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Entry Name Description Category Pathway Gene
H02708 Baralle-Macken syndrome Baralle-Macken syndrome (BARMACS) is a novel severe neurodevelopmental syndrome with cataracts and variable microcephaly. It has been reported that mutations in COPB1 cause this disease. COPB1 encodes ... Congenital malformation COPB1 [HSA:1315] [KO:K17301]
H02709 Neurodevelopmental disorder with aminoacyl-tRNA synthetase defect ... (tRNA) with its cognate amino acid matching the anticodon triplet of the tRNA. To date, some neurodevelopmental disorders caused by mutations in aaRS genes have been described. Symptoms of these disorders ... Congenital malformation (NEDMAS) SARS1 [HSA:6301] [KO:K01875]
(NDMSCA) VARS1 [HSA:7407] [KO:K01873]
(NEDMILEG) NARS1 [HSA:4677] [KO:K01893]
(NEMMLAS) WARS2 [HSA:10352] [KO:K01867]
(NEDMSBA) WARS1 [HSA:7453] [KO:K01867]
H02711 Acetyl-CoA carboxylase-alpha deficiency ... metabolism caused by mutations in ACACA. ACACAD is characterized by hypotonia, motor and intellectual developmental delay. ACACA encodes acetyl-CoA carboxylase which is the rate-limiting enzyme in the de novo ... Inherited metabolic disorder ACACA [HSA:31] [KO:K11262]
H02712 Li-Campeau syndrome Li-Campeau syndrome (LICAS) is a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Mutations in UBR7 cause this disease. UBR7 is an E3 ligase protein with recognizable UBR-box and ... Congenital malformation UBR7 [HSA:55148] [KO:K11979]
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]
H02715 Neurodevelopmental disorder with defects of ubiquitin-proteasome system ... many cellular processes, such as cell division, gene expression and signal transduction. Many neurodevelopmental disorders caused by mutations in genes encoding components of the UPS have been reported. Congenital malformation (NEDSG) UFC1 [HSA:51506] [KO:K12165]
(NDHSAL) HECW2 [HSA:57520] [KO:K12168]
(NEDAUS) CUL3 [HSA:8452] [KO:K03869]
(NEDAMSS) IRF2BPL [HSA:64207] [KO:K22383]
(NEDHMS) UBE4A [HSA:9354] [KO:K10596]
(NEDSMB) UBE3C [HSA:9690] [KO:K10589]
(NEDSSCC) HECTD4 [HSA:283450] [KO:K17849]
(NEDMHAL) PSMB1 [HSA:5689] [KO:K02732]
(STISS) PSMD12 [HSA:5718] [KO:K03035]
(BKAH) PSMC1 [HSA:5700] [KO:K03062]
(CAFDADD) TRAF7 [HSA:84231] [KO:K10646]
H02716 Becker nevus syndrome ... type of organoid epithelial nevus showing circumscribed hyperpigmentation with hypertrichosis, and developmental abnormalities of different organ systems. It has been identified that mutations in ACTB, encoding ... Congenital malformation ACTB [HSA:60] [KO:K05692]
H02717 Contractures, pterygia, and spondylocarpotarsal fusion syndrome Contractures, pterygia, and spondylocarpotarsal fusion syndrome (CPSFS) is a myosinopathy characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or ... Congenital malformation MYH3 [HSA:4621] [KO:K24220]
H02718 Autosomal dominant pontine microangiopathy and leukoencephalopathy Autosomal dominant pontine microangiopathy and leukoencephalopathy (PADMAL) is a rare hereditary cerebral small vessel disease characterized by multiple small infarctions in the pons. Mutations causing ... Congenital malformation COL4A1 [HSA:1282] [KO:K06237]
H02719 Multifocal fibromuscular dysplasia ... (FMDMF) is one form of dysplasia-associated arterial disease characterized histologically by medial fibroplasia, and angiographically by multiple arterial stenoses with intervening mural dilations. A mutation ... Cardiovascular disease COL5A1 [HSA:1289] [KO:K19721]
H02721 Scapulohumeroperoneal myopathy Scapulohumeroperoneal myopathy (SHPM) is an autosomal dominant slowly progressive scapuloperoneal neuromuscular disorder. Clinical characteristics include mild lower facial weakness, foot drop due to foot ... Nervous system disease; Musculoskeletal disease ACTA1 [HSA:58] [KO:K10354]
H02722 Nevus comedonicus Nevus comedonicus (NC) is an organoid epidermal nevus characterized by monomorphic, large, open comedones occurring on a noninflammatory background and following the lines of Blaschko. The cause of NC ... Congenital malformation NEK9 [HSA:91754] [KO:K20878]
H02726 Kaya-Barakat-Masson syndrome Kaya-Barakat-Masson syndrome (KABAMAS) is a recently identified neurodevelopmental disorder characterized by severe global developmental delay, epilepsy, movement disorder, and microcephaly. It has been ... Congenital malformation YIF1B [HSA:90522] [KO:K20362]
H02727 Triokinase and FMN cyclase deficiency syndrome ... FMN cyclase deficiency syndrome (TKFCD) is a multisystem disease variably including cataracts, developmental delay, liver dysfunction, cerebellar hypoplasia, and fatal cardiomyopathy with lactic acidosis ... Inherited metabolic disorder TKFC [HSA:26007] [KO:K00863]
H02728 Marbach-Schaaf neurodevelopmental syndrome Marbach-Schaaf neurodevelopmental syndrome (MASNS) is a neurodevelopmental disorder with global developmental delay, autism spectrum disorder, and apraxia/dyspraxia. It has been reported mutations in PRKAR1B ... Congenital malformation PRKAR1B [HSA:5575] [KO:K04739]
H02731 Transient infantile hypertriglyceridemia ... and NAD+. The hypertriglyceridemia is associated with hepatomegaly and moderately elevated transaminases that may decrease later in life, persistent fatty liver, and the development of hepatic fibrosis. Inherited metabolic disorder GPD1 [HSA:2819] [KO:K00006]
H02733 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) is a novel autosomal recessive multisystem syndrome. It has been reported that a ZPR1 mutation is associated with GKAF. ... Congenital malformation ZPR1 [HSA:8882] [KO:K06874]
H02734 Hengel-Maroofian-Schols syndrome Hengel-Maroofian-Schols syndrome (HEMARS) is an autosomal recessive syndromic neurodevelopmental disorder characterized by a global developmental delay, pyramidal tract involvement, microcephaly, short ... Congenital malformation BCAS3 [HSA:54828] [KO:K24550]
H02735 Diaphyseal medullary stenosis with malignant fibrous histiocytoma ... fibrous histiocytoma (DMSMFH) is a rare autosomal dominant syndrome characterized by bone dysplasia, myopathy, and bone cancer. It has been reported that mutations in MTAP cause this syndrome. MTAP encodes ... Congenital malformation MTAP [HSA:4507] [KO:K00772]
H02736 Neurodegeneration and seizures due to copper transport defect Neurodegeneration and seizures due to copper transport defect (NSCT) is an autosomal recessive infantile-onset syndrome. The condition is characterized by hypotonia, global developmental delay, seizures ... Nervous system disease SLC31A1 [HSA:1317] [KO:K14686]
H02737 Familial multinodular goiter Multinodular goiter (MNG) is a common disorder characterized by a nodular enlargement of the thyroid gland. As opposed to toxic MNG, the non-toxic subtype does not result from an inflammatory or neoplastic process ... Endocrine and metabolic disease (MNG1) DICER1 [HSA:23405] [KO:K11592]
H02738 Childhood-onset neurodegeneration with cerebellar atrophy Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a lower motor neuron disorder due to biallelic loss-of-function mutations in AGTPBP1. Patients generally presented with muscular hypotonia ... Nervous system disease (CONDCA) AGTPBP1 [HSA:23287] [KO:K23435]
H02739 Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline (CONATOC) is a neurodegenerative disease caused by mutations in the SLC44A1 gene encoding choline transporter-like ... Nervous system disease (CONATOC) SLC44A1 [HSA:23446] [KO:K06515]
H02742 Congenital neuromuscular disorder with dysmorphic facies ... Patients exhibit a broad spectrum of neurological symptoms including brain malformations, neurodevelopmental delay, muscle weakness and pathology and dysmorphic features. FILIP1 is a structural protein ... Congenital malformation FILIP1 [HSA:27145]
H02743 KINSSHIP syndrome ... variants in the degron of AFF3 cause this disease. AFF3 encodes a component of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. Congenital malformation AFF3 [HSA:3899] [KO:K15195]
H02744 Neurofacioskeletal syndrome with or without renal agenesis Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) is a syndrome characterized by developmental delay, corpus callosum agenesis or hypoplasia, facial dysmorphism, short stature, and other ... Congenital malformation HS2ST1 [HSA:9653] [KO:K02513]
H02747 Oculogastrointestinal neurodevelopmental syndrome Oculogastrointestinal neurodevelopmental syndrome (OGIN) is a syndrome of congenital malformations and developmental delay caused by mutations in CAPN15. Clinical features include microcephaly, global ... Congenital malformation CAPN15 [HSA:8449] [KO:K12813]
H02749 Bleeding disorder vascular-type ... platelet function. It has been reported that mutations in APOLD1 cause this disease. APOLD1 encodes apolipoprotein L domain-containing 1, which was recently identified as an endothelial cell early response protein ... Hematologic disease APOLD1 [HSA:81575]
H02751 Orthostatic hypotension ... inadequate vasoconstrictor mechanisms. Characteristic symptoms include lightheadedness, dizziness, and syncope. Orthostatic hypotension is a common clinical problem, but the underlying mechanisms have not been ... Cardiovascular disease (ORTHYP1) DBH [HSA:1621] [KO:K00503]
(ORTHYP2) CYB561 [HSA:1534] [KO:K08360]
H02752 Tan-Almurshedi syndrome Tan-Almurshedi syndrome (TANALS) is an autosomal recessive neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature, and craniofacial anomalies. It has been reported ... Congenital malformation DRG1 [HSA:4733] [KO:K06944]
H02753 Vertebral anomalies and variable endocrine and T-cell dysfunction ... manifestations include congenital cardiac defects, skeletal abnormalities, facial dysmorphia, variable developmental delay and endocrine system disorders. TBX2 encodes a T-box transcriptional regulator. T-box ... Congenital malformation TBX2 [HSA:6909] [KO:K10176]
H02754 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) is a very rare condition caused by mutations in SLC13A3. Patients exhibit a reversible leukoencephalopathy and urinary ... Inherited metabolic disorder SLC13A3 [HSA:64849] [KO:K14445]
H02756 Congenital juvenile recurrent respiratory papillomatosis Juvenile recurrent respiratory papillomatosis (JRRP) is a rare and debilitating childhood disease that presents with recurrent growth of papillomas in the upper airway. JRRP is associated with infection ... Neoplasm NLRP1 [HSA:22861] [KO:K12798]
H02759 Suleiman-El-Hattab syndrome Suleiman-El-Hattab syndrome is an autosomal recessive syndrome characterized by developmental delay, acquired microcephaly, distinctive facial features, and multiple congenital anomalies involving skeletal ... Congenital malformation TASP1 [HSA:55617] [KO:K08657]
H02760 BDV syndrome ... characterized by morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotrophic hypogonadism. It has been reported that mutations in CPE cause this syndrome. CPE encodes carboxypeptidase ... Inherited metabolic disorder CPE [HSA:1363] [KO:K01294]
H02761 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia ... including megaloblastic anemia, atypical hemolytic uremic syndrome, hyperhomocysteinemia, microangiopathy, infections and autoimmune diseases have been reported. MTHFD1 is a trifunctional enzyme that ... Inherited metabolic disorder (CIMAH) MTHFD1 [HSA:4522] [KO:K00288]
H02763 Neurocardiofaciodigital syndrome Neurocardiofaciodigital syndrome (NCFD) is a new multiple congenital anomalies syndrome characterized by severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a ... Congenital malformation MAPKAPK5 [HSA:8550] [KO:K04442]
H02764 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies ... facies (SHRF) is a newly described disease caused by mutations in EXOSC2. Patients exhibit childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, short stature, brachydactyly ... Congenital malformation EXOSC2 [HSA:23404] [KO:K03679]
H02765 Prieto syndrome ... mutations in WNK3 cause this syndrome. WNK3 is a chloride and cell volume-sensitive kinase, implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters. Congenital malformation WNK3 [HSA:65267] [KO:K08867]
H02766 Radiohumeral fusions with other skeletal and craniofacial anomalies ... encodes the retinoic acid-degrading enzyme. Retinoic acid is well-known to play roles in vertebrate limb development and embryonic exposures have teratogenic effects on the limb and craniofacial skeleton. Congenital malformation CYP26B1 [HSA:56603] [KO:K12664]
1761 to 1800 of 1800 Prev 1 ... 40 41 42 43 44 45
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