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amelogenesis imperfecta type 1G
Summary
- Synonym
-
- AI1G
- AIGFS
- ERS
- amelogenesis imperfecta and gingival fibromatosis syndrome
- amelogenesis imperfecta hypoplastic with nephrocalcinosis
- amelogenesis imperfecta type IG
- enamel-renal syndrome
- enamel-renal-gingival syndrome
- Definition
- An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.
- Super Class
- amelogenesis imperfecta autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110066
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 781 | CACNA2D1 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | |
| 1645 | AKR1C1 | aldo-keto reductase family 1 member C1 | |
| 1646 | AKR1C2 | aldo-keto reductase family 1 member C2 | |
| 55858 | TMEM165 | transmembrane protein 165 | |
| 64386 | MMP25 | matrix metallopeptidase 25 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54289 | Voltage-dependent calcium channel subunit alpha-2/delta-1 | |
| Q04828 | Aldo-keto reductase family 1 member C1 | |
| Q9HC07 | Putative divalent cation/proton antiporter TMEM165 | |
| Q9NPA2 | Matrix metalloproteinase-25 |
