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Entry Name Description Category Pathway Gene
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]
H02690 Structural heart defects and renal anomalies syndrome Structural heart defects and renal anomalies syndrome (SHDRA) is a severe developmental disorder associated with congenital cardiac malformations and early childhood mortality. It has been reported that ... Inherited metabolic disorder TMEM260 [HSA:54916] [KO:K27244]
H02691 Scalp-ear-nipple syndrome Scalp-ear-nipple syndrome (SENS) is a rare autosomal dominant condition that involves lesions of the scalp, malformed external ears, and absence of rudimentary nipples and breasts. It has been reported ... Congenital malformation KCTD1 [HSA:284252] [KO:K21754]
H02692 Usmani-Riazuddin syndrome Usmani-Riazuddin syndrome is a neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. It has been reported that mutations in AP1G1 cause this disease. AP1G1 encodes ... Nervous system disease AP1G1 [HSA:164] [KO:K12391]
H02693 Congenital cranial dysinnervation disorder with absent corneal reflex and developmental delay Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial ... Nervous system disease NEUROG1 [HSA:4762] [KO:K09081]
H02694 Alazami-Yuan syndrome Alazami-Yuan syndrome (ALYUS) is an autosomal-recessive disorder with Cornelia de Lange syndrome-like features [DS:H00631]. It is caused by homozygous mutations in TAF6, which encodes a core transcriptional ... Congenital malformation TAF6 [HSA:6878] [KO:K03131]
H02695 Fibrosis, neurodegeneration, and cerebral angiomatosis Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) is a novel autosomal recessive disease characterized by early-onset cerebropulmonary symptoms, malabsorption, growth failure, recurrent infections ... Congenital malformation NHLRC2 [HSA:374354]
H02696 Early-onset epilepsy Early-onset epilepsy (EPEO) is a neurological abnormality in childhood, and it is especially common in the first 2 years after birth. Seizures in early life mostly result from structural or metabolic disorders ... Nervous system disease (EPEO1) PLPBP [HSA:11212] [KO:K06997]
(EPEO2) SETD1A [HSA:9739] [KO:K11422]
(EPEO3) ATP6V0C [HSA:527] [KO:K02155]
(EPEO4) ALDH7A1 [HSA:501] [KO:K14085]
H02697 Long-Olsen-Distelmaier syndrome Long-Olsen-Distelmaier syndrome (LNGODS) is a syndromic fetal dilated cardiomyopathy associated with hepatopathy and brain abnormalities. It has been reported that gain-of-function mutations in RRAGC cause ... Congenital malformation RRAGC [HSA:64121] [KO:K16186]
H02698 Trichohepatoneurodevelopmental syndrome Trichohepatoneurodevelopmental syndrome (THNS) is a rare autosomal recessive disease characterized by woolly hair, liver dysfunction, dysmorphic features, hypotonia, and global developmental delay. It ... Congenital malformation CCDC47 [HSA:57003] [KO:K24962]
H02699 Folate-responsive megaloblastic anemia Folate-responsive megaloblastic anemia (MEGAF) is a severe recurrent megaloblastic anemia caused by mutations in SLC19A1. It has been reported that the laboratory abnormalities and clinical signs were ... Inherited metabolic disorder SLC19A1 [HSA:6573] [KO:K14609]
H02700 Intellectual developmental disorder with impaired language and dysmorphic facies Intellectual developmental disorder (IDD) with impaired language and dysmorphic facies is a group of disorders characterized by speech difficulty and intellectual disability. It has been reported that ... Mental and behavioural disorder (IDDILF) DDX6 [HSA:1656] [KO:K12614]
(IDDSADF) CNOT3 [HSA:4849] [KO:K12580]
(IDNADFS) CNOT2 [HSA:4848] [KO:K12605]
H02701 Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is a novel form of mitochondrial myopathy. It has been reported that mutations in SLC25A42 cause ... Inherited metabolic disorder, Mitochondrial disease SLC25A42 [HSA:284439] [KO:K15085]
H02702 Tylosis with esophageal cancer Tylosis with esophageal cancer (TOC) is an autosomal-dominant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a high lifetime risk of esophageal cancer. It has been reported ... Congenital malformation RHBDF2 [HSA:79651]
H02703 VISS syndrome VISS syndrome (vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity) is a syndromic connective tissue disorder caused by bi-allelic mutations in IPO8. Importin 8, encoded ... Congenital malformation IPO8 [HSA:10526] [KO:K18755]
H02704 Mitochondrial myopathy and ataxia Mitochondrial myopathy and ataxia (MMYAT) is a rare disease characterized by early-onset myopathy and cerebellar ataxia. It has been reported that mutations in MSTO1 cause this disease. MSTO1 is a soluble ... Nervous system disease MSTO1 [HSA:55154] [KO:K27320]
H02705 Neurodevelopmental disorder with glutamatergic synapse dysfunction Glutamate is the major excitatory neurotransmitter in the central nervous system (CNS) and mediates its actions via activation of both ionotropic and metabotropic receptor families. Recent studies have ... Nervous system disease (NEDLIB) GRIA2 [HSA:2891] [KO:K05198]
(NEDSGA) GRIA4 [HSA:2893] [KO:K05200]
(NDHMSR) GRIN1 [HSA:2902] [KO:K05208]
(NEDSHBA) GRM7 [HSA:2917] [KO:K04609]
(NEDHISB) GNAI1 [HSA:2770] [KO:K04630]
(NEDHYDF) GNB2 [HSA:2783] [KO:K04537]
H02706 Early-onset dystonia and/or spastic paraplegia Early-onset dystonia and/or spastic paraplegia (DYTSPG) is an autosomal dominant neurological disease caused by mutations in ATP5MC3. ATP5MC3 encodes the c subunit of mitochondrial complex V. Nervous system disease ATP5MC3 [HSA:518] [KO:K02128]
H02707 Khan-Khan-Katsanis syndrome Khan-Khan-Katsanis syndrome (3KS) is a neurodevelopmental disorder with microcephaly. NCAPG2 encodes a member of the condensin II complex, necessary for the condensation of chromosomes prior to cell division Congenital malformation NCAPG2 [HSA:54892] [KO:K11492]
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 The aminoacyl-tRNA synthetases (aaRSs) are an evolutionarily ancient family of enzymes that catalyze the esterification reaction linking a transfer RNA (tRNA) with its cognate amino acid matching the anticodon ... 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 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 malformation DLG5 [HSA:9231] [KO:K24050]
H02711 Acetyl-CoA carboxylase-alpha deficiency Acetyl-CoA carboxylase-alpha deficiency (ACACAD) is a rare autosomal recessive inborn error of metabolism caused by mutations in ACACA. ACACAD is characterized by hypotonia, motor and intellectual developmental ... 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]
H02713 Inflammatory poikiloderma with hair abnormalities and acral keratoses Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) is a novel autosomal recessive dermatological condition caused by mutations in LTV1. LTV1 encodes one of the ribosome biogenesis ... Congenital malformation LTV1 [HSA:84946] [KO:K14798]
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 The ubiquitin-proteasome system (UPS) is the major proteolytic system that controls protein degradation and it regulates many cellular processes, such as cell division, gene expression and signal transduction ... 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 Becker nevus syndrome (BNS) is a epidermal nevus syndrome characterized by the presence of a particular type of organoid epithelial nevus showing circumscribed hyperpigmentation with hypertrichosis, and ... Congenital malformation ACTB [HSA:60] [KO:K05692]
H02717 Contractures, pterygia, and spondylocarpostarsal fusion syndrome Contractures, pterygia, and spondylocarpostarsal 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 Multifocal fibromuscular dysplasia (FMDMF) is one form of dysplasia-associated arterial disease characterized histologically by medial fibroplasia, and angiographically by multiple arterial stenoses with ... Cardiovascular disease COL5A1 [HSA:1289] [KO:K19721]
H02720 Meester-Loeys syndrome Meester-Loeys syndrome (MRLS) is an X-linked thoracic aortic aneurysm and dissection (TAAD) syndrome. In addition to the aorta, aneurysms in the brain, pulmonary artery, and ductus arteriosus have been ... Cardiovascular disease BGN [HSA:633] [KO:K08118]
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]
H02723 Macrocephaly/autism syndrome Macrocephaly/autism syndrome refers to a subset of individuals within the autism spectrum with extreme macrocephaly or head circumference more than two standard deviations above the mean. The association ... Congenital malformation PTEN [HSA:5728] [KO:K01110]
H02724 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome Combined osteogenesis imperfecta and Ehlers-Danlos syndrome (OIEDS) is a generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures ... Congenital malformation (OIEDS1) COL1A1 [HSA:1277] [KO:K06236]
(OIEDS2) COL1A2 [HSA:1278] [KO:K06236]
H02725 Heart-hand syndrome Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. HHS includes the most common ... Congenital malformation (HOS) TBX5 [HSA:6910] [KO:K10179]
(HHS-S) LMNA [HSA:4000] [KO:K12641]
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 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]
H02728 Marbach-Schaaf neurodevelopmental syndrome Marbach-Schaaf neurodevelopmental syndrome (MASNS) 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]
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