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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00288 |
Familial Mediterranean fever Familial hereditary periodic fever syndromes |
... recurrent inflammatory fevers with sterile peritonitis, pleuritis, arthritis, myalgia and erysipelas-like skin lesions. Renal amyloidosis is the most severe complication, leads to renal failure. These symptoms ... | Immune system disease | MEFV [HSA:4210] [KO:K12803] | |
| H00289 |
Recurrent hydatidiform moles Familial biparental hydatidiform |
... diploid and have a biparental contribution to their genome. The molar tissues show abnormal epigenetic marking of maternal imprinted genes. Affected women have biallelic mutations in the NLRP7 gene (NALP7), ... | Reproductive system disease |
(HYDM) NALP7 [HSA:199713] [KO:K20864] (HYDM2) KHDC3L [HSA:154288] [KO:K25076] (HYDM3) MEI1 [HSA:150365] [KO:K25318] (HYDM4) C11orf80 [HSA:79703] [KO:K24789] |
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| H00291 |
Familial chilblain lupus (FCL) Chilblain lupus erythematosus (CHLE) |
Familial chilblain lupus (FCL) is a rare, inherited form of cutaneous lupus with prominent skin manifestations in acral parts of the body. Two families with autosomal dominant-inherited chilblain lupus ... | Immune system disease |
(CHBL1) TREX1 [HSA:11277] [KO:K10790] (CHBL2) SAMHD1 [HSA:25939] [KO:K22544] |
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| H00296 | Defects in RecQ helicases | ... characterized by the premature development of features that resemble aging. RTS is characterized by skin and skeletal abnormalities, signs of premature aging, and cancer predisposition, especially to osteosarcomas ... | Congenital malformation |
BLM [HSA:641] [KO:K10901] WRN [HSA:7486] [KO:K10900] RECQL4 [HSA:9401] [KO:K10730] |
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| 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 | ... [DS:H01399]. Human infections can occur from infected animals or animal products through three main routes: skin (cutaneous), lung (inhalation) and mouth (gastrointestinal). The disease is rare, but the potential ... | Bacterial infectious disease | ||
| H00330 | Methicillin-resistant Staphylococcal aureus (MRSA) infection | ... (HA-MRSA) is usually associated with pneumonia, urinary tract, blood stream, and surgical wound infections. In contrast, CA-MRSA strains are overwhelmingly associated with skin and soft tissue infections. | Bacterial infectious disease | hsa05150 Staphylococcus aureus infection | |
| H00342 | Tuberculosis | ... than from any other single bacterial pathogen. Inhalation is the predominant pathway of infection, making pulmonary tuberculosis the most common form of tuberculosis. Tuberculosis may arise either from ... | Bacterial infectious disease | hsa05152 Tuberculosis |
IFNG (protection) [HSA:3458] [KO:K04687] IFNGR1 (susceptibility/protection) [HSA:3459] [KO:K05132] IFNGR2 [HSA:3460] [KO:K05133] HLA-DRB1 (susceptibility) [HSA:3123] [KO:K06752] HLA-DQB1 (susceptibility) [HSA:3119] [KO:K06752] SLC11A1 (susceptibility) [HSA:6556] [KO:K12347] VDR (susceptibility) [HSA:7421] [KO:K08539] MBL2 (protection) [HSA:4153] [KO:K03991] CCL2 (susceptibility) [HSA:6347] [KO:K14624] CD209 (susceptibility) [HSA:30835] [KO:K06563] CISH (susceptibility) [HSA:1154] [KO:K04701] IRGM (protection) [HSA:345611] [KO:K14139] SP110 (susceptibility) [HSA:3431] [KO:K24503] TIRAP (protection) [HSA:114609] [KO:K05403] TLR2 (susceptibility) [HSA:7097] [KO:K10159] |
