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Entry Name Description Category Pathway Gene
H00233 MYH9-related disease
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) 		The autosomal dominant disorders, which are caused by mutation of gene encoding nonmuscle myosin heavy chain 9, May-Hegglin anomaly , Fechtner syndrome(FTNS), and Sebastian syndrome , share the triad of ... Cardiovascular disease MYH9 [HSA:4627] [KO:K10352]
H00243 Hyperkalemic distal renal tubular acidosis (RTA type 4) ... is observed in the context of mineralocorticoid deficiency, systemic lupus erythematosus, and AIDS nephropathy. It is also often seen in a number of tubulointerstitial renal diseases. Finally, a great number ... Urinary system disease (PHA1A) NR3C2 [HSA:4306] [KO:K08555]
(PHA1B1) SCNN1A [HSA:6337] [KO:K04824]
(PHA1B2) SCNN1B [HSA:6338] [KO:K04825]
(PHA1B3) SCNN1G [HSA:6340] [KO:K04827]
(PHA2B) WNK4 [HSA:65266] [KO:K08867]
(PHA2C) WNK1 [HSA:65125] [KO:K08867]
(PHA2D) KLHL3 [HSA:26249] [KO:K10443]
(PHA2E) CUL3 [HSA:8452] [KO:K03869]
H00252 Congenital nephrogenic diabetes insipidus Nephrogenic diabetes insipidus (NDI) is characterized by renal insensitivity to the antidiuretic effect of arginine vasopressin. Urinary system disease (NDI1) AVPR2 [HSA:554] [KO:K04228]
(NDI2) AQP2 [HSA:359] [KO:K09865]
H00279 Uropathogenic Escherichia coli (UPEC) infection ... UTI infections worldwide. Once inside the urinary tract, UPEC preferentially colonizes the bladder and causes cystitis, but can also ascend through the ureters into the kidneys, causing pyelonephritis. Bacterial infectious disease
H00389 Hemorrhagic fever with renal syndrome ... infection by inhaling the excreta of infected animals. HFRS is characterized by renal failure, hemorrhages, and shock. The serotype Puumala virus also causes nephropathia epidemica, a milder variant of HFRS. Viral infectious disease
H00529 Cranioectodermal dysplasia ... ectoderm-derived structures with typical craniofacial appearances, skeletal deformities and tubulointerstitial nephritis. The craniofacial features include dolichocephaly, sagittal craniosynostosis, and hypodontia Congenital malformation (CED1) IFT122 [HSA:55764] [KO:K19656]
(CED2) WDR35 [HSA:57539] [KO:K19674]
(CED3) IFT43 [HSA:112752] [KO:K19675]
(CED4) WDR19 [HSA:57728] [KO:K19671]
H00530 Joubert syndrome and related disorders ... specific midbrain-hindbrain malformation seen in brain images. JBTS is associated with retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Most of the causative genes encode cilium-related proteins Congenital malformation (JBTS1) INPP5E [HSA:56623] [KO:K20278]
(JBTS2) TMEM216 [HSA:51259] [KO:K19385]
(JBTS3) AHI1 [HSA:54806] [KO:K16740]
(JBTS4) NPHP1 [HSA:4867] [KO:K19657]
(JBTS5) CEP290 [HSA:80184] [KO:K16533]
(JBTS6) TMEM67 [HSA:91147] [KO:K19348]
(JBTS7) RPGRIP1L [HSA:23322] [KO:K16550]
(JBTS8) ARL13B [HSA:200894] [KO:K07962]
(JBTS9) CC2D2A [HSA:57545] [KO:K19352]
(JBTS10) OFD1 [HSA:8481] [KO:K16480]
(JBTS11) TTC21B [HSA:79809] [KO:K19673]
(JBTS12) KIF7 [HSA:374654] [KO:K18806]
(JBTS13) TCTN1 [HSA:79600] [KO:K19382]
(JBTS14) TMEM237 [HSA:65062] [KO:K22765]
(JBTS15) CEP41 [HSA:95681] [KO:K16455]
(JBTS16) TMEM138 [HSA:51524] [KO:K22867]
(JBTS17) CPLANE1 [HSA:65250] [KO:K22859]
(JBTS18) TCTN3 [HSA:26123] [KO:K19382]
(JBTS19) ZNF423 [HSA:23090] [KO:K22870]
(JBTS20) TMEM231 [HSA:79583] [KO:K19362]
(JBTS21) CSPP1 [HSA:79848] [KO:K16771]
(JBTS22) PDE6D [HSA:5147] [KO:K13758]
(JBTS23) JBTS23 [HSA:9786] [KO:K22865]
(JBTS24) TCTN2 [HSA:79867] [KO:K19361]
(JBTS25) CEP104 [HSA:9731] [KO:K16458]
(JBTS26) KATNIP [HSA:23247] [KO:K22858]
(JBTS27) B9D1 [HSA:27077] [KO:K16744]
(JBTS28) MKS1 [HSA:54903] [KO:K19332]
(JBTS29) TMEM107 [HSA:84314] [KO:K22764]
(JBTS30) ARMC9 [HSA:80210] [KO:K22864]
(JBTS31) CEP120 [HSA:153241] [KO:K16459]
(JBTS32) SUFU [HSA:51684] [KO:K06229]
(JBTS33) PIBF1 [HSA:10464] [KO:K16538]
(JBTS34) B9D2 [HSA:80776] [KO:K16745]
(JBTS35) ARL3 [HSA:403] [KO:K07944]
(JBTS36) FAM149B1 [HSA:317662] [KO:K24653]
(JBTS37) TOGARAM1 [HSA:23116] [KO:K24886]
(JBTS38) JBTS38 [HSA:9851] [KO:K21765]
(JBTS39) TMEM218 [HSA:219854] [KO:K26674]
(JBTS40) IFT74 [HSA:80173] [KO:K19679]
H00537 Nephronophthisis Nephronophthisis (NPH) is an inherited disorder characterized by many features including irregular tubular basement membrane, tubular cyst formation, and interstitial cell infiltration with fibrosis. The ... Congenital malformation (NPHP1) NPHP1 [HSA:4867] [KO:K19657]
(NPHP2) INVS [HSA:27130] [KO:K19626]
(NPHP3) NPHP3 [HSA:27031] [KO:K19360]
(NPHP4) NPHP4 [HSA:261734] [KO:K16478]
(NPHP5) IQCB1 [HSA:9657] [KO:K16774]
(NPHP6) CEP290 [HSA:80184] [KO:K16533]
(NPHP7) GLIS2 [HSA:84662] [KO:K09233]
(NPHP9) NEK8 [HSA:284086] [KO:K20877]
(NPHP10) SDCCAG8 [HSA:10806] [KO:K16488]
(NPHP11) TMEM67 [HSA:91147] [KO:K19348]
(NPHP12) TTC21B [HSA:79809] [KO:K19673]
(NPHP13) WDR19 [HSA:57728] [KO:K19671]
(NPHP14) ZNF423 [HSA:23090] [KO:K22870]
(NPHP15) CEP164 [HSA:22897] [KO:K16462]
(NPHP16) ANKS6 [HSA:203286] [KO:K21415]
(NPHP18) CEP83 [HSA:51134] [KO:K16754]
(NPHP19) DCDC2 [HSA:51473] [KO:K23405]
(NPHP20) MAPKBP1 [HSA:23005] [KO:K21763]
(NPHPL1) XPNPEP3 [HSA:63929] [KO:K01262]
(NPHPL2) SLC41A1 [HSA:254428] [KO:K15122]
H00538 Senior-Loken syndrome Senior-Loken syndrome is a rare disorder that combines nephronophthisis and retinitis pigmentosa. Congenital malformation (SLSN1) NPHP1 [HSA:4867] [KO:K19657]
(SLSN4) NPHP4 [HSA:261734] [KO:K16478]
(SLSN5) IQCB1 [HSA:9657] [KO:K16774]
(SLSN6) CEP290 [HSA:80184] [KO:K16533]
(SLSN7) SDCCAG8 [HSA:10806] [KO:K16488]
(SLSN8) WDR19 [HSA:57728] [KO:K19671]
(SLSN9) TRAF3IP1 [HSA:26146] [KO:K19680]
H00548 Brunner syndrome
MAOA deficiency 		... X-linked non-dysmorphic mild mental retardation. It is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such as serotonin, dopamine, and epinephrine. Inherited metabolic disorder MAOA [HSA:4128] [KO:K00274]
H00576 Pierson syndrome Pierson syndrome is an autosomal recessive disease characterized by congenital nephrotic syndrome, bilateral microcoria, and neurological abnormalities. The nephrotic syndrome progresses to end-stage renal ... Urinary system disease LAMB2 [HSA:3913] [KO:K06243]
H00578 Epstein syndrome Epstein syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. It is linked to mutations in MYH9, the nonmuscle ... Cardiovascular disease MYH9 [HSA:4627] [KO:K10352]
