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Noonan syndrome with multiple lentigines
Summary
- Synonym
-
- Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
- Generalized lentiginosis
- Gorlin syndrome II
- LEOPARD syndrome
- Lentiginosis profusa syndrome
- Moynahan syndrome
- Multiple lentigines syndrome
- Progressive cardiomyopathic lentiginosis
- Definition
- A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.
- Super Class
- RASopathy autosomal dominant disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5728 | PTEN | phosphatase and tensin homolog |
Related Glycoprotein
