Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00095 | Ectodermal dysplasia and immunodeficiency | ... including skin, teeth, hair, eccrine glands, or nails. In the hypohidrotic/ anhidrotic form of ED (HED/EDA) the patient has no sweat glands, sparse scalp hair and rare conical teeth. Patients with EDA and ... | Immune system disease |
(EDAID1) IKBKG [HSA:8517] [KO:K07210] (EDAID2) NFKBIA [HSA:4792] [KO:K04734] |
|
| H00540 |
Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) Ectodermal dysplasia and immunodeficiency 1 (EDAID1) Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema |
... 'Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency', abbreviated as OLEDAID, is caused by termination codon mutations in the NEMO gene which encodes the essential modulator ... | Congenital malformation | IKBKG [HSA:8517] [KO:K07210] | |
| H00625 |
Tooth agenesis Hypodontia |
Tooth agenesis, or hypodontia/oligodontia, refers to the congenital absence of a few teeth without any systemic disorders. Tooth development is a complex process that involves interactions between the ... | Congenital malformation |
(STHAG1) MSX1 [HSA:4487] [KO:K09341] (STHAG3) PAX9 [HSA:5083] [KO:K09382] (STHAG4) WNT10A [HSA:80326] [KO:K01357] (STHAG7) LRP6 [HSA:4040] [KO:K03068] (STHAG8) WNT10B [HSA:7480] [KO:K01357] (STHAG9) GREM2 [HSA:64388] [KO:K23318] (STHAG10) TSPEAR [HSA:54084] [KO:K24437] (STHAGX1) EDA [HSA:1896] [KO:K05480] (DASS) LTBP3 [HSA:4054] [KO:K08023] |
|
| H00649 | Ectodermal dysplasia, hair-nail type | Ectodermal dysplasia (ECTD), hair-nail type is a rare condition involving only tissues of ectodermal origin. Patients show complete alopecia and primitive nails. Autosomal recessive type has previously ... | Congenital malformation |
(ECTD4) KRT85 [HSA:3891] [KO:K07605] (ECTD7) KRT74 [HSA:121391] [KO:K07605] (ECTD9) HOXC13 [HSA:3229] [KO:K09298] (ECTD10A/10B) EDAR [HSA:10913] [KO:K05162] (ECTD13) KREMEN1 [HSA:83999] [KO:K23091] |
|
| H00651 | Hypohidrotic ectodermal dysplasia | ... glands. HED is caused by defective epithelial-mesenchymal interaction that involves the Ectodysplasin/Edar/Edaradd signaling pathway. Congenital anhidrotic ectodermal dysplasia is a sex-linked disorder characterized ... | Congenital malformation |
(ECTD1) EDA [HSA:1896] [KO:K05480] (ECTD10A/10B) EDAR [HSA:10913] [KO:K05162] (ECTD11A/11B) EDARADD [HSA:128178] [KO:K23324] (ECTD12) KDF1 [HSA:126695] [KO:K23346] (ECTD15) CST6 [HSA:1474] [KO:K13902] |
|
| H00695 |
Mal de Meleda Meleda disease |
Mal de Meleda is an autosomal recessive palmoplantar keratoderma characterized by erythema of the palms and soles, followed by a diffuse yellowish hyperkeratosis. Keratinization extends onto the dorsal ... | Congenital malformation | SLURP1 [HSA:57152] [KO:K23681] | |
| H01245 | Immunodeficiency without anhidrotic ectodermal dysplasia | A NEMO mutant causing immunodeficiency without any sign of anhidrotic ectodermal dysplasia (EDA) has been identified. The mutation, which altered the exon 9 splice site, was present in cells of ectodermal ... | Primary immunodeficiency | IKBKG [HSA:8517] [KO:K07210] | |
| H01825 | Spondylometaphyseal dysplasia, Sedaghatian type | Sedaghatian type spondylometaphyseal dysplasia (SMDS) is a rare type of lethal congenital severe spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening ... | Congenital malformation | GPX4 [HSA:2879] [KO:K05361] | |
| H01863 |
Atopic myelitis Eosinophilic myelitis |
... in Japan. This disease has specific features of elevated serum IgE level, active reaction to mite or cedar pollen specific antigen and stepwise progression of mostly the sensory symptoms. Atopic myelitis ... | Immune system disease | ||
| H02264 | Palmoplantar keratoderma, Nagashima type | ... Achilles tendon area. Its clinical manifestations are similar to but milder than those of mal de Meleda. It has been reported that mutations in SERPINB7, encoding a member of the serine protease inhibitor ... | Congenital malformation | SERPINB7 [HSA:8710] [KO:K13964] | |
| H02338 | PEHO-like syndrome | ... disease comprising severe retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal oedema, and early death. Cases lacking either optic atrophy or cerebellar hypoplasia are often termed ... | Nervous system disease | CCDC88A [HSA:55704] [KO:K25392] | |
