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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00256 | Familial glucocorticoid deficiency | Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by glucocorticoid deficiency despite high levels of plasma ACTH. Affected individuals typically present within ... | Endocrine and metabolic disease |
(FGD1) MC2R [HSA:4158] [KO:K04200] (FGD2) MRAP [HSA:56246] [KO:K22398] (FGD4) NNT [HSA:23530] [KO:K00323] (FGD5) TXNRD2 [HSA:10587] [KO:K22182] |
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| H00569 |
Aarskog-Scott syndrome Faciogenital dysplasia |
... by craniofacial, skeletal, and urogenital malformations and short stature. Mutations in the only known causative gene FGD1 are found in about one-fifth of the cases with the clinical diagnosis of AAS. | Congenital malformation | FGD1 [HSA:2245] [KO:K05720] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |