Search Result

201 to 240 of 264 Prev 1 2 3 4 5 6 7 Next

Entry	Name	Description	Category	Gene
H01849	Peripheral arteriovenous malformation	... patients may present with an asymptomatic birthmark, while in some patients, the condition may be even life-threatening, leading to congestive heart failure. Typically during puberty or adolescence, the initially ...	Congenital malformation
H01855	Biliary atresia	... only half of the time. Approximately 80% of patients require one or more liver transplantations with the associated morbidity and mortality issues caused by life-long transplant-related immunosuppression.	Congenital malformation
H01864	Excessive secretion of growth hormone	... same pathogenetic mechanism, but differ regarding the age of onset. Gigantism occurs much earlier in life when the skeleton still has the potential to grow, a developmental phase now known as prepubertal ...	Endocrine and metabolic disease	AIP [HSA:9049] [KO:K17767] GPR101 [HSA:83550] [KO:K08423]
H01866	Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis	... initially thought to be idiopathic PAH (IPAH). PCH is histologically characterized by localized capillary proliferation within the lung in which capillaries invade the pulmonary interstitium, vessels and, less ...	Cardiovascular disease	(PVOD1) BMPR2 [HSA:659] [KO:K04671] (PVOD2) EIF2AK4 [HSA:440275] [KO:K16196]
H01869	Megacystis microcolon intestinal hypoperistalsis syndrome	... microcolon and food intolerance. MMIHS usually affects women, and is almost lethal in the first year of life. Although pro-kinetic agents and alimentation have prolonged life in some cases, but the long term ...	Congenital malformation	(MMIHS1) MYLK [HSA:4638] [KO:K00907] (MMIHS2) MYH11 [HSA:4629] [KO:K10352] (MMIHS3) LMOD1 [HSA:25802] [KO:K22030] (MMIHS4) MYL9 [HSA:10398] [KO:K12755] (MMIHS5) ACTG2 [HSA:72] [KO:K12315]
H01883	Nestor-Guillermo progeria syndrome	... normal cognitive development. In contrast to other progeria syndromes, NGPS is associated with a longer lifespan and higher risk for developing severe skeletal abnormalities. Recently, a mutation in the BANF1 ...	Inherited metabolic disorder	BANF1 [HSA:8815] [KO:K21870]
H01895	Attention deficit hyperactivity disorder (ADHD)	... common psychiatric disorder first diagnosed in childhood and frequently persistent throughout adult life. The disorder is classically characterized by symptoms of inattention, impulsivity, and hyperactivity ...	Mental and behavioural disorder	(ADHD) DRD5 [HSA:1816] [KO:K05840] (ADHD) DRD4 [HSA:1815] [KO:K04147] (ADHD7) TPH2 [HSA:121278] [KO:K00502] (ADHD8) CDH2 [HSA:1000] [KO:K06736]
H01906	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	... proximal and distal muscles of all four limbs. Pulmonary involvement are noted during the second decade of life, and progressive dyspnea and restrictive impairment of lung function were linked to pulmonary fibrosis ...	Congenital malformation	FAM111B [HSA:374393] [KO:K24275]
H01907	Acid-labile subunit deficiency	... component of the circulating IGF ternary complex. The main role of ALS is the extension of IGF-I half life by protecting it from degradation and preventing the passage of IGF-I to the extravascular compartment	Endocrine and metabolic disease	IGFALS [HSA:3483] [KO:K17256]
H01918	Familial autosomal recessive hypercholesterolemia	... hypercholesterolemia (FH) [DS:H00155] individuals. ARH patients develop symptomatic coronary artery disease later in life and their xanthomas tend to be large and bulky. In 2001, ARH was found to be caused by mutations ...	Inherited metabolic disorder	LDLRAP1 [HSA:26119] [KO:K12474]
H01919	Proud syndrome	... corpus callosum, and abnormal genitalia. ARX is considered to have an important role in neuronal proliferation, interneuronal migration and differentiation in the embryonic brain, and also in the differentiation ...	Congenital malformation	ARX [HSA:170302] [KO:K09452]
H01920	Partington syndrome	... retardation, including Partington syndrome. ARX is considered to have an important role in neuronal proliferation, interneuronal migration and differentiation in the embryonic brain, and also in the differentiation ...	Nervous system disease	ARX [HSA:170302] [KO:K09452]
H01931	Lethal-type popliteal pterygium syndrome Bartsocas-Papas syndrome (BPS)	... characterised by multiple popliteal pterygia, cutaneous syndactyly, lack of nails, ankyloblepharon, filiform bands between the jaws, hypoplastic external genitalia, cleft lip and/or palate, and fetal or ...	Congenital malformation	(BPS1) RIPK4 [HSA:54101] [KO:K08848] (BPS2) CHUK [HSA:1147] [KO:K04467]
H01963	Duchenne muscular dystrophy	... by mutations in the DMD gene, which codes for dystrophin. Patients suffer from progressive muscle weakness, are wheelchair-bound before the age of 12 and often die before the third decade of their life.	Nervous system disease; Musculoskeletal disease	DMD [HSA:1756] [KO:K10366]
H01969	X-linked lymphoproliferative syndrome Duncan disease	The X-linked lymphoproliferative syndrome (XLP) is a rare, inherited immunodeficiency that is characterized by lymphohystiocytosis, hypogammaglobulinaemia and lymphomas, and that usually develops in response ...	Primary immunodeficiency	(XLP1) SH2D1A [HSA:4068] [KO:K07990] (XLP2) XIAP [HSA:331] [KO:K04725]
H01970	Lymphoproliferative syndrome	Lymphoproliferative syndrome (LPFS) is a severe autosomal recessive lymphoproliferative disease, associated with Epstein-Barr virus. ITK mutations were identified as the cause for this disease. Common ...	Primary immunodeficiency	(LPFS1) ITK [HSA:3702] [KO:K07363] (LPFS2) CD27 [HSA:939] [KO:K05144] (LPFS3) CD70 [HSA:970] [KO:K05470]
H01983	Carnitine-acylcarnitine translocase deficiency	... membrane. It is one of the key enzymes for transporting long-chain fatty acids into mitochondria. CACT deficiency is clinically characterized by life-threatening non-ketotic hypoglycemia and rhabdomyolysis.	Inherited metabolic disorder	SLC25A20 [HSA:788] [KO:K15109]
H02004	Fumarase deficiency Fumaric aciduria	... cycle. Patients usually present early in infancy with a severe encephalopathy, including hypotonia, developmental retardation, and seizures. Many of them have died during the first several years of life.	Inherited metabolic disorder	FH [HSA:2271] [KO:K01679]
H02012	Medullary cystic kidney disease	... identified as causative genes. The timing of the onset of ESKD is during the fifth to sixth decades of life in MCKD1 and about the third decade in MCKD2. Recently, new terminology using the term autosomal ...	Congenital malformation	(MCKD1) MUC1 [HSA:4582] [KO:K06568] (MCKD2) UMOD [HSA:7369] [KO:K18274]
H02022	Griscelli syndrome	... neurological impairment. GS2 is characterized by the hypopigmentation associated with an immune defect, leading to episodes of a life-threatening uncontrolled T lymphocyte and macrophage activation syndrome.	Primary immunodeficiency	(GS1) MYO5A [HSA:4644] [KO:K10357] (GS2) RAB27A [HSA:5873] [KO:K07885] (GS3) MLPH [HSA:79083] [KO:K22235]
H02026	Familial hypocalciuric hypercalcemia	Familial hypocalciuric hypercalcemia (HHC), an autosomal dominant disorder, is characterized by lifelong elevations of serum calcium concentrations with low urinary calcium excretion. HHC is a genetically ...	Inherited metabolic disorder	(HHC1) CASR [HSA:846] [KO:K04612] (HHC2) GNA11 [HSA:2767] [KO:K04635] (HHC3) AP2S1 [HSA:1175] [KO:K11827]
H02036	Combined pituitary hormone deficiency	... include PROP1, POU1F1, HESX1, LHX3, LHX4, and OTX2. Mutations of these transcription factor genes cause a wide range of pituitary phenotypes, from severe life-threatening CPHD to isolated GH deficiency.	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]
H02098	D-bifunctional protein deficiency DBP deficiency Bifunctional enzyme deficiency	... intermediates (DHCA/THCA). The clinical presentation is very severe, and most affected children die within the first 2 years of life. Virtually all patients present with neonatal hypotonia and seizures.	Inherited metabolic disorder	HSD17B4 [HSA:3295] [KO:K12405]
H02107	Bietti crystalline corneoretinal dystrophy	... atrophy of the retinal pigment epithelium (RPE), choriocapillaris, and photoreceptors. BCD usually occurs in the second or third decade of life. CYP4V2 has been identified as the causative gene for BCD.	Nervous system disease	CYP4V2 [HSA:285440] [KO:K07427]
H02110	Doyne honeycomb retinal dystrophy Malattia leventinese	... drusen that accumulate beneath the retinal pigment epithelium. It is usually detected in early adult life and rarely in childhood-onset cases. Based on different patterns of drusen (radial pattern in ML ...	Nervous system disease	EFEMP1 [HSA:2202] [KO:K18262]
H02124	Interstitial lung and liver disease Hereditary pulmonary alveolar proteinosis with hepatic involvement	... to death in childhood or adolescence as a result of lung fibrosis. In addition to lung fibrosis, non-life-threatening liver involvement might be present, as indicated by elevated enzymes, steatosis, fibrosis ...	Respiratory system disease	(ILLD) MARS [HSA:4141] [KO:K01874]
H02140	Boucher-Neuhauser syndrome	... chorioretinal dystrophy. Gait ataxia in BNS has been typically reported between the first and third decades of life; later ages of onset are rare. BNS has recently been linked to autosomal-recessive mutations in ...	Nervous system disease	PNPLA6 [HSA:10908] [KO:K14676]
H02152	Transient familial neonatal hyperbilirubinemia Lucey-Driscoll syndrome	... Lucey-Driscoll syndrome, is a rare familial disorder that causes severe unconjugated hyperbilirubinemia in the first few days of life. It has been suggested that mutations in UGT1A1 cause this disease.	Inherited metabolic disorder	UGT1A1 [HSA:54658] [KO:K00699]
H02174	Sudden infant death with dysgenesis of the testes syndrome	... Infants with SIDDT appear normal at birth, develop signs of visceral and autonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. SIDDT was identified to be ...	Nervous system disease	TSPYL1 [HSA:7259] [KO:K11284]
H02192	Benign recurrent intrahepatic cholestasis	... early childhood and often leads to liver cirrhosis, BRIC typically appears before the second decade of life and has a more benign recurrent pattern. Occasionally BRIC will progress to the more severe and ...	Digestive system disease	(BRIC1) ATP8B1 [HSA:5205] [KO:K01530] (BRIC2) ABCB11 [HSA:8647] [KO:K05664]
H02216	Juvenile absence epilepsy	... generalized epilepsies in adolescence. JAE is characterized by typical absence seizures, and a long-life prevalence of generalized tonic-clonic seizure. The sporadic myoclonic jerks may be observed. The ...	Nervous system disease	(EJA1) EFHC1 [HSA:114327] [KO:K23029] (EJA2) CLCN2 [HSA:1181] [KO:K05011]
H02242	Ehlers-Danlos syndrome vascular type Ehlers-Danlos syndrome type IV	Ehlers-Danlos syndrome vascular type (EDSVASC) is an autosomal dominant life-threatening connective tissue disorder. EDSVASC causes severe fragility of connective tissues with arterial and gastrointestinal ...	Congenital malformation	(EDSVASC) COL3A1 [HSA:1281] [KO:K19720]
H02250	Early-onset vitamin B6-dependent epilepsy	... encodes a protein involved in pyridoxal phosphate (PLP) homeostasis. If patients are not effectively treated with vitamin B6 supplementation, they will have epilepsy with developmental delay early in life.	Nervous system disease	PLPBP [HSA:11212] [KO:K06997]
H02253	Beaulieu-Boycott-Innes syndrome	... clinical presentation includes moderate to severe intellectual disability, mild microcephaly, and non-life threatening congenital malformations including cardiac septal defects, structural renal anomalies ...	Congenital malformation	THOC6 [HSA:79228] [KO:K13175]
H02256	Factor VII deficiency Hypoproconvertinemia	... initiation of blood coagulation. Complete absence of FVII activity in plasma is usually incompatible with life, and individuals die shortly after birth due to severe hemorrhage. The majority of individuals with ...	Hematologic disease	F7 [HSA:2155] [KO:K01320]
H02257	Factor X deficiency	... accompanied by a wide spectrum of clinical presentations, ranging from mild bleeding diathesis to severe life-threatening bleeding episodes such as umbilical cord bleeding and intracranial hemorrhage. A wide ...	Hematologic disease	F10 [HSA:2159] [KO:K01314]
H02262	PEBEL Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy	... is triggered by febrile infections, leading to coma and finally to death within the first 3 years of life. NAXE mutations disrupt the cellular NAD(P)HX repair system and cause PEBEL1. Biallelic pathogenic ...	Nervous system disease	(PABEL1) NAXE [HSA:128240] [KO:K17759] (PABEL2) NAXD [HSA:55739] [KO:K17757]
H02275	Batten disease Spielmeyer-Vogt disease Juvenile neuronal ceroid lipofuscinoses	... neurodegeneration, robbing children of motor skills, speech and cognition, and eventually leading to death in the second or third decade of life. Loss-of-function mutations in CLN3 are responsible for Batten disease.	Inherited metabolic disorder, Lysosomal disease	CLN3 [HSA:1201] [KO:K12389]
H02302	Hepatoblastoma	... hepatoblastoma is the most common liver cancer in children, usually diagnosed during the first 3 years of life. These tumors are thought to arise from hepatic progenitors or hepatoblasts. The most frequent genetic ...	Cancer	CTNNB1 (mutation) [HSA:1499] [KO:K02105] APC (mutation) [HSA:324] [KO:K02085] AXIN2 (mutation) [HSA:8313] [KO:K04385]
H02319	IMAGE syndrome	... metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) is an autosomal dominant undergrowth developmental disorder with life-threatening consequences and caused by mutations in CDKN1C.	Endocrine and metabolic disease	CDKN1C [HSA:1028] [KO:K09993]

201 to 240 of 264 Prev 1 2 3 4 5 6 7 Next