| H00344 |
Leprosy Hansen disease |
... Mycobacterium leprae (M. leprae) and the more recently discovered Mycobacterium lepromatosis (M. lepromatosis). It primarily affects peripheral nerves, skin and mucosa particularly the upper respiratory tract. | Bacterial infectious disease |
(LPRS3) TLR2 [HSA:7097] [KO:K10159] (LPRS4) LTA [HSA:4049] [KO:K05468] (LPRS5) TLR1 [HSA:7096] [KO:K05398] |
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| H00345 | Nocardiosis | ... disease is the most common clinical presentation especially in immunocompromised patients. Nocardiosis also occurs in disseminated form, affecting lungs, central nervous system, skin, and the soft tissues. | Bacterial infectious disease | ||
| H00353 |
Lyme borreliosis Lyme disease |
... the tick-borne spirochetes Borrelia. Localized infection is typically manifested by erythema migrans skin lesions. A broad variety of peripheral nerve disorders (Lyme neuroborreliosis) can occur as well ... | Bacterial infectious disease | ||
| H00354 | Syphilis | ... caused by the spirochete Treponema pallidum subsp. pallidum. It is characterized by genital ulceration, skin rash, and development of serious systemic disease. Syphilis may also alter the course of HIV disease ... | Bacterial infectious disease | ||
| H00355 |
Leptospirosis Weil disease |
... urine into the environment, and then usually gain entry to the host via mucosal surfaces or damaged skin. Clinical symptoms range from a self-resolving acute febrile illness to severe, sometimes fatal disease ... | Bacterial infectious disease | ||
| H00365 |
Herpes simplex virus infection HSV infection |
... ganglia (DRG) for the entire life of the host. HSV infects the human host via mucosal surfaces or damaged skin, and most primary infections are asymptomatic. HSV-1 is mainly associated with orofacial lesions ... | Viral infectious disease | hsa05168 Herpes simplex virus 1 infection | |
| H00367 |
Infectious mononucleosis Epstein-Barr virus (EBV) infection |
... establishes a life-long asymptomatic infection in B cells and can contribute to oncogenesis including Burkitt's lymphoma, nasopharyngeal carcinoma, Hodgkin lymphoma, and post-transplant B cell lymphomas. | Viral infectious disease | hsa05169 Epstein-Barr virus infection | |
| H00372 |
Smallpox Variola |
Smallpox is a contagious disease caused by the variola virus, one of the Orthopoxviruses that causes skin eruption and marked toxemia. The disease was officially declared eradicated in 1979 following intensive ... | Viral infectious disease | ||
| H00374 | Viral wart | ... papillomaviruses (HPVs) are small DNA viruses of the papovavirus family that can be associated with various skin warts including common warts, plantar warts, plane warts, condyloma acuminatum, Bowenoid papulosis ... | Viral infectious disease | ||
| H00403 | Disorders of nucleotide excision repair | ... which is characterized by photosensitivity and mild freckling but without neurological abnormalities or skin tumors. TTD is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ichthyosis ... | Congenital malformation |
(XPA) XPA [HSA:7507] [KO:K10847] (XPB/CS, TTD) ERCC3 [HSA:2071] [KO:K10843] (XPC) XPC [HSA:7508] [KO:K10838] (XPD, TTD) ERCC2 [HSA:2068] [KO:K10844] (XPE) DDB2 [HSA:1643] [KO:K10140] (XPE-2) DDB1 [HSA:1642] [KO:K10610] (XPF/CS) ERCC4 [HSA:2072] [KO:K10848] (XPG/CS, COFS3) ERCC5 [HSA:2073] [KO:K10846] (XPV) POLH [HSA:5429] [KO:K03509] (CSA) ERCC8 [HSA:1161] [KO:K10570] (CSB, DSC, UVS, COFS1) ERCC6 [HSA:2074] [KO:K10841] (TTD) GTF2H5 [HSA:404672] [KO:K10845] (COFS4) ERCC1 [HSA:2067] [KO:K10849] |
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| H00406 | Acquired immunodeficiency syndrome (AIDS) | ... HIV/AIDS can be ascribed to the profound immune deficiency in patients. HIV infection also increases the risk of autoimmune diseases and malignancies such as non-Hodgkin's lymphoma and Kaposi's sarcoma. | Immune system disease; Viral infectious disease | hsa05170 Human immunodeficiency virus 1 infection | |
| H00410 | Maturity onset diabetes of the young (MODY) | ... and primary insulin secretion defects. Mutations in six genes, encoding the glucose sensor enzyme glucokinase and five transcription factors that participate in a regulatory network essential for adult beta ... | 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] |
| H00441 | Progressive osseous heteroplasia | ... disorder where heterozygous inactivating mutations in the GNAS gene have been identified. Patients with POH characteristically develop extensive bone formation within the superficial dermal layer of the skin. | Musculoskeletal disease | GNAS [HSA:2778] [KO:K04632] | |
| H00510 | Feingold syndrome | ... an autosomal dominant trait. Recently, individuals sharing the skeletal abnormalities of FGLDS but lacking mutations in MYCN, were found to harbour deletions of the MIR17HG gene. These individuals share ... | Congenital malformation |
(FGLDS1) MYCN [HSA:4613] [KO:K09109] (FGLDS2) MIR17HG [HSA:407975] |
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| H00531 | Venous malformations | ... occur in the head and neck region. Birthmarks in cutaneomucosal venous malformation appear mainly on skin and mucosa, whereas plaques in glomuvenous malformation are located on the extremities, usually nodular ... | Congenital malformation |
(sporadic, cutaneomucosal) TIE2 [HSA:7010] [KO:K05121] (glomuvenous) GLMN [HSA:11146] [KO:K23345] |
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| 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 ... | Chromosomal abnormality | ||
| H00557 | Cutis laxa | ... disorders with variable organ involvement. The most obvious symptom of cutis laxa is loose and sagging skin due to reduced elastic fibers in the dermis. The phenotype of autosomal recessive cutis laxa II includes ... | Congenital malformation |
(ADCL1) ELN [HSA:2006] [KO:K14211] (ADCL2/ARCL1A) FBLN5 [HSA:10516] [KO:K17340] (ADCL3/ARCL3A) ALDH18A1 [HSA:5832] [KO:K12657] (ARCL1B) EFEMP2 [HSA:30008] [KO:K19866] (ARCL1C) LTBP4 [HSA:8425] [KO:K08023] (ARCL1D) EFEMP1 [HSA:2202] [KO:K18262] (ARCL2A/WSS) ATP6V0A2 [HSA:23545] [KO:K02154] (ARCL2B/ARCL3B) PYCR1 [HSA:5831] [KO:K00286] (ARCL2C) ATP6V1E1 [HSA:529] [KO:K02150] (ARCL2D) ATP6V1A [HSA:523] [KO:K02145] (ARCL2E) LTBP1 [HSA:4052] [KO:K19559] |
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| H00558 | Geroderma osteodysplasticum | Geroderma osteodysplasticum is a rare autosomal recessive disorder characterized by wrinkled skin and severe osteopenia with spontaneous fractures and the lack of large open fontanels. Mutations have been ... | Congenital malformation |
SCYL1BP1 [HSA:92344] [KO:K19748] PYCR1 [HSA:5831] [KO:K00286] |
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| H00560 | Pseudoxanthoma elasticum | ... disorder characterized by aberrant mineralization of elastic fibers in connective tissue affecting the skin, eyes and the arterial blood vessels. The mutated gene is identified as ABCC6, an ATP-binding cassette ... | Congenital malformation |
(PXE) ABCC6 [HSA:368] [KO:K05669] (PXE) XYLT1 [HSA:64131] [KO:K00771] (PXE) XYLT2 [HSA:64132] [KO:K00771] (PXE-like) GGCX [HSA:2677] [KO:K10106] |
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| H00562 | Dystrophinopathies | ... (DMD) and reduced levels or abnormal configuration of dystrophin (BMD) leads to membrane fragility making muscle cells susceptible to damage from contraction. Secondary increase in free radicals and activation ... | Nervous system disease; Musculoskeletal disease | DMD [HSA:1756] [KO:K10366] | |
| H00564 | Primary ciliary dyskinesia | Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder with recurrent oto-sinopulmonary infections, bronchiectasis, and infertility owing to impaired motile ciliary function. Alterations in ... | Respiratory system disease |
(CILD1) DNAI1 [HSA:27019] [KO:K10409] (CILD2) DNAAF3 [HSA:352909] [KO:K19752] (CILD3) DNAH5 [HSA:1767] [KO:K10408] (CILD5) HYDIN [HSA:54768] [KO:K17570] (CILD6) NME8 [HSA:51314] [KO:K19868] (CILD7) DNAH11 [HSA:8701] [KO:K10408] (CILD9) DNAI2 [HSA:64446] [KO:K11143] (CILD10) DNAAF2 [HSA:55172] [KO:K19751] (CILD11) RSPH4A [HSA:345895] [KO:K19756] (CILD12) RSPH9 [HSA:221421] [KO:K19757] (CILD13) DNAAF1 [HSA:123872] [KO:K19750] (CILD14) CCDC39 [HSA:339829] [KO:K23729] (CILD15) CCDC40 [HSA:55036] [KO:K23730] (CILD16) DNAL1 [HSA:83544] [KO:K10411] (CILD17) CCDC103 [HSA:388389] [KO:K23731] (CILD18) DNAAF5 [HSA:54919] [KO:K19759] (CILD19) DNAAF11 [HSA:23639] [KO:K19753] (CILD20) ODAD1 [HSA:93233] [KO:K23732] (CILD21) DRC1 [HSA:92749] [KO:K19754] (CILD22) ZMYND10 [HSA:51364] [KO:K24030] (CILD23) ODAD2 [HSA:55130] [KO:K24125] (CILD24) RSPH1 [HSA:89765] [KO:K19755] (CILD25) DNAAF4 [HSA:161582] [KO:K19758] (CILD26) CFAP298 [HSA:56683] [KO:K24229] (CILD27) CCDC65 [HSA:85478] [KO:K23728] (CILD28) SPAG1 [HSA:6674] [KO:K19870] (CILD29) CCNO [HSA:10309] [KO:K10861] (CILD30) ODAD3 [HSA:115948] [KO:K23733] (CILD32) RSPH3 [HSA:83861] [KO:K23965] (CILD33) GAS8 [HSA:2622] [KO:K19942] (CILD34) DNAJB13 [HSA:374407] [KO:K09519] (CILD35) ODAD4 [HSA:83538] [KO:K24254] (CILD36) DNAAF6 [HSA:139212] [KO:K24253] (CILD37) DNAH1 [HSA:25981] [KO:K10408] (CILD38) CFAP300 [HSA:85016] [KO:K24230] (CILD39) LRRC56 [HSA:115399] [KO:K25425] (CILD40) DNAH9 [HSA:1770] [KO:K10408] (CILD41) GAS2L2 [HSA:246176] [KO:K24627] (CILD42) MCIDAS [HSA:345643] [KO:K26119] (CILD43) FOXJ1 [HSA:2302] [KO:K09402] (CILD44) NEK10 [HSA:152110] [KO:K20879] (CILD45) TTC12 [HSA:54970] [KO:K24652] (CILD46) STK36 [HSA:27148] [KO:K06228] (CILD47) TP73 [HSA:7161] [KO:K10148] (CILD48) NME5 [HSA:8382] [KO:K20790] (CILD49) CFAP74 [HSA:85452] [KO:K25607] (CILD50) DNAH7 [HSA:56171] [KO:K10408] (CILD51) BRWD1 [HSA:54014] [KO:K11798] (CILD52) DAW1 [HSA:164781] [KO:K19760] (CILD53) CLXN [HSA:79645] [KO:K27179] |
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| H00584 | Epidermolysis bullosa simplex | ... dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily blister. The simplex forms of epidermolysis bullosa (EBS) demonstrate blister formation ... | Congenital malformation |
(EBS1) KRT14 [HSA:3861] [KO:K07604] (EBS2) KRT5 [HSA:3852] [KO:K07605] (EBS3) DST [HSA:667] [KO:K10382] (EBS4) EXPH5 [HSA:23086] [KO:K22236] (EBS5) PLEC1 [HSA:5339] [KO:K10388] (EBS6) KLHL24 [HSA:54800] [KO:K10461] (EBS7) CD151 [HSA:977] [KO:K06537] |
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| H00585 | Epidermolysis bullosa, hemidesmosomal | Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The conditions in which the blister formation occurs at the level of hemidesmosome ... | Congenital malformation | PLEC [HSA:5339] [KO:K10388] | |
| H00586 | Epidermolysis bullosa, junctional | Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The junctional forms of epidermolysis bullosa (JEB) are characterized by blister ... | Congenital malformation |
(JEB1A/1B) LAMB3 [HSA:3914] [KO:K06244] (JEB2A/2B/2C) LAMA3 [HSA:3909] [KO:K06240] (JEB3A/3B) LAMC2 [HSA:3918] [KO:K06246] (JEB4) COL17A1 [HSA:1308] [KO:K07603] (JEB5A/5B) ITGB4 [HSA:3691] [KO:K06525] (JEB6) ITGA6 [HSA:3655] [KO:K06485] (JEB7) ITGA3 [HSA:3675] [KO:K06482] |
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| H00587 | Epidermolysis bullosa, dystrophica | Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The dystrophic forms of epidermolysis bullosa, in which tissue separation occurs ... | Congenital malformation | COL7A1 [HSA:1294] [KO:K16628] | |
| H00588 | Kindler syndrome | Kindler syndrome is a rare autosomal recessive disease characterized by blister, poikiloderma, skin atrophy, and photosensitivity. | Skin disease | KIND1 [HSA:55612] [KO:K17082] | |
| H00592 |
Calpainopathy Limb-girdle muscular dystrophy 2A |
... muscle weakness and atrophy of the shoulder and pelvic girdle musculature, an elevated serum creatine kinase activity and a degeneration/regeneration pattern in muscular biopsy samples. Recently, families ... | Nervous system disease; Musculoskeletal disease | (LGMDR1/LGMDD4) CAPN3 [HSA:825] [KO:K08573] | |
| H00596 |
Nonaka myopathy (NM) Nonaka distal myopathy Hereditary inclusion body myopathy (HIBM) |
... progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that encodes a bifunctional enzyme which catalyzes the rate-limiting step in sialic ... | Nervous system disease; Musculoskeletal disease | GNE [HSA:10020] [KO:K12409] | |
| H00601 | Hutchinson-Gilford progeria syndrome | ... born with HGPS begin to develop micrognathia, alopecia, prominent scalp vein, and wrinkled, aged-looking skin within the first year of life. Severe premature atherosclerosis can cause the death at an average ... | Inherited metabolic disorder | LMNA [HSA:4000] [KO:K12641] | |
| H00614 | Hyaline fibromatosis syndrome | ... disease. Abnormal accumulation of an unidentified hyaline material in body tissues can lead to joint contractures, osteopenia, thickened skin with hyperpigmentation, gingival hypertrophy, and diarrhea. | Musculoskeletal disease | CMG2 [HSA:118429] [KO:K20909] | |
| H00621 |
Alopecia neurologic defects and endocrinopathy syndrome ANE syndrome |
... hypogonadism, central adrenal insufficiency, short stature, microcephaly, and several other skeletal and skin abnormalities. The syndrome is caused by decreased expression of the nucleolar protein RBM28, known ... | Ribosomopathy | RBM28 [HSA:55131] [KO:K14573] | |
| H00638 |
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome EEC syndrome |
... ectrodactyly, the lobster claw-like deformities of the hands and feet, ectodermal dysplasia affecting skin, hair, and nails, and cleft lip with or without cleft palate. Other symptoms include anomalies of ... | Congenital malformation | TP63 [HSA:8626] [KO:K10149] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |