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Entry Name Description Category Pathway Gene
H02703 VISS syndrome ... 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 by IPO8, is a ubiquitously expressed ... Congenital malformation IPO8 [HSA:10526] [KO:K18755]
H02705 Neurodevelopmental disorder with glutamatergic synapse dysfunction ... both ionotropic and metabotropic receptor families. Recent studies have shown that rare mutations in glutamate receptors and synaptic scaffold proteins are associated with neurodevelopmental disorders. Nervous system disease (NEDLIB) GRIA2 [HSA:2891] [KO:K05198]
(NEDSGA) GRIA4 [HSA:2893] [KO:K05200]
(NDHMSD/NDHMSR) GRIN1 [HSA:2902] [KO:K05208]
(NEDSHBA) GRM7 [HSA:2917] [KO:K04609]
(NEDHISB) GNAI1 [HSA:2770] [KO:K04630]
(NEDHYDF) GNB2 [HSA:2783] [KO:K04537]
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]
H02709 Neurodevelopmental disorder with aminoacyl-tRNA synthetase defect ... 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 include intellectual ... 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]
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]
(NEDLBF) UBAP2L [HSA:9898] [KO:K26545]
(NSDVS) SPOP [HSA:8405] [KO:K10523]
(NEDJED) FBXW11 [HSA:23291] [KO:K03362]
(BURHAS) SIAH1 [HSA:6477] [KO:K04506]
(NEDFIH) NAE1 [HSA:8883] [KO:K04532]
(MCAND) OTUD5 [HSA:55593] [KO:K12655]
(NEDHS) OTUD7A [HSA:161725] [KO:K11860]
(NEDMHAL) PSMB1 [HSA:5689] [KO:K02732]
(STISS) PSMD12 [HSA:5718] [KO:K03035]
(BKAH) PSMC1 [HSA:5700] [KO:K03062]
(CAFDADD) TRAF7 [HSA:84231] [KO:K10646]
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 eversion and ... Nervous system disease; Musculoskeletal disease ACTA1 [HSA:58] [KO:K10354]
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) 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 Transient infantile hypertriglyceridemia (HTGTI) is a rare hypertriglyceridemia in infancy caused by mutations in GPD1 encoding glycerol-3-phosphate dehydrogenase. GPD1 catalyzes the reversible redox reaction ... Inherited metabolic disorder GPD1 [HSA:2819] [KO:K00006]
H02732 Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly
Regressive spondylometaphyseal dysplasia 		... anomaly (SKPHA), also known as regressive spondylometaphyseal dysplasia, is an autosomal recessive disorder characterized by both short stature and other skeletal anomalies with or without abnormal blood ... Congenital malformation LBR [HSA:3930] [KO:K19532]
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]
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 ... 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]
H02741 Childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline Childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline (CONDCAC) is a novel early-onset disorder caused by the gain-of-function mutation in CAPRIN1. CAPRIN1 is a ubiquitously expressed protein ... Nervous system disease (CONDCAC) CAPRIN1 [HSA:4076] [KO:K18743]
H02742 Congenital neuromuscular disorder with dysmorphic facies Congenital neuromuscular disorder with dysmorphic facies (NMDF) is a novel autosomal recessive disorder caused by loss-of-function mutations in FILIP1. Patients exhibit a broad spectrum of neurological ... Congenital malformation FILIP1 [HSA:27145] [KO:K27698]
H02743 KINSSHIP syndrome KINSSHIP syndrome is an autosomal dominant disorder characterized by horseshoe kidney, mesomelic dysplasia, seizures, hypertrichosis, intellectual disability, and pulmonary involvement. It has been reported ... Congenital malformation AFF3 [HSA:3899] [KO:K15195]
H02748 Hepatorenocardiac degenerative fibrosis Hepatorenocardiac degenerative fibrosis (HRCDF) is a rare autosomal recessive disorder characterized by multiorgan fibrosis. Patients present progressive fibrotic liver disease and variable kidney and ... Congenital malformation TULP3 [HSA:7289] [KO:K19600]
H02749 Bleeding disorder vascular-type Bleeding disorder vascular-type (BDVAS) is a novel autosomal dominant disorder associated with episodic impaired microcirculation. Patients present a severe atypical bleeding diathesis despite unaltered ... Hematologic disease APOLD1 [HSA:81575]
H02750 Glutathionuria Glutathionuria is a rare disease caused by mutations in GGT1. Most patients presented involvement of the central nervous system in the form of moderate mental retardation, behavioral disturbance, and seizures ... Inherited metabolic disorder GGT1 [HSA:2678] [KO:K18592]
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 Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) is a new multisystem malformation disorder caused by mutations in TBX2. Common clinical manifestations include congenital cardiac defects ... 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]
H02757 Recurrent respiratory infections and failure to thrive with or without diarrhea Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD) is a rare genetic disorder characterized by recurrent lower respiratory infections, chronic diarrhoea, and failure to thrive ... Respiratory system disease AGR2 [HSA:10551] [KO:K20356]
H02760 BDV syndrome BDV syndrome is a novel syndrome characterized by morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotrophic hypogonadism. It has been reported that mutations in CPE cause ... Inherited metabolic disorder CPE [HSA:1363] [KO:K01294]
H02761 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) is a severe combined immunodeficiency resulting from MTHFD1 mutations. Variable phenotypes, including megaloblastic ... Inherited metabolic disorder (CIMAH) MTHFD1 [HSA:4522] [KO:K00288]
H02767 Congenital disorder of deglycosylation Congenital disorder of deglycosylation (CDDG) is caused by loss of function of enzymes involved in free oligosaccharide (fOS) metabolism. FOSs are soluble oligosaccharide species generated during N-glycosylation ... Inherited metabolic disorder (CDDG1) NGLY1 [HSA:55768] [KO:K01456]
(CDDG2) MAN2C1 [HSA:4123] [KO:K01191]
H02772 Neurooculocardiogenitourinary syndrome Neurooculocardiogenitourinary syndrome (NOCGUS) is a severe multisystemic syndrome characterized by motor disorder, intellectual disability, seizures, abnormal brain structure, ocular diseases, and cardiac diseases ... Congenital malformation WDR37 [HSA:22884] [KO:K24744]
H02774 Hypotaurinemic retinal degeneration and cardiomyopathy Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) is a novel autosomal recessive disorder characterized by progressive childhood retinal degeneration, cardiomyopathy, and almost undetectable ... Inherited metabolic disorder SLC6A6 [HSA:6533] [KO:K05039]
H02775 Visual impairment and progressive phthisis bulbi Visual impairment and progressive phthisis bulbi (VIPB) is a rare autosomal recessive disorder characterized by congenital vision loss and progressive eye degeneration. It has been reported that mutations ... Nervous system disease MARK3 [HSA:4140] [KO:K08798]
H02777 Spastic paraplegia, intellectual disability, nystagmus, and obesity Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is a rare autosomal dominant disorder characterized by lower-limb hypertonia and weakness combined with obesity and intellectual disability ... Nervous system disease KIDINS220 [HSA:57498] [KO:K12460]
H02779 Riboflavin-responsive exercise intolerance Riboflavin-responsive exercise intolerance (RREI) is an autosomal recessive disorder with a neuromuscular phenotype of early-onset ataxia, myoclonia, dysarthria, muscle weakness, and exercise intolerance ... Inherited metabolic disorder SLC25A32 [HSA:81034] [KO:K15115]
H02780 Liberfarb syndrome Liberfarb syndrome (LIBF) is a multisystem disorder characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis ... Congenital malformation PISD [HSA:23761] [KO:K01613]
H02781 Ichthyosis with erythrokeratoderma Ichthyosis with erythrokeratoderma (IEKD) is an autosomal dominant cornification disorder. It has been reported that KLK11 belongs to the kallikrein-related peptidase family associated with skin desquamation ... Congenital malformation KLK11 [HSA:11012] [KO:K09620]
H02782 Fliedner-Zweier syndrome Fliedner-Zweier syndrome (FZS) is a novel autosomal dominant neurodevelopmental disorder characterized by intellectual disability, seizures, behavioral abnormalities, facial dysmorphisms, and skeletal ... Congenital malformation SCAF4 [HSA:57466] [KO:K13167]
H02784 Global developmental delay with speech and behavioral abnormalities Global developmental delay with speech and behavioral abnormalities (GDSBA) is a rare genetic disorder characterized by developmental delay/intellectual disability and a spectrum of neurobehavioral phenotypes ... Mental and behavioural disorder TNRC6B [HSA:23112] [KO:K18412]
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