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Entry Name Description Category Pathway Gene
H02559 Microvascular complications of diabetes Microvascular complications of diabetes (MVCD) caused by damage in the small blood vessels contribute to pathologic and functional changes in many tissues, including eye, heart, kidney, skin, and neuronal ... Endocrine and metabolic disease (MVCD1) VEGFA [HSA:7422] [KO:K05448]
(MVCD2) EPO [HSA:2056] [KO:K05437]
(MVCD3) ACE [HSA:1636] [KO:K01283]
(MVCD4) IL1RN [HSA:3557] [KO:K05481]
(MVCD5) PON1 [HSA:5444] [KO:K01045]
(MVCD6) SOD2 [HSA:6648] [KO:K04564]
(MVCD7) HFE [HSA:3077] [KO:K26535]
H02562 Yoon-Bellen neurodevelopmental syndrome ... YOBELN is caused by mutations in OGDHL that encodes 2-oxoglutarate dehydrogenase-like protein. OGDHL is a rate-limiting enzyme in the Krebs cycle that plays a pivotal role in mitochondrial metabolism. Inherited metabolic disorder, Mitochondrial disease OGDHL [HSA:55753] [KO:K00164]
H02567 Sorbitol dehydrogenase deficiency with peripheral neuropathy Sorbitol dehydrogenase deficiency with peripheral neuropathy is an autosomal recessive neuropathy characterized by onset of distal muscle weakness mainly affecting the lower limbs. It is caused by biallelic ... Inherited metabolic disorder SORD [HSA:6652] [KO:K00008]
H02568 Polymerase proofreading-associated polyposis ... caused by germline variants in the exonuclease domains of POLD1 and POLE. PPAP is characterized by oligo adenomatous polyposis and increased risk of colorectal cancer, endometrial cancer and brain tumors. Cancer POLD1 [HSA:5424] [KO:K02327]
POLE [HSA:5426] [KO:K02324]
H02575 Lactose intolerance, adult type Lactose intolerance, adult type is a common condition resulting from the physiological decline in activity of the lactase phlorizin hydrolase (LPH) in intestinal cells after weaning. In a minority of adults ... Inherited metabolic disorder MCM6 [HSA:4175] [KO:K02542]
H02578 Short stature, microcephaly, and endocrine dysfunction ... primordial dwarfism characterized by severe postnatal growth failure, microcephaly, gonadal failure, metabolic syndrome, and possibly tumor predisposition. It has been reported that mutations in XRCC4 cause ... Congenital malformation XRCC4 [HSA:7518] [KO:K10886]
H02596 Disorders of carnitine transport and the carnitine cycle Carnitine plays an essential role in the transfer of long-chain fatty acids across the inner mitochondrial membrane. Disorders of carnitine transport and the carnitine cycle are congenital defects of enzymes ... Inherited metabolic disorder CPT1A [HSA:1374] [KO:K08765]
CPT2 [HSA:1376] [KO:K08766]
SLC25A20 [HSA:788] [KO:K15109]
SLC22A5 [HSA:6584] [KO:K08202]
H02597 Sepiapterin reductase deficiency Sepiapterin reductase deficiency is a very rare autosomal recessive disease resulting in monoamine neurotransmitter depletion. Patients exhibit progressive psychomotor retardation, dystonia, dopamine and ... Inherited metabolic disorder SPR [HSA:6697] [KO:K00072]
H02618 Developmental delay with variable intellectual disability and dysmorphic facies ... disability and dysmorphic facies (DIDDF) is a neurodevelopmental syndrome caused by mutations in JARID2. JARID2, which is expressed in human neurons, is a regulator of histone methyltransferase complexes. Congenital malformation JARID2 [HSA:3720] [KO:K11478]
H02630 Chitayat syndrome ... characterized by bilateral hand hyperphalangism resulting in shortening and ulnar deviation of the index and sometimes third fingers, hallux valgus, mild facial dysmorphism and respiratory complications presenting ... Congenital malformation (CHYTS) ERF [HSA:2077] [KO:K09434]
H02631 Melorheostosis Melorheostosis (MEL) is a rare sclerosing hyperostosis characterized by asymmetric bone overgrowth and functional impairment. Recent studies indicate that most cases arise from somatic MAP2K1 mutations ... Musculoskeletal disease MAP2K1 [HSA:5604] [KO:K04368]
H02633 Beck-Fahrner syndrome ... characteristic craniofacial features. It has been reported that mutations in TET3 cause this disease. TET3 is a methylcytosine dioxygenase that initiates DNA demethylation during early zygote formation, embryogenesis ... Congenital malformation TET3 [HSA:200424] [KO:K24309]
H02643 Lipoyltransferase 1 deficiency Lipoyltransferase 1 deficiency (LIPT1D) is a fatal disease associated with encephalopathy and pulmonary hypertension. Mutations in LIPT1 gene cause this disease. LIPT1 encodes a mitochondrial lipoyltransferase ... Inherited metabolic disorder LIPT1 [HSA:51601] [KO:K10105]
H02644 Alpha-aminoadipic and alpha-ketoadipic aciduria Alpha-aminoadipic and alpha-ketoadipic aciduria (AAKAD) is an autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan degradation. This disease is associated with varying neurological ... Inherited metabolic disorder DHTKD1 [HSA:55526] [KO:K15791]
H02657 Sarcosinemia Sarcosinemia is an autosomal recessive metabolic trait manifested by relatively high concentrations of sarcosine in blood and urine. Sarcosinemia has a varied phenotypic presentation. In rare cases, it ... Inherited metabolic disorder SARDH [HSA:1757] [KO:K00314]
H02658 X-linked congenital hemolytic anemia ... flippase in human erythrocytes. Flippase transports phospholipids from the outer to the inner leaflet of the lipid bilayer and maintains asymmetric distribution of phospholipids in the plasma membrane. Hematologic disease ATP11C [HSA:286410] [KO:K26934]
H02662 Sulfide quinone oxidoreductase deficiency Sulfide quinone oxidoreductase deficiency (SQORD) is a neurological disorder like Leigh syndrome [DS:H01354]. It is characterized by coma with lactic acidosis, and lesions in the basal ganglia. It has ... Inherited metabolic disorder SQOR [HSA:58472] [KO:K22470]
H02665 Reticulate acropigmentation of Kitamura ... features are reticulate and sharply demarcated brown macules, affecting the dorsa of the hands and feet. Recently, mutations in ADAM10, encoding a zinc metalloprotease, were identified in patients with RAK. Skin disease ADAM10 [HSA:102] [KO:K06704]
H02668 Heyn-Sproul-Jackson syndrome Heyn-Sproul-Jackson syndrome (HESJAS) is characterized by microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. It has been reported that gain-of-function mutations in DNMT3A cause ... Congenital malformation DNMT3A [HSA:1788] [KO:K17398]
H02671 Sodium-dependent multivitamin transporter deficiency Sodium-dependent multivitamin transporter deficiency (SMVTD) is a recently described inherited metabolic disorder with so far a broad phenotypic spectrum ranging from feeding problems, failure to thrive ... Inherited metabolic disorder SLC5A6 [HSA:8884] [KO:K14386]
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 ... mutations in TMEM260 cause this disease. TMEM260 encodes a novel protein-specific O-mannosyltransferase that selectively glycosylates a common protein domain shared among cMET, RON, and plexin receptors. Inherited metabolic disorder TMEM260 [HSA:54916] [KO:K27244]
H02696 Early-onset epilepsy ... childhood, and it is especially common in the first 2 years after birth. Seizures in early life mostly result from structural or metabolic disorders in the brain. Several genetic causes have been reported. 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]
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]
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]
H02705 Neurodevelopmental disorder with glutamatergic synapse dysfunction ... neurotransmitter in the central nervous system (CNS) and mediates its actions via activation of both ionotropic and metabotropic receptor families. Recent studies have shown that rare mutations in glutamate receptors ... 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]
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]
H02727 Triokinase and FMN cyclase deficiency syndrome ... and fatal cardiomyopathy with lactic acidosis. TKFC encodes a bifunctional enzyme involved in fructose metabolism through its glyceraldehyde kinase activity and in the generation of riboflavin cyclic 4',5'-phosphate ... Inherited metabolic disorder TKFC [HSA:26007] [KO:K00863]
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 		Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA), also known as regressive spondylometaphyseal dysplasia, is an autosomal recessive disorder characterized by both short stature and other ... Congenital malformation LBR [HSA:3930] [KO:K19532]
H02735 Diaphyseal medullary stenosis with malignant fibrous histiocytoma ... myopathy, and bone cancer. It has been reported that mutations in MTAP cause this syndrome. MTAP encodes methylthioadenosine phosphorylase that plays a crucial role in the salvage pathway for adenine and methionine ... Congenital malformation MTAP [HSA:4507] [KO:K00772]
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]
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]
H02751 Orthostatic hypotension ... fully delineated. It has been reported that mutations in genes encoding proteins of the catecholamine metabolism are associated with orthostatic hypotension. Catecholamines play an essential role in regulation ... Cardiovascular disease (ORTHYP1) DBH [HSA:1621] [KO:K00503]
(ORTHYP2) CYB561 [HSA:1534] [KO:K08360]
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]
H02759 Suleiman-El-Hattab syndrome ... homozygous loss-of-function mutations in TASP1 cause this syndrome. TASP1 encodes an activator of the histone methyltransferases KMT2A and KMT2D, which are essential for histone methylation and transcription regulation Congenital malformation TASP1 [HSA:55617] [KO:K08657]
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]
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