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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00290 | Aicardi-Goutieres syndrome | ... is lethal in ~40% of cases. It can be caused by mutations in the following genes, TREX1, RNaseH2 and SAMHD1 that lead to excessive intracellular accumulation of DNA and abnormal type I IFN metabolism. | Immune system disease |
(AGS1) TREX1 [HSA:11277] [KO:K10790] (AGS2) RNASEH2B [HSA:79621] [KO:K10744] (AGS3) RNASEH2C [HSA:84153] [KO:K10745] (AGS4) RNASEH2A [HSA:10535] [KO:K10743] (AGS5) SAMHD1 [HSA:25939] [KO:K22544] (AGS6) ADAR [HSA:103] [KO:K12968] (AGS7) IFIH1 [HSA:64135] [KO:K12647] (AGS8) LSM11 [HSA:134353] [KO:K25592] (AGS9) RNU7-1 [HSA:100147744] |
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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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| H00609 | Persistent Mullerian duct syndrome | ... phenotypically normal males. The syndrome is caused either by a mutation in the Anti-Mullerian hormone (AMH) gene or the AMH receptor gene (AMHR2). AMH is secreted mainly by immature Sertoli cells at the time ... | Reproductive system disease |
(Type I) AMH [HSA:268] [KO:K04665] (Type II) AMHR2 [HSA:269] [KO:K04672] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |