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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00419 | Congenital generalized lipodystrophy | Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by near total absence of adipose tissue from birth. Several metabolic alterations in carbohydrate (diabetes ... | Inherited metabolic disorder |
(CGL1) AGPAT2 [HSA:10555] [KO:K13509] (CGL2) BSCL2 [HSA:26580] [KO:K19365] (CGL3) CAV1 [HSA:857] [KO:K06278] (CGL4) CAVIN1 [HSA:284119] [KO:K19387] (CGL5) PCYT1A [HSA:5130] [KO:K00968] |
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| H01821 | Spondylometaphyseal dysplasia with cone-rod dystrophy | ... are uncommon. In 2004, a unique form of SMD associated with cone-rod dystrophy (CRD) was described and defined as SMD-CRD. Loss-of-function mutations in PCYT1A have been reported as the cause of SMD-CRD. | Congenital malformation | PCYT1A [HSA:5130] [KO:K00968] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |