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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Cockayne syndrome
Summary
- Synonym
-
- Neill-Dingwall syndrome
- Definition
- A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
- Super Class
- autosomal recessive disease syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 35 | ACADS | acyl-CoA dehydrogenase short chain | |
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 217 | ALDH2 | aldehyde dehydrogenase 2 family member | |
| 231 | AKR1B1 | aldo-keto reductase family 1 member B | |
| 275 | AMT | aminomethyltransferase | |
| 308 | ANXA5 | annexin A5 | |
| 410 | ARSA | arylsulfatase A | |
| 412 | STS | steroid sulfatase | |
| 414 | ARSD | arylsulfatase D | |
| 570 | BAAT | bile acid-CoA:amino acid N-acyltransferase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08842 | Steryl-sulfatase | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P14618 | Pyruvate kinase PKM | |
| P15121 | Aldo-keto reductase family 1 member B1 | |
| P15289 | Arylsulfatase A | |
| P15328 | Folate receptor alpha | |
| P16278 | Beta-galactosidase | |
| P20815 | Cytochrome P450 3A5 | |
| P21964 | Catechol O-methyltransferase | |
| P23434 | Glycine cleavage system H protein, mitochondrial |
