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Entry	Name	Description	Category	Gene
H01259	Giant axonal neuropathy	... neuropathy-2 (GAN2) is an autosomal dominant disorder, caused by mutations in DCAF8. GAN2 is characterized by distal sensory impairment and lower extremity muscle weakness and atrophy after the second decade.	Neurodegenerative disease	(GAN1) GAN [HSA:8139] [KO:K10453] (GAN2) DCAF8 [HSA:50717] [KO:K11804]
H01260	Glomerulopathy with fibronectin deposits	... microscopic hematuria, and hypertension that lead to end-stage renal failure in the second to sixth decade of life. It has been reported that mutations in FN1, which encodes fibronectin, are the cause of ...	Urinary system disease	FN1 [HSA:2335] [KO:K05717]
H01279	Isobutyryl-CoA dehydrogenase deficiency	... dehydrogenase (IBD) deficiency is a rare inborn error of valine metabolism. The patients present dilated cardiomyopathy, anemia, and carnitine deficiency. Mutations in the ACAD8 gene cause IBD deficiency.	Inherited metabolic disorder	ACAD8 [HSA:27034] [KO:K11538]
H01393	Van Maldergem syndrome Cerebro-facio-articular syndrome	... hypotonia, distinctive combination of minor facial anomalies, finger camptodactyly, and joint hyperlaxity. Biallelic mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 result in VMS.	Congenital malformation	(VMLDS1) DCHS1 [HSA:8642] [KO:K16507] (VMLDS2) FAT4 [HSA:79633] [KO:K16669]
H01400	Secondary hyperammonemia	Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia in the blood, and may result in irreversible brain damage if not treated early and thoroughly. Hyperammonemia can be ...	Inherited metabolic disorder	MMUT [HSA:4594] [KO:K01847] PCCA [HSA:5095] [KO:K01965] PCCB [HSA:5096] [KO:K01966] IVD [HSA:3712] [KO:K00253] ACADM [HSA:34] [KO:K00249] ETFDH [HSA:2110] [KO:K00311] ETFA [HSA:2108] [KO:K03522] ETFB [HSA:2109] [KO:K03521] CPT2 [HSA:1376] [KO:K08766] SLC25A20 [HSA:788] [KO:K15109] SLC7A7 [HSA:9056] [KO:K13867] ALDH18A1 [HSA:5832] [KO:K12657] PC [HSA:5091] [KO:K01958] OAT [HSA:4942] [KO:K00819] CA5A [HSA:763] [KO:K01672] GLUD1 [HSA:2746] [KO:K00261] TMEM70 [HSA:54968] [KO:K17966] GLUL [HSA:2752] [KO:K01915]
H01467	Primary biliary cholangitis Primary biliary cirrhosis	... and potential cirrhosis. Patients are usually middle-aged women and presents in the fifth or sixth decade of life. The most common symptoms are pruritus. It is not clear what causes PBC. It may be relate ...	Digestive system disease
H01476	Behcet disease Behcet syndrome	... a particular genetic background. The positive association of HLA-B51 was identified more than four decades ago, and has been confirmed in multiple populations. Recent genome-wide association study identifies ...	Immune system disease; Skin disease
H01480	Idiopathic macular hole Retinal perforations	Idiopathic macular hole is a common cause of visual impairment in people in their sixth decade or older, with a higher prevalence in females. Although existing theories of macular hole pathogenesis are ...	Nervous system disease
H01491	Neuromyelitis optica Devic disease	... barrier. Anti-AQP4 antibody is sensitive and highly specific serum markers of autoimmune NMO. For many decades, NMO was considered to be a subtype of multiple sclerosis (MS), but prognosis and optimal treatments ...	Immune system disease
H01570	Autosomal dominant striatal degeneration	... movement disorder affecting the striatal part of the basal ganglia, with onset in the fourth to fifth decade. The main clinical features are mild, slowly progressive dysarthria and hypokinesia without any ...	Nervous system disease	(ADSD1) PDE8B [HSA:8622] [KO:K18437] (ADSD2) PDE10A [HSA:10846] [KO:K18438]
H01585	Autoimmune hemolytic anemia	... temperature of reaction with autologous erythrocytes, in warm (wAIHA), cold (cold agglutinin disease; CAD), and mixed forms, although atypical cases of difficult diagnostic classification are reported with ...	Hematologic disease
H01588	Cluster headache	... male patients (2.5:1 to 4.3:1 male to female) with an average age of onset in the third or fourth decade. The pathophysiology of CH is not fully understood, but may include a genetic component. Treatment ...	Nervous system disease
H01632	Angina pectoris	... coronary syndrome. Among the causes of angina pectoris, the most common is coronary artery disease (CAD). At the cellular level, angina pectoris is a result of increased myocardial oxygen demand or decreased ...	Cardiovascular disease
H01651	Macular edema	... and is the leading cause of visual loss. New treatments for macular edema have emerged over the past decade, the most recent and efficacious of which have involved blockage of vascular endothelial growth ...	Nervous system disease
H01674	Ankylosing spondylitis Bechterew disease	... functional losses occur during the first 10 years of disease. It usually begins in the second or third decade of life, preferentially in HLA-B27-positive Caucasian males. Its etiology and pathogenesis are not ...	Musculoskeletal disease	HLA-B [HSA:3106] [KO:K06751]
H01681	Acute pancreatitis	... Organ failure that develops during the early phase is set in motion by the activation of cytokine cascades resulting in systemic inflammatory response syndrome (SIRS). Although effective therapies for acute ...	Digestive system disease
H01713	Diffuse panbronchiolitis	... candidate region. And it was found that their polymorphisms were associated with DPB. Over the past two decades, DPB has shifted from being a near-fatal to a treatable disease. A significant improvement in the ...	Respiratory system disease
H01714	Chronic obstructive pulmonary disease (COPD) Emphysema	... gases and with a number of comorbid conditions. The onset of COPD generally occurs in the 6th to 8th decades of life. Early onset COPD is defined as disease onset before the age of 50 years, irrespective ...	Respiratory system disease	SERPINA1 [HSA:5265] [KO:K03984] HMOX1 [HSA:3162] [KO:K00510] MMP1 [HSA:4312] [KO:K01388]
H01733	Werner syndrome	... increased risk of rare non-epithelial cancers, especially sarcomas. Death usually occurs in the fourth decade from cardiovascular compromise or cancer. WS is caused by mutations of WRN gene, that play a major ...	Endocrine and metabolic disease	WRN [HSA:7486] [KO:K10900]
H01742	Coronary artery disease	Coronary artery disease (CAD) is one of the leading causes of death globally. CAD is coupled to a pathogenic process in which lipids and lipoproteins accumulate in the subendothelial intimal layer of the ...	Cardiovascular disease	(ADCAD1) MEF2A [HSA:4205] [KO:K09260] (ADCAD2) LRP6 [HSA:4040] [KO:K03068] (CHDS1) CX3CR1 [HSA:1524] [KO:K04192] (CHDS5) KALRN [HSA:8997] [KO:K15048] (CHDS6) MMP3 [HSA:4314] [KO:K01394] (CHDS7) CD36 [HSA:948] [KO:K06259]
H01775	PCDH19-related epilepsy syndrome Early infantile epileptic encephalopathy 9 Epilepsy with mental retardation limited to females	... suggesting an unusual X-linked inheritance with selective involvement of females. Mutations in the X-chromosome-encoded protocadherin 19 (PCDH19) cause this disorder, and are confirmatory for the diagnosis.	Nervous system disease	PCDH19 [HSA:57526] [KO:K16499]
H01810	Congenital myopathy	... disease, centronuclear myopathy, and congenital fiber type disproportion were reported. Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy ...	Nervous system disease; Musculoskeletal disease	(CMYP1A/1B) RYR1 [HSA:6261] [KO:K04961] (CMYP2A/2B/2C) ACTA1 [HSA:58] [KO:K10354] (CMYP3) SELENON [HSA:57190] [KO:K19874] (CMYP4) TPM3 [HSA:7170] [KO:K09290] (CMYP5) TTN [HSA:7273] [KO:K12567] (CMYP6) MYH2 [HSA:4620] [KO:K24220] (CMYP7) MYH7 [HSA:4625] [KO:K17751] (CMYP8) ACTN2 [HSA:88] [KO:K21073] (CMYP9) FXR1 [HSA:8087] [KO:K15516] (CMYP10A/10B) MEGF10 [HSA:84466] [KO:K24068] (CMYP11) HACD1 [HSA:9200] [KO:K10703] (CMYP12) CNTN1 [HSA:1272] [KO:K06759] (CMYP13) STAC3 [HSA:246329] [KO:K23713] (CMYP14) MYL1 [HSA:4632] [KO:K05738] (CMYP15) TNNC2 [HSA:7125] [KO:K12042] (CMYP16) MYBPC1 [HSA:4604] [KO:K12557] (CMYP17) MYOD1 [HSA:4654] [KO:K09064] (CMYP18) CACNA1S [HSA:779] [KO:K04857] (CMYP19) PAX7 [HSA:5081] [KO:K09381] (CMYP20) RYR3 [HSA:6263] [KO:K04963] (CMYP21) DNAJB4 [HSA:11080] [KO:K09510] (CMYP22A/22B) SCN4A [HSA:6329] [KO:K04837] (CMYP23) TPM2 [HSA:7169] [KO:K10374] (CMYP24) MYPN [HSA:84665] [KO:K22028] (CMND) SPTBN4 [HSA:57731] [KO:K06115]
H01899	Dyslexia	... risk factors as well as their interplay. Several candidate genes have been identified in the past decade. However, effects of individual genetic variations on dyslexia-associated deficits are only moderate ...	Mental and behavioural disorder	(DYX1) DNAAF4 [HSA:161582] [KO:K19758] (DYX2) AAVR [HSA:9856] [KO:K24403]
H01906	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	... the proximal and distal muscles of all four limbs. Pulmonary involvement are noted during the second decade of life, and progressive dyspnea and restrictive impairment of lung function were linked to pulmonary ...	Congenital malformation	FAM111B [HSA:374393] [KO:K24275]
H01963	Duchenne muscular dystrophy	... by mutations in the DMD gene, which codes for dystrophin. Patients suffer from progressive muscle weakness, are wheelchair-bound before the age of 12 and often die before the third decade of their life.	Nervous system disease; Musculoskeletal disease	DMD [HSA:1756] [KO:K10366]
H01980	SCAD deficiency Short-chain acyl-CoA dehydrogenase deficiency ACADS deficiency	Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare mitochondrial fatty acid oxidation disorder, caused by mutations in the ACADS gene. The clinical features range from hypoglycemia and vomiting ...	Inherited metabolic disorder, Mitochondrial disease	ACADS [HSA:35] [KO:K00248]
H01986	Legius syndrome	... cafe-au-lait spots and macrocephaly are present. LS is caused by germline loss-of-function SPRED1 mutations. SPRED1 is a negative regulator of the MAPK signalling cascade by suppressing Raf phosphorylation.	Congenital malformation	SPRED1 [HSA:161742] [KO:K04703]
H02012	Medullary cystic kidney disease	... have been identified as causative genes. The timing of the onset of ESKD is during the fifth to sixth decades of life in MCKD1 and about the third decade in MCKD2. Recently, new terminology using the term ...	Congenital malformation	(MCKD1) MUC1 [HSA:4582] [KO:K06568] (MCKD2) UMOD [HSA:7369] [KO:K18274]
H02075	Enhanced S-cone syndrome	... is characterized by night blindness, cystoid maculopathy and degenerative changes of the vascular arcades. Mutations in the NR2E3 gene, which encodes a photoreceptor cell-specific nuclear receptor, cause ...	Nervous system disease	NR2E3 [HSA:10002] [KO:K08546]
H02085	Acyl-CoA dehydrogenase 9 deficiency	Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is one of the mitochondrial fatty-acid oxidation disorders that has recently been described. ACAD9 is a mitochondrial protein involved in oxidative phosphorylation ...	Inherited metabolic disorder	ACAD9 [HSA:28976] [KO:K15980]
H02107	Bietti crystalline corneoretinal dystrophy	... atrophy of the retinal pigment epithelium (RPE), choriocapillaris, and photoreceptors. BCD usually occurs in the second or third decade of life. CYP4V2 has been identified as the causative gene for BCD.	Nervous system disease	CYP4V2 [HSA:285440] [KO:K07427]
H02140	Boucher-Neuhauser syndrome	... chorioretinal dystrophy. Gait ataxia in BNS has been typically reported between the first and third decades of life; later ages of onset are rare. BNS has recently been linked to autosomal-recessive mutations ...	Nervous system disease	PNPLA6 [HSA:10908] [KO:K14676]
H02145	Calcium oxalate nephrolithiasis Calcium oxalate urolithiasis	... a major health problem and its prevalence has significantly increased among children over the last decades. It is a multifactorial disease involving environmental, physiological, and genetic factors. Nephrolithiasis ...	Urinary system disease	(CAON1) SLC26A1 [HSA:10861] [KO:K14700] (CAON2) OXGR1 [HSA:27199] [KO:K08419]
H02192	Benign recurrent intrahepatic cholestasis	... infancy or early childhood and often leads to liver cirrhosis, BRIC typically appears before the second decade of life and has a more benign recurrent pattern. Occasionally BRIC will progress to the more severe ...	Digestive system disease	(BRIC1) ATP8B1 [HSA:5205] [KO:K01530] (BRIC2) ABCB11 [HSA:8647] [KO:K05664]
H02275	Batten disease Spielmeyer-Vogt disease Juvenile neuronal ceroid lipofuscinoses	... neurodegeneration, robbing children of motor skills, speech and cognition, and eventually leading to death in the second or third decade of life. Loss-of-function mutations in CLN3 are responsible for Batten disease.	Inherited metabolic disorder, Lysosomal disease	CLN3 [HSA:1201] [KO:K12389]
H02295	Adermatoglyphia	... autosomal dominant condition characterized by lack of palmoplantar epidermal ridges. Mutations in SMARCAD1 was identified in patients. It seems that haploinsufficiency for the skin-specific isoform of SMARCAD1 ...	Congenital malformation	SMARCAD1 [HSA:56916] [KO:K14439]
H02296	Basan syndrome Ectodermal dysplasia absent dermatoglyphics	... fingerprints. Other phenotypes include contractures of digits, hypohidrosis, palmoplantar keratoderma, and nail dystrophy. A mutation in the SMARCAD1 gene was recently reported to cause Basan syndrome.	Congenital malformation	SMARCAD1 [HSA:56916] [KO:K14439]
H02474	Blepharocheilodontic syndrome	... characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. It has been reported that BCDS is caused by mutations in CDH1 and CTNND1. They are members of the cadherin-catenin complex.	Congenital malformation	(BCDS1) CDH1 [HSA:999] [KO:K05689] (BCDS2) CTNND1 [HSA:1500] [KO:K05690]
H02508	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome	... syndrome (ACOGS) is a multisystemic developmental disorder caused by mutations in CDH2. CDH2 encodes N-cadherin, whose essential roles in neural development include neuronal migration and axon pathfinding	Congenital malformation	CDH2 [HSA:1000] [KO:K06736]
H02632	PP2A-related neurodevelopmental disorder	... cellular signalling and physiology, including in brain function and development. It has been known for decades that PP2A dysregulation results in neurodegenerative disorders in the aging brain. Recently, It ...	Congenital malformation	(NEDLBA) PPP2CA [HSA:5515] [KO:K04382] (MRD35) PPP2R5D [HSA:5528] [KO:K11584] (MRD36) PPP2R1A [HSA:5518] [KO:K03456]

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