Details of Disease | DrugMAP

General Information of Disease (ID: DISZJKSC)

Disease Name	Cardiofaciocutaneous syndrome
Synonyms	congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure; cardio-facio-cutaneous syndrome; cardiofaciocutaneous syndrome; cardio-facial-cutaneous syndrome; CFC; cardiofaciocutaneous (CFC) syndrome; CFC syndrome
Definition	Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.
Disease Hierarchy	DISTATYK: Noonan syndrome and Noonan-related syndrome DISLRS4M: Ectodermal dysplasia DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISZJKSC: Cardiofaciocutaneous syndrome
Disease Identifiers	MONDO ID MONDO_0015280 MESH ID C535579 UMLS CUI C1275081 OMIM ID 115150 MedGen ID 266149 Orphanet ID 1340 SNOMED CT ID 403770008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 12 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HRAS	TT28ZON	Limited	Genetic Variation	[1]
NRAS	TTW2R9X	Limited	Biomarker	[2]
PTPN11	TT7WUAV	Disputed	Autosomal dominant	[3]
RAF1	TTB18GJ	Disputed	Autosomal dominant	[3]
RAF1	TTAN5W2	Disputed	Genetic Variation	[4]
KRAS	TTRHMTC	Strong	Autosomal dominant	[3]
KRAS	TTM8FR7	Strong	Genetic Variation	[5]
NRAS	TTW2R9X	Strong	Autosomal dominant	[6]
BRAF	TT0EOB8	Definitive	Autosomal dominant	[3]
MAP2K1	TTIDAPM	Definitive	Autosomal dominant	[3]
MAP2K1	TTIDAPM	Definitive	Genetic Variation	[5]
MAP2K2	TT8H9GB	Definitive	Autosomal dominant	[3]
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⏷ Show the Full List of 12 DTT(s)

This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CFC1	OT5DHGI8	Limited	Biomarker	[7]
PTPN11	OTFH9M73	Disputed	Autosomal dominant	[3]
RAF1	OT51LSFO	Disputed	Autosomal dominant	[3]
SHOC2	OTUNQ2CT	Disputed	Autosomal dominant	[3]
SOS1	OTTCWXC3	Disputed	Autosomal dominant	[3]
SGSM3	OTIB1P8A	moderate	Genetic Variation	[8]
KANSL1	OTYNSNNZ	Strong	Altered Expression	[9]
KRAS	OT78QCN8	Strong	Autosomal dominant	[3]
NRAS	OTVQ1DG3	Strong	Autosomal dominant	[6]
BRAF	OT7S81XQ	Definitive	Autosomal dominant	[3]
MAP2K1	OT4Y9NQI	Definitive	Autosomal dominant	[3]
MAP2K2	OTUE7Z91	Definitive	Autosomal dominant	[3]
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⏷ Show the Full List of 12 DOT(s)

References

1	Acute lymphoblastic leukemia in the context of RASopathies.Eur J Med Genet. 2016 Mar;59(3):173-8. doi: 10.1016/j.ejmg.2016.01.003. Epub 2016 Feb 5.
2	Genotype and phenotype spectrum of NRAS germline variants.Eur J Hum Genet. 2017 Jun;25(7):823-831. doi: 10.1038/ejhg.2017.65. Epub 2017 May 3.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
4	Disseminated glioneuronal tumors occurring in childhood: treatment outcomes and BRAF alterations including V600E mutation.J Neurooncol. 2016 Jun;128(2):293-302. doi: 10.1007/s11060-016-2109-x. Epub 2016 Mar 19.
5	Chondroblastoma-like mass of the temporal bone, secondary aneurysmal bone cyst, and intracerebral hemorrhage in a patient with cardiofaciocutaneous syndrome: case report.J Neurosurg Pediatr. 2019 May 24;24(2):153-158. doi: 10.3171/2019.3.PEDS18607.
6	A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010 Jan;42(1):27-9. doi: 10.1038/ng.497. Epub 2009 Dec 6.
7	A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.Hum Genet. 2002 May;110(5):422-8. doi: 10.1007/s00439-002-0709-3. Epub 2002 Apr 10.
8	Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.Eur J Med Genet. 2016 Nov;59(11):559-563. doi: 10.1016/j.ejmg.2016.10.006. Epub 2016 Oct 14.
9	KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.BMC Med Genet. 2015 Aug 22;16:68. doi: 10.1186/s12881-015-0211-0.