Search Result

 Top
161 to 200 of 634 Prev 1 2 3 4 5 6 7 8 9 10 ... 16 Next
Entry Name Description Category Pathway Gene
H00792 Warburg micro syndrome ... microcornea, cataracts, hypotonic diplegia and hypothalamic hypogonadism. The neurological manifestations including corpus callosum hypoplasia, cortical dystrophy, and microphthalmia are severe in Warburg micro ... Congenital malformation (WARBM1) RAB3GAP1 [HSA:22930] [KO:K18270]
(WARBM2) RAB3GAP2 [HSA:25782] [KO:K19937]
(WARBM3) RAB18 [HSA:22931] [KO:K07910]
(WARBM4) TBC1D20 [HSA:128637] [KO:K20372]
H00799 CEDNIK syndrome
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 		... shows severe developmental failure of the nervous system and the epidermis. Clinical manifestations include microcephaly, cerebral dysgenesis, facial dysmorphism, palmoplantar keratoderma, and ichthyosis ... Congenital malformation SNAP29 [HSA:9342] [KO:K08509]
H00805 Vitreoretinal degeneration ... as optically empty vitreous, course fibrils, and membranes, and retinal detachment. These diseases include Stickler syndrome types I (STL1) and II (STL2), caused by mutations in COL2A1 and COL11A1 respectively ... Nervous system disease (STL1) COL2A1 [HSA:1280] [KO:K19719]
(STL2) COL11A1 [HSA:1301] [KO:K19721]
(SVD) KCNJ13 [HSA:3769] [KO:K05006]
(WGVRP) VCAN [HSA:1462] [KO:K06793]
(KNO1) COL18A1 [HSA:80781] [KO:K06823]
(ESCS) NR2E3 [HSA:10002] [KO:K08546]
(VRCP) BEST1 [HSA:7439] [KO:K13878]
H00810 Progressive myoclonic epilepsy ... and epilepsy, usually associated with neurodegeneration, and eventual dementia and early death. PME include Lafora disease, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis ... Nervous system disease (EPM1A) CSTB [HSA:1476] [KO:K13907]
(EPM1B) PRICKLE1 [HSA:144165] [KO:K04511]
(EPM2A) EPM2A [HSA:7957] [KO:K14165]
(EPM2B) NHLRC1 [HSA:378884] [KO:K10602]
(EPM3) KCTD7 [HSA:154881] [KO:K21917]
(EPM4) SCARB2 [HSA:950] [KO:K12384]
(EPM6) GOSR2 [HSA:9570] [KO:K08496]
(EPM7) KCNC1 [HSA:3746] [KO:K04887]
(EPM8) CERS1 [HSA:10715] [KO:K04710]
(EPM9) LMNB2 [HSA:84823] [KO:K07611]
(EPM10) PRDM8 [HSA:56978] [KO:K20797]
(EPM11) SEMA6B [HSA:10501] [KO:K06842]
(EPM12) SLC7A6OS [HSA:84138]
H00817 Branchiooculofacial syndrome ... conductive hearing loss. Branchial skin lesions covering branchial remnants are noted. Ocular anomalies and characteristic facial appearance including cleft lip/cleft palate together constitute the disease. Congenital malformation TFAP2A [HSA:7020] [KO:K09176]
H00819 Stargardt disease
Fundus flavimaculatus 		... Histopathologically, eyes with STGD reveal abnormal accumulations of lipofuscin in the RPE. To date, mutations in four genes have been identified as causing STGD, including ABCA4, ELOVL4, PROM1, and CNGB3. Nervous system disease (STGD1) ABCA4 [HSA:24] [KO:K05644]
(STGD3) ELOVL4 [HSA:6785] [KO:K10249]
(STGD4) PROM1 [HSA:8842] [KO:K06532]
H00822 Renal hypodysplasia and aplasia ... aplasia (RHDA) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have ... Congenital malformation (RHDA1) ITGA8 [HSA:8516] [KO:K06584]
(RHDA2) FGF20 [HSA:26281] [KO:K04358]
(RHDA3) GREB1L [HSA:80000] [KO:K27478]
(RHDA4) GFRA1 [HSA:2674] [KO:K19895]
H00825 Familial flecked retina syndrome ... retina of Kandori. Doyne honeycomb degeneration of retina (DHRD) and Basal laminar drusen (BLD) are included in familial drusen. However, there are far more diseases with fleck-like deposits in the retina ... Nervous system disease (DHRD) EFEMP1 [HSA:2202] [KO:K18262]
(BLD) CFH [HSA:3075] [KO:K04004]
(FA) RDH5 [HSA:5959] [KO:K00061]
(RPA) RLBP1 [HSA:6017] [KO:K19625]
(RPA) RHO [HSA:6010] [KO:K04250]
(BCD) CYP4V2 [HSA:285440] [KO:K07427]
H00827 Brooke-Spiegler syndrome ... disease characterized by multiple tumors of tissues derived from folliculo-sebaceous-apocrine unit, including cylindromas, trichoepitheliomas, and/or spiradenomas. It is an autosomal dominant condition. Neoplasm CYLD [HSA:1540] [KO:K08601]
H00835 Succinic semialdehyde dehydrogenase deficiency
4-Hydroxybutyric aciduria 		... 4-hydroxybutyric aciduria (4-HBA), is an autosomal recessive inborn error of metabolism. Clinical features include intellectual disability with prominent deficits in expressive language, hypotonia, nonprogressive ... Inherited metabolic disorder (SSADHD) ALDH5A1 [HSA:7915] [KO:K00139]
H00843 Hartnup disorder ... recessive defect of neutral amino acid transport in kidney and intestine accompanied by the symptoms including pellagra-like photo-sensitive skin rash, cerebellar ataxia, and renal aminoaciduria. It is caused ... Inherited metabolic disorder SLC6A19 [HSA:340024] [KO:K05334]
H00846 Fuhrmann syndrome
Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 		... disorder with various degrees of limb aplasia/hypoplasia and joint dysplasia. Major manifestations include hypoplasia of the pelvis, aplasia or hypoplasia of fibulae, severe bowing of femora, absence of ... Congenital malformation WNT7A [HSA:7476] [KO:K00572]
H00848 Ataxia with ocular apraxia ... recessive cerebellar ataxias mainly characterized by ataxia, oculomotor apraxia and choreoathetosis. AOA includes ataxia telangiectasia (AT), ataxia telangiectasia like disorder (ATLD), ataxia oculomotor apraxia ... Nervous system disease (AOA1) APTX [HSA:54840] [KO:K10863]
(AOA2) SETX [HSA:23064] [KO:K10706]
(AOA3) PIK3R5 [HSA:23533] [KO:K21290]
(AOA4) PNKP [HSA:11284] [KO:K08073]
H00849 Cerebral creatine deficiency syndrome Cerebral creatine deficiency syndrome (CCDS) is a group of inborn errors of creatine metabolism, that includes X-linked creatine deficiency syndrome (CCDS1), guanidinoacetate methyltransferase deficiency (CCDS2) ... Inherited metabolic disorder (CCDS1) SLC6A8 [HSA:6535] [KO:K05041]
(CCDS2) GAMT [HSA:2593] [KO:K00542]
(CCDS3) GATM [HSA:2628] [KO:K00613]
H00860 Benign hereditary chorea ... chorea in conjunction with hypothyroidism and respiratory problems. Features supporting this diagnosis include normal general examination with no dysmorphic features, broadly normal intellectual development ... Nervous system disease TTF1 [HSA:7270] [KO:K15225]
H00873 Cousin syndrome
Pelviscapular dysplasia 		... and pelvic hypoplasia along with epiphyseal abnormalities, congenital dwarfism, and facial dysmorphy including cranial, cervical, and auricular malformations. Cousin syndrome is linked to TBX15 insufficiency Congenital malformation TBX15 [HSA:6913] [KO:K10182]
H00879 Perry syndrome ... severe weight loss and hypoventilation. At a molecular level, Perry syndrome is characterized by TDP-43 inclusions indicating a pathological overlap with amyotrophic lateral sclerosis (ALS) and some forms of ... Neurodegenerative disease DCTN1 [HSA:1639] [KO:K04648]
H00881 Li-Fraumeni syndrome Li-Fraumeni syndrome (LFS) is a familial clustering of early onset tumors including sarcomas, breast cancers, brain tumors and adrenocortical carcinomas (ADR). Initially considered as a rare syndrome, ... Neoplasm (LFS) TP53 [HSA:7157] [KO:K04451]
(LFS2) CHEK2 [HSA:11200] [KO:K06641]
H00885 Hypomelanosis of Ito
Pigmentary mosaicism 		... the eye, and skeletal system. The hypomelanotic lesions are present at birth or usually appear in the first year of life. Hypomelanosis of Ito includes many different states of chromosomal mosaicism. Skin disease chromosomal mosaicism
H00897 Pontocerebellar hypoplasia ... onset. Up to now ten different subtypes have been reported. All subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons, progressive microcephaly, and variable cerebral involvement ... Congenital malformation (PCH1A) VRK1 [HSA:7443] [KO:K08816]
(PCH1B) EXOSC3 [HSA:51010] [KO:K03681]
(PCH1C) EXOSC8 [HSA:11340] [KO:K12586]
(PCH1D) EXOSC9 [HSA:5393] [KO:K03678]
(PCH1E) SLC25A46 [HSA:91137] [KO:K03454]
(PCH1F) EXOSC1 [HSA:51013] [KO:K07573]
(PCH2A/4/5) TSEN54 [HSA:283989] [KO:K15326]
