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Entry Name Description Category Pathway Gene
H00578 Epstein syndrome ... in MYH9, the nonmuscle myosin heavy chain. It has been suggested that renoprotective treatment by renin-angiotensin system blockade is effective in reducing proteinuria in patients with MYH9 nephropathy Cardiovascular disease MYH9 [HSA:4627] [KO:K10352]
H00590 Congenital muscular dystrophies (CMD/MDC) ... membrane or extracellular matrix of the skeletal muscle fibers, which include collagen 6 genes, laminin alpha2 chain and integrin alpha7; defects in genes encoding for putative or demonstrated glycosyltransferases ... Nervous system disease; Musculoskeletal disease (ITGA7-deficient CMD) ITGA7 [HSA:3679] [KO:K06583]
(LMNA-deficient CMD) LMNA [HSA:4000] [KO:K12641]
(MDCDC) TRIP4 [HSA:9325] [KO:K23398]
(MDCMC) CHKB [HSA:1120] [KO:K14156]
(MDCCAID) INPP5K [HSA:51763] [KO:K24222]
H00594 Distal myopathy ... skeletal muscles. Clinical presentation is characterized by progressive muscular weakness and atrophy beginning in the hands, forearm, lower legs or feet. Currently almost 20 different entities of distal muscular ... Nervous system disease; Musculoskeletal disease (MMD1,DMAT) DYSF [HSA:8291] [KO:K18261]
(MMD3) ANO5 [HSA:203859] [KO:K19480]
(NM) GNE [HSA:10020] [KO:K12409]
(DMRV) SQSTM1 [HSA:8878] [KO:K14381]
(WDM) TIA1 [HSA:7072] [KO:K13201]
(TMD) TTN [HSA:7273] [KO:K12567]
(MPD1) MYH7 [HSA:4625] [KO:K17751]
(MPD4) FLNC [HSA:2318] [KO:K27393]
(MPD5) ADSS1 [HSA:122622] [KO:K01939]
(MPD6) ACTN2 [HSA:88] [KO:K21073]
(MPD7) SMPX [HSA:23676] [KO:K24209]
(MPDT) CAV3 [HSA:859] [KO:K12959]
H00595 Myofibrillar myopathies ... more pronounced than proximal weakness. All disease proteins identified to date are involved in maintaining the structural integrity of the Z-disk. The pathology includes accumulations of these proteins irrespective ... Nervous system disease; Musculoskeletal disease (MFM1) DES [HSA:1674] [KO:K07610]
(MFM2) CRYAB [HSA:1410] [KO:K09542]
(MFM3) MYOT [HSA:9499] [KO:K19875]
(MFM4) LDB3 [HSA:11155] [KO:K19867]
(MFM5) FLNC [HSA:2318] [KO:K27393]
(MFM6) BAG3 [HSA:9531] [KO:K09557]
(MFM7) KY [HSA:339855] [KO:K24456]
(MFM8) PYROXD1 [HSA:79912] [KO:K24426]
(MFM9) TTN [HSA:7273] [KO:K12567]
(MFM10) SVIL [HSA:6840] [KO:K10369]
(MFM11) UNC45B [HSA:146862] [KO:K21991]
(MFM12) MYL2 [HSA:4633] [KO:K10351]
H00602 Glucocorticoid-remediable aldosteronism (GRA)
Familial hyperaldosteronism type I 		... hypoaldosteronism type I, is an autosomal dominant disease that causes hypertension, hypokalemia, decreased plasma renin activity and increased aldosterone levels. GRA is caused by a chimeric gene that links the 11 [beta]-hydroxylase ... Endocrine and metabolic disease CYP11B1 [HSA:1584] [KO:K00497]
CYP11B2 [HSA:1585] [KO:K07433]
H00603 Hypertension exacerbated in pregnancy ... is present in nonpregnant patients and may be severe, but the characteristic feature is marked worsening during pregnancy. The proposed explanation is that the mutation renders the receptor sensitive to ... Cardiovascular disease NR3C2 [HSA:4306] [KO:K08555]
H00607 46,XY gonadal dysgenesis ... normal female to genital ambiguity to an undervirilized male. Mutations involving the testis-determining gene SRY, and other genes involved in sex determination, such as the genes WT1, DHH, NR5A1, SOX9 ... Reproductive system disease (SRXY1) SRY [HSA:6736] [KO:K09266]
(SRXY2) NR0B1 [HSA:190] [KO:K08562]
(SRXY3) NR5A1 [HSA:2516] [KO:K08560]
(SRXY5) CBX2 [HSA:84733] [KO:K11451]
(SRXY6) MAP3K1 [HSA:4214] [KO:K04416]
(SRXY7) DHH [HSA:50846] [KO:K11990]
(SRXY8) AKR1C2 [HSA:1646] [KO:K00089]
(SRXY8) AKR1C4 [HSA:1109] [KO:K00037]
(SRXY9) ZFPM2 [HSA:23414] [KO:K17442]
(SRXY11) DHX37 [HSA:57647] [KO:K14780]
(FS/DDS) WT1 [HSA:7490] [KO:K09234]
H00621 Alopecia neurologic defects and endocrinopathy syndrome
ANE syndrome 		... signs including a varied amount of hair loss, mental retardation, progressive loss of motor ability beginning in the second decade of life, hypogonadism, central adrenal insufficiency, short stature, microcephaly ... Ribosomopathy RBM28 [HSA:55131] [KO:K14573]
H00652 Solitary median maxillary central incisor syndrome ... the presence of a central incisor with symmetric crown form positioned at the maxillary mid-axis. Missense mutations in the SHH, a key player in ventral axis patterning, are associated with the disorder. Congenital malformation SHH [HSA:6469] [KO:K11988]
H00657 Reducing body myopathy ... intracytoplasmic aggregates in histological muscle sections which exert a reducing activity on nitro-blue tetrazolium (NBT) staining. The causative gene for RBM is FHL1 encoding four and a half LIM domains. Nervous system disease; Musculoskeletal disease FHL1 [HSA:2273] [KO:K14365]
H00681 Acne inversa
Hidradenitis suppurativa 		Acne inversa (AI), also known as hidradenitis suppurativa, is a chronic inflammatory disorder of hair follicles involving the apocrine gland-bearing areas of the body. Its characteristic features include ... Skin disease (ACNINV1) NCSTN [HSA:23385] [KO:K06171]
(ACNINV2) PSENEN [HSA:55851] [KO:K06170]
(ACNINV3) PSEN1 [HSA:5663] [KO:K04505]
H00689 Delayed sleep phase disorder ... single nucleotide polymorphism (Ala129Thr) in Arylalkylamine N-acetyltransferase (AANAT), a rate-limiting enzyme in melatonin synthesis, has been identified in patients with delayed sleep phase disorder. Nervous system disease CRY1 [HSA:1407] [KO:K02295]
H00705 Myotonia congenita ... mutations in CLCN1, the gene coding for the main skeletal muscle chloride channel ClC-1. Impaired functioning of the ClC-1 leads to an increase in sarcolemmal excitability that clinically presents as delayed ... Nervous system disease; Musculoskeletal disease CLCN1 [HSA:1180] [KO:K05010]
H00722 Epidermolytic palmoplantar keratoderma ... autosomal dominant dermatosis that presents within the first year of life. Patients have diffuse thickening of the skin on the palms and soles with yellow discoloration and erythematous margins. Mutations ... Congenital malformation (EPPK1) KRT9 [HSA:3857] [KO:K07604]
(EPPK2) KRT1 [HSA:3848] [KO:K07605]
H00728 Brugada syndrome ... and an increased risk of sudden cardiac death. Diagnosis is based on clinical findings. Mutations in nine genes (SCN5A, GPD1L, CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, HCN4, and KCND3) are known to cause BRS ... Cardiovascular disease (BRGDA1) SCN5A [HSA:6331] [KO:K04838]
(BRGDA2) GPD1L [HSA:23171] [KO:K00006]
(BRGDA3) CACNA1C [HSA:775] [KO:K04850]
(BRGDA4) CACNB2 [HSA:783] [KO:K04863]
(BRGDA5) SCN1B [HSA:6324] [KO:K04845]
(BRGDA6) KCNE3 [HSA:10008] [KO:K04897]
(BRGDA7) SCN3B [HSA:55800] [KO:K04847]
(BRGDA8) HCN4 [HSA:10021] [KO:K04957]
(BRGDA9) KCND3 [HSA:3752] [KO:K04893]
H00754 3-Methylglutaconic aciduria 3-Methylglutaconic aciduria (MGCA) is a group of metabolic disorders characterized by increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. Nine distinct forms of MGCA have been recognized. Inherited metabolic disorder (MGCA1) AUH [HSA:549] [KO:K05607]
(MGCA2) TAFAZZIN [HSA:6901] [KO:K13511]
(MGCA3) OPA3 [HSA:80207] [KO:K23166]
(MGCA5) DNAJC19 [HSA:131118] [KO:K09539]
(MGCA6) SERAC1 [HSA:84947] [KO:K23504]
(MGCA7A/7B) CLPB [HSA:81570] [KO:K03695]
(MGCA8) HTRA2 [HSA:27429] [KO:K08669]
(MGCA9) TIMM50 [HSA:92609] [KO:K17496]
H00757 Dyggve-Melchior-Clausen disease ... retardation. The patients have a shortened trunk, striking barrel-shaped thorax, rhizomelic limb shortening, and distal deformities. A clinical entity similar to DMC but without mental retardation is called ... Congenital malformation DYM [HSA:54808] [KO:K23951]
H00771 Inherited erythromelalgia
Primary erythromelalgia 		Inherited erythromelalgia (IEM) is characterized by intense episodic burning pain associated with redness and warmth of the affected extremities and in many instances occurs as an autosomal dominant trait ... Skin disease SCN9A [HSA:6335] [KO:K04841]
H00789 Keratoconus Keratoconus (KTCN) is a frequent corneal ectasia characterized by localized corneal thinning and protrusion. Its exact cause is still unknown and is probably multifactorial. Nervous system disease (KTCN1) VSX1 [HSA:30813] [KO:K09335]
(KTCN9) TUBA3D [HSA:113457] [KO:K07374]
H00810 Progressive myoclonic epilepsy ... other neurologic deficits. PME is a disease that afflicts previously normal children with ever-worsening and soon-intractable myoclonus and epilepsy, usually associated with neurodegeneration, and eventual ... Nervous system disease (EPM1A) CSTB [HSA:1476] [KO:K13907]
(EPM1B) PRICKLE1 [HSA:144165] [KO:K04511]
(EPM2A) EPM2A [HSA:7957] [KO:K14165]
(EPM2B) NHLRC1 [HSA:378884] [KO:K10602]
(EPM3) KCTD7 [HSA:154881] [KO:K21917]
(EPM4) SCARB2 [HSA:950] [KO:K12384]
(EPM6) GOSR2 [HSA:9570] [KO:K08496]
(EPM7) KCNC1 [HSA:3746] [KO:K04887]
(EPM8) CERS1 [HSA:10715] [KO:K04710]
(EPM9) LMNB2 [HSA:84823] [KO:K07611]
(EPM10) PRDM8 [HSA:56978] [KO:K20797]
(EPM11) SEMA6B [HSA:10501] [KO:K06842]
(EPM12) SLC7A6OS [HSA:84138]
H00813 Laryngo onycho cutaneous syndrome ... erosions at elbows, knees and digits and formation of granulation tissue of the larynx and conjunctiva. The multisystem disorder is caused by deficient laminin synthesis in epithelial basement membrane. Congenital malformation LAMA3 [HSA:3909] [KO:K06240]
H00826 Blepharophimosis-ptosis-epicanthus inversus syndrome ... malformation such as blepharophimosis, ptosis, epicanthus inversus and telecanthus. The horizontal shortening of the palpebral aperture can lead to amblyopia. It is caused by mutations in FOXL2 gene that is ... Congenital malformation FOXL2 [HSA:668] [KO:K09405]
H00836 GLUT1 deficiency syndrome
Glucose transport defect of the blood-brain barrier 		... fluid (CSF) glucose levels termed hypoglycorrhachia. Affected individuals present with mental retardation and learning disabilities; also common are ataxia, dystonia, seizures, and acquired microcephaly. Nervous system disease GLUT1 [HSA:6513] [KO:K07299]
H00849 Cerebral creatine deficiency syndrome ... creatine deficiency syndrome (CCDS1), guanidinoacetate methyltransferase deficiency (CCDS2), and arginine:glycine amidinotransferase deficiency (CCDS3). Intellectual disability and seizures are common to ... Inherited metabolic disorder (CCDS1) SLC6A8 [HSA:6535] [KO:K05041]
(CCDS2) GAMT [HSA:2593] [KO:K00542]
(CCDS3) GATM [HSA:2628] [KO:K00613]
H00884 Familial progressive hyperpigmentation ... genodermatosis, in which patches of hyperpigmentation in the skin are present at birth. Increased number and average size of melanin granules in cells of pigmented area are the features of this disease. Skin disease KITLG [HSA:4254] [KO:K05461]
H00887 Lipoprotein glomerulopathy ... disturbed remnant lipoprotein catabolism and intravascular glomerular deposition of lipoprotein-containing thrombi. Patients usually present with proteinuria and hypertension, microhematuria is rare, and ... Inherited metabolic disorder APOE [HSA:348] [KO:K04524]
H00901 Cystinuria ... inherited disorder of re-absorptive transport of cystine and the dibasic amino acids ornithine, arginine and lysine in the proximal tubule and small intestine. Diagnostically, urinary levels of dibasic ... Inherited metabolic disorder SLC3A1 [HSA:6519] [KO:K14210]
SLC7A9 [HSA:11136] [KO:K13868]
H00945 Factor XIII deficiency ... severity of the bleeding tendency varies from benign symptoms like excessive bruising to life threatening bleeding emergencies such as intracranial hemorrhages. In plasma, FXIII circulates as a pro-transglutaminase ... Hematologic disease F13A1 [HSA:2162] [KO:K03917]
F13B [HSA:2165] [KO:K03906]
H00960 Fuchs corneal dystrophy
Fuchs endothelial corneal dystrophy 		... endothelial corneal dystrophy (FECD) is characterized by progressive loss of corneal endothelial cells, thickening of Descemet membrane, and deposition of extracellular matrix in the form of guttae. As a result ... Nervous system disease (FECD1) COL8A2 [HSA:1296] [KO:K23455]
(FECD3) TCF4 [HSA:6925] [KO:K15603]
(FECD4) SLC4A11 [HSA:83959] [KO:K13862]
(FECD6) ZEB1 [HSA:6935] [KO:K09299]
(FECD8) AGBL1 [HSA:123624] [KO:K23436]
H00961 Posterior polymorphous corneal dystrophy ... primarily affects the corneal endothelium to produce epithelial-like transformation and irregular thickening of DM due to the deposition of an abnormal collagenous layer. Most cases are static, but occasionally ... Nervous system disease (PPCD1) OVOL2 [HSA:58495] [KO:K09216]
(PPCD2) COL8A2 [HSA:1296] [KO:K23455]
(PPCD3) ZEB1 [HSA:6935] [KO:K09299]
(PPCD4) GRHL2 [HSA:79977] [KO:K09275]
H00962 RIDDLE syndrome RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties) syndrome is an immunodeficiency disorder that primarily manifests as an immunoglobulin deficiency. The underlying ... Immune system disease RNF168 [HSA:165918] [KO:K20779]
H00964 Poor metabolism of thiopurines ... responsible for the metabolism of thiopurine drugs including azathioprine, mercaptopurine, and thioguanine. Recent studies identified germline NUDT15 variation as another critical determinant of thiopurine ... Inherited metabolic disorder (THPM1) TPMT [HSA:7172] [KO:K00569]
(THPM2) NUDT15 [HSA:55270] [KO:K03574]
H00974 Blue cone monochromacy ... characterized by the absence of both red and green cone sensitivities. Vision is derived from the remaining blue cones and rod photoreceptors. Patients present with reduced visual acuity, pendular nystagmus ... Nervous system disease OPN1LW [HSA:5956] [KO:K04251]
OPN1MW [HSA:2652] [KO:K04251]
H00976 Colorblindness ... reduced dimension of color vision in which one of the three basic color mechanisms is absent or not functioning. Anomalous trichromacy is the milder form of color vision deficiency, with ability to discriminate ... Nervous system disease (CBP) OPN1LW [HSA:5956] [KO:K04251]
(CBD) OPN1MW [HSA:2652] [KO:K04251]
(CBT) OPN1SW [HSA:611] [KO:K04252]
H00979 Sacral defect with anterior meningocele
Caudal regression syndrome 		Sacral defect with anterior meningocele (SDAM), also known as caudal regression syndrome, is a rare malformation that represents a spectrum of caudal anomalies. Clinical findings include varying degrees ... Congenital malformation VANGL1 [HSA:81839] [KO:K04510]
H00992 Seckel syndrome Seckel syndrome is a recessively inherited dwarfism characterized by intrauterine growth retardation, proportionate postnatal dwarfism, severe microcephaly, micrognathia, and 'bird-headed' profile. Mental ... Congenital malformation (SCKL1) ATR [HSA:545] [KO:K06640]
(SCKL2) RBBP8 [HSA:5932] [KO:K20773]
(SCKL4) CENPJ [HSA:55835] [KO:K11502]
(SCKL5) CEP152 [HSA:22995] [KO:K16728]
(SCKL6) CEP63 [HSA:80254] [KO:K16763]
(SCKL7) NIN [HSA:51199] [KO:K16476]
(SCKL8) DNA2 [HSA:1763] [KO:K10742]
(SCKL9) TRAIP [HSA:10293] [KO:K11985]
(SCKL10) NSMCE2 [HSA:286053] [KO:K22756]
(SCKL11) CEP295 [HSA:85459] [KO:K26251]
H01004 Velocardiofacial syndrome ... neural crest cells. Individuals with VCFS are reported to have distinctive dysmorphology, congenital heart disease, learning disabilities, and high rates of psychiatric disorder, especially schizophrenia. Chromosomal abnormality TBX1 [HSA:6899] [KO:K10175]
DGCR2 [HSA:9993]
DGCR6 [HSA:8214]
DGCR8 [HSA:54487] [KO:K18419]
ESS2 [HSA:8220] [KO:K13118]
H01014 Sparganosis Human sparganosis is caused by the larval form (spargana) of the canine/feline tapeworms belonging to the genus Spirometra. A wide range of amphibians, reptiles, birds, and mammals serve as second intermediate/paratenic ... Parasitic infectious disease
H01028 Argininosuccinic aciduria
Argininosuccinate lyase deficiency 		Arginosuccinicaciduria (ARGINSA) is an autosomal recessive disorder of the urea cycle that is caused by defects in argininosuccinate lyase. ARGINSA is characterized by mental and physical retardation, liver enlargement, ... Inherited metabolic disorder ASL [HSA:435] [KO:K01755]
H01043 Onchocerciasis
River blindness
Robles disease 		... transmitted by Simulium blackflies. The disease is endemic in sub-Saharan African countries, the Arabian peninsula, and small parts of Latin America. Persons with onchocerciasis may develop skin diseases such ... Parasitic infectious disease
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