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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 |
|---|---|---|---|
| 9365 | KL | klotho | |
| 22925 | PLA2R1 | phospholipase A2 receptor 1 | |
| 22933 | SIRT2 | sirtuin 2 | |
| 51548 | SIRT6 | sirtuin 6 | |
| 55556 | ENOSF1 | enolase superfamily member 1 | |
| 79661 | NEIL1 | nei like DNA glycosylase 1 | |
| 151056 | PLB1 | phospholipase B1 | |
| 159371 | SLC35G1 | solute carrier family 35 member G1 |
