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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00457 | Primary hypertrophic osteoarthropathy | ... closure, digital clubbing, arthropathy, acro-osteolysis, periostosis, and pachydermia. Mutations in HPGD gene and SLCO2A1 gene, which encodes 15-hydroxyprostaglandin dehydrogenase and prostaglandin transporter ... | Musculoskeletal disease |
HPGD [HSA:3248] [KO:K00069] SLCO2A1 [HSA:6578] [KO:K14345] |
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| H01079 |
3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency PHGDH Deficiency |
3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is a rare autosomal recessive disorder caused by a defect in the synthesis of the amino acid L-serine characterized clinically by congenital microcephaly ... | Inherited metabolic disorder | PHGDH [HSA:26227] [KO:K00058] | |
| H01082 | Phosphoserine aminotransferase deficiency | ... hypertonia, and psychomotor retardation. The biochemical and clinical features of PSAT deficiency shared some of the features of 3-PGDH deficiency [DS:H01079]. Mutations in the PSAT1 gene have been identified. | Inherited metabolic disorder | PSAT1 [HSA:29968] [KO:K00831] | |
| H01246 |
Isolated congenital nail clubbing Isolated congenital digital clubbing |
... segments of fingers and toes with thickened nails due to proliferation of the connective tissues and abnormal function of the nail matrix. It has been reported that mutation in the HPGD gene underlies ICNC. | Congenital malformation | HPGD [HSA:3248] [KO:K00069] |
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