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Entry Name Description Category Pathway Gene
H01653 Bipolar disorder
Manic depressive illness 		... polygenic risk of bipolar disorder. It is suggested that the dopaminergic system may play a central role in bipolar disorder, although no singular dysfunction of neurotransmitter systems has been identified. Mental and behavioural disorder (MAFD7) XBP1 [HSA:7494] [KO:K09027]
H01680 Chronic pancreatitis ... usually caused by recurrent episodes of pancreatic necro-inflammation, leading to pancreatic atrophy and dysfunction. It manifests clinically as maldigestion, weight loss, abdominal pain and eventually diabetes ... Digestive system disease
H01700 Hypopituitarism ... hypopituitarism is caused by disorders of the pituitary gland itself and may be due to the loss, damage, or dysfunction of pituitary hormone-secreting cells. On the other hand, secondary hypopituitarism is the ... Endocrine and metabolic disease GHRH [HSA:2691] [KO:K05260]
TRH receptor [HSA:7201] [KO:K04282]
H01703 Eating Disorders ... anorexia nervosa is associated with global endocrine dysregulation, including hypothalamic-pituitary axis dysfunction and alterations in adipokine and appetite regulating hormone levels. Bulimia nervosa (BN) ... Mental and behavioural disorder
H01710 Mixed connective tissue disease ... clinical manifestations of this disease are Raynaud's phenomenon, arthralgias, swollen joints, esophageal dysfunction, muscle weakness and fingers sausage-like appearance. The disease can be serious with development ... Immune system disease
H01729 Premature ventricular complexes
Premature ventricular contractions 		... hour Holter monitoring. The clinical presentation may range from asymptomatic to left ventricular (LV) dysfunction with congestive heart failure. In many patients, ectopic ventricular events manifest as asymptomatic ... Cardiovascular disease
H01731 Fragile X tremor/ataxia syndrome ... manifestations of FXTAS are progressive intention tremor, cerebellar gait ataxia, parkinsonism, working memory impairment, and frontal executive dysfunction. FXTAS occurs predominantly in men over age 50 years. Chromosomal abnormality FMR1 [HSA:2332] [KO:K15516]
H01768 Central areolar choroidal dystrophy ... resulting in atrophy of the retinal pigment epithelium and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring ... Nervous system disease (CACD1) GUCY2D [HSA:3000] [KO:K12321]
(CACD2) PRPH2 [HSA:5961] [KO:K17343]
H01804 Isaacs syndrome ... myokymia, pseudomyotonia, muscle cramps and stiffness. It is caused by voltage-gated potassium channel dysfunction and may be inherited or acquired. Recent evidences suggest that autoantibodies against voltage-gated ... Nervous system disease; Musculoskeletal disease
H01821 Spondylometaphyseal dysplasia with cone-rod dystrophy ... visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. Spondylometaphyseal dysplasias (SMDs) are a heterogeneous group of disorders radiologically ... Congenital malformation PCYT1A [HSA:5130] [KO:K00968]
H01826 Mesial temporal lobe epilepsy with hippocampal sclerosis ... intensity on MRI, anterior temporal interictal epileptiform discharges, and additional evidence of temporal dysfunction on functional images and neuro-psychological assessment are demonstrated. Patients with MTLE-HS ... Nervous system disease
H01848 Acquired idiopathic generalized anhidrosis ... rare condition, characterized by generalized absence of sweating without other autonomic and neurologic dysfunction. Most of the cases reported are Japanese. Various pathomechanisms proposed were idiopathic ... Skin disease
H01850 Hartsfield syndrome
Holoprosencephaly, ectrodactyly, and cleft/lip palate 		... ears, radial agenesis, genital anomalies, severe psychomotor retardation, and hypothalamic-pituitary dysfunction have been observed. Dominant or recessive FGFR1 mutations are responsible for Hartsfield ... Congenital malformation FGFR1 [HSA:2260] [KO:K04362]
H01894 Multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe autosomal recessive disease with onset in early infancy. Pathogenic variations in genes encoding several components of the Fe-S cluster biogenesis ... Inherited metabolic disorder, Mitochondrial disease (MMDS1) NFU1 [HSA:27247] [KO:K22074]
(MMDS2) BOLA3 [HSA:388962] [KO:K22075]
(MMDS3) IBA57 [HSA:200205] [KO:K22073]
(MMDS4) ISCA2 [HSA:122961] [KO:K22072]
