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Entry Name Description Category Pathway Gene
H00039 Basal cell carcinoma ... prime importance. The development of basal cell carcinoma is associated with constitutive activation of sonic hedgehog signaling. The mutations in SMOH, PTCH1, and SHH in BCCs result in continuous activation ... Cancer hsa05217 Basal cell carcinoma (BCC1) SMO [HSA:6608] [KO:K06226]
(BCC1) PTCH1 [HSA:5727] [KO:K06225]
(BCC1) PTCH2 [HSA:8643] [KO:K11101]
(BCC1) RASA1 [HSA:5921] [KO:K04352]
(BCC7) TP53 [HSA:7157] [KO:K04451]
H00057 Parkinson disease Parkinson disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Both environmental ... Neurodegenerative disease hsa05012 Parkinson disease (PARK1/PARK4) SNCA (duplication, triplication) [HSA:6622] [KO:K04528]
(PARK2) PRKN [HSA:5071] [KO:K04556]
(PARK5) UCHL1 [HSA:7345] [KO:K05611]
(PARK6) PINK1 [HSA:65018] [KO:K05688]
(PARK7) PARK7 [HSA:11315] [KO:K05687]
(PARK8) LRRK2 [HSA:120892] [KO:K08844]
(PARK9) ATP13A2 [HSA:23400] [KO:K13526]
(PARK11) GIGYF2 [HSA:26058] [KO:K18730]
(PARK13) HTRA2 [HSA:27429] [KO:K08669]
(PARK14) PLA2G6 [HSA:8398] [KO:K16343]
(PARK15) FBXO7 [HSA:25793] [KO:K10293]
(PARK17) VPS35 [HSA:55737] [KO:K18468]
(PARK18) EIF4G1 [HSA:1981] [KO:K03260]
(PARK19) DNAJC6 [HSA:9829] [KO:K09526]
(PARK22) CHCHD2 [HSA:51142] [KO:K22758]
(PARK23) VPS13C [HSA:54832] [KO:K19525]
(PARK24) PSAP [HSA:5660] [KO:K12382]
(PARK25) PTPA [HSA:5524] [KO:K17605]
(IDLDP) NR4A2 [HSA:4929] [KO:K08558]
MAPT [HSA:4137] [KO:K04380]
H00059 Huntington disease ... affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15 gene, which results ... Neurodegenerative disease hsa05016 Huntington disease (HD) HTT (CAG repeat expansion) [HSA:3064] [KO:K04533]
H00066 Lewy body dementia (LBD)
Dementia with Lewy bodies (DLB) 		Lewy Body dementia (LDB) is neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. It is the second most-common degenerative dementia after ... Neurodegenerative disease SNCA (mutation, triplication) [HSA:6622] [KO:K04528]
SNCB (mutation) [HSA:6620] [KO:K24201]
LRRK2 (mutation) [HSA:120892] [KO:K08844]
GBA (mutation) [HSA:2629] [KO:K01201]
H00077 Progressive supranuclear palsy
Steele-Richardson-Olszewski syndrome 		... caused by abnormalities in the microtubule-associated protein, tau. PSP presents with an atypical parkinsonism characterized by progressive axial rigidity, vertical gaze palsy, dysarthria and dysphagia. Although ... Neurodegenerative disease (PSNP1) MAPT [HSA:4137] [KO:K04380]
H00125 Fabry disease
Anderson-Fabry disease 		Fabry disease is an X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A activity. Symptoms arise because of accumulation of glycosphingolipids -mainly globotriaosylceramide- in ... Inherited metabolic disorder, Lysosomal disease GLA [HSA:2717] [KO:K01189]
H00162 Sjogren-Larsson syndrome Sjogren-Larsson syndrome is an autosomal recessive neurocutaneous disorder caused by deficiency of microsomal fatty aldehyde dehydrogenase in fatty alcohol metabolism and characterized by congenital ichthyosis Inherited metabolic disorder ALDH3A2 [HSA:224] [KO:K00128]
H00176 Adrenoleukodystrophy ... four main categories: Childhood cerebral adrenoleukodystrophy (CCALD), adrenomyeloneuropathy (AMN), Addison-only ALD, and asymptomatic ALD. This disorder is characterized by progressive behavioral, cognitive ... Inherited metabolic disorder, Peroxisomal disease ABCD1 [HSA:215] [KO:K05675]
H00208 Hyperbilirubinemia ... hyperbilirubinemia, while Crigler-Najjar syndromes are more severe by kernicterus and jaundice. Dubin-Johnson syndrome (DJS) is caused by mutations in ABCC2, a canalicular bilirubin glucuronide and xenobiotic ... Inherited metabolic disorder (CN1, CN2) UGT1A1 [HSA:54658] [KO:K00699]
(DJS) ABCC2 [HSA:1244] [KO:K05666]
(RS) SLCO1B1 [HSA:10599] [KO:K05043]
(RS) SLCO1B3 [HSA:28234] [KO:K05043]
H00210 Wilson disease
Hepatolenticular degeneration 		Wilson disease is an autosomal recessive disorder caused by mutation of a P-type ATPase important for copper excretion into bile, leading to copper accumulation in the liver. Toxic concentration of copper ... Inherited metabolic disorder ATP7B [HSA:540] [KO:K17686]
H00247 Multiple endocrine neoplasia syndrome
Wermer syndrome
Sipple syndrome 		... gastrinoma, and pituitary adenoma. Gastrinomas are the most common type, leading to the Zollinger-Ellison Syndrome (see H01522). MEN2 is characterized by medullary thyroid cancer (MTC) and includes three ... Cancer (MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN2A MEN2B) RET [HSA:5979] [KO:K05126]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
H00257 Achalasia Addisonianism Alacrima syndrome
Triple A syndrome
Allgrove syndrome 		Achalasia-Addisonianism-Alacrima (AAA) syndrome, also known as triple-A syndrome, is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic instability ... Endocrine and metabolic disease (AAA) AAAS [HSA:8086] [KO:K14320]
(AAMR) GMPPA [HSA:29926] [KO:K00966]
H00259 Apparent mineralocorticoid excess syndrome
11-beta-ketoreductase deficiency 		... renin and aldosterone and hypokalaemia caused by deficiency of 11b-hydroxysteroid dehydrogenase type 2 which is a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone. Endocrine and metabolic disease HSD11B2 [HSA:3291] [KO:K00071]
H00296 Defects in RecQ helicases ... developmental abnormalities. These disorders are Bloom's syndrome (BS), Werner's syndrome (WS), and Rothmund-Thomson syndrome (RTS), which are caused by mutations in BLM, WRN and RECQL4, respectively. Despite the apparent ... Congenital malformation BLM [HSA:641] [KO:K10901]
WRN [HSA:7486] [KO:K10900]
RECQL4 [HSA:9401] [KO:K10730]
H00299 Shigellosis
Bacillary dysentery 		... Shigella species. There are four subgroups of Shigella: S. dysenteriae, S. flexneri, S. boydii, and S. sonnei. Of these, S. flexneri is the most frequently observed worldwide, and S. dysenteriae causes severe ... Bacterial infectious disease hsa05131 Shigellosis
H00325 Brucellosis Brucellosis is a zoonotic disease of worldwide distribution that mainly affects persons working with domestic animals. Although many countries have eradicated Brucella abortus from cattle, Brucella melitensis ... Bacterial infectious disease
H00328 Anthrax ... bacterium belonging to the Bacillus cereus group of pathogenic Bacillus, which also includes a food poisoning bacterium Bacillus cereus [DS:H00329] and an insect pathogen Bacillus thuringiensis [DS:H01399] ... Bacterial infectious disease
H00335 Foodborne Clostridium perfringens intoxication ... according to the major toxins they produce. It causes two different foodborne diseases: Type A food poisoning and Type C food poisoning. Type A causes relatively mild diarrhea common in the industrialized ... Bacterial infectious disease
H00338 Pseudomembranous colitis ... broad spectrum of clinical symptoms ranging from mild diarrhea to severe pseudomembranous colitis. C. difficile can be transmitted by the fecal-oral route from person to person and instrument to patient. Bacterial infectious disease
H00362 Giardiasis
Lambliasis 		... parasite Giardia lamblia. Infection is transmitted by ingestion of contaminated water or food, or by person-to-person contact, affecting children, pregnant women, the immunocompromised individuals, and people ... Parasitic infectious disease
H00370 Progressive multifocal leukoencephalopathy ... 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 imaging. Viral infectious disease
H00402 Severe acute respiratory syndrome
SARS 		... SARS coronavirus. SARS first emerged in 2002 and gained global from 2002 to 2003. The main mode of transmission of SARS coronavirus is person-to-person spread through inhalation of respiratory droplets. Viral infectious disease
H00420 Familial partial lipodystrophy ... postreceptor insulin signaling. Thus, mutations in these three genes could result in lipodystrophy. The reason why loss of fat is restricted to partial areas remains unknown. Recently, novel autosomal recessive ... Inherited metabolic disorder (FPLD2) LMNA [HSA:4000] [KO:K12641]
(FPLD3) PPARG [HSA:5468] [KO:K08530]
(FPLD4) PLIN1 [HSA:5346] [KO:K08768]
(FPLD5) CIDEC [HSA:63924] [KO:K25878]
(FPLD6) LIPE [HSA:3991] [KO:K07188]
(FPLD7) CAV1 [HSA:857] [KO:K06278]
(FPLD8) ADRA2A [HSA:150] [KO:K04138]
(FPLD9) PLAAT3 [HSA:11145] [KO:K16817]
(APLD) LMNB2 [HSA:84823] [KO:K07611]
AKT2 [HSA:208] [KO:K04456]
H00458 Syndromic craniosynostoses Craniosynostosis is the premature fusion of the cranial sutures and secondary distortion of skull shape. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial ... Congenital malformation (Pfeiffer) FGFR1 [HSA:2260] [KO:K04362]
(Apert, Pfeiffer, Crouzon, Jackson-Weiss, Beare-Stevenson, Antley-Bixler) FGFR2 [HSA:2263] [KO:K05093]
(Muenke) FGFR3 [HSA:2261] [KO:K05094]
(Saethre-Chotzen) TWIST1 [HSA:7291] [KO:K09069]
(Antley-Bixler) POR [HSA:5447] [KO:K00327]
(Carpenter) RAB23 [HSA:51715] [KO:K06234]
(Craniofrontonasal) EFNB1 [HSA:1947] [KO:K05463]
(Noonan) KRAS [HSA:3845] [KO:K07827]
(Baller-Gerold) RECQL4 [HSA:9401] [KO:K10730]
H00466 Grebe dysplasia
Acromesomelic dysplasia Hunter-Thompson type 		Acromesomelic dysplasia is a rare form of severe acromesomelic limb shortening inherited in autosomal recessive fashion. Lower limbs are more affected than the upper limbs, showing nonfunctional fingers ... Congenital malformation GDF5 [HSA:8200] [KO:K04664]
H00552 Chromosome Xp21 deletion syndrome ... hyperglycerolemia and glyceroluria. This disease is an Xp21 contiguous gene syndrome involving the glycerol kinase locus together with X-linked Addison disease (AHX) or Duchenne muscular dystrophy (DMD) loci or both. Chromosomal abnormality
H00571 Johanson-Blizzard syndrome Johanson-Blizzard syndrome is a rare, sometimes fatal disorder that is inherited in autosomal recessive pattern. Exocrine pancreatic insufficiency including decreased secretion of lipases and trypsinogen ... Congenital malformation UBR1 [HSA:197131] [KO:K10625]
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]
H00597 Snyder-Robinson syndrome Snyder-Robinson syndrome (SRS) is an X-linked recessive disease which causes mild-to-moderate mental retardation, osteoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder ... Congenital malformation SMS [HSA:6611] [KO:K00802]
H00601 Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome (HGPS) is a rare hereditary disorder characterized by premature aging. Children born with HGPS begin to develop micrognathia, alopecia, prominent scalp vein, and wrinkled ... Inherited metabolic disorder LMNA [HSA:4000] [KO:K12641]
H00690 Aland Island eye disease
Forsius-Eriksson syndrome 		Aland Island eye disease (AIED) is an X-linked form of ocular hypopigmentation. Affected males demonstrate nystagmus, decreased visual acuity, myopia, astigmatism, achromatopsia, and fundus hypopigmentation Nervous system disease CACNA1F [HSA:778] [KO:K04853]
H00729 Sick sinus syndrome
Sinus node dysfunction 		... (SSS) comprises a variety of conditions involving sinus node dysfunction and commonly affects elderly persons. Patients may experience syncope, pre-syncope, palpitations, or dizziness. SSS has multiple manifestations ... Cardiovascular disease (SSS1) SCN5A [HSA:6331] [KO:K04838]
(SSS2) HCN4 [HSA:10021] [KO:K04957]
(SSS3) MYH6 [HSA:4624] [KO:K17751]
(SSS4) GNB2 [HSA:2783] [KO:K04537]
H00766 Wolcott-Rallison syndrome Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal insulin-requiring diabetes and associated with skeletal dysplasia and growth retardation. Diabetes appears during ... Endocrine and metabolic disease EIF2AK3 [HSA:9451] [KO:K08860]
H00788 Hoyeraal-Hreidarsson syndrome
X-linked dyskeratosis congenita 		Hoyeraal-Hreidarsson syndrome is an X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita. It is a multisystem disorder characterized by intrauterine growth retardation ... Ribosomopathy DKC1 [HSA:1736] [KO:K11131]
H00831 Primary dystonia ... recognized. They can be divided into Primary torsion dystonias (PTDs), dystonia-plus syndromes without brain degeneration, dystonia-parkinsonism with brain degeneration (i.e. DYT3), and paroxysmal dyskinesias. Nervous system disease (DYT1) TOR1A [HSA:1861] [KO:K22990]
(DYT2) HPCA [HSA:3208] [KO:K23846]
(DYT3) TAF1 [HSA:6872] [KO:K03125]
(DYT4) TUBB4A [HSA:10382] [KO:K07375]
(DYT5) GCH1 [HSA:2643] [KO:K01495]
(DYT6) THAP1 [HSA:55145] [KO:K23203]
(DYT8) PNKD [HSA:25953] [KO:K23864]
(DYT9) SLC2A1 [HSA:6513] [KO:K07299]
(DYT10/EKD1) PRRT2 [HSA:112476] [KO:K23897]
(DYT11) SGCE [HSA:8910] [KO:K27061]
(DYT12) ATP1A3 [HSA:478] [KO:K01539]
(DYT16) PRKRA [HSA:8575] [KO:K24540]
(DYT22JO/AO) TSPOAP1 [HSA:9256] [KO:K19922]
(DYT24) ANO3 [HSA:63982] [KO:K19498]
(DYT25) GNAL [HSA:2774] [KO:K04633]
(DYT26) KCTD17 [HSA:79734] [KO:K21914]
(DYT27) COL6A3 [HSA:1293] [KO:K06238]
(DYT28) KMT2B [HSA:9757] [KO:K14959]
(DYT29/DYTOABG) MECR [HSA:51102] [KO:K07512]
(DYT30) VPS16 [HSA:64601] [KO:K20180]
(DYT31) AOPEP [HSA:84909] [KO:K09606]
(DYT32) VPS11 [HSA:55823] [KO:K20179]
(DYT33) EIF2AK2 [HSA:5610] [KO:K16195]
(DYT34) KCNN2 [HSA:3781] [KO:K04943]
(DYT35) SHQ1 [HSA:55164] [KO:K14764]
(DYT36/EKD3) TMEM151A [HSA:256472]
(DYT37) NUP54 [HSA:53371] [KO:K14308]
H00855 Triphalangeal thumb-polysyndactyly syndrome ... thumb-polydactyly syndrome (TPT-PS). TPT is caused by defects in a cis-regulatory sequence ZRS, located in intron 5 of LMBR1, which is crucial for expression of sonic hedgehog (SHH) during limb development. Congenital malformation (TPTPS) ZRS/LMBR1 [HSA:64327] [KO:K25217]
H00875 Megaloencephalic leukoencephalopathy with subcortical cysts ... macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline. Magnetic resonance imaging (MRI) shows bilateral extensive white-matter changes with cysts in the temporal regions ... Nervous system disease (MLC1) MLC1 [HSA:23209] [KO:K20070]
(MLC2A/2B) HEPACAM [HSA:220296] [KO:K23116]
(MLC3) GPRC5B [HSA:51704] [KO:K04619]
(MLC4) AQP4 [HSA:361] [KO:K09866]
H00878 Cystic leukoencephalopathy without megalencephaly ... with normo- or microcephaly and psychomotor impairment within the first year of life. Brain magnetic resonance imaging (MRI) shows bilateral anterior temporal lobe cystic lesions and enlarged inferior horns ... Inherited metabolic disorder RNASET2 [HSA:8635] [KO:K01166]
H00879 Perry syndrome ... progressive, autosomal dominant, neurodegenerative disorder. The cardinal symptoms consist of parkinsonism, depression, severe weight loss and hypoventilation. At a molecular level, Perry syndrome is characterized ... Neurodegenerative disease DCTN1 [HSA:1639] [KO:K04648]
H00908 Mowat-Wilson syndrome Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung ... Congenital malformation ZEB2 [HSA:9839] [KO:K23560]
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