H00579 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) is a syndrome that is linked to the missense mutations in the COL4A1 in basement membranes. The renal manifestations include ... Congenital malformation COL4A1 [HSA:1282] [KO:K06237]
H00580 Schimke immunoosseous dysplasia ... disorder characterized by spondyloepiphyseal dysplasia resulting in a short-trunk disproportionate dwarfism, T cell immunodeficiency, and progressive nephropathy with focal segmental glomerulosclerosis. Congenital malformation SMARCAL1 [HSA:50485] [KO:K14440]
H00581 Alport syndrome Alport syndrome (ATS) is a hereditary hematuric nephropathy with frequent hearing loss and ocular anomalies. Defects of basement membranes arise from mutations in alpha 3, alpha 4, and alpha 5 type IV ... Congenital malformation (ATS1) COL4A5 [HSA:1287] [KO:K06237]
(ATS2) COL4A4 [HSA:1286] [KO:K06237]
(ATS3A_3B) COL4A3 [HSA:1285] [KO:K06237]
H00582 Benign familial hematuria
Thin basement membrane nephropathy 		Benign familial hematuria is an autosomal dominant disorder characterized by recurrent dysmorphic hematuria detected in childhood. The glomerular basement membrane is uniformly thin, but renal function ... Urinary system disease (BFH1) COL4A4 [HSA:1286] [KO:K06237]
(BFH2) COL4A3 [HSA:1285] [KO:K06237]
H00598 46,XX testicular disorder of sex development ... a 46,XX karyotype. Formerly, 46,XX DSD was also known as XX sex reversal (SRXX) or female pseudohermaphroditism. Testicular DSD patients, who have testicular tissue in the absence of an ovarian tissue, ... Reproductive system disease (SRXX1) SRY [HSA:6736] [KO:K09266]
(SRXX3) SOX3 [HSA:6658] [KO:K09267]
(SRXX4) NR5A1 [HSA:2516] [KO:K08560]
(SRXX5) NR2F2 [HSA:7026] [KO:K08548]
H00626 Focal segmental glomerulosclerosis ... progresses, a more diffuse and global pattern of sclerosis evolves. FSGS accounts for 7-20 % of idiopathic nephrotic syndrome in children and 40 % in adults. There are two types of FSGS, primary (idiopathic) and ... Urinary system disease (FSGS1) ACTN4 [HSA:81] [KO:K05699]
(FSGS2) TRPC6 [HSA:7225] [KO:K04969]
(FSGS3) CD2AP [HSA:23607] [KO:K13738]
(FSGS4) APOL1 [HSA:8542] [KO:K23585]
(FSGS5) INF2 [HSA:64423] [KO:K23958]
(FSGS6) MYO1E [HSA:4643] [KO:K10356]
(FSGS7) PAX2 [HSA:5076] [KO:K15608]
(FSGS8) ANLN [HSA:54443] [KO:K18621]
(FSGS9) CRB2 [HSA:286204] [KO:K16681]
(FSGS10) LMX1B [HSA:4010] [KO:K09371]
(FSGSNEDS) TRIM8 [HSA:81603] [KO:K12001]
H00694 Dent disease ... manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. The disease is caused by mutations in ... Urinary system disease (DENT1) CLCN5 [HSA:1184] [KO:K05012]
(DENT2) OCRL [HSA:4952] [KO:K01099]
H00706 Bart-Pumphrey syndrome Bart-Pumphrey syndrome is an autosomal dominant disorder characterized by congenital deafness and palmoplantar hyperkeratosis. Patients also display knuckle pads and leukonychia. GJB2, the gene encoding ... Congenital malformation GJB2 [HSA:2706] [KO:K07621]
H00716 Palmoplantar keratoderma with deafness ... is a Cx26 disorder characterized by sensorineural hearing loss and palmoplantar keratoderma as observed for other Cx26 syndromic deafness disorders such as Vohwinkel syndrome and Bart-Pumphrey syndrome. Congenital malformation GJB2 [HSA:2706] [KO:K07621]
H00886 Donnai-Barrow syndrome
Faciooculoacousticorenal syndrome 		... ophthalmological abnormalities (high myopia, iris stromal hypoplasia), severe sensorineural deafness, congenital diaphragmatic hernia, and proteinuria. The diagnosis is confirmed by detection of mutations in LRP2. Congenital malformation LRP2 [HSA:4036] [KO:K06233]
H00888 Nephrolithiasis/osteoporosis, hypophosphatemic Nephrolithiasis/osteoporosis, hypophosphatemic (NPHLOP) is a genetically heterologous group of disorders characterized by the formation of renal calcium stones or bone demineralization due to impaired ... Urinary system disease (NPHLOP1) SLC34A1 [HSA:6569] [KO:K14683]
(NPHLOP2) NHERF1 [HSA:9368] [KO:K13365]
H00901 Cystinuria ... acids in general are at the lower end of the normal range. Patients with cystinuria often present with nephro- or urolithiasis at almost at any age with a clear preference in childhood due to elevated urinary ... Inherited metabolic disorder SLC3A1 [HSA:6519] [KO:K14210]
SLC7A9 [HSA:11136] [KO:K13868]
H00928 Nephropathy with pretibial epidermolysis bullosa and deafness Nephropathy with pretibial epidermolysis bullosa and deafness is a hereditary nephritis. Patients also have pretibial bullous skin lesions and neurosensory deafness. Nonsense mutations in CD151, an essential ... Urinary system disease CD151 [HSA:977] [KO:K06537]
H00948 Renal hypouricemia ... And it has been suggested that RHUC is caused by mutations in URAT1 or GLUT9. Most of patients were asymptomatic, but some had nephrolithiasis or were predisposed to exercise-induced acute renal failure. Urinary system disease (RHUC1) SLC22A12 [HSA:116085] [KO:K08208]
(RHUC2) SLC2A9 [HSA:56606] [KO:K08146]
H00999 Coenzyme Q10 deficiency ... encephalopathy, cerebellar atrophy with ataxia, and infantile multisystem disease including encephalopathy and nephropathy. It has been shown that mutations in some genes involved in CoQ10 biosynthesis cause primary ... Inherited metabolic disorder (COQ10D1) COQ2 [HSA:27235] [KO:K06125]
(COQ10D2) PDSS1 [HSA:23590] [KO:K12504]
(COQ10D3) PDSS2 [HSA:57107] [KO:K12505]
(COQ10D4) COQ8A [HSA:56997] [KO:K08869]
(COQ10D5) COQ9 [HSA:57017] [KO:K18587]
(COQ10D6) COQ6 [HSA:51004] [KO:K06126]
(COQ10D7) COQ4 [HSA:51117] [KO:K18586]
(COQ10D8) COQ7 [HSA:10229] [KO:K06134]
(COQ10D9) COQ5 [HSA:84274] [KO:K06127]
H01001 COACH syndrome COACH syndrome is a rare autosomal recessive disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. The vermis hypoplasia comprises a part of a spectrum of mid-hindbrain ... Congenital malformation (COACH1) TMEM67 [HSA:91147] [KO:K19348]
(COACH2) CC2D2A [HSA:57545] [KO:K19352]
(COACH3) RPGRIP1L [HSA:23322] [KO:K16550]
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]
H01005 Dopamine beta-hydroxylase deficiency
Norepinephrine deficiency
Noradrenaline deficiency 		Dopamine beta-hydroxylase (DBH) deficiency is a very rare form of primary autonomic failure characterized by cardiovascular disorders and severe orthostatic hypotension. DBH deficiency is caused by a series ... Nervous system disease DBH [HSA:1621] [KO:K00503]
H01026 Renal coloboma syndrome
