Cardiofaciocutaneous Syndrome 3; Cfc3

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).

Genes related to Cardiofaciocutaneous Syndrome 3; Cfc3

MAP2K1

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Clinical Features

Top most frequent phenotypes and symptoms related to Cardiofaciocutaneous Syndrome 3; Cfc3

Seizures
Global developmental delay
Generalized hypotonia
Scoliosis
Growth delay
Nystagmus
Failure to thrive
Muscular hypotonia
Hypoplasia of the corpus callosum
Cardiomyopathy

And another 14 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Cardiofaciocutaneous Syndrome 3; Cfc3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MAP2K1 Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). MAP2K1 Specificity 100 % Genes 100 %
MAP2K1 Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories (United States). MAP2K1 Specificity 100 % Genes 100 %
MAP2K1 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories (United States). MAP2K1 Specificity 100 % Genes 100 %
MAP2K2 Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). MAP2K1 Specificity 100 % Genes 100 %
MAP2K2 Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories (United States). MAP2K1 Specificity 100 % Genes 100 %
MAP2K2 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories (United States). MAP2K1 Specificity 100 % Genes 100 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen. By Baylor Miraca Genetics Laboratories (United States). RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...) View the complete list with 9 more genes Panel complete gene list RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS, JAG1, KRAS, MAP2K1, MAP2K2, MECP2, NRAS, PTPN11, RAD21, RAF1 Specificity 4 % Genes 100 %
Non-immune Hydrops Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...) View the complete list with 66 more genes Panel complete gene list RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9, CDAN1, KAT6B, ALG1, CHRNA1, CHRND, CHRNG, CANT1, KIAA0586, CLCNKA, CLCNKB, SUMF1, PEX26, FAT4, DHCR7, PIEZO1, WDR35, CCBE1, GNPTAB, FGFR3, FOXC2, G6PD, GALNS, GATA1, GBA, GBE1, GLA, GLB1, GUSB, HADHA, HADHB, HRAS, IDUA, FOXP3, KLF1, KIF23, KRAS, LBR, LIPA, LZTR1, MAP2K1, MAP2K2, MID1, KMT2D, ASAH1, MVK, NEU1, NPC1, NRAS, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PIGA, PKLR, PMM2, CTSA, PTH1R, PTPN11, PEX19, PEX5, RAF1, RASA1 Specificity 2 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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