(PCH2B) TSEN2 [HSA:80746] [KO:K15322]
(PCH2C) TSEN34 [HSA:79042] [KO:K15323]
(PCH2D) SEPSECS [HSA:51091] [KO:K03341]
(PCH2E) VPS53 [HSA:55275] [KO:K20299]
(PCH2F) TSEN15 [HSA:116461] [KO:K15324]
(PCH3) PCLO [HSA:27445] [KO:K16882]
(PCH6) RARS2 [HSA:57038] [KO:K01887]
(PCH7) TOE1 [HSA:114034] [KO:K13202]
(PCH8) CHMP1A [HSA:5119] [KO:K12197]
(PCH9) AMPD2 [HSA:271] [KO:K01490]
(PCH10) CLP1 [HSA:10978] [KO:K14399]
(PCH11) TBC1D23 [HSA:55773] [KO:K22555]
(PCH12) COASY [HSA:80347] [KO:K02318]
(PCH13) VPS51 [HSA:738] [KO:K20296]
(PCH14) PPIL1 [HSA:51645] [KO:K12733]
(PCH15) CDC40 [HSA:51362] [KO:K12816]
(PCH16) MINPP1 [HSA:9562] [KO:K03103]
(PCH17) PRDM13 [HSA:59336] [KO:K24645]
H00898 Myopathy with lactic acidosis and sideroblastic anaemia
Mitochondrial myopathy and sideroblastic anemia
Hereditary myopathy with lactic acidosis (HML) 		... aconitase deficiency has been found to be caused by mutations in the gene encoding the iron-sulphur cluster scaffold protein (ISCU). ISCU is essential for the activity of mitochondrial iron-sulphur proteins ... Inherited metabolic disorder (MLASA1) PUS1 [HSA:80324] [KO:K06173]
(MLASA2) YARS2 [HSA:51067] [KO:K01866]
(HML) ISCU [HSA:23479] [KO:K22068]
H00899 Lysinuric protein intolerance ... disorder, in general, come to medical attention from early on in life with several significant problems including failure to thrive and intellectual impairment. LPI is caused by mutations in the SLC7A7 gene ... Inherited metabolic disorder SLC7A7 [HSA:9056] [KO:K13867]
H00903 Congenital clubfoot
Congenital talipes equinovarus 		Congenital clubfoot is an idiopathic deformity of the lower limb that consists of malalignment of the bones and joints of the foot and ankle. It is defined as a fixation of the foot in a hand-like orientation ... Congenital malformation PITX1 [HSA:5307] [KO:K09356]
H00908 Mowat-Wilson syndrome ... distinct facial phenotype, intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies, congenital heart defects, agenesis of the corpus ... Congenital malformation ZEB2 [HSA:9839] [KO:K23560]
H00910 Hirschsprung disease ... several genes have been identified to be associated with HSCR. The functions of the gene products include transcription factors regulating gene expression in neural crest cells and in participants in signaling ... Congenital malformation (HSCR1) RET [HSA:5979] [KO:K05126]
(HSCR2) EDNRB [HSA:1910] [KO:K04198]
(HSCR3) GDNF [HSA:2668] [KO:K05452]
(HSCR4) EDN3 [HSA:1908] [KO:K05227]
(HCAD) ECE1 [HSA:1889] [KO:K01415]
H00915 Tuberous sclerosis complex
Bourneville-Pringle disease 		... slowly progressive genetic disorder characterized by pervasive benign tumors in most organ systems including the brain, skin, kidney, liver, lung, and heart, which is inherited in an autosomal dominant ... Congenital malformation (TSC1) TSC1 [HSA:7248] [KO:K07206]
(TSC2) TSC2 [HSA:7249] [KO:K07207]
H00917 Congenital dyserythropoietic anemia ... are morphologically normal. Three types of the disease are known as type I, II and III, and there is also a huge group of congenital forms that cannot be included with any of the three canonical types. Hematologic disease (CDAIA) CDAN1 [HSA:146059] [KO:K19531]
(CDAIB) CDIN1 [HSA:84529] [KO:K24865]
(CDAII) SEC23B [HSA:10483] [KO:K14006]
(CDAIIIA) KIF23 [HSA:9493] [KO:K17387]
(CDAIIIB) RACGAP1 [HSA:29127] [KO:K16733]
(CDAIV) KLF1 [HSA:10661] [KO:K09204]
H00936 Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen syndrome (GOSHS) 		... is characterized by central and enteric nervous system defects. Clinical features of this syndrome include polymicrogyria, mild mental retardation, microcephaly, facial dysmorphisms, and short-segment Hirschsprung ... Congenital malformation KBP [HSA:26128] [KO:K23845]
