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Entry Name Description Category Pathway Gene
H00172 Maple syrup urine disease ... Currently, there are effective therapies that are in use for MSUD; the dietary therapy and thiamin supplementation. The dietary therapy, which involves feeding patients with a synthetic diet containing ... 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]
H00247 Multiple endocrine neoplasia syndrome
Wermer syndrome
Sipple syndrome 		... H01522). MEN2 is characterized by medullary thyroid cancer (MTC) and includes three subtypes: MEN2A (Sipple's syndrome), MEN2B (MEN3) and familial MTC. Patients with MEN2A develop MTC in association with ... Cancer (MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN2A MEN2B) RET [HSA:5979] [KO:K05126]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
H00262 Neural tube defects, folate-sensitive ... significant determinant of NTD risk. The genetic studies have shown the relationships of folate-related genes. Maternal supplementation with folic acid is the most effective measure known to prevent NTDs. Congenital malformation MTHFR [HSA:4524] [KO:K25004]
MTR [HSA:4548] [KO:K00548]
MTRR [HSA:4552] [KO:K00597]
MTHFD1 [HSA:4522] [KO:K00288]
H00292 Hypertrophic cardiomyopathy ... utilization by actomyosin at submaximal Ca2+ concentrations, which might cause an imbalance in energy supply and demand in the heart under severe stress. The inefficient use of ATP suggests that an inability ... Cardiovascular disease hsa05410 Hypertrophic cardiomyopathy (CMH1) MYH7 [HSA:4625] [KO:K17751]
(CMH1) MYLK2 [HSA:85366] [KO:K00907]
(CMH1) CAV3 [HSA:859] [KO:K12959]
(CMH2) TNNT2 [HSA:7139] [KO:K12045]
(CMH3) TPM1 [HSA:7168] [KO:K10373]
(CMH4) MYBPC3 [HSA:4607] [KO:K12568]
(CMH6) PRKAG2 [HSA:51422] [KO:K07200]
(CMH7) TNNI3 [HSA:7137] [KO:K12044]
(CMH8) MYL3 [HSA:4634] [KO:K12749]
(CMH9) TTN [HSA:7273] [KO:K12567]
(CMH10) MYL2 [HSA:4633] [KO:K10351]
(CMH11) ACTC1 [HSA:70] [KO:K12314]
(CMH12) CSRP3 [HSA:8048] [KO:K09377]
(CMH13) TNNC1 [HSA:7134] [KO:K05865]
(CMH14) MYH6 [HSA:4624] [KO:K17751]
(CMH15) VCL [HSA:7414] [KO:K05700]
(CMH16) MYOZ2 [HSA:51778] [KO:K26050]
(CMH17) JPH2 [HSA:57158] [KO:K19530]
(CMH18) PLN [HSA:5350] [KO:K05852]
(CMH20) NEXN [HSA:91624] [KO:K23918]
(CMD1KK/CMH22) MYPN [HSA:84665] [KO:K22028]
(CMD1AA/CMH23) ACTN2 [HSA:88] [KO:K21073]
(CMD1C/CMH24) LDB3 [HSA:11155] [KO:K19867]
(CMH25) TCAP [HSA:8557] [KO:K19879]
(CMH26) FLNC [HSA:2318] [KO:K27393]
(CMH27) ALPK3 [HSA:57538] [KO:K08868]
(CMH28) FHOD3 [HSA:80206] [KO:K23939]
(CMH29) KLHL24 [HSA:54800] [KO:K10461]
(CMH30) CORIN [HSA:10699] [KO:K09614]
H00298 Yersiniosis ... via ingestion of contaminated food as the most common route and consumption of contaminated water supplies. Yersiniosis occurs more commonly in regions with temperate rather than tropical or subtropical ... Bacterial infectious disease hsa05135 Yersinia infection
H00352 Whipple disease Whipple disease (WD) is a rare chronic multi-system disease associated with the bacterium Tropheryma whipplei that is ubiquitously present in the environment. The clinical features of WD are non-specific ... Bacterial infectious disease
H00410 Maturity onset diabetes of the young (MODY) Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of familial diabetes mellitus characterized by autosomal dominant inheritance, early onset before 25 years ... Endocrine and metabolic disease hsa04950 Maturity onset diabetes of the young (MODY1) HNF4A [HSA:3172] [KO:K07292]
(MODY2) GCK [HSA:2645] [KO:K12407]
(MODY3) HNF1A [HSA:6927] [KO:K08036]
(MODY4) PDX1 [HSA:3651] [KO:K07594]
(MODY5) HNF1B [HSA:6928] [KO:K08034]
(MODY6) NEUROD1 [HSA:4760] [KO:K08033]
(MODY7) KLF11 [HSA:8462] [KO:K09209]
(MODY8) CEL [HSA:1056] [KO:K12298]
(MODY9) PAX4 [HSA:5078] [KO:K08032]
(MODY10) INS [HSA:3630] [KO:K04526]
(MODY11) BLK [HSA:640] [KO:K08890]
(MODY13) KCNJ11 [HSA:3767] [KO:K05004]
(MODY14) APPL1 [HSA:26060] [KO:K08733]
H00517 Spondylocostal dysostosis Spondylocostal dysostosis (SCDO) is a group of disorders characterized by vertebral defects along the entire spinal column with rib fusions and deletions. SCD arises from disturbed somite segmentation ... Congenital malformation (SCDO1) DLL3 [HSA:10683] [KO:K06051]
(SCDO2) MESP2 [HSA:145873] [KO:K09076]
(SCDO3) LNFG [HSA:3955] [KO:K05948]
(SCDO4) HES7 [HSA:84667] [KO:K09087]
(SCDO5) TBX6 [HSA:6911] [KO:K10180]
(SCDO6) RIPPLY2 [HSA:134701]
H00640 Limb-mammary syndrome ... condition characterized by ectrodactyly, cleft palate, and aplasia or hypoplasia of the mammary gland and nipple. Unlike its allelic disorder EEC syndrome, LMS patients do not have hair and skin defects. Congenital malformation TP63 [HSA:8626] [KO:K10149]
H01111 Cortisone reductase deficiency ... within the endoplasmic reticulum. And loss of its activity results in CRD. Mutations in H6PD, which encodes an enzyme supplying cofactor for the reaction, also have been identified as the cause of CRD. Endocrine and metabolic disease (CORTRD1) H6PD [HSA:9563] [KO:K13937]
(CORTRD2) HSD11B1 [HSA:3290] [KO:K15680]
H01234 Trimethylaminuria
Fish-odor syndrome 		... possibly L-carnitine. In addition, transient TMAU has been reported in a preterm infant who was fed with choline-rich food supplements and has been reported in some women just at the onset of menstruation. Inherited metabolic disorder FMO3 [HSA:2328] [KO:K00485]
H01469 Short bowel syndrome ... nutritional support such as oral rehydration, parenteral nutrition, enteral nutrition, vitamin and mineral supplements, and special diet. Currently, a recombinant analog of human glucagon-like peptide-2 (GLP-2) ... Digestive system disease
H01529 Avascular necrosis of femoral head
Osteonecrosis of the femoral head 		... death in the bone constituents occurs because of decreased blood flow or an interruption in the blood supply. ANFH occurs mainly in young individuals between 30 and 50 years old. The clinical manifestations ... Musculoskeletal disease (ANFH1) COL2A1 [HSA:1280] [KO:K19719]
(ANFH2) TRPV4 [HSA:59341] [KO:K04973]
SERPINE1 [HSA:5054] [KO:K03982]
VEGFA [HSA:7422] [KO:K05448]
NOS3 [HSA:4846] [KO:K13242]
ABCB1 [HSA:5243] [KO:K05658]
H01566 Beriberi ... beriberi may occur, and is characterized by cardiovascular collapse. Appropriate management of this form is mandatory since thiamine supplementation leads to rapid recovery while untreated forms are fatal. Endocrine and metabolic disease
H01567 Thiamine pyrophosphokinase deficiency
Thiamine metabolism dysfunction syndrome 5 		... important in a range of fundamental processes such as cellular respiration. It has been reported that early thiamine supplementation prevented encephalopathic episodes and improved developmental progression. Inherited metabolic disorder TPK1 [HSA:27010] [KO:K00949]
H01580 Vitamin C deficiency
Scurvy 		... decreases the absorption of vitamin C. The diagnosis of scurvy is generally based on clinical features and dietary history, and there is rapid resolution of signs and symptoms after vitamin C supplementation. Inherited metabolic disorder
H01588 Cluster headache ... cluster period, and long-term treatment in patients with chronic CH. Evidence supports the use of supplemental oxygen, sumatriptan, and zolmitriptan for acute treatment of episodic CH. Verapamil is used ... Nervous system disease
H01597 Restless legs syndrome
Willis Ekbom disease 		... deficiency has been found among patients with RLS. It has been reported that treatment with oral iron supplements resulted in improvements in the severity of the symptoms in patients with a low serum ferritin ... Nervous system disease
H01626 Arteriosclerosis obliterans ... the treatment of some patients with ASO. Adsorption of low-density lipoprotein (LDL) has also been applied for the treatment of ASO. At present, the diagnosis of ASO depends on several clinical tests, ... Cardiovascular disease
H01632 Angina pectoris ... causes of angina pectoris, the most common is coronary artery disease (CAD). At the cellular level, angina pectoris is a result of increased myocardial oxygen demand or decreased myocardial oxygen supply. Cardiovascular disease
H01709 Glucocorticoid-induced osteonecrosis ... postulated mechanisms include hyperlipidemia, fat emboli and intravascular coagulation that reduce the supply of blood to the bones. Since not all patients who are treated with steroids develop osteonecrosis ... Musculoskeletal disease
H01730 Myocardial infarction ... resulting in reduced blood flow to the heart and injuring heart muscles because of lack of oxygen supply. The symptoms of MI include chest pain, which travels from left arm to neck, shortness of breath ... Cardiovascular disease ESR1 [HSA:2099] [KO:K08550]
F13A1 [HSA:2162] [KO:K03917]
F7 [HSA:2155] [KO:K01320]
GCLC [HSA:2729] [KO:K11204]
GCLM [HSA:2730] [KO:K11205]
ITGB3 [HSA:3690] [KO:K06493]
LRP8 [HSA:7804] [KO:K20052]
LTA [HSA:4049] [KO:K05468]
OLR1 [HSA:4973] [KO:K08763]
PSMA6 [HSA:5687] [KO:K02730]
TNFSF4 [HSA:7292] [KO:K05469]
H01736 Persistent truncus arteriosus ... rare congenital condition in which a solitary arterial trunk arises from the base of the heart and supplies the coronary, pulmonary and systemic arteries. It is recognized as the most severe phenotype of ... Cardiovascular disease NKX2-6 [HSA:137814] [KO:K09346]
GATA6 [HSA:2627] [KO:K17897]
H01777 Schwartz-Jampel syndrome ... myotonia, skeletal anomalies, and facial dysmorphism. Schwartz-Jampel syndrome (SJS) is a term now applied to 2 different autosomal recessive disorder, sometimes termed SJS type 1 and SJS type 2. SJS type ... Nervous system disease; Musculoskeletal disease HSPG2 [HSA:3339] [KO:K06255]
H01786 Congenitally corrected transposition of the great arteries ... discordance and ventriculo-arterial (VA) discordance. The morphologic left ventricle and mitral valve supply the pulmonary circulation and the morphologic right ventricle and tricuspid valve supply the systemic ... Congenital malformation
H01803 Pulmonary atresia with ventricular septal defect ... complete absence of any communication between the right ventricle and the pulmonary arteries. The blood supply to the pulmonary arteries is provided by a patent arterial duct or by major aorto pulmonary collateral ... Congenital malformation
H01805 Tricho-hepato-enteric syndrome
Syndromic diarrhea 		... abnormalities in two components of the putative human ski complex: SKIV2L and TTC37. During their clinical course, most of the patients require parenteral nutrition and often immunoglobulin supplementation. Congenital malformation (THES1) SKIC3 [HSA:9652] [KO:K12600]
(THES2) SKIC2 [HSA:6499] [KO:K12599]
H01814 Stromme syndrome
Apple peel syndrome with microcephaly and ocular anomalies
Jejunal atresia with microcephaly and ocular anomalies 		Stromme syndrome is a rare multiple congenital malformation syndrome consisting in apple peel intestinal atresia, ocular anomalies, microcephaly, and developmental delay. It is an autosomal-recessive disease ... Congenital malformation (STROMS) CENPF [HSA:1063] [KO:K11499]
H01817 Beukes hip dysplasia
Beukes type hip dysplasia 		... in early childhood in the majority of affected persons and the course is progressive with severe crippling by early adulthood. General health is good, and height is not significantly reduced. The condition ... Congenital malformation UFSP2 [HSA:55325] [KO:K01376]
H01828 Opsismodysplasia ... and severe platyspondyly. Mutations in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1) are found in several families with OPS. However, not all patients have INPPL1 variants suggesting ... Congenital malformation INPPL1 [HSA:3636] [KO:K15909]
H01840 Moebius syndrome
Mobius syndrome 		... defect in the rhombomere segments including the facial nerve nuclei and an interruption of the vascular supply resulting in ischemia. It has also been reported that mutations in the MBS1, MBS2, and MBS3 gene ... Congenital malformation
H01849 Peripheral arteriovenous malformation ... surgical treatment of larger lesions can often lead to excessive blood loss, in addition to serious complications. Ligation or embolization of the arteries supplying the AVM is usually followed by recurrence. Congenital malformation
H01903 Brown-Vialetto-Van Laere syndrome ... with defective riboflavin transporters encoded by the SLC52A2 and SLC52A3 genes. It has been suggested that riboflavin supplementation can ameliorate the progression of this neurodegenerative condition. Neurodegenerative disease (BVVLS1) SLC52A3 [HSA:113278] [KO:K14620]
(BVVLS2) SLC52A2 [HSA:79581] [KO:K22117]
H01925 Transient neonatal zinc deficiency ... with autosomal recessive inheritance. The other one is SLC30A2/ZnT2, the transporter responsible for supplying human milk with zinc. Mutations in this transporter cause TNZD with symptoms similar to AEZ but ... Inherited metabolic disorder SLC30A2 [HSA:7780] [KO:K14689]
H02089 Winchester syndrome ... is a rare skeletal disorder originally described nearly 50 years ago in two sisters with a severe crippling osteolysis. Previously, Winchester syndrome and multicentric osteolysis, nodulosis, and arthropathy ... Musculoskeletal disease MMP14 [HSA:4323] [KO:K07763]
H02179 Rippling muscle disease Rippling muscle disease (RMD) is an autosomal-dominant disorder of skeletal muscle characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced ... Nervous system disease; Musculoskeletal disease CAV3 [HSA:859] [KO:K12959]
H02250 Early-onset vitamin B6-dependent epilepsy ... encodes a protein involved in pyridoxal phosphate (PLP) homeostasis. If patients are not effectively treated with vitamin B6 supplementation, they will have epilepsy with developmental delay early in life. Nervous system disease PLPBP [HSA:11212] [KO:K06997]
H02526 Disorders of adaptive immunity T cells and B cells are the primary cells of the adaptive immune system. B cells mediate antibody production and play a major role in antibody-mediated immunity. T cells govern cell-mediated immune responses ... Immune system disease (IMD13) UNC119 [HSA:9094] [KO:K23539]
(IMD41) IL2RA [HSA:3559] [KO:K05068]
(IMD46) TFRC [HSA:7037] [KO:K06503]
(IMD52) LAT [HSA:27040] [KO:K07362]
(IMD53) RELB [HSA:5971] [KO:K09253]
(IMD56) IL21R [HSA:50615] [KO:K05075]
(IMD60) BACH2 [HSA:60468] [KO:K09042]
(IMD62) ARHGEF1 [HSA:9138] [KO:K12330]
(IMD64) RASGRP1 [HSA:10125] [KO:K04350]
(IMD66) MRTFA [HSA:57591] [KO:K22525]
(IMD70) IVNS1ABP [HSA:10625] [KO:K15046]
(IMD72) NCKAP1L [HSA:3071] [KO:K05750]
(IMD76) FCHO1 [HSA:23149] [KO:K20042]
(IMD78) TPP2 [HSA:7174] [KO:K01280]
(IMD79) CD4 [HSA:920] [KO:K06454]
(IMD81) LCP2 [HSA:3937] [KO:K07361]
(IMD82) SYK [HSA:6850] [KO:K05855]
(IMD84) IKZF3 [HSA:22806] [KO:K09220]
(IMD86) SPPL2A [HSA:84888] [KO:K09596]
(IMD87) DEF6 [HSA:50619] [KO:K20072]
(IMD88) TBX21 [HSA:30009] [KO:K10166]
(IMD89) CARD10 [HSA:29775] [KO:K20912]
(IMD92) REL [HSA:5966] [KO:K09254]
(IMD93) FNIP1 [HSA:96459] [KO:K20400]
(IMD99) CTNNBL1 [HSA:56259] [KO:K12864]
H02691 Scalp-ear-nipple syndrome Scalp-ear-nipple syndrome (SENS) is a rare autosomal dominant condition that involves lesions of the scalp, malformed external ears, and absence of rudimentary nipples and breasts. It has been reported ... Congenital malformation KCTD1 [HSA:284252] [KO:K21754]
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