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Entry Name Description Category Pathway Gene
H02622 Shukla-Vernon syndrome ... associated with this disease. BCORL1, a transcriptional corepressor, is involved in negative gene regulation through associations with several protein complexes including class II histone deacetylases. Congenital malformation BCORL1 [HSA:63035] [KO:K26199]
H02624 Tumor predisposition syndrome ... this syndrome. BAP1 is a ubiquitin carboxy-terminal hydrolase that regulates a number of processes including DNA damage repair, cell cycle control, chromatin modification, and the immune response. Recently ... Cancer (TPDS1) BAP1 [HSA:8314] [KO:K08588]
(TPDS2) MBD4 [HSA:8930] [KO:K10801]
(TPDS3) POT1 [HSA:25913] [KO:K11109]
(TPDS4) CHEK2 [HSA:11200] [KO:K06641]
H02632 PP2A-related neurodevelopmental disorder ... Phosphatase type 2A (PP2A) enzymes play essential regulatory roles in cellular signalling and physiology, including in brain function and development. It has been known for decades that PP2A dysregulation results ... Congenital malformation (NEDLBA) PPP2CA [HSA:5515] [KO:K04382]
(MRD35) PPP2R5D [HSA:5528] [KO:K11584]
(MRD36) PPP2R1A [HSA:5518] [KO:K03456]
H02638 Zaki syndrome Zaki syndrome is a novel structural syndrome characterized by multiorgan defects, including microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects ... Congenital malformation WLS [HSA:79971] [KO:K27258]
H02652 Macrocephaly, acquired, with impaired intellectual development ... anomalies. Recently, haploinsufficiency of NFIB has been shown to cause this disease. NFIB is a NFI family member that play an important role in development of multiple organ systems including the brain. Congenital malformation NFIB [HSA:4781] [KO:K09169]
H02654 Boudin-Mortier syndrome ... syndrome characterized by tall stature, long digits, and variable connective tissue abnormalities, including aortic dilatation and joint hypermobility. It has been reported that mutations in NPR3 cause ... 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]
H02673 Craniofacial microsomia ... craniofacial developmental disorder of variable expressivity and severity. The craniofacial anomalies include ear dysplasia, microtia, and preauricular tags, and originate from the first and second pharyngeal ... Congenital malformation (CFM1) SF3B2 [HSA:10992] [KO:K12829]
(CFM2) FOXI3 [HSA:344167] [KO:K09401]
H02676 Infantile-onset parkinsonism-dystonia Infantile-onset parkinsonism-dystonia (PKDYS) is a heterogeneous group of inherited disorders characterized by abnormal movements, including parkinsonism, dystonia, and developmental delay. Nervous system disease (PKDYS1) SLC6A3 [HSA:6531] [KO:K05036]
(PKDYS2) SLC18A2 [HSA:6571] [KO:K08155]
(PKDYS3) WARS2 [HSA:10352] [KO:K01867]
H02682 Nizon-Isidor syndrome ... is a neurodevelopmental disorder characterized by intellectual disability and developmental delay, including speech impairment. It has been reported that mutations in MED12L cause this disease. MED12L is ... Mental and behavioural disorder MED12L [HSA:116931] [KO:K15162]
H02684 Mitochondrial progressive myopathy with congenital cataract and developmental delay ... (MPMCD) is a rare mitochondrial encephalomyopathy caused by mutations in the GFER gene. Their phenotype included congenital cataracts, hypotonia, developmental delay, and sensorineural hearing loss. It has been ... Nervous system disease GFER [HSA:2671] [KO:K17783]
H02685 Developmental delay with neuropsychiatric disorders ... neurodevelopmental disorders characterized by global developmental delay and neurologic deficits. Additional features may include speech delay, dysmorphic features, hypotonia, behavioral abnormalities, and seizures. Congenital malformation (DIGFAN) MORC2 [HSA:22880] [KO:K24135]
(DDISBA) SPTBN1 [HSA:6711] [KO:K06115]
(DEHMBA) SRCAP [HSA:10847] [KO:K11661]
(DENBA) LMBRD2 [HSA:92255]
(DEDISB) ARFGEF1 [HSA:10565] [KO:K18442]
(DEDHIL) FBXW7 [HSA:55294] [KO:K10260]
(DEDBANP) ADGRL1 [HSA:22859] [KO:K04592]
(DEVLO) ARPC4 [HSA:10093] [KO:K05755]
(DEDHMB) GOLGA2 [HSA:2801] [KO:K20358]
(DDDS) MANF [HSA:7873] [KO:K22556]
(DDVIBA) TCF20 [HSA:6942] [KO:K24769]
(DIDOD) PHIP [HSA:55023] [KO:K11797]
(DDIB) TAOK1 [HSA:57551] [KO:K04429]
(DEVDFB) U2AF2 [HSA:11338] [KO:K12837]
H02703 VISS syndrome ... ubiquitously expressed member of the importin-beta protein family that translocates cargo molecules. It has been suggested that the cargoes of importin 8 include TGF-beta signaling components such as SMAD. Congenital malformation IPO8 [HSA:10526] [KO:K18755]
H02709 Neurodevelopmental disorder with aminoacyl-tRNA synthetase defect ... neurodevelopmental disorders caused by mutations in aaRS genes have been described. Symptoms of these disorders include intellectual disability, delayed language development and ability to walk, microcephaly, movement ... 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]
H02710 Yuksel-Vogel-Bauer syndrome ... (YUVOB) is a multisystemic disorder caused by mutations in DLG5. Patients have a variety of phenotypes including cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease ... Congenital malformation DLG5 [HSA:9231] [KO:K24050]
H02721 Scapulohumeroperoneal myopathy ... autosomal dominant slowly progressive scapuloperoneal neuromuscular disorder. Clinical characteristics include mild lower facial weakness, foot drop due to foot eversion and dorsiflexion weakness, finger drop ... Nervous system disease; Musculoskeletal disease ACTA1 [HSA:58] [KO:K10354]
H02725 Heart-hand syndrome ... disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. HHS includes the most common type HHS of Holt-Oram syndrome (HOS) and several rare types. TBX5 and LMNA are ... Congenital malformation (HOS) TBX5 [HSA:6910] [KO:K10179]
(HHS-S) LMNA [HSA:4000] [KO:K12641]
H02727 Triokinase and FMN cyclase deficiency syndrome Triokinase and FMN cyclase deficiency syndrome (TKFCD) is a multisystem disease variably including cataracts, developmental delay, liver dysfunction, cerebellar hypoplasia, and fatal cardiomyopathy with ... Inherited metabolic disorder TKFC [HSA:26007] [KO:K00863]
H02742 Congenital neuromuscular disorder with dysmorphic facies ... by loss-of-function mutations in FILIP1. Patients exhibit a broad spectrum of neurological symptoms including brain malformations, neurodevelopmental delay, muscle weakness and pathology and dysmorphic features ... Congenital malformation FILIP1 [HSA:27145]
H02747 Oculogastrointestinal neurodevelopmental syndrome ... congenital malformations and developmental delay caused by mutations in CAPN15. Clinical features include microcephaly, global developmental delay, dysmorphic features, endocrine abnormalities and congenital ... Congenital malformation CAPN15 [HSA:8449] [KO:K12813]
H02751 Orthostatic hypotension ... of cardiac output or by defective or inadequate vasoconstrictor mechanisms. Characteristic symptoms include lightheadedness, dizziness, and syncope. Orthostatic hypotension is a common clinical problem, ... Cardiovascular disease (ORTHYP1) DBH [HSA:1621] [KO:K00503]
(ORTHYP2) CYB561 [HSA:1534] [KO:K08360]
H02753 Vertebral anomalies and variable endocrine and T-cell dysfunction ... new multisystem malformation disorder caused by mutations in TBX2. Common clinical manifestations include congenital cardiac defects, skeletal abnormalities, facial dysmorphia, variable developmental delay ... Congenital malformation TBX2 [HSA:6909] [KO:K10176]
H02755 Lui-Jee-Baron syndrome ... syndrome (LJBS) is an X-linked overgrowth syndrome caused by mutations in SPIN4. Clinical presentation includes extreme tall stature, enlarged liver and spleen, and macrocephaly. It has been suggested that ... Congenital malformation SPIN4 [HSA:139886]
H02758 ACCES syndrome ACCES syndrome is associated with a variable phenotype that includes aplasia cutis congenita and ectrodactyly as specific features. It has been reported that mutations in UBA2 cause this syndrome. UBA2 ... Congenital malformation UBA2 [HSA:10054] [KO:K10685]
H02761 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia ... (CIMAH) is a severe combined immunodeficiency resulting from MTHFD1 mutations. Variable phenotypes, including megaloblastic anemia, atypical hemolytic uremic syndrome, hyperhomocysteinemia, microangiopathy ... Inherited metabolic disorder (CIMAH) MTHFD1 [HSA:4522] [KO:K00288]
H02762 Osteo-oto-hepato-enteric syndrome ... this syndrome. UNC45A belongs to the conserved UCS protein family of myosin cochaperones, which participates in myosin-dependent functions, including cytokinesis, endocytosis, and muscle organization. Congenital malformation UNC45A [HSA:55898] [KO:K21991]
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