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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00602 |
Glucocorticoid-remediable aldosteronism (GRA) Familial hyperaldosteronism type I |
... cortisol-secreting zona fasciculata of the adrenal gland under the control of adrenocorticotropin (ACTH). The high levels of mineralocorticoids activate the mineralocorticoid receptor (MR) and upregulate Na reabsorption ... | Endocrine and metabolic disease |
CYP11B1 [HSA:1584] [KO:K00497] CYP11B2 [HSA:1585] [KO:K07433] |
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| H00626 | Focal segmental glomerulosclerosis | ... to end stage kidney disease (ESKD). FSGS is defined as a clinicopathologic syndrome manifesting with high-grade proteinuria, associated with lesions of focal and segmental glomerular sclerosis and foot-process ... | Urinary system disease |
(FSGS1) ACTN4 [HSA:81] [KO:K05699] (FSGS2) TRPC6 [HSA:7225] [KO:K04969] (FSGS3) CD2AP [HSA:23607] [KO:K13738] (FSGS4) APOL1 [HSA:8542] [KO:K23585] (FSGS5) INF2 [HSA:64423] [KO:K23958] (FSGS6) MYO1E [HSA:4643] [KO:K10356] (FSGS7) PAX2 [HSA:5076] [KO:K15608] (FSGS8) ANLN [HSA:54443] [KO:K18621] (FSGS9) CRB2 [HSA:286204] [KO:K16681] (FSGS10) LMX1B [HSA:4010] [KO:K09371] (FSGSNEDS) TRIM8 [HSA:81603] [KO:K12001] |
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| H00632 |
Heterotaxy Situs ambiguus |
... abnormal arrangement of the thoracic and abdominal viscera. The phenotype with mirror-image reversed left-right axis is called situs inversus, while partial alterations in the left-right organization is referred ... | Congenital malformation |
(HTX1) ZIC3 [HSA:7547] [KO:K18487] (HTX2) CFC1 [HSA:55997] [KO:K25454] (HTX4) ACVR2B [HSA:93] [KO:K13596] (HTX5) NODAL [HSA:4838] [KO:K04666] (HTX6) CFAP53 [HSA:220136] [KO:K24225] (HTX7) MMP21 [HSA:118856] [KO:K08000] (HTX8) PKD1L1 [HSA:168507] [KO:K04987] (HTX9) MNS1 [HSA:55329] [KO:K25441] (HTX10) CFAP52 [HSA:146845] [KO:K24728] (HTX11) CFAP45 [HSA:25790] [KO:K25551] (HTX12) CIROP [HSA:100128908] (RAI) GDF1 [HSA:2657] [KO:K05495] |
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| H00663 | Restrictive dermopathy | ... autosomal recessive genodermatosis caused by mutations in either LMNA or ZMPSTE24. Manifestations include a tight, thin, translucent skin, typical face, multiple joint contractures, enlarged fontanelles, and dysplasia ... | Congenital malformation |
(RSDM1) ZMPSTE24 [HSA:10269] [KO:K06013] (RSDM2) LMNA [HSA:4000] [KO:K12641] |
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| H00667 | Woolly hair | Woolly hair (WH) is a group of hair shaft dystrophies characterized by fine and tightly curled hair. WH is inherited in either autosomal dominant and autosomal recessive manner. Autosomal recessive woolly ... | Congenital malformation |
(ADWH) KRT74 [HSA:121391] [KO:K07605] (ARWH1/HYPT8) LPAR6 [HSA:10161] [KO:K04273] (ARWH2/HYPT7) LIPH [HSA:200879] [KO:K19404] (ARWH3) KRT25 [HSA:147183] [KO:K07604] (WHSF) TUFT1 [HSA:7286] [KO:K27192] |
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| H00669 | Naxos disease | ... characterized by cardiomyopathy, palmoplantar keratoderma, and woolly hair. Cardiac manifestation in patients with Naxos disease is arrhythmogenic right ventricular cardiomyopathy that appears by adolescence. | Congenital malformation | JUP [HSA:3728] [KO:K10056] | |
| H00672 | Pseudofolliculitis barbae | ... pustules that result in keloidal scarring localized to the facial and submental regions. It is caused when highly curved hair shafts repenetrate the skin. A single nucleotide polymorphism in KRT75, which leads ... | Skin disease | KRT75 [HSA:9119] [KO:K07605] | |
| H00691 |
Bullous congenital ichthyosiform erythroderma (BCIE) Epidermolytic hyperkeratosis (EHK) |
... is characterized by erythema and skin blistering of the newborn. The erythema is replaced with thick scaling later. Neonates with BCIE have higher risk of developing severe infection, such as sepsis. | Congenital malformation |
(EHK1) KRT1 [HSA:3848] [KO:K07605] (EHK2A/2B) KRT10 [HSA:3858] [KO:K07604] |
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| H00694 | Dent disease | ... tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. The ... | Urinary system disease |
(DENT1) CLCN5 [HSA:1184] [KO:K05012] (DENT2) OCRL [HSA:4952] [KO:K01099] |
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| H00711 |
Russell-Silver syndrome Silver-Russell syndrome |
... involving the H19 and IGF2 genes. SRS2 is caused by maternal uniparental disomy of chromosome 7. The high proportion of patients with unidentified molecular etiology suggests the involvement of other genes | Congenital malformation |
(SRS3) IGF2 [HSA:3481] [KO:K13769] (SRS4) PLAG1 [HSA:5324] [KO:K19484] (SRS5) HMGA2 [HSA:8091] [KO:K09283] |
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| H00720 | Long QT syndrome | ... individuals. Anesthesia in a patient with LQTS can trigger malignant arrhythmias and is therefore a high-risk procedure. There are two well-known syndromes with a long QT interval. The Romano-Ward syndrome ... | Cardiovascular disease |
(LQT1) KCNQ1 [HSA:3784] [KO:K04926] (LQT2) KCNH2 [HSA:3757] [KO:K04905] (LQT3) SCN5A [HSA:6331] [KO:K04838] (LQT4) ANK2 [HSA:287] [KO:K09255] (LQT5) KCNE1 [HSA:3753] [KO:K04894] (LQT6) KCNE2 [HSA:9992] [KO:K04896] (LQT7) KCNJ2 [HSA:3759] [KO:K04996] (LQT8) CACNA1C [HSA:775] [KO:K04850] (LQT9) CAV3 [HSA:859] [KO:K12959] (LQT10) SCN4B [HSA:6330] [KO:K04848] (LQT11) AKAP9 [HSA:10142] [KO:K16551] (LQT12) SNTA1 [HSA:6640] [KO:K24063] (LQT13) KCNJ5 [HSA:3762] [KO:K04999] (LQT14) CALM1 [HSA:801] [KO:K02183] (LQT15) CALM2 [HSA:805] [KO:K02183] (LQT16) CALM3 [HSA:808] [KO:K02183] |
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| H00734 | Autosomal recessive congenital ichthyosis | ... and non-bullous congenital ichthyosiform erythroderma (NBCIE). LI shows more severe phonotype with tight covering of a newborn that is later replaced by large, dark scales. In contrast, NBCIE shows a more ... | Congenital malformation |
(ARCI1/ LI1) TGM1 [HSA:7051] [KO:K05619] (ARCI2/ NBCIE) ALOX12B [HSA:242] [KO:K08021] (ARCI3/ LI5) ALOXE3 [HSA:59344] [KO:K18684] (ARCI4/ LI2) ABCA12 [HSA:26154] [KO:K05646] (ARCI5/ LI3) CYP4F22 [HSA:126410] [KO:K17731] (ARCI6) NIPAL4 [HSA:348938] [KO:K22733] (ARCI8/ LI4) LIPN [HSA:643418] [KO:K24210] (ARCI9) CERS3 [HSA:204219] [KO:K24622] (ARCI10) PNPLA1 [HSA:285848] [KO:K16813] (ARCI11) ST14 [HSA:6768] [KO:K08670] (ARCI12) CASP14 [HSA:23581] [KO:K04401] (ARCI13) SDR9C7 [HSA:121214] [KO:K24425] (ARCI14) SULT2B1 [HSA:6820] [KO:K01015] |
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| H00742 |
Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) |
... cholangitis (NISCH) syndrome is an autosomal recessive liver disease caused by mutations of Claudin-1, a tight-junction protein expressed in liver and skin. Patients present epidermal scaling, pruritus, and ... | Congenital malformation | CLDN1 [HSA:9076] [KO:K06087] | |
| H00748 | Andersen-Tawil syndrome | ... hypotelorism, low-set ears, digit clinodactyly, and 2-3 syndactyly of the toes. It is obvious that ATS has a high degree of phenotypic heterogeneity. ATS patients have loss-of-function mutations in the KCNJ2 gene ... | Congenital malformation | KCNJ2 [HSA:3759] [KO:K04996] | |
| H00764 |
Chromosome 5p deletion syndrome Cri du chat syndrome Cat cry syndrome |
... deletion of variable size occurring on the short arm of chromosome 5. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal ... | Chromosomal abnormality |
SEMA5A [HSA:9037] [KO:K06841] CTNND2 [HSA:1501] [KO:K23491] TERT [HSA:7015] [KO:K11126] |
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| H00787 | Congenital stationary night blindness | Congenital stationary night blindness (CSNB) is a group of nonprogressive retinal disorders characterized by impaired night vision. CSNB is currently associated with X-linked genes (NYX, CACNA1F), autosomal ... | Nervous system disease |
(CSNB1A) NYX [HSA:60506] [KO:K08129] (CSNB1B) GRM6 [HSA:2916] [KO:K04608] (CSNB1C) TRPM1 [HSA:4308] [KO:K04976] (CSNB1D) SLC24A1 [HSA:9187] [KO:K13749] (CSNB1E) GPR179 [HSA:440435] [KO:K22961] (CSNB1F) LRIT3 [HSA:345193] [KO:K24491] (CSNB1H) GNB3 [HSA:2784] [KO:K07825] (CSNB1I) GUCY2D [HSA:3000] [KO:K12321] (CSNB2A) CACNA1F [HSA:778] [KO:K04853] (CSNB2B) CABP4 [HSA:57010] [KO:K23531] (CSNBAD1) RHO [HSA:6010] [KO:K04250] (CSNBAD2) PDE6B [HSA:5158] [KO:K13756] (CSNBAD3 CSNB1G) GNAT1 [HSA:2779] [KO:K04631] (CSNBO1) SAG [HSA:6295] [KO:K19627] (CSNBO2) GRK1 [HSA:6011] [KO:K00909] |
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| H00791 | Disseminated superficial actinic porokeratosis (DSAP) | ... lamella. Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis. It is induced by exposure to ultraviolet light and usually appears during the third or fourth decade. | Congenital malformation | SART3 [HSA:9733] [KO:K22611] | |
| H00856 | Distal hereditary motor neuropathies | Distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory ... | Nervous system disease |
(HMND2) HSPB8 [HSA:26353] [KO:K08879] (HMND3) HSPB1 [HSA:3315] [KO:K04455] (HMND4) HSPB3 [HSA:8988] [KO:K09544] (HMND5) GARS1 [HSA:2617] [KO:K01880] (HMND6) FBXO38 [HSA:81545] [KO:K10313] (HMND7) SLC5A7 [HSA:60482] [KO:K14387] (HMND8) TRPV4 [HSA:59341] [KO:K04973] (HMND9) WARS1 [HSA:7453] [KO:K01867] (HMND10) EMILIN1 [HSA:11117] [KO:K24246] (HMND11) SPTAN1 [HSA:6709] [KO:K06114] (HMND12/HMNR6) REEP1 [HSA:65055] [KO:K17338] (HMND13) BSCL2 [HSA:26580] [KO:K19365] (HMND14) DCTN1 [HSA:1639] [KO:K04648] (HMNR1) IGHMBP2 [HSA:3508] [KO:K19036] (HMNR2) SIGMAR1 [HSA:10280] [KO:K20719] (HMNR4) PLEKHG5 [HSA:57449] [KO:K19464] (HMNR5) DNAJB2 [HSA:3300] [KO:K09508] (HMNR7) VWA1 [HSA:64856] [KO:K24507] (HMNR8) SORD [HSA:6652] [KO:K00008] (HMNR9) COQ7 [HSA:10229] [KO:K06134] (HMNR10) VRK1 [HSA:7443] [KO:K08816] (HMNX) ATP7A [HSA:538] [KO:K17686] |
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| H00857 | Oligodontia-colorectal cancer syndrome | ... inheritance in which severe permanent tooth agenesis and a variable colorectal neoplasia occur. Affected individuals lack at least eight permanent teeth. The disease is caused by a nonsense mutation in AXIN2. | Congenital malformation | AXIN2 [HSA:8313] [KO:K04385] | |
| H00874 |
Leukoencephalopathy with dystonia and motor neuropathy Sterol carrier protein 2 deficiency |
... the breakdown of branched-chain fatty acids. The patient presents with torticollis and dystonic head tremor as well as slight cerebellar signs with intention tremor, nystagmus, hyposmia, and azoospermia. | Inherited metabolic disorder, Peroxisomal disease | SCP2 [HSA:6342] [KO:K08764] | |
| H00879 | Perry syndrome | ... dominant, neurodegenerative disorder. The cardinal symptoms consist of parkinsonism, depression, severe weight loss and hypoventilation. At a molecular level, Perry syndrome is characterized by TDP-43 inclusions ... | Neurodegenerative disease | DCTN1 [HSA:1639] [KO:K04648] | |
| H00886 |
Donnai-Barrow syndrome Faciooculoacousticorenal syndrome |
... craniofacial features (ocular hypertelorism, enlarged fontanelle), ophthalmological abnormalities (high myopia, iris stromal hypoplasia), severe sensorineural deafness, congenital diaphragmatic hernia ... | Congenital malformation | LRP2 [HSA:4036] [KO:K06233] | |
| H00889 |
Lujan-Fryns syndrome X-linked mental retardation with Marfanoid habitus |
... characterized by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate, a small or receding chin, long hands with hyperextensible digits, hypernasal speech ... | Congenital malformation | MED12 [HSA:9968] [KO:K15162] | |
| H00894 |
FG syndrome Opitz-Kaveggia syndrome |
... is a rare X-linked multiple congenital anomaly/mental retardation (MCA/MR) disorder characterized by high clinical variability and genetic heterogeneity. The cardinal features of the syndrome are congenital ... | Congenital malformation |
(FGS1) MED12 [HSA:9968] [KO:K15162] (FGS2) FLNA [HSA:2316] [KO:K04437] (FGS4) CASK [HSA:8573] [KO:K06103] |
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| H00899 | Lysinuric protein intolerance | ... impairment. LPI is caused by mutations in the SLC7A7 gene, which encodes the y+LAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family. | Inherited metabolic disorder | SLC7A7 [HSA:9056] [KO:K13867] | |
| H00918 | Double-outlet right ventricle | Double outlet right ventricle (DORV) is a clinically significant congenital heart defect. DORV is a condition in which the aorta rises from the right ventricle and is associated with ventricular septal ... | Cardiovascular disease |
NKX2-5 [HSA:1482] [KO:K09345] CFC1 [HSA:55997] [KO:K25454] GDF1 [HSA:2657] [KO:K05495] |
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| H00948 | Renal hypouricemia | ... characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Renal urate reabsorption is controlled via two proximal tubular urate transporters: ... | Urinary system disease |
(RHUC1) SLC22A12 [HSA:116085] [KO:K08208] (RHUC2) SLC2A9 [HSA:56606] [KO:K08146] |
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| H00958 |
Congenital stromal corneal dystrophy Congenital hereditary stromal dystrophy Witschel dystrophy |
... decrease the visual acuity. In CSCD, the morphologic abnormalities include a peculiar arrangement of tightly packed lamellae having highly aligned collagen fibrils of an unusually small diameter. Refractive ... | Nervous system disease | DCN [HSA:1634] [KO:K04660] | |
| H00960 |
Fuchs corneal dystrophy Fuchs endothelial corneal dystrophy |
... in the fourth and fifth decades of life. Corneal transplantation is currently the only modality used to restore vision. FECD is a genetically complex disorder, but the familial risk is relatively high. | Nervous system disease |
(FECD1) COL8A2 [HSA:1296] [KO:K23455] (FECD3) TCF4 [HSA:6925] [KO:K15603] (FECD4) SLC4A11 [HSA:83959] [KO:K13862] (FECD6) ZEB1 [HSA:6935] [KO:K09299] (FECD8) AGBL1 [HSA:123624] [KO:K23436] |
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| H00965 | RAPADILINO syndrome | ... an abbreviation of its hallmark features: radial hypo-/aplasia, patellae hypo-/aplasia and cleft or highly arched palate, diarrhoea and dislocated joints, little size and limb malformation, nose slender ... | Congenital malformation | RECQL4 [HSA:9401] [KO:K10730] | |
| H01004 | Velocardiofacial syndrome | ... neural crest cells. Individuals with VCFS are reported to have distinctive dysmorphology, congenital heart disease, learning disabilities, and high rates of psychiatric disorder, especially schizophrenia. | Chromosomal abnormality |
TBX1 [HSA:6899] [KO:K10175] DGCR2 [HSA:9993] DGCR6 [HSA:8214] DGCR8 [HSA:54487] [KO:K18419] ESS2 [HSA:8220] [KO:K13118] |
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| H01006 | Hereditary angioedema | ... 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 with high estrogen levels. | 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] |
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| H01013 | Adult i phenotype | Adult i phenotype is a rare autosomal recessive condition that was found to be highly associated with congenital cataract. The I and i antigens are carbohydrate structures on glycoproteins and glycolipids ... | Hematologic disease | GCNT2 [HSA:2651] [KO:K00742] | |
| H01014 | Sparganosis | ... flesh in traditional poultices. Sparganosis has been reported sporadically around the world, and a higher prevalence of the disease occurs in several Asian countries. Spargana invade the brain, eyes, spinal ... | Parasitic infectious disease | ||
| H01019 | Catecholaminergic polymorphic ventricular tachycardia | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a highly lethal form of inherited primary electrical myocardial disease characterized by exercise- and stress-related adrenergic ventricular ... | Cardiovascular disease |
(CPVT1) RYR2 [HSA:6262] [KO:K04962] (CPVT2) CASQ2 [HSA:845] [KO:K23445] (CPVT3) TECRL [HSA:253017] [KO:K24219] (CPVT4) CALM1 [HSA:801] [KO:K02183] (CPVT5) TRDN [HSA:10345] [KO:K23449] (CPVT6) CALM3 [HSA:808] [KO:K02183] |
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| H01022 | Diseases of the tricarboxylic acid cycle | ... mitochondrial complex II, which links the TCA cycle with the electron transport chain. The phenotype is highly variable and can include Leigh syndrome, leukodystrophy, cardiomyopathy and mental and motor skill ... | Inherited metabolic disorder |
(FMRD) FH [HSA:2271] [KO:K01679] (MC2DN1) SDHA [HSA:6389] [KO:K00234] (OGDHD) OGDH [HSA:4967] [KO:K00164] |
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| H01029 | Cornea plana congenita | ... the normal protrusion of the cornea from the sclera is missing. Clinical features include hyperopia, slight microcornea, an extended limbus zone, and arcus lipoides seen even before the age of 20. Cornea ... | Congenital malformation | (CNA2) KERA [HSA:11081] [KO:K08123] | |
| H01031 |
Orthostatic intolerance Postural tachycardia syndrome |
... disorder of the autonomic nervous system primarily affecting young females, and is characterized by lightheadedness, palpitations, fatigue, altered mentation, and syncope primarily occurring with upright ... | Cardiovascular disease | SLC6A2 [HSA:6530] [KO:K05035] | |
| H01035 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia | ... syndrome is a condition with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum. This syndrome ... | Congenital malformation | IGBP1 (5-prime region) [HSA:3476] [KO:K17606] | |
| H01052 | Molluscum contagiosum | Molluscum contagiosum is a highly contagious poxvirus infection of the mucous membranes and skin that usually affects school-aged children. The infection is transmitted by close physical contact, fomites ... | Viral infectious disease |
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