(MMDS5) ISCA1 [HSA:81689] [KO:K22063]
(MMDS6) PMPCB [HSA:9512] [KO:K17732]
(MMDS7) GCSH [HSA:2653] [KO:K02437]
H01898 PNPLA6-related disorders ... membranes, into its constituent fatty acids and glycerophosphocholine. Other phenotypes caused by NTE dysfunction due to PNPLA6 mutations include anterior hypopituitarism, trichomegaly, alopecia, and facial ... Nervous system disease PNPLA6 [HSA:10908] [KO:K14676]
H01924 Sydenham chorea
Chorea minor 		... rheumatologic complications. The pathogenesis has been considered to be an autoantibody-mediated basal ganglia dysfunction. Anti-inflammatory treatments such as steroids, plasmapheresis and intravenous immunoglobulin ... Immune system disease; Nervous system disease
H01940 Glycogen storage disease type II
Pompe disease 		... disease caused by a deficiency of acid alpha-glucosidase (GAA). This deficiency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage and organ dysfunction. Inherited metabolic disorder, Lysosomal disease GAA [HSA:2548] [KO:K12316]
H01965 Miyoshi muscular dystrophy
Miyoshi myopathy 		... begins with the inability to toe walk. Miyoshi muscular dystrophy 1 (MMD1) is caused by mutations in the dysferlin gene. Recently, anoctamin 5 (ANO5) was also identified, causing Miyoshi muscular dystrophy ... Nervous system disease; Musculoskeletal disease (MMD1) DYSF [HSA:8291] [KO:K18261]
(MMD3) ANO5 [HSA:203859] [KO:K19480]
H01974 Limb-girdle muscular dystrophy 2B Limb-girdle muscular dystrophy type 2B (LGMD2B) is an autosomal recessive phenotype of dysferlinopathies, muscle disorders caused by mutations in the dysferlin gene (DYSF). Clinically, it is characterized ... Nervous system disease; Musculoskeletal disease DYSF [HSA:8291] [KO:K18261]
H01987 Familial dysautonomia
Riley-Day syndrome
Hereditary sensory and autonomic neuropathy type 3 		... sensitivity to pain and temperature, cardiovascular instability, recurrent pneumonias, and gastrointestinal dysfunction. This disorder is primarily confined to individuals of Ashkenazi Jewish descent, and caused ... Nervous system disease ELP1 [HSA:8518] [KO:K11373]
H01999 Pyruvate dehydrogenase E2 deficiency ... the pyruvate dehydrogenase (PDH) complex is a major cause of primary lactic acidosis and neurological dysfunction in infancy. Recently, mutations in DLAT, the gene encoding dihydrolipoamide acetyltransferase ... Inherited metabolic disorder DLAT [HSA:1737] [KO:K00627]
H02003 Pyruvate dehydrogenase E3-binding protein deficiency
Lacticacidemia due to PDX1 deficiency 		... the pyruvate dehydrogenase (PDH) complex is a major cause of primary lactic acidosis and neurological dysfunction in infancy. E3 binding protein (E3BP, formerly Protein X) mediates association between the ... Inherited metabolic disorder PDHX [HSA:8050] [KO:K13997]
H02060 Leptin receptor deficiency Leptin receptor deficiency (LEPRD) is an autosomal recessive condition that causes severe early-onset obesity and pituitary dysfunction. Mutations in LEPR gene encoding leptin receptor cause this disease. Endocrine and metabolic disease LEPR [HSA:3953] [KO:K05062]
H02086 Mitochondrial complex III deficiency ... energy generation, and leads to variable symptoms such as developmental regression, seizures, kidney dysfunction and frequently death. Until now, mutations in nine genes have been known to cause CIII deficiency ... Inherited metabolic disorder, Mitochondrial disease (MC3DN1) BCS1L [HSA:617] [KO:K08900]
(MC3DN2) TTC19 [HSA:54902] [KO:K18169]
(MC3DN3) UQCRB [HSA:7381] [KO:K00417]
(MC3DN4) UQCRQ [HSA:27089] [KO:K00418]
(MC3DN5) UQCRC2 [HSA:7385] [KO:K00415]
(MC3DN6) CYC1 [HSA:1537] [KO:K00413]
(MC3DN7) UQCC2 [HSA:84300] [KO:K17682]
(MC3DN8) LYRM7 [HSA:90624] [KO:K18170]
(MC3DN9) UQCC3 [HSA:790955] [KO:K23165]
(MC3DN10) UQCRFS1 [HSA:7386] [KO:K00411]
(MC3DN11) UQCRH [HSA:7388] [KO:K00416]
H02137 Laurence-Moon syndrome ... gene, encoding neuropathy target esterase (NTE). It is characterised by chorioretinopathy, pituitary dysfunction, childhood onset of ataxia, and spastic paraplegia. Polydactyly and renal disease are absent ... Nervous system disease PNPLA6 [HSA:10908] [KO:K14676]
H02151 Hereditary congenital facial paresis ... paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial ... Congenital malformation (HCFP3) HOXB1 [HSA:3211] [KO:K09301]
H02174 Sudden infant death with dysgenesis of the testes syndrome ... Amish community. Infants with SIDDT appear normal at birth, develop signs of visceral and autonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. SIDDT ... Nervous system disease TSPYL1 [HSA:7259] [KO:K11284]
H02208 Pantothenate kinase-associated neurodegeneration
Hallervorden-Spatz disease
Neurodegeneration with brain iron accumulation 1 		... neurodegenerative disorder associated with iron accumulation in the brain. Clinical features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course. Mutations in PANK2 gene encoding ... Nervous system disease PANK2 [HSA:80025] [KO:K09680]
H02241 Ehlers-Danlos syndrome cardiac valvular type ... addition to the usual skin and joint involvement, patients appear to be at increased risk for cardiac valvular dysfunction. Mutations in the COL1A2 gene that encodes type I collagen can give rise to EDSCV. Congenital malformation (EDSCV) COL1A2 [HSA:1278] [KO:K06236]
H02288 Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (RDGCA) is an autosomal dominant retinal dystrophy with progressive loss of vision. It has been suggested that a missense ... Nervous system disease ITM2B [HSA:9445] [KO:K18264]
H02419 Glycine encephalopathy with normal serum glycine ... encephalopathy [DS:H00191], also known as nonketotic hyperglycinemia (NKH), is characterized by severe neurologic dysfunctions. Recently, some individuals with NKH-like symptoms but lacking the typical elevation of ... Inherited metabolic disorder SLC6A9 [HSA:6536] [KO:K05038]
H02472 Early-onset progressive encephalopathy ... spasticity (PEBAS) is caused by mutations in TRAPPC12. Changes in Golgi morphology, membrane trafficking dysfunction, and mitotic delay were reported in fibroblasts of patients.Early-onset progressive encephalopathy ... Nervous system disease (PEBAS) TRAPPC12 [HSA:51112] [KO:K20309]
(PEERB) TRAPPC2L [HSA:51693] [KO:K20301]
H02486 HELIX syndrome HELIX syndrome is characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. It has been reported that mutations in CLDN10 cause HELIX syndrome. Skin disease CLDN10 [HSA:9071] [KO:K06087]
H02498 Diabetic cardiomyopathy Diabetic cardiomyopathy has been defined as left ventricular dysfunction that occurs among patients with diabetes mellitus independent of a recognized cause such as coronary artery disease or hypertension ... Cardiovascular disease; Endocrine and metabolic disease hsa05415 Diabetic cardiomyopathy
H02499 AL amyloidosis
Immunoglobulin light chain amyloidosis 		... produce misfolded immunoglobulin light chain that deposits in tissues of a variety of organs causing organ dysfunction. Commonly affected organs include the heart, kidney, liver, soft tissues, peripheral and/or ... Endocrine and metabolic disease
H02504 Gastrointestinal ulceration, recurrent, with dysfunctional platelets Gastrointestinal ulceration, recurrent, with dysfunctional platelets (GURDP) is an inherited cytosolic phospholipase A2 (cPLA2) deficiency due to mutations in PLA2G4A. Patients have severe peptic ulcers ... Digestive system disease PLA2G4A [HSA:5321] [KO:K16342]
H02510 Jaberi-Elahi syndrome ... syndrome is an autosomal recessive neurodevelopmental disorder characterized by dystonia, ataxia, cognitive dysfunction, motor neuropathy, and retinal abnormalities. It has been reported that mutations in GTPBP2 ... Nervous system disease GTPBP2 [HSA:54676] [KO:K24888]
H02520 Phosphoenolpyruvate carboxykinase deficiency ... deficiency (PCKD) is a rare disorder of gluconeogenesis presenting with recurrent hypoglycemia, hepatic dysfunction, and lactic acidosis. There are two discrete subcellular isoforms of phosphoenolpyruvate ... Inherited metabolic disorder (PCKDC) PCK1 [HSA:5105] [KO:K01596]
(PCKDM) PCK2 [HSA:5106] [KO:K01596]
H02578 Short stature, microcephaly, and endocrine dysfunction Short stature, microcephaly, and endocrine dysfunction (SSMED) is one of the microcephalic primordial dwarfism characterized by severe postnatal growth failure, microcephaly, gonadal failure, metabolic ... Congenital malformation XRCC4 [HSA:7518] [KO:K10886]
H02594 Congenital facial palsy with ptosis and velopharyngeal dysfunction Congenital facial palsy with ptosis and velopharyngeal dysfunction (FPVEPD) is an autosomal dominant disorder caused by mutations in TUBB6, a gene encoding a class V tubulin. Tubulins form microtubules ... Nervous system disease TUBB6 [HSA:84617] [KO:K07375]
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