| H02351 | Cowpox | ... infect a broad range of hosts. Natural reservoir hosts of CPXV are wild rodents. Transmission to humans is through contact with infected animals, mostly domestic cats, which are predators of wild rodents. | Viral infectious disease | ||
| H02459 | Syndromic neurodevelopmental disorder | Syndromic neurodevelopmental disorder (NED) is a group of disorders that have a number of clinical features in addition to intellectual disability and developmental delay. Many genes that cause these syndromes ... | Congenital malformation |
(NEDALVS) WASF1 [HSA:8936] [KO:K05753] (NEDCPMD) NFASC [HSA:23114] [KO:K06757] (NEDIDHA) DOCK3 [HSA:1795] [KO:K05727] (NEDISHM) ZNF142 [HSA:7701] [KO:K24851] (NEDSSWI) DHPS [HSA:1725] [KO:K00809] (NEDMIAL) DHX30 [HSA:22907] [KO:K13185] (NEDIES) NCDN [HSA:23154] (NEDMOSBA) TMEM222 [HSA:84065] [KO:K20726] (NEDSGO) TBC1D2B [HSA:23102] [KO:K20166] (NEDEGE) NBEA [HSA:26960] [KO:K24183] (NEDSOA) THUMPD1 [HSA:55623] [KO:K06963] (NEDLBAS) AGO1 [HSA:26523] [KO:K11593] (NEDLDS) TIAM1 [HSA:7074] [KO:K05731] (NEDLC) GABBR1 [HSA:2550] [KO:K04615] (NEDGBA) ATP9A [HSA:10079] [KO:K26679] |
|
| H02461 | Neurodevelopmental disorder with microcephaly | Neurodevelopmental disorder (NED) with microcephaly is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying genetic causes ... | Congenital malformation |
(NEDMEBA) TRAPPC6B [HSA:122553] [KO:K20304] (NEDMCR) GEMIN4 [HSA:50628] [KO:K13132] (NDMSBA) PLAA [HSA:9373] [KO:K14018] (NEDMIBA) DYNC1I2 [HSA:1781] [KO:K10415] (NEDMABA) SMPD4 [HSA:55627] [KO:K12353] (NEDAHM) SVBP [HSA:374969] [KO:K23357] (NEDMCMS) TMX2 [HSA:51075] [KO:K25112] (NEDMEHM) MTHFS [HSA:10588] [KO:K01934] (NMIHBA) PRUNE1 [HSA:58497] [KO:K01514] (NEDHYMS) ADARB1 [HSA:104] [KO:K13194] (NEDSEBA) EXOC7 [HSA:23265] [KO:K07195] (NEDMISB) EXOC8 [HSA:149371] [KO:K19986] (NEDSOSB) SEC31A [HSA:22872] [KO:K14005] (NEDMSC) VPS50 [HSA:55610] [KO:K23288] (NEDMHS) CPSF3 [HSA:51692] [KO:K14403] (NEDMIMS) CHKA [HSA:1119] [KO:K14156] (NEDMISS) TRAPPC10 [HSA:7109] [KO:K20307] (NEDMVIC) DOHH [HSA:83475] [KO:K06072] (NEDSMBA) PPFIBP1 [HSA:8496] [KO:K27096] (NEDMIM) TTI1 [HSA:9675] [KO:K20403] (NEDGS) PCDHGC4 [HSA:56098] [KO:K16497] |
|
| H02470 | Neurodevelopmental disorder with structural brain abnormalities | Neurodevelopmental disorder (NED) with structural brain abnormalities is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying ... | Congenital malformation |
(NDAGSCW) RAB11B [HSA:9230] [KO:K07905] (NEDBAVC) DHX37 [HSA:57647] [KO:K14780] (NEDCHS) INTS8 [HSA:55656] [KO:K13145] (NEDCAS) BRAT1 [HSA:221927] [KO:K23112] (NEDEHCC) LNPK [HSA:80856] [KO:K23292] (NEDBAS) DLL1 [HSA:28514] [KO:K06051] (NEDSBAS) WDR45B [HSA:56270] [KO:K22991] (NEDSWMA) HPDL [HSA:84842] [KO:K24788] (NEDVIBA) HK1 [HSA:3098] [KO:K00844] (NEDBA) MAPK8IP3 [HSA:23162] [KO:K04436] (NECFM) NACC1 [HSA:112939] [KO:K10486] (NEDMHM) ARHGEF2 [HSA:9181] [KO:K12791] (NEDBASS) PTPN23 [HSA:25930] [KO:K18040] (NEDABA) ODC1 [HSA:4953] [KO:K01581] (NEDESBA) TRAPPC4 [HSA:51399] [KO:K20303] (NEDASB) NOVA2 [HSA:4858] [KO:K14944] (NEDCAM) GEMIN5 [HSA:25929] [KO:K13133] (NEDSCAC) MED27 [HSA:9442] [KO:K15170] (NEDCASB) SHMT2 [HSA:6472] [KO:K00600] (NEDHSB) SPATA5 [HSA:166378] [KO:K14575] (NEDMLHB) TAF8 [HSA:129685] [KO:K14649] (NEDSSBA) NSRP1 [HSA:84081] [KO:K13206] (NEDMLOB) INTS11 [HSA:54973] [KO:K13148] (NEDMSB) PI4K2A [HSA:55361] [KO:K13711] |
|
| H02715 | Neurodevelopmental disorder with defects of ubiquitin-proteasome system | The ubiquitin-proteasome system (UPS) is the major proteolytic system that controls protein degradation and it regulates many cellular processes, such as cell division, gene expression and signal transduction ... | Congenital malformation |
(NEDSG) UFC1 [HSA:51506] [KO:K12165] (NDHSAL) HECW2 [HSA:57520] [KO:K12168] (NEDAUS) CUL3 [HSA:8452] [KO:K03869] (NEDAMSS) IRF2BPL [HSA:64207] [KO:K22383] (NEDHMS) UBE4A [HSA:9354] [KO:K10596] (NEDSMB) UBE3C [HSA:9690] [KO:K10589] (NEDSSCC) HECTD4 [HSA:283450] [KO:K17849] (NEDMHAL) PSMB1 [HSA:5689] [KO:K02732] (STISS) PSMD12 [HSA:5718] [KO:K03035] (BKAH) PSMC1 [HSA:5700] [KO:K03062] (CAFDADD) TRAF7 [HSA:84231] [KO:K10646] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |