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Entry Name Description Category Pathway Gene
H00034 Carcinoid ... develop from neuroendocrine cells that are normally and diffusely present in this location. Most carcinoids are sporadic but epidemiological studies report a familial risk. Moreover, carcinoids can occur within ... Cancer MEN1 (mutation, LOH) [HSA:4221] [KO:K14970]
SDHD (germline mutation, LOH) [HSA:6392] [KO:K00237]
H00075 Refsum disease
Heredopathia atactica polyneuritiformis 		... derived from exogenous sources, highly raised plasma phytanic acid (PA) level in tissues and body fluids is the hallmark of RD. Mutant forms of phytanoyl-CoA 2-hydroxylase (PHYH) which plays a key role ... Inherited metabolic disorder, Peroxisomal disease PHYH [HSA:5264] [KO:K00477]
PEX7 [HSA:5191] [KO:K13341]
H00091 T-B+Severe combined immunodeficiency ... T-cell differentiation, along with direct or indirect impairment of B-cell development and function. SCIDs with lack of circulating T cells but a normal number of B cells accounts for 30 to 50% of all cases ... Primary immunodeficiency JAK3 [HSA:3718] [KO:K11218]
(SCIDX1) IL2RG [HSA:3561] [KO:K05070]
(IMD8) CORO1A [HSA:11151] [KO:K13882]
(IMD18) CD3E [HSA:916] [KO:K06451]
(IMD19) CD3D [HSA:915] [KO:K06450]
(IMD25) CD247 [HSA:919] [KO:K06453]
(IMD49) BCL11B [HSA:64919] [KO:K22046]
(IMD104) IL7R [HSA:3575] [KO:K05072]
(IMD105) PTPRC [HSA:5788] [KO:K06478]
(IMD122) POLD3 [HSA:10714] [KO:K03504]
H00092 T-B-Severe combined immunodeficiency ... Adenosine deaminase (ADA) deficiency accounts for about half of the autosomal recessive forms of SCIDs. It is one of the most severe immunodeficiencies and is associated with severe depletion of B cells ... Primary immunodeficiency ADA [HSA:100] [KO:K01488]
RAG1 [HSA:5896] [KO:K10628]
RAG2 [HSA:5897] [KO:K10988]
DCLRE1C [HSA:64421] [KO:K10887]
AK2 [HSA:204] [KO:K00939]
PNP [HSA:4860] [KO:K03783]
(IMD26) PRKDC [HSA:5591] [KO:K06642]
(IMD58) CARMIL2 [HSA:146206] [KO:K20493]
(IMD121) PSMB10 [HSA:5699] [KO:K02733]
H00125 Fabry disease
Anderson-Fabry disease 		... by deficient alpha-galactosidase A activity. Symptoms arise because of accumulation of glycosphingolipids -mainly globotriaosylceramide- in multiple organs. Fabry disease affects almost all organs. The most ... Inherited metabolic disorder, Lysosomal disease GLA [HSA:2717] [KO:K01189]
H00129 Mucopolysaccharidosis type II
Hunter syndrome 		... of clinical phenotypes, ranging from mild-to-severe forms, is a result of different mutations in the IDS gene. This disorder is characterized by mental retardation, coarse faces, short stature, hearing ... Inherited metabolic disorder, Lysosomal disease (MPS2) IDS [HSA:3423] [KO:K01136]
H00141 Fucosidosis ... results in the accumulation of a variety of fucose-rich storage products of glycoproteins and glycolipids in many organs. The disease is classified into two types: type 1 for severe phenotypes and type 2 ... Inherited metabolic disorder, Lysosomal disease FUCA1 [HSA:2517] [KO:K01206]
H00144 Mucolipidosis IV ... channel. Cells from patients with MLIV accumulate enlarged vacuolar structures containing phospholipids, sphingolipids, mucopolysaccharides, and gangliosides. Accumulation of lipids results from defects ... Inherited metabolic disorder, Lysosomal disease MCOLN1 [HSA:57192] [KO:K04992]
H00146 Alpha-N-acetylgalactosaminidase deficiency ... of alpha-N-acetylgalactosaminidase, which removes terminal alpha-GalNAc monosaccharides from glycolipids and glycoproteins (primarily O-linked). The enzymatic defect results in inappropriate accumulation ... Inherited metabolic disorder, Lysosomal disease NAGA [HSA:4668] [KO:K01204]
H00160 Abetalipoproteinemia
Bassen-Kornzweig Disease 		Abetalipoproteinemia is an autosomal recessive disorder of lipid metabolism caused by mutation of MTTP gene involved in the transport of lipids and required in the secretion of beta-lipoproteins. Inherited metabolic disorder MTTP [HSA:4547] [KO:K14463]
H00165 Tyrosinemia The tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. Type I, the most severe form of tyrosinemia, is caused by a deficiency of fumarylacetoacetate hydrolase (FAH) ... Inherited metabolic disorder (TYRSN1) FAH [HSA:2184] [KO:K01555]
(TYRSN2) TAT [HSA:6898] [KO:K00815]
(TYRSN3) HPD [HSA:3242] [KO:K00457]
H00172 Maple syrup urine disease ... recessive inherited disorder caused by a defect in the oxidative decarboxylation of branched-chain amino acids (BCAA) leading to mental and physical retardation, feeding problems, and a maple syrup odor to the ... Inherited metabolic disorder (MSUD1A) BCKDHA [HSA:593] [KO:K00166]
(MSUD1B) BCKDHB [HSA:594] [KO:K00167]
(MSUD2) DBT [HSA:1629] [KO:K09699]
(DLDD) DLD [HSA:1738] [KO:K00382]
(MSUDMV) PPM1K [HSA:152926] [KO:K17505]
H00176 Adrenoleukodystrophy ... transporter. ALD is biochemically characterized by the accumulation of saturated very long chain fatty acids (VLCFA) in tissues such as adrenal cortex and white matter of central nervous system. The phenotypes ... Inherited metabolic disorder, Peroxisomal disease ABCD1 [HSA:215] [KO:K05675]
H00178 Glutaric acidemia ... deficiency of glutaryl-CoA dehydrogenase leading to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency. Glutaric aciduria type II (GA2), also known as multiple acyl-CoA ... Inherited metabolic disorder (GA1) GCDH [HSA:2639] [KO:K00252]
(GA2A) ETFA [HSA:2108] [KO:K03522]
(GA2B) ETFB [HSA:2109] [KO:K03521]
(GA2C) ETFDH [HSA:2110] [KO:K00311]
(GA3) SUGCT [HSA:79783] [KO:K18703]
H00206 Mevalonate kinase deficiency ... human autoinflammatory disorders: mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS). Mevalonate kinase is located at the beginning of the cholesterol biosynthesis pathway compromising ... Inherited metabolic disorder MVK [HSA:4598] [KO:K00869]
H00207 Rhizomelic chondrodysplasia punctata ... genes. RCDP2 and RCDP3 are single peroxisomal enzyme deficiencies caused by mutation of GNPAT and AGPS. Both of them are key enzymes in the biosynthesis of ether phospholipids localized in peroxisomes. Inherited metabolic disorder, Peroxisomal disease (RCDP1) PEX7 [HSA:5191] [KO:K13341]
(RCDP2) GNPAT [HSA:8443] [KO:K00649]
(RCDP3) AGPS [HSA:8540] [KO:K00803]
(RCDP4) FAR1 [HSA:84188] [KO:K13356]
(RCDP5) PEX5 [HSA:5830] [KO:K13342]
H00243 Hyperkalemic distal renal tubular acidosis (RTA type 4) ... hyperkalemic RTA 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 ... 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]
H00301 Klebsiella infection ... particularly Klebsiella pneumoniae, are increasing. ESBL are plasmid-mediated enzymes and these plasmids also carry resistance genes to other antibiotics including aminoglycosides, chloramphenicol, sulfonamides ... Bacterial infectious disease
H00368 Cytomegalovirus infection
CMV infection 		... can later be reactivated. CMV is an important and common cause of mortality and morbidity in immunocompromised patients such as those with HIV/AIDS or transplant recipients on immunosuppressive therapy. Viral infectious disease hsa05163 Human cytomegalovirus infection
H00370 Progressive multifocal leukoencephalopathy ... oligodendrocytes by the JC polyomavirus that occurs in immunosuppressed individuals such as patients with AIDS. Patients with PML show white matter lesions on head computed tomography scan or magnetic resonance ... Viral infectious disease
H00387 B virus infection ... alpha-herpesvirus that naturally infects Asiatic macaques. It is transmitted by exposure to contaminated bodily fluids. In macaques, the infection is similar to that of HSV-1 and HSV-2 in humans and serious disease is ... Viral infectious disease
H00406 Acquired immunodeficiency syndrome (AIDS) Since the discovery in 1980s, HIV/AIDS has become the most important infectious disease globally. Many of the clinical features of HIV/AIDS can be ascribed to the profound immune deficiency in patients ... Immune system disease; Viral infectious disease hsa05170 Human immunodeficiency virus 1 infection
H00407 Peroxisomal beta-oxidation enzyme deficiency ... D-bifunctional protein (DBP) and sterol carrier protein X (SCPx). It is known that some types of fatty acids including very-long-chain fatty acids (VLCFA), branched-chain fatty acid, and the bile acid synthesis ... Inherited metabolic disorder ACOX1 [HSA:51] [KO:K00232]
HSD17B4 [HSA:3295] [KO:K12405]
AMACR [HSA:23600] [KO:K01796]
SCP2 [HSA:6342] [KO:K08764]
H00421 Mucopolysaccharidosis Mucopolysaccharidosis (MPS) is a group of lysosomal storage diseases caused by deficient activity of enzymes that play important roles in the degradation of glycosaminoglycans. MPS2/ Hunter syndrome is ... Inherited metabolic disorder, Lysosomal disease (MPS1) IDUA [HSA:3425] [KO:K01217]
(MPS2) IDS [HSA:3423] [KO:K01136]
(MPS3A) SGSH [HSA:6448] [KO:K01565]
(MPS3B) NAGLU [HSA:4669] [KO:K01205]
(MPS3C) HGSNAT [HSA:138050] [KO:K10532]
(MPS3D) GNS [HSA:2799] [KO:K01137]
(MPS4A) GALNS [HSA:2588] [KO:K01132]
(MPS4B) GLB1 [HSA:2720] [KO:K12309]
(MPS6) ARSB [HSA:411] [KO:K01135]
(MPS7) GUSB [HSA:2990] [KO:K01195]
(MPS9) HYAL1 [HSA:3373] [KO:K01197]
(MPS10) ARSK [HSA:153642] [KO:K12376]
H00489 LCHAD deficiency
Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency 		... present with cardiomyopathy, peripheral neuropathy, retinopathy, seizures, coma, and sudden infant death (SIDS). Acute fatty liver of pregnancy and the HELLP syndrome (hemolysis, elevated liver-enzyme levels ... Inherited metabolic disorder, Mitochondrial disease HADHA [HSA:3030] [KO:K07515]
H00525 Disorders of mitochondrial fatty-acid oxidation ... mitochondrial fatty-acid oxidation are a group of rare inherited conditions that lead to accumulation of fatty acids and decreases in cell energy metabolism due to enzyme or transporter defects in the fatty acid metabolic ... Inherited metabolic disorder (MCAD) ACADM [HSA:34] [KO:K00249]
(SCAD) ACADS [HSA:35] [KO:K00248]
(SBCAD) ACADSB [HSA:36] [KO:K09478]
(VLCAD) ACADVL [HSA:37] [KO:K09479]
(MTP) HADHA [HSA:3030] [KO:K07515]
(MTP) HADHB [HSA:3032] [KO:K07509]
(CPT I) CPT1A [HSA:1374] [KO:K08765]
(CPT II) CPT2 [HSA:1376] [KO:K08766]
(CACT) SLC25A20 [HSA:788] [KO:K15109]
(CDSP) SLC22A5 [HSA:6584] [KO:K08202]
(HAD) HADH [HSA:3033] [KO:K00022]
(DECR) NADK2 [HSA:133686] [KO:K00858]
(ACAD9) ACAD9 [HSA:28976] [KO:K15980]
(ECHS1) ECHS1 [HSA:1892] [KO:K07511]
H00570 Kabuki syndrome ... Patients often have long palpebral fissures with eversion of the lateral one-third of the lower eyelids and arched and broad eyebrows that resemble the make-up of actors in Kabuki, the traditional Japanese ... Congenital malformation (KABUK1) KMT2D [HSA:8085] [KO:K09187]
(KABUK2) KDM6A [HSA:7403] [KO:K11447]
H00574 Coffin-Lowry syndrome ... anomalies. Typical facial changes and specific clinical and radiological signs in the hand are useful aids in the diagnosis. Mutations in the RSK2 (RPS6KA3) gene cause CLS. The RPS6KA3 gene encodes RSK2 that ... Congenital malformation RPS6KA3 [HSA:6197] [KO:K04373]
H00602 Glucocorticoid-remediable aldosteronism (GRA)
Familial hyperaldosteronism type I 		... the adrenal gland under the control of adrenocorticotropin (ACTH). The high levels of mineralocorticoids activate the mineralocorticoid receptor (MR) and upregulate Na reabsorption and K secretion. Most ... Endocrine and metabolic disease CYP11B1 [HSA:1584] [KO:K00497]
CYP11B2 [HSA:1585] [KO:K07433]
H00603 Hypertension exacerbated in pregnancy ... during pregnancy. The proposed explanation is that the mutation renders the receptor sensitive to nonmineralocorticoid steroids such as progesterone, the level of which rises 100-fold during pregnancy. Cardiovascular disease NR3C2 [HSA:4306] [KO:K08555]
H00687 Fraser syndrome ... cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos with completely fused eyelids, partial syndactyly, renal abnormalities, and genital malformations. Congenital malformation (FRASRS1) FRAS1 [HSA:80144] [KO:K23379]
(FRASRS2) FREM2 [HSA:341640] [KO:K23380]
(FRASRS3) GRIP1 [HSA:23426] [KO:K20251]
H00704 Oculopharyngeal muscular dystrophy ... (OPMD) is an autosomal dominant, late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs) in skeletal muscle. OPMD ... Nervous system disease; Musculoskeletal disease (OPMD1) PABPN1 [HSA:8106] [KO:K14396]
(OPMD2) HNRNPA2B1 [HSA:3181] [KO:K13158]
H00781 Schopf-Schulz-Passarge syndrome
Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis 		Schopf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia resulted from mutations in the WNT10A. The combination of multiple eyelid apocrine hidrocystomas, hypodontia, palmoplantar keratoderma ... Congenital malformation WNT10A [HSA:80326] [KO:K01357]
H00804 Multiple cutaneous and uterine leiomyomata ... is characterized by benign skin tumors arising from the arrector pili muscle, and from uterine fibroids in female patients. Some patients with MCUL develop renal cancer and this condition is called hereditary ... Neoplasm FH [HSA:2271] [KO:K01679]
H00833 Neurodegeneration with brain iron accumulation ... characterized by iron accumulation predominantly in the globus pallidus, as well as extensive axonal spheroids in various regions of the brain. The most frequent genetic form is the pantothenate kinase-2 associated ... Nervous system disease (NBIA1) PANK2 [HSA:80025] [KO:K09680]
(NBIA2A, NBIA2B) PLA2G6 [HSA:8398] [KO:K16343]
(NBIA3) FTL [HSA:2512] [KO:K13625]
(NBIA4) C19orf12 [HSA:83636] [KO:K23168]
(NBIA5) WDR45 [HSA:11152] [KO:K22991]
(NBIA6) COASY [HSA:80347] [KO:K02318]
(NBIA7) REPS1 [HSA:85021] [KO:K20068]
(NBIA8) CRAT [HSA:1384] [KO:K00624]
(NBIA9) FTH1 [HSA:2495] [KO:K00522]
H00874 Leukoencephalopathy with dystonia and motor neuropathy
Sterol carrier protein 2 deficiency 		... peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. The patient presents with torticollis and dystonic head tremor as well as slight cerebellar signs ... Inherited metabolic disorder, Peroxisomal disease SCP2 [HSA:6342] [KO:K08764]
H00901 Cystinuria Cystinuria is an 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 ... Inherited metabolic disorder SLC3A1 [HSA:6519] [KO:K14210]
SLC7A9 [HSA:11136] [KO:K13868]
H00911 Dicarboxylic aminoaciduria ... excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. DA is generally considered to be a benign disorder, but ... Inherited metabolic disorder SLC1A1 [HSA:6505] [KO:K05612]
H00957 Fleck corneal dystrophy
Francois-Neetens speckled corneal dystrophy 		... that the flecks correspond to areas of swollen keratocytes with cytoplasmic vesicles that contain lipids and mucopolysaccharides. FCD has been associated with mutations in the PIP5K3 gene encoding for an ... Nervous system disease PIP5K3 [HSA:200576] [KO:K00921]
H00959 Schnyder corneal dystrophy
Schnyder crystalline corneal dystrophy (SCCD)
Crystalline stromal dystrophy
Schnyder crystalline dystrophy sine crystals 		... manifestations, such as arcus lipoides and xanthelasma. An opaque disc of corneal crystals or other lipids may diminish vision sufficiently in both eyes to result in the need for a corneal graft. SCD is caused ... Nervous system disease UBIAD1 [HSA:29914] [KO:K00810]
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