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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00557 | Cutis laxa | Cutis laxa is a heterogeneous group of connective tissue disorders with variable organ involvement. The most obvious symptom of cutis laxa is loose and sagging skin due to reduced elastic fibers in the ... | 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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| H00904 |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Urban-Rifkin-Davis syndrome |
... distress with cystic and atelectatic changes in the lungs could be fatal in this disease. Mutations in LTBP4 lead to lack of deposition of LTBP4 into the extracellular matrix and results in increased activity ... | Congenital malformation | LTBP4 [HSA:8425] [KO:K08023] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |