Search Result

 Top
441 to 468 of 468 Prev 1 ... 7 8 9 10 11 12
Entry Name Description Category Pathway Gene
H02483 Basel-Vanagaite-Smirin-Yosef syndrome ... (BVSYS) is a syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability. It has been reported that mutations in ... Congenital malformation MED25 [HSA:81857] [KO:K15168]
H02484 X-linked reticulate pigmentary disorder with systemic manifestations X-linked reticulate pigmentary disorder with systemic manifestations (XLPDR), previously known as X-linked cutaneous amyloidosis, is a rare syndrome characterized by recurrent infections and sterile multiorgan ... Immune system disease POLA1 [HSA:5422] [KO:K02320]
H02493 Al Kaissi syndrome Al Kaissi syndrome (ALKAS) is an autosomal recessive syndrome characterized by growth retardation, spine malformation, facial dysmorphism, and developmental delay. It has been reported that affected individuals ... Congenital malformation CDK10 [HSA:8558] [KO:K02449]
H02497 Smith-McCort dysplasia ... which encodes the Golgi protein DYMECLIN. Recently, a missense mutation in RAB33B has been identified in a SMC family. RAB33B is another Golgi protein involved in retrograde transport of Golgi vesicles. Congenital malformation (SMC1) DYM [HSA:54808] [KO:K23951]
(SMC2) RAB33B [HSA:83452] [KO:K07920]
H02510 Jaberi-Elahi syndrome ... recessive neurodevelopmental disorder characterized by dystonia, ataxia, cognitive dysfunction, motor neuropathy, and retinal abnormalities. It has been reported that mutations in GTPBP2 cause this syndrome. Nervous system disease GTPBP2 [HSA:54676] [KO:K24888]
H02520 Phosphoenolpyruvate carboxykinase deficiency ... presenting with recurrent hypoglycemia, hepatic dysfunction, and lactic acidosis. There are two discrete subcellular isoforms of phosphoenolpyruvate carboxykinase (PCK): cytosolic PCK (encoded by PCK1) ... Inherited metabolic disorder (PCKDC) PCK1 [HSA:5105] [KO:K01596]
(PCKDM) PCK2 [HSA:5106] [KO:K01596]
H02542 Acute promyelocytic leukemia ... chromosomes 15 and 17, which results in the fusion between the promyelocytic leukemia (PML) gene and retinoic acid receptor alpha (RARA). The majority of APL patients present with the classic PML-RARA translocation ... Cancer PML-RARA (translocation) [HSA:5371 5914] [KO:K10054 K08527]
PLZF-RARA (translocation) [HSA:7704] [KO:K10055]
NUMA1-RARA (translocation) [HSA:4926] [KO:K16808]
H02548 CIMDAG syndrome ... impaired intellectual development, congenital microcephaly, dystonia, dyserythropoietic anemia, and growth retardation. CIMDAG syndrome is caused by mutations in VPS4A, a critical enzyme regulating ESCRT function Congenital malformation VPS4A [HSA:27183] [KO:K12196]
H02559 Microvascular complications of diabetes ... pathologic and functional changes in many tissues, including eye, heart, kidney, skin, and neuronal tissues. These changes are traditionally known as diabetic retinopathy, nephropathy, and neuropathy. Endocrine and metabolic disease (MVCD1) VEGFA [HSA:7422] [KO:K05448]
(MVCD2) EPO [HSA:2056] [KO:K05437]
(MVCD3) ACE [HSA:1636] [KO:K01283]
(MVCD4) IL1RN [HSA:3557] [KO:K05481]
(MVCD5) PON1 [HSA:5444] [KO:K01045]
(MVCD6) SOD2 [HSA:6648] [KO:K04564]
(MVCD7) HFE [HSA:3077] [KO:K26535]
H02570 Cerebro-oculo-facio-skeletal syndrome Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder with microcephaly, severe mental retardation, and death in childhood. COFS can result from mutations in ERCC1, ERCC2, ERCC5 and ERCC6 Congenital malformation (COFS1) ERCC6 [HSA:2074] [KO:K10841]
(COFS2) ERCC2 [HSA:2068] [KO:K10844]
(COFS3) ERCC5 [HSA:2073] [KO:K10846]
(COFS4) ERCC1 [HSA:2067] [KO:K10849]
H02597 Sepiapterin reductase deficiency ... disease resulting in monoamine neurotransmitter depletion. Patients exhibit progressive psychomotor retardation, dystonia, dopamine and serotonin deficiencies. Mutations in the SPR gene have been reported ... Inherited metabolic disorder SPR [HSA:6697] [KO:K00072]
H02605 Congenital pulmonary venous stenosis ... hypertension, potentially cardiac failure, and death. Clinical signs of the disease include failure to thrive, dyspnea, hemoptysis, recurrent respiratory tract infections, cyanosis, and subcostal retractions. Congenital malformation
H02609 Craniodiaphyseal dysplasia ... of the center of the face, hypertelorism, a small upturned tip of the nose, prominent jaw, and open mouth. Mutations preventing the secretion of SOST have been identified as being responsible for CDD. Musculoskeletal disease SOST [HSA:50964] [KO:K16834]