H00940 Cohen syndrome Cohen syndrome is an autosomal recessive disorder with a broad phenotypic spectrum. Essential symptoms include mental retardation, progressive postnatal microcephaly, typical facial anomalies, ophthalmologic ... Congenital malformation COH1 [HSA:157680] [KO:K19526]
H00942 Rabson-Mendenhall syndrome ... extreme hyperinsulinemia and profound insulin-resistance diabetes. Additional characteristics of RMS can include acanthosis nigricans, polycystic ovarian disease, hirsutism, precocity, pineal hyperplasia, and ... Endocrine and metabolic disease INSR [HSA:3643] [KO:K04527]
H00944 Dowling-Degos disease ... mutations in keratin 5 and protein O-fucosyltransferase 1. Small hyperpigmented macules appear in a clustered or reticulated pattern at flexural sites, such as the neck, axilla, and antecubital fossa. ... Skin disease (DDD1) KRT5 [HSA:3852] [KO:K07605]
(DDD2) POFUT1 [HSA:23509] [KO:K03691]
(DDD4) POGLUT1 [HSA:56983] [KO:K13667]
H00953 Gelatinous drop-like corneal dystrophy
Corneal amyloidosis 		... mulberry-shaped nodules formed beneath the corneal epithelium during the first decade of life. Clinical symptoms include photophobia, foreign body sensation, and decreased vision. Fusiform deposits similar to those in ... Nervous system disease TACSTD2 [HSA:4070] [KO:K17288]
H00956 Lattice corneal dystrophies ... corneal dystrophies, is an autosomal dominant dystrophy with variable expression. Clinical findings include the presence of a linear network of subepithelial opacities (lattice lines). LCD associated with ... Nervous system disease TGFBI [HSA:7045] [KO:K19519]
H00958 Congenital stromal corneal dystrophy
Congenital hereditary stromal dystrophy
Witschel dystrophy 		... age and are slowly progressive to decrease the visual acuity. In CSCD, the morphologic abnormalities include a peculiar arrangement of tightly packed lamellae having highly aligned collagen fibrils of an ... Nervous system disease DCN [HSA:1634] [KO:K04660]
H00962 RIDDLE syndrome ... BRCA1, to sites of DNA damage. As with patients with other DSB repair disorders, the RIDDLE patients also present with nonimmunological characteristics including short stature and motor control problems. Immune system disease RNF168 [HSA:165918] [KO:K20779]
H00964 Poor metabolism of thiopurines ... TPMT gene. TPMT is part of a cascade of enzymes responsible for the metabolism of thiopurine drugs including azathioprine, mercaptopurine, and thioguanine. Recent studies identified germline NUDT15 variation ... Inherited metabolic disorder (THPM1) TPMT [HSA:7172] [KO:K00569]
(THPM2) NUDT15 [HSA:55270] [KO:K03574]
H00967 Adiponectin deficiency ... adipocyte-derived protein with insulin-sensitizing, anti-inflammatory and anti-atherogenic properties. Adiponectin deficiency (ADPOD) related to several obesity related malignancies including colorectal cancer. Inherited metabolic disorder ADIPOQ [HSA:9370] [KO:K07296]
H00968 Raine syndrome
Lethal osteosclerotic bone dysplasia 		... density of all bones and the basal structures of the skull, which leads to the characteristic facial features including microcephaly, proptosis, hypoplastic nose and midface, small jaw, and cleft palate. Congenital malformation FAM20C [HSA:56975] [KO:K21958]
H00969 Skeletal defects, genital hypoplasia, and mental retardation ... craniofacial dysmorphism, disproportionate short stature, and genital hypoplasia. Skeletal dysplasia includes absence of the thumbs, hypoplasia of the radius and ulna, and additional vertebral bodies and ... Congenital malformation ZBTB16 [HSA:7704] [KO:K10055]
H00977 Trichorhinophalangeal syndrome ... philtrum, thin upper lip, and protruding ears. Skeletal abnormalities that are frequently observed include epiphyses of the middle phalanges with shortened metacarpals, hip malformations, and short stature ... Congenital malformation (TRPS1_2_3) TRPS1 [HSA:7227] [KO:K22040]
(TRPS2) EXT1 [HSA:2131] [KO:K02366]
161 to 200 of 634 Prev 1 2 3 4 5 6 7 8 9 10 ... 16 Next
[ KEGG | DISEASE | DRUG | MEDICUS ]