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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
progeria
Summary
- Synonym
-
- HGPS
- Hutchinson Gilford syndrome
- Hutchinson-Gilford Progeria syndrome
- Hutchinson-Gilford disease
- Definition
- A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.
- Super Class
- autosomal dominant disease progeroid syndrome
External Links
- Disease Ontology
- DOID:3911
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 176 | ACAN | aggrecan | |
| 249 | ALPL | alkaline phosphatase, biomineralization associated | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 847 | CAT | catalase | |
| 1593 | CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | |
| 1604 | CD55 | CD55 molecule (Cromer blood group) | |
| 1634 | DCN | decorin | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2131 | EXT1 | exostosin glycosyltransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04040 | Catalase | |
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme | |
| P05362 | Intercellular adhesion molecule 1 | |
| P07585 | Decorin | |
| P07741 | Adenine phosphoribosyltransferase | |
| P08174 | Complement decay-accelerating factor | |
| P08236 | Beta-glucuronidase | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P12821 | Angiotensin-converting enzyme |
