Search Result

 Top
81 to 112 of 112 Prev 1 2 3
Entry Name Description Category Pathway Gene
H01887 3MC syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome 		3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. Patients with 3MC syndrome may exhibit a spectrum of developmental features, including ... Congenital malformation (3MC1) MASP1 [HSA:5648] [KO:K03992]
(3MC2) COLEC11 [HSA:78989] [KO:K10066]
(3MC3) COLEC10 [HSA:10584] [KO:K10065]
H01925 Transient neonatal zinc deficiency ... zinc deficiency (TNZD) is a disorder caused by loss-of-function mutations of the zinc transporter SLC30A2/ZnT2 gene, which results in low zinc breast milk in the mother, consequently causing zinc deficiency ... Inherited metabolic disorder SLC30A2 [HSA:7780] [KO:K14689]
H01938 Hypermanganesemia with dystonia ... (HMNDYT) is an autosomal recessive disorder of manganese (Mn) homeostasis. Loss-of-function mutations in SLC30A10, a Mn efflux transporter, or SLC39A14, a Mn influx transporter, increase Mn levels in blood and ... Hematologic disease (HMNDYT1) SLC30A10 [HSA:55532] [KO:K14697]
(HMNDYT2) SLC39A14 [HSA:23516] [KO:K14720]
H01939 Glycogen storage disease type I
Von Gierke disease 		Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is an autosomal recessive disorder caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four ... Inherited metabolic disorder (GSD Ia) G6PC [HSA:2538] [KO:K01084]
(GSD Ib/Ic/Id) SLC37A4 [HSA:2542] [KO:K08171]
H01959 Muscular dystrophy-dystroglycanopathy type C Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... Inherited metabolic disorder (MDDGC1) POMT1 [HSA:10585] [KO:K00728]
(MDDGC2) POMT2 [HSA:29954] [KO:K00728]
(MDDGC3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGC4) FKTN [HSA:2218] [KO:K19872]
(MDDGC5) FKRP [HSA:79147] [KO:K19873]
(MDDGC7) CRPPA [HSA:729920] [KO:K21031]
(MDDGC8) POMGNT2 [HSA:84892] [KO:K18207]
(MDDGC9) DAG1 [HSA:1605] [KO:K06265]
(MDDGC12) POMK [HSA:84197] [KO:K17547]
(MDDGC14) GMPPB [HSA:29925] [KO:K00966]
(MDDGC15) DPM3 [HSA:54344] [KO:K09659]
H02026 Familial hypocalciuric hypercalcemia ... to loss-of-function mutations of the calcium-sensing receptor. HHC2 is due to mutations in GNA11. HHC3 is associated with AP2S1 mutations, which result in altered calcium-sensing receptor endocytosis. Inherited metabolic disorder (HHC1) CASR [HSA:846] [KO:K04612]
(HHC2) GNA11 [HSA:2767] [KO:K04635]
(HHC3) AP2S1 [HSA:1175] [KO:K11827]
H02035 Isolated growth hormone deficiency Isolated growth hormone deficiency (IGHD) is conditions associated with childhood growth failure due to lack of growth hormone (GH) action, and not necessarily associated with other pituitary hormone deficiencies ... Endocrine and metabolic disease (IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438]
(IGHD3) BTK [HSA:695] [KO:K07370]
(IGHD4) GHRHR [HSA:2692] [KO:K04584]
(IGHD5) RNPC3 [HSA:55599] [KO:K13157]
H02036 Combined pituitary hormone deficiency Combined pituitary hormone deficiency (CPHD) is a rare disorder that is characterized by the impaired production of growth hormone (GH) and one or more other pituitary hormones. Currently reported genes ... Endocrine and metabolic disease (CPHD1) POU1F1 [HSA:5449] [KO:K09363]
(CPHD2) PROP1 [HSA:5626] [KO:K09327]
(CPHD3) LHX3 [HSA:8022] [KO:K09374]
(CPHD4) LHX4 [HSA:89884] [KO:K09374]
(CPHD5) HESX1 [HSA:8820] [KO:K09354]
(CPHD6) OTX2 [HSA:5015] [KO:K18490]
(CPHD7) RNPC3 [HSA:55599] [KO:K13157]
(CPHD8) ROBO1 [HSA:6091] [KO:K06753]
H02041 Myopia Myopia is the most common ocular disorder worldwide, and high myopia in particular is one of the leading causes of blindness. Nonsyndromic, high myopia is highly heritable, and to date a few causative ... Nervous system disease (MYP6) SCO2 [HSA:9997] [KO:K23755]
(MYP21) ZNF644 [HSA:84146] [KO:K24374]
(MYP22) PRIMPOL [HSA:201973] [KO:K22761]
(MYP23) LRPAP1 [HSA:4043] [KO:K22290]
(MYP24) SLC39A5 [HSA:283375] [KO:K14711]
(MYP25) P4HA2 [HSA:8974] [KO:K00472]
(MYP26) ARR3 [HSA:407] [KO:K13801]
(MYP27) CPSF1 [HSA:29894] [KO:K14401]
(MYP28) LOXL3 [HSA:84695] [KO:K00280]
(MCVD) P3H2 [HSA:55214] [KO:K22459]
H02084 Native American myopathy ... North Carolina. NAM features include myopathic facies, susceptibility to malignant hyperthermia, kyphoscoliosis, and cleft palate. The recent study identified a mutation in STAC3 as the cause for NAM. Nervous system disease; Musculoskeletal disease STAC3 [HSA:246329] [KO:K23713]
H02086 Mitochondrial complex III deficiency Mitochondrial complex III deficiency (MC3DN) is a relatively rare devastating disorder that impairs energy generation, and leads to variable symptoms such as developmental regression, seizures, kidney ... Inherited metabolic disorder, Mitochondrial disease (MC3DN1) BCS1L [HSA:617] [KO:K08900]
(MC3DN2) TTC19 [HSA:54902] [KO:K18169]
(MC3DN3) UQCRB [HSA:7381] [KO:K00417]
(MC3DN4) UQCRQ [HSA:27089] [KO:K00418]
(MC3DN5) UQCRC2 [HSA:7385] [KO:K00415]
(MC3DN6) CYC1 [HSA:1537] [KO:K00413]
(MC3DN7) UQCC2 [HSA:84300] [KO:K17682]
(MC3DN8) LYRM7 [HSA:90624] [KO:K18170]
(MC3DN9) UQCC3 [HSA:790955] [KO:K23165]
(MC3DN10) UQCRFS1 [HSA:7386] [KO:K00411]
(MC3DN11) UQCRH [HSA:7388] [KO:K00416]
H02106 Genetic obesity Obesity predisposes to many diseases. It has a very heterogeneous phenotypic expression and the molecular mechanisms involved in its development are diverse. Although environmental factors are important ... Endocrine and metabolic disease NR0B2 [HSA:8431] [KO:K08563]
SDC3 [HSA:9672] [KO:K16337]
POMC [HSA:5443] [KO:K05228]
GHRL [HSA:51738] [KO:K05254]
PPARG [HSA:5468] [KO:K08530]
CARTPT [HSA:9607] [KO:K25453]
PPARGC1B [HSA:133522] [KO:K17962]
ENPP1 [HSA:5167] [KO:K01513]
ADRB2 [HSA:154] [KO:K04142]
ADRB3 [HSA:155] [KO:K04143]
AGRP [HSA:181] [KO:K05231]
UCP1 (polymorphism) [HSA:7350] [KO:K08769]
UCP3 [HSA:7352] [KO:K15103]
(BMIQ4) UCP2 [HSA:7351] [KO:K15103]
(BMIQ9) MC3R [HSA:4159] [KO:K04201]
(BMIQ10) FFAR4 [HSA:338557] [KO:K08425]
(BMIQ11) SLC6A14 [HSA:11254] [KO:K05047]
(BMIQ12) PCSK1 [HSA:5122] [KO:K01359]
(BMIQ14) FTO [HSA:79068] [KO:K19469]
(BMIQ17) AQP7 [HSA:364] [KO:K08771]
(BMIQ18) MRAP2 [HSA:112609] [KO:K25968]
(BMIQ19) ADCY3 [HSA:109] [KO:K08043]
(BMIQ20) MC4R [HSA:4160] [KO:K04202]
H02123 Celiac disease Celiac disease is a chronic gluten intolerance that occurs in genetically predisposed individuals. The ingestion of gluten causes chronic inflammation of the small intestinal mucosa, leading to nutrient ... Digestive system disease (CELIAC1) HLA-DQA1 [HSA:3117] [KO:K06752]
(CELIAC1) HLA-DQB1 [HSA:3119] [KO:K06752]
(CELIAC3) CTLA4 [HSA:1493] [KO:K06538]
(CELIAC4) MYO9B [HSA:4650] [KO:K10360]
H02138 Hereditary hypophophatemic rickets with hypercalciuria ... present with hypercalciuria due to increased serum 1, 25-dihydroxyvitamin D levels and increased intestinal calcium absorption. HHRH is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Inherited metabolic disorder SLC34A3 [HSA:142680] [KO:K14683]
H02199 Congenital heart defects, multiple type Congenital heart defects (CHTD) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. It is generally understood ... Congenital malformation (CHTD1) ZIC3 [HSA:7547] [KO:K18487]
(CHTD2) TAB2 [HSA:23118] [KO:K04404]
(CHTD4) NR2F2 [HSA:7026] [KO:K08548]
(CHTD5) GATA5 [HSA:140628] [KO:K17896]
(CHTD6) GDF1 [HSA:2657] [KO:K05495]
(CHTD7) FLT4 [HSA:2324] [KO:K05097]
(CHTD8) SMAD2 [HSA:4087] [KO:K04500]
(CHTD9) PLXND1 [HSA:23129] [KO:K06822]
H02239 Ehlers-Danlos syndrome, spondylodysplastic type ... is a rare autosomal recessive connective tissue disorder, caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. The majority of EDSSPD patients presented with short stature, skin hyperextensibility ... Congenital malformation (EDSSPD1) B4GALT7 [HSA:11285] [KO:K00733]
(EDSSPD2) B3GALT6 [HSA:126792] [KO:K00734]
(EDSSPD3) SLC39A13 [HSA:91252] [KO:K14719]
H02251 Cerebroretinal microangiopathy with calcifications and cysts
Coats plus syndrome 		Cerebroretinal 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 ... Nervous system disease (CRMCC1) CTC1 [HSA:80169] [KO:K23311]
(CRMCC2) STN1 [HSA:79991] [KO:K23312]
(CRMCC3) POT1 [HSA:25913] [KO:K11109]
H02299 Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by non-progressive joint contractures from birth. There are various etiologies for AMC including genetic and environmental ... Congenital malformation (AMC1) LGI4 [HSA:163175] [KO:K25430]
(AMC2) ERGIC1 [HSA:57222] [KO:K20365]
(AMC3) SYNE1 [HSA:23345] [KO:K19326]
(AMC4) SCYL2 [HSA:55681] [KO:K17541]
(AMC5) TOR1A [HSA:1861] [KO:K22990]
(AMC6) NEB [HSA:4703] [KO:K18267]
H02301 Nephroblastoma
Wilms tumor 		Nephroblastoma, also called Wilms tumor (WT), is the most common renal tumor of childhood. It can present as a single nodule, as multifocal unilateral lesions or as bilateral tumours. Typically, nephroblastoma ... Cancer (WT1) WT1 [HSA:7490] [KO:K09234]
(WT5) POU6F2 [HSA:11281] [KO:K09368]
(WT6) REST [HSA:5978] [KO:K09222]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
BRCA2 [HSA:675] [KO:K08775]
GPC3 [HSA:2719] [KO:K08109]
H02430 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ... diabetes mellitus (ACPHD) is an autosomal recessive disorder caused by loss-of-function mutations in DNAJC3. It encodes ER protein which serves to attenuate late phases of ER stress. ACPHD is characterized ... Nervous system disease DNAJC3 [HSA:5611] [KO:K09523]
H02461 Neurodevelopmental disorder with microcephaly Neurodevelopmental disorder (NED) with microcephaly is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying genetic causes ... Congenital malformation (NEDMEBA) TRAPPC6B [HSA:122553] [KO:K20304]
(NEDMCR) GEMIN4 [HSA:50628] [KO:K13132]
(NDMSBA) PLAA [HSA:9373] [KO:K14018]
(NEDMIBA) DYNC1I2 [HSA:1781] [KO:K10415]
(NEDMABA) SMPD4 [HSA:55627] [KO:K12353]
(NEDAHM) SVBP [HSA:374969] [KO:K23357]
(NEDMCMS) TMX2 [HSA:51075] [KO:K25112]
(NEDMEHM) MTHFS [HSA:10588] [KO:K01934]
(NMIHBA) PRUNE1 [HSA:58497] [KO:K01514]
(NEDHYMS) ADARB1 [HSA:104] [KO:K13194]
(NEDSEBA) EXOC7 [HSA:23265] [KO:K07195]
(NEDMISB) EXOC8 [HSA:149371] [KO:K19986]
(NEDSOSB) SEC31A [HSA:22872] [KO:K14005]
(NEDMSC) VPS50 [HSA:55610] [KO:K23288]
(NEDMHS) CPSF3 [HSA:51692] [KO:K14403]
(NEDMIMS) CHKA [HSA:1119] [KO:K14156]
(NEDMISS) TRAPPC10 [HSA:7109] [KO:K20307]
(NEDMVIC) DOHH [HSA:83475] [KO:K06072]
(NEDSMBA) PPFIBP1 [HSA:8496] [KO:K27096]
(NEDMIM) TTI1 [HSA:9675] [KO:K20403]
(NEDGS) PCDHGC4 [HSA:56098] [KO:K16497]
H02501 Occipital cortical malformation Occipital cortical malformation (OCCM) is an autosomal recessive disorder caused by mutations in LAMC3. OCCM is characterized by thickening and smoothening of the occipital cortex along with polymicrogyria ... Congenital malformation LAMC3 [HSA:10319] [KO:K06247]
H02529 Bone marrow failure syndrome Bone marrow failure syndromes are a heterogeneous group of life-threatening disorders characterized by the inability of the bone marrow to make an adequate number of mature blood cells. Hematologic disease (BMFS1) SRP72 [HSA:6731] [KO:K03108]
(BMFS2) ERCC6L2 [HSA:375748] [KO:K20098]
(BMFS3) DNAJC21 [HSA:134218] [KO:K09506]
(BMFS4) MYSM1 [HSA:114803] [KO:K11865]
(BMFS5) TP53 [HSA:7157] [KO:K04451]
(BMFS6) MDM4 [HSA:4194] [KO:K10127]
(BMFS7) ADH5 [HSA:128] [KO:K00121]
(BMFS8) SLC30A7 [HSA:148867] [KO:K14692]
(BMFDMS) DUT [HSA:1854] [KO:K01520]
H02535 Neurodevelopmental disorder with dysmorphic facies Neurodevelopmental disorder (NED) with dysmorphic facies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies. Several underlying genetic ... Congenital malformation (NEDBAF) RAC3 [HSA:5881] [KO:K07861]
(NEDFACH) EXOC2 [HSA:55770] [KO:K17637]
(NEDDFAC) SUPT16H [HSA:11198] [KO:K25639]
(NEDSID) SETD1A [HSA:9739] [KO:K11422]
(NDCAGF) INTS1 [HSA:26173] [KO:K13138]
(NECRC) ZMYM2 [HSA:7750] [KO:K24675]
(NEDDFAS) EMC10 [HSA:284361] [KO:K23570]
(NEDCAFD) TTC5 [HSA:91875] [KO:K24928]
(NEDFASB) KAT5 [HSA:10524] [KO:K11304]
(ODLURO) KMT2E [HSA:55904] [KO:K09189]
(CFNDS) CCDC32 [HSA:90416] [KO:K27410]
(CPPRDD) LRRC32 [HSA:2615] [KO:K26316]
(HINCONS) RALA [HSA:5898] [KO:K07834]
(ALKUS) SMG8 [HSA:55181] [KO:K18734]
(NEDFLPH) TMEM147 [HSA:10430] [KO:K26498]
(NEDGFAX) TCEAL1 [HSA:9338] [KO:K26769]
(NEDGFC) FRA10AC1 [HSA:118924] [KO:K13121]
(NEDFBA) SRSF1 [HSA:6426] [KO:K12890]
(NEDLBF) UBAP2L [HSA:9898] [KO:K26545]
(NEDGEF) ZNF668 [HSA:79759] [KO:K27106]
(NEDITPO) SMG9 [HSA:56006] [KO:K18735]
(NEDHFDB) WBP4 [HSA:11193] [KO:K13220]
H02550 Birk-Landau-Perez syndrome ... early onset intellectual disability and tubulointerstitial nephropathy. It has been suggested that SLC30A9 mutation affecting intracellular zinc homeostasis causes this disease. SLC30A9 encodes a putative ... Inherited metabolic disorder SLC30A9 [HSA:10463] [KO:K14696]
H02564 Generalized epilepsy with febrile seizures plus Generalized epilepsy with febrile seizures plus (GEFSP) is a familial epilepsy syndrome with a spectrum of phenotypes. Mutations in the voltage-gated cation channel subunit genes and the GABA(A) receptor ... Nervous system disease (GEFSP1) SCN1B [HSA:6324] [KO:K04845]
(GEFSP2) SCN1A [HSA:6323] [KO:K04833]
(GEFSP3) GABRG2 [HSA:2566] [KO:K05186]
(GEFSP5) GABRD [HSA:2563] [KO:K05184]
(GEFSP9) STX1B [HSA:112755] [KO:K08486]
(GEFSP10) HCN1 [HSA:348980] [KO:K04954]
(GEFSP11) HCN2 [HSA:610] [KO:K04955]
(GEFSP12) SLC32A1 [HSA:140679] [KO:K15015]
H02579 C3 glomerulopathy C3 glomerulopathy (C3G) describes a pathologic pattern of injury diagnosed by renal biopsy characterized by the dominant deposition of the third component of complement (C3) in the renal glomerulus. Autoantibodies ... Immune system disease; Urinary system disease (C3G1) CFH [HSA:3075] [KO:K04004]
(C3G2) CFI [HSA:3426] [KO:K01333]
(C3G3) CFHR5 [HSA:81494] [KO:K23817]
H02634 Deafness, cataract, impaired intellectual development, and polyneuropathy ... recessive syndrome with varying degrees of neurosensorial dysfunctions. DCIDP is caused by mutations in PSMC3 gene, encoding the proteasome ATPase subunit Rpt5. The proteasome is a multiprotein complex involved ... Nervous system disease PSMC3 [HSA:5702] [KO:K03065]
H02706 Early-onset dystonia and/or spastic paraplegia Early-onset dystonia and/or spastic paraplegia (DYTSPG) is an autosomal dominant neurological disease caused by mutations in ATP5MC3. ATP5MC3 encodes the c subunit of mitochondrial complex V. Nervous system disease ATP5MC3 [HSA:518] [KO:K02128]
H02714 Tessadori-Bicknell-van Haaften neurodevelopmental syndrome Tessadori-Bicknell-van Haaften neurodevelopmental syndrome (TEBIVANED) is a novel syndrome caused by missense mutations in H4 genes. This syndrome is characterized by intellectual disability, motor and ... Congenital malformation (TEBIVANED1) H4C3 [HSA:8364] [KO:K11254]
(TEBIVANED2) H4C11 [HSA:8363] [KO:K11254]
(TEBIVANED3) H4C5 [HSA:8367] [KO:K11254]
(TEBIVANED4) H4C9 [HSA:8294] [KO:K11254]
H02730 Severe congenital liver disease ... in FOCAD cause this disease. It has been suggested that FOCAD deficiency impairs the SKI mRNA surveillance pathway by reducing levels of the SKIC2 and SKIC3, two important components of the SKI complex. Digestive system disease FOCAD [HSA:54914] [KO:K27498]
H02736 Neurodegeneration and seizures due to copper transport defect ... global developmental delay, seizures and rapid 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 ... Nervous system disease SLC31A1 [HSA:1317] [KO:K14686]
81 to 112 of 112 Prev 1 2 3
[ KEGG | DISEASE | DRUG | MEDICUS ]