H02638 Zaki syndrome ... including microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects. Mutations in WLS which encodes the Wnt ligand secretion mediator have been identified. Congenital malformation WLS [HSA:79971] [KO:K27258]
H02642 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Retinal arterial macroaneurysm associated with supravalvular pulmonic stenosis (RAMSVPS) is a rare autosomal recessive condition caused by a splicing mutation in IGFBP7. Recently, two major biological ... Nervous system disease IGFBP7 [HSA:3490] [KO:K23580]
H02647 Macrodactyly Macrodactyly is a discrete congenital anomaly consisting of enlargement of all tissues localized to the terminal portions of a limb. Macrodactyly is attributed to a somatic mutation in PIK3CA, a component ... Congenital malformation PIK3CA [HSA:5290] [KO:K00922]
H02654 Boudin-Mortier syndrome ... tissue abnormalities, including aortic dilatation and joint hypermobility. It has been reported that mutations in NPR3 cause this disease. NPR3 encodes the atrial natriuretic peptide clearance receptor. Congenital malformation NPR3 [HSA:4883] [KO:K12325]
H02655 Retinal dystrophy and microvillus inclusion disease Retinal dystrophy and microvillus inclusion disease (RDMVID) is a novel syndrome characterized by early-onset severe retinal dystrophy and hereditary diarrhea. It has been reported that mutations in the ... Congenital malformation STX3 [HSA:6809] [KO:K08486]
H02665 Reticulate acropigmentation of Kitamura Reticulate acropigmentation of Kitamura (RAK) is a rare autosomal dominant disorder of cutaneous pigmentation. The typical clinical features are reticulate and sharply demarcated brown macules, affecting ... Skin disease ADAM10 [HSA:102] [KO:K06704]
H02679 Miura-type epiphyseal chondrodysplasia ... scoliosis, coxa valga, and slipped capital femoral epiphysis. The disease is caused by heterozygous mutation in the NPR2 gene on chromosome 9p13 and relates to defective natriuretic peptide signaling pathway. Congenital malformation NPR2 [HSA:4882] [KO:K12324]
H02689 Retinal dystrophy with leukodystrophy Retinal dystrophy with leukodystrophy (RDLKD) is a defect in peroxisomal very long-chain fatty acid metabolism. It has been reported that mutations in ACBD5 cause this disease. ACBD5 encodes a peroxisomal ... Inherited metabolic disorder ACBD5 [HSA:91452] [KO:K27288]
H02708 Baralle-Macken syndrome ... COPB1 encodes the beta-subunit of coat protein complex 1 (COPI), that is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum. Congenital malformation COPB1 [HSA:1315] [KO:K17301]
H02726 Kaya-Barakat-Masson syndrome ... that mutations in YIF1B cause this syndrome. YIF1B encodes a trafficking protein involved in anterograde traffic from the endoplasmic reticulum to the cell membrane, and in Golgi apparatus morphology. Congenital malformation YIF1B [HSA:90522] [KO:K20362]
H02729 Ain-Naz type of dysostosis multiplex ... key regulator of the M6P pathway. LYSET is a Golgi-localized transmembrane protein important for the retention of the GNPT complex in the Golgi apparatus. GNPT is the enzyme that catalyzes the transfer ... Congenital malformation LYSET [HSA:26175] [KO:K26747]
H02750 Glutathionuria ... GGT1. Most patients presented involvement of the central nervous system in the form of moderate mental retardation, behavioral disturbance, and seizures. GGT1 encodes gamma-glutamyltransferase, the enzyme ... Inherited metabolic disorder GGT1 [HSA:2678] [KO:K18592]
H02754 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate ... condition caused by mutations in SLC13A3. Patients exhibit a reversible leukoencephalopathy and urinary excretion alpha-ketoglutarate that was markedly increased and persisted over time. SLC13A3 encodes a plasma ... Inherited metabolic disorder SLC13A3 [HSA:64849] [KO:K14445]
H02764 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) is a newly described disease caused by mutations in EXOSC2. Patients exhibit childhood myopia, early onset retinitis pigmentosa ... Congenital malformation EXOSC2 [HSA:23404] [KO:K03679]
H02766 Radiohumeral fusions with other skeletal and craniofacial anomalies ... skeletal anomalies. It has been reported that mutations in CYP26B1 cause this syndrome. CYP26B1 encodes the retinoic acid-degrading enzyme. Retinoic acid is well-known to play roles in vertebrate limb development ... Congenital malformation CYP26B1 [HSA:56603] [KO:K12664]
441 to 468 of 468 Prev 1 ... 7 8 9 10 11 12
[ KEGG | DISEASE | DRUG | MEDICUS ]