Papillorenal syndrome 		... papillorenal syndrome, is an autosomal dominant condition comprising optic nerve dysplasia and oligomeganephronic renal hypodysplasia. Mutations in the paired-box gene, PAX2, have been identified in approximately ... Congenital malformation PAX2 [HSA:5076] [KO:K15608]
H01031 Orthostatic intolerance
Postural tachycardia syndrome 		... occurring with upright posture and being relieved by lying down. Patients often have high plasma norepinephrine (NE) concentrations in relation to sympathetic outflow on standing. Abnormal norepinephrine transporter ... Cardiovascular disease SLC6A2 [HSA:6530] [KO:K05035]
H01037 Vesicoureteral reflux ... from the bladder to the kidney that affects approximately 1% of the general population. It is associated with an increased risk of recurrent urinary tract infection, pyelonephritis, and renal scarring. Urinary system disease (VUR2) ROBO2 [HSA:6092] [KO:K06754]
(VUR3) SOX17 [HSA:64321] [KO:K04495]
(VUR8) TNXB [HSA:7148] [KO:K06252]
H01067 Proteus mirabilis infection ... number of infections including those of the skin, respiratory tract, wounds, and urinary tract. Pyelonephritis caused by the bacterium primarily affects individuals with indwelling catheters or structural ... Bacterial infectious disease
H01068 Aggregatibacter aphrophilus infection Aggregatibacter aphrophilus (formerly Haemophilus aphrophilus) is a capnophilic, fermentative, non-motile, gram-negative coccobacillus, that is part of the indigenous microbiota of the human oropharynx ... Bacterial infectious disease
H01161 Aromatic L-amino acid decarboxylase deficiency ... severe neurologic dysfunction in infancy. Mutations in the gene encoding for the enzyme AADC (DDC) lead to a severe combined deficiency of serotonin and the two catecholamines, dopamine and norepinephrine. Nervous system disease DDC [HSA:1644] [KO:K01593]
H01241 Congenital diaphragmatic hernia Congenital diaphragmatic hernia (CDH) is defined as a protrusion of abdominal viscera into the thorax through an abnormal opening or defect that is present at birth. CDH is often associated with potentially ... Congenital malformation (DIH3) ZFPM2 [HSA:23414] [KO:K17442]
(DIH4) ALDH1A2 [HSA:8854] [KO:K07249]
H01294 Nephrogenic syndrome of inappropriate antidiuresis Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a disorder of water balance caused by gain of function mutation of arginine vasopressin receptor type 2 (AVPR2) resulting in free water reabsorption ... Endocrine and metabolic disease AVPR2 [HSA:554] [KO:K04228]
H01371 Hypercalcemia infantile
Idiopathic infantile hypercalcemia 		... disorder that is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. It has been reported that mutations in the vitamin D-metabolizing enzyme CYP24A1 cause ... Inherited metabolic disorder (HCINF1) CYP24A1 [HSA:1591] [KO:K07436]
(HCINF2) SLC34A1 [HSA:6569] [KO:K14683]
H01412 Perlman syndrome ... polyhydramnios with neonatal macrosomia, visceromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It has been reported that germline mutations in ... Congenital malformation DIS3L2 [HSA:129563] [KO:K18758]
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