| H02736 | Neurodegeneration and seizures due to copper transport defect | ... brain atrophy. It has been reported that mutations in SLC31A1 cause this syndrome. SLC31A1 encodes a high-affinity copper uptake protein CTR1 that is essential for mammalian development and copper homeostasis | Nervous system disease | SLC31A1 [HSA:1317] [KO:K14686] | |
| H02739 | Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline | ... neurodegenerative disease caused by mutations in the SLC44A1 gene encoding choline transporter-like protein 1 (CTL1). CTL1 is a highly conserved Na+-independent, intermediate-affinity transporter of choline. | Nervous system disease | (CONATOC) SLC44A1 [HSA:23446] [KO:K06515] | |
| H02751 | Orthostatic hypotension | ... cardiac output or by defective or inadequate vasoconstrictor mechanisms. Characteristic symptoms include lightheadedness, dizziness, and syncope. Orthostatic hypotension is a common clinical problem, but the ... | Cardiovascular disease |
(ORTHYP1) DBH [HSA:1621] [KO:K00503] (ORTHYP2) CYB561 [HSA:1534] [KO:K08360] |
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