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Entry Name Description Category Pathway Gene
H01055 Giant kidney worm infection
Dioctophymosis 		... dogs or other carnivores. Humans are accidental definitive hosts. Ingested Dioctophyma larvae migrate into the right kidney where they mature. Clinical presentation of D. renale infection is unspecific. Parasitic infectious disease
H01059 Capnocytophaga canimorsus infection ... dog, or cat bites, scratches or licks. The infection presents as fulminant sepsis, endocarditis, and purulent arthritis associated with high mortality and most cases occur in immunocompromised patients. Bacterial infectious disease
H01065 Pentosuria Pentosuria is an autosomal recessive inherited condition to be inborn errors of metabolism characterized by high levels of the pentose sugar L-xylulose in blood and urine. The condition is completely clinically ... Inherited metabolic disorder DCXR [HSA:51181] [KO:K03331]
H01090 Ascariasis ... documented parasitic infection in sub-Saharan Africa, the Americas, China, and east Asia. Morbidity and mortality increase with worm burden and those who harbor light infections tend to be asymptomatic. Parasitic infectious disease
H01096 Pyruvate kinase deficiency ... symptoms include jaundice, enlargement of the spleen, and hemolysis, leading to anemia. One hundred fifty-eight mutations associated with non-spherocytic haemolytic anaemia and eight polymorphic sites have been ... Inherited metabolic disorder PKLR [HSA:5313] [KO:K12406]
H01108 CD36 deficiency
Platelet glycoprotein IV deficiency
Bleeding disorder platelet-type 10 (BDPLT10) 		... relatively frequent in Asian and African populations. It also has been reported that CD36 deficiency might be linked with cardiomyopathy. This deficiency can be classified in two subgroups: the type I phenotype ... Inherited metabolic disorder CD36 [HSA:948] [KO:K06259]
H01123 HMG-CoA synthase deficiency ... (HMGCS) deficiency is an autosomal recessive disorder of ketogenesis. Two isoforms of HMGCS are found in higher eukaryotes: the cytosolic HMGCS1 and mitochondrial HMGCS2. Mitochondrial HMGCS2 is involved in ... Inherited metabolic disorder, Mitochondrial disease HMGCS2 [HSA:3158] [KO:K01641]
H01130 Late-onset retinal degeneration ... is a rare autosomal dominant ocular disease characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits between the retinal pigment epithelium (RPE) and Bruch's ... Nervous system disease C1QTNF5 [HSA:114902] [KO:K24212]
H01134 Rhabdoid predisposition syndrome Rhabdoid predisposition syndrome (RPS) is familial cases of highly malignant, aggressive, embryonal neoplasms manifested in early infancy and childhood that may originate from virtually any tissue, generally ... Cancer (RTPS1) SMARCB1 [HSA:6598] [KO:K11648]
(RTPS2) SMARCA4 [HSA:6597] [KO:K11647]
H01152 Taenia saginata infection ... abdominal pain or persistent diarrhea, is caused by the ingestion of the larval stage of cysticerci in beef. T. saginata is distributed worldwide but has the highest prevalence in Southern and Eastern Africa. Parasitic infectious disease
H01153 Human echinococcosis ... is most often curable. Disease due to E. multilocularis (alveolar hydatid disease) is less common but more difficult to treat. In echinococcosis, anaphylactic reactions might occur with fatal outcome. Parasitic infectious disease
H01165 Novosphingobium aromaticivorans infection ... reported to trigger the development of primary biliary cirrhosis because it expresses proteins that have high homology with human pyruvate dehydrogenase component (PDC-E2), which can act as an immunological ... Bacterial infectious disease
H01171 Poor drug metabolism ... (CYP). There are some defective activity mutants due to CYP polymorphisms. In these cases, drugs are not metabolized, the high drug levels in blood are maintained, and toxic effects appear in the patients. Inherited metabolic disorder CYP2C19 [HSA:1557] [KO:K17721]
CYP2D6 [HSA:1565] [KO:K17712]
H01173 Stiff skin syndrome ... limitation of joint mobility, and mild hypertrichosis, remarkable in the areas with abundant fascia on the thighs and buttocks. SSS is caused by mutations in the Arg-Gly-Asp (RGD) sequence-encoding domain of fibrillin-1 ... Skin disease FBN1 [HSA:2200] [KO:K06825]
H01181 T-cell immunodeficiency congenital alopecia and nail dystrophy ... epithelia and skin. SCIDs are disorders of both cell-mediated and humoral immunity, characterized by high susceptibility to develop severe and sometimes fatal infections. TIDAND is the only human SCID caused ... Immune system disease FOXN1 [HSA:8456] [KO:K09407]
H01183 Thiamine-responsive megaloblastic anemia ... diabetes mellitus, and progressive sensorineural deafness, due to mutations in SLC19A2, encoding a high-affinity thiamine transporter protein. In addition to the cardinal components, other findings are ... Inherited metabolic disorder SLC19A2 [HSA:10560] [KO:K14610]
H01194 X-linked chondrodysplasia punctata ... stature, and distal phalangeal hypoplasia. Mutations in ARSE which encodes arylsulfatase E, showing a high sequence homology to steroid sulfatase. In X-linked dominant CDP (CDPX2), aberrant punctate calcification ... Congenital malformation (CDPX1) ARSL [HSA:415] [KO:K18222]
(CDPX2) EBP [HSA:10682] [KO:K01824]
H01195 VACTERL/VATER association ... aetiology has been identified only in a small fraction of patients to date, likely due to factors such as a high degree of clinical and causal heterogeneity, the largely sporadic nature of the disorder, and the ... Congenital malformation PTEN [HSA:5728] [KO:K01110]
HOXD13 [HSA:3239] [KO:K09298]
(VACTERLX) ZIC3 [HSA:7547] [KO:K18487]
(VCTERL) WBP11 [HSA:51729] [KO:K12866]
H01199 Hyperalphalipoproteinemia Hyperalphalipoproteinemia (HALP) is a condition of elevated high-density lipoprotein cholesterol (HDL-C) level caused by a variety of genetic and environmental factors. The most important cause of primary ... Inherited metabolic disorder (HALP1) CETP [HSA:1071] [KO:K16835]
(HALP2) APOC3 [HSA:345] [KO:K08759]
H01202 Cataract ... vacuole formation and disarray of lens cells, which can cause large fluctuations in density resulting in light scattering. In addition, light scattering and opacity will occur if there is a significant amount ... Nervous system disease (CTRCT1) GJA8 [HSA:2703] [KO:K07617]
(CTRCT2) CRYGC [HSA:1420] [KO:K23483]
(CTRCT3) CRYBB2 [HSA:1415] [KO:K23482]
(CTRCT4) CRYGD [HSA:1421] [KO:K23483]
(CTRCT5) HSF4 [HSA:3299] [KO:K09417]
(CTRCT6) EPHA2 [HSA:1969] [KO:K05103]
(CTRCT9) CRYAA [HSA:1409] [KO:K09541]
(CTRCT10) CRYBA1 [HSA:1411] [KO:K23482]
(CTRCT11) PITX3 [HSA:5309] [KO:K09357]
(CTRCT12) BFSP2 [HSA:8419] [KO:K10379]
(CTRCT13) GCNT2 [HSA:2651] [KO:K00742]
(CTRCT14) GJA3 [HSA:2700] [KO:K07612]
(CTRCT15) MIP [HSA:4284] [KO:K09863]
(CTRCT16) CRYAB [HSA:1410] [KO:K09542]
(CTRCT17) CRYBB1 [HSA:1414] [KO:K23482]
(CTRCT18) FYCO1 [HSA:79443] [KO:K21954]
(CTRCT19) LIM2 [HSA:3982] [KO:K24190]
(CTRCT20) CRYGS [HSA:1427] [KO:K23483]
(CTRCT21) MAF [HSA:4094] [KO:K09035]
(CTRCT22) CRYBB3 [HSA:1417] [KO:K23482]
(CTRCT23) CRYBA4 [HSA:1413] [KO:K23482]
(CTRCT30) VIM [HSA:7431] [KO:K07606]
(CTRCT31) CHMP4B [HSA:128866] [KO:K12194]
(CTRCT33) BFSP1 [HSA:631] [KO:K10378]
(CTRCT34) FOXE3 [HSA:2301] [KO:K09398]
(CTRCT36) TDRD7 [HSA:23424] [KO:K18405]
(CTRCT38) AGK [HSA:55750] [KO:K09881]
(CTRCT39) CRYGB [HSA:1419] [KO:K23483]
(CTRCT40) NHS [HSA:4810] [KO:K24144]
(CTRCT41) WFS1 [HSA:7466] [KO:K14020]
(CTRCT42) CRYBA2 [HSA:1412] [KO:K23482]
(CTRCT43) UNC45B [HSA:146862] [KO:K21991]
(CTRCT44) LSS [HSA:4047] [KO:K01852]
(CTRCT45) SIPA1L3 [HSA:23094] [KO:K17703]
(CTRCT46) LEMD2 [HSA:221496] [KO:K24080]
(CTRCT47) SLC16A12 [HSA:387700] [KO:K11810]
(CTRCT48) DNMBP [HSA:23268] [KO:K20705]
(CTRCT49) PANK4 [HSA:55229] [KO:K24265]
(CTRCT50) TRPM3 [HSA:80036] [KO:K04978]
H01206 Plasminogen deficiency ... numerous other organs have been reported to be affected. Type 2, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations. Hematologic disease PLG [HSA:5340] [KO:K01315]
H01221 Epithelial basement membrane corneal dystrophy
Cogan microcystic epithelial dystrophy
Map-dot-fingerprint dystrophy 		... hereditary pattern, but some cases presented with an autosomal dominant inheritance. Mutations in the TGFBI/BIGH3 genes, which are known to cause various forms of corneal dystrophies, have been identified. Sheet-like ... Nervous system disease TGFBI [HSA:7045] [KO:K19519]
H01229 Inclusion body myopathy 3 ... with a heterozygous missense mutation in the myosin heavy chain (MyHC) IIa gene (MYH2), changing the highly conserved and negatively charged glutamate at position 706 to the positively charged lysine (E706K) ... Nervous system disease; Musculoskeletal disease MYH2 [HSA:4620] [KO:K24220]
H01231 Biotin-thiamine-responsive basal ganglia disease ... dysphagia, and sometimes coma and death. Symptoms disappear within a few days with the administration of high doses of biotin (5-10 mg/kg/d) and sometimes thiamine. It has been reported that BTBGD is due to ... Inherited metabolic disorder SLC19A3 [HSA:80704] [KO:K14610]
H01241 Congenital diaphragmatic hernia ... potentially lethal lung hypoplasia and pulmonary hypertension. Despite advances in therapy, mortality remains high. Although the etiology of most cases of CDH remains unknown, there is increasing evidence that specific ... Congenital malformation (DIH3) ZFPM2 [HSA:23414] [KO:K17442]
(DIH4) ALDH1A2 [HSA:8854] [KO:K07249]
H01242 Saccharopinuria ... that this disorder results from specific mutations in the portion of AASS encoding SDH, which could explain the high levels of saccharopine, compared with that in patients with hyperlysinemia [DS:H00188]. Inherited metabolic disorder AASS [HSA:10157] [KO:K14157]
H01252 Hereditary folate malabsorption ... hypoimmunoglobulinemia, and recurrent infections. When diagnosed early, the signs and symptoms can be obviated by high oral doses of folates. Recently, several mutations were identified in the proton-coupled folate transporter ... Inherited metabolic disorder SLC46A1 [HSA:113235] [KO:K14613]
H01276 Chronic idiopathic intestinal pseudo-obstruction
CIIP 		... in pediatric and adult cases, since affected individuals are often unable to maintain normal body weight and/or normal oral nutrition. CIIP is generally sporadic, but familial forms have also been described ... Digestive system disease FLNA [HSA:2316] [KO:K04437]
H01278 Iron-refractory iron deficiency anemia ... recessive disorder characterized by hypochromic microcytic anaemia, low transferrin saturation and high levels of the iron-regulated hormone hepcidin. The disease is caused by mutations in TMPRSS6, which ... Hematologic disease TMPRSS6 [HSA:164656] [KO:K09637]
H01293 Narcolepsy ... causative mutations have not been identified to date. The discovery of hypocretin-1 (HCRT) deficiency shed light on the underlying pathophysiology of the disease. The hypocretin neurotransmission system was shown ... Nervous system disease (NRCLP1) HCRT [HSA:3060] [KO:K05246]
(NRCLP7) MOG [HSA:4340] [KO:K17270]
H01301 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts ... calcification, and cataracts is an autosomal-recessive syndrome with severe hemorrhagic destruction of the brain as a cardinal feature. A mutation in JAM3 that encodes tight-junction protein causes this syndrome. Nervous system disease JAM3 [HSA:83700] [KO:K06785]
H01320 Epidemic keratoconjunctivitis Epidemic keratoconjunctivitis (EKC) is a highly contagious and severe form of eye disease caused by human adenoviruses (HAdVs). There are two well-defined adenoviral keratoconjunctivitis clinical syndromes: ... Viral infectious disease
H01328 Aspergillosis ... pulmonary aspergillosis, occurring in immunocompromised patients, reflects the most serious disease with a high case-fatality rate. Of the 185 recognized species of Aspergillus, 20 are known to cause infections ... Fungal infectious disease CLEC1A (susceptibility) [HSA:51267] [KO:K10069]
CLEC7A (susceptibility) [HSA:64581] [KO:K10074]
H01346 Bloom syndrome
MGRISCE1 		... facial rash, dysmorphic features such as microcephaly and malar hypoplasia, immunodeficiency and a high predisposition to various types of cancer. The function of BLM as a helicase and its role during ... Congenital malformation BLM [HSA:641] [KO:K10901]
H01354 Leigh syndrome Leigh syndrome is a severe neurological disorder, characterized by bilaterally symmetrical necrotic lesions in the basal ganglia and brainstem. Most frequently the central nervous system is affected, with ... Inherited metabolic disorder, Mitochondrial disease NDUFS3 [HSA:4722] [KO:K03936]
NDUFS4 [HSA:4724] [KO:K03937]
NDUFS7 [HSA:374291] [KO:K03940]
NDUFS8 [HSA:4728] [KO:K03941]
NDUFA2 [HSA:4695] [KO:K03946]
NDUFA9 [HSA:4704] [KO:K03953]
NDUFA10 [HSA:4705] [KO:K03954]
NDUFA12 [HSA:55967] [KO:K11352]
NDUFAF2 [HSA:91942] [KO:K18160]
NDUFAF6 [HSA:137682] [KO:K18163]
FOXRED1 [HSA:55572] [KO:K18166]
SDHA [HSA:6389] [KO:K00234]
COX10 [HSA:1352] [KO:K02257]
COX15 [HSA:1355] [KO:K02259]
SURF1 [HSA:6834] [KO:K14998]
BCS1L [HSA:617] [KO:K08900]
TACO1 [HSA:51204] [KO:K18189]
(LSFC) LRPPRC [HSA:10128] [KO:K17964]
H01357 Allergic contact dermatitis ... typically triggered by environmental factors, ACD may affect certain individuals more easily than others. A higher risk for polysensitization has been found for polymorphism in the TNFA (TNFA-308) and IL-16 (IL-16-295 ... Immune system disease
H01368 Cytochrome c oxidase (COX) deficiency
Mitochondrial complex IV deficiency (MT-C4D) 		... recessive or a maternal pattern. Patients can present with a number of different clinical phenotypes, including Leigh syndrome, Fatal infantile cardioencephalomyopathy, and Leber hereditary optic neuropathy. Inherited metabolic disorder, Mitochondrial disease (MC4DN1) SURF1 [HSA:6834] [KO:K14998]
(MC4DN2) SCO2 [HSA:9997] [KO:K23755]
(MC4DN3) COX10 [HSA:1352] [KO:K02257]
(MC4DN4) SCO1 [HSA:6341] [KO:K07152]
(MC4DN5) LRPPRC [HSA:10128] [KO:K17964]
(MC4DN6) COX15 [HSA:1355] [KO:K02259]
(MC4DN7) COX6B1 [HSA:1340] [KO:K02267]
(MC4DN8) TACO1 [HSA:51204] [KO:K18189]
(MC4DN9) COA5 [HSA:493753] [KO:K18178]
(MC4DN10) COX14 [HSA:84987] [KO:K18181]
(MC4DN11) COX20 [HSA:116228] [KO:K18184]
(MC4DN12) PET100 [HSA:100131801] [KO:K18186]
(MC4DN13) COA6 [HSA:388753] [KO:K18179]
(MC4DN14) COA3 [HSA:28958] [KO:K18175]
(MC4DN15) COX8A [HSA:1351] [KO:K02273]
(MC4DN16) COX4I1 [HSA:1327] [KO:K02263]
(MC4DN17) COA8 [HSA:84334] [KO:K23506]
(MC4DN18) COX6A2 [HSA:1339] [KO:K02266]
(MC4DN19) PET117 [HSA:100303755] [KO:K18188]
(MC4DN20) COX5A [HSA:9377] [KO:K02264]
(MC4DN21) NDUFA4 [HSA:4697] [KO:K03948]
(MC4DN22) COX16 [HSA:51241] [KO:K18182]
(MC4DN23) COX11 [HSA:1353] [KO:K02258]
(COXPD44) FASTKD2 [HSA:22868] [KO:K18190]
(MT-C4D) COX1 [HSA:4512] [KO:K02256]
(MT-C4D) COX2 [HSA:4513] [KO:K02261]
(MT-C4D) COX3 [HSA:4514] [KO:K02262]
H01390 Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE Syndrome 		... recessive neurodegenerative disorder associated with thymidine phosphorylase deficiency resulting in high levels of plasma thymidine and a characteristic clinical phenotype. The disease is characterized ... Inherited metabolic disorder, Mitochondrial disease TYMP [HSA:1890] [KO:K00758]
RRM2B [HSA:50484] [KO:K10808]
POLG [HSA:5428] [KO:K02332]
LIG3 [HSA:3980] [KO:K10776]
H01409 Methicillin-sensitive Staphylococcus aureus (MSSA) infection ... (SCCmec) element which includes the mecA gene coding for resistance to the antibiotic methicillin. A highly cytotoxic and clinically virulent methicillin-sensitive strain, S. aureus strain 6850 is a well-characterized ... Bacterial infectious disease hsa05150 Staphylococcus aureus infection
H01410 Anaerobic infection Anaerobic infections are common and some are serious with a high mortality rate. The clinically important anaerobes are several genera of Gram-negative rods (Bacteroides, Prevotella, Porphyromonas, Fusobacterium ... Bacterial infectious disease
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