RASopathy

rare

Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.

Identifiers: MONDO:0021060 Orphanet:536391
Part of: Disease by molecular mechanism Hereditary disease
Also known as: disorder of Ras protein signal transduction · Ras protein signal transduction disease

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Noonan syndrome and Noonan-related syndrome	MONDO:0020297	29
Neurofibromatosis type 1	MONDO:0018975	3	NF1
Neurofibromatosis-Noonan syndrome	MONDO:0011035	1	NF1
CBL-related disorder	MONDO:0013308		CBL

Rare disease

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