CFC1
MCID: CRD013
MIFTS: 63

Cardiofaciocutaneous Syndrome (CFC1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases, Cardiovascular diseases

Aliases & Classifications for Cardiofaciocutaneous Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Cardiofaciocutaneous Syndrome:

Name: Cardiofaciocutaneous Syndrome 52 11 23 48 24 25 54 12 13
Cfc Syndrome 11 23 48 24 25 54 70 50
Cardio-Facio-Cutaneous Syndrome 48 24 25 70 27
Cardiofaciocutaneous Syndrome 1 70 27
 
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities and Growth Failure 48
Cardio-Facial-Cutaneous Syndrome 11
Cfcs 70
Cfc1 70

Characteristics:

Orphanet epidemiological data:

54
cardiofaciocutaneous syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

64
cardiofaciocutaneous syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: congenital onset

GeneReviews:

23
Penetrance: penetrance is complete in cfc syndrome...


Classifications:



External Ids:

OMIM52 115150
Disease Ontology11 DOID:0060233
ICD1030 Q87.8
Orphanet54 ORPHA1340
UMLS via Orphanet69 C1275081
ICD10 via Orphanet31 Q87.8
MESH via Orphanet40 C535579
MedGen37 C1275081

Summaries for Cardiofaciocutaneous Syndrome

About this section
OMIM:52 Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial... (115150) more...

MalaCards based summary: Cardiofaciocutaneous Syndrome, also known as cfc syndrome, is related to cardiofaciocutaneous syndrome 3 and cardiofaciocutaneous syndrome 2, and has symptoms including Array, Array and Array. An important gene associated with Cardiofaciocutaneous Syndrome is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways are p38MAPK events and VEGFR3 signaling in lymphatic endothelium. Affiliated tissues include heart, skin and tongue, and related mouse phenotypes are Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation and Increased cell migration.

Disease Ontology:11 A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is that has material basis in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.

Genetics Home Reference:25 Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe.

NIH Rare Diseases:48 Cardiofaciocutaneous (cfc) syndrome is a disorder that affects many parts of the body, particularly the heart, face, skin, and hair. people with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. the signs and symptoms of cfc syndrome overlap significantly with those of two other conditions, costello syndrome and noonan syndrome. these syndromes belong to a group of related conditions called the rasopathies, which are distinguished by their genetic causes and specific pattern of features. it can sometimes be hard to tell these conditions apart in infancy. cfc syndrome is usually caused by a mutation in the braf gene, but can also be due to a mutation in the map2k1, map2k2 or kras gene. it is an autosomal dominant condition, but most cases are not inherited, due to a new mutation that occurs for the first time in an affected person. treatment depends on the symptoms in each person and may include surgery for heart defects. last updated: 5/6/2015

UniProtKB/Swiss-Prot:70 Cardiofaciocutaneous syndrome 1: A multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices.

Wikipedia:71 Cardiofaciocutaneous Syndrome (CFC syndrome) is an extremely rare and serious genetic disorder. more...

GeneReviews for NBK1186

Related Diseases for Cardiofaciocutaneous Syndrome

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Diseases in the Cardiofaciocutaneous Syndrome family:

Cardiofaciocutaneous Syndrome 2 Cardiofaciocutaneous Syndrome 3
Cardiofaciocutaneous Syndrome 4 Braf-Related Cardiofaciocutaneous Syndrome
Kras-Related Cardiofaciocutaneous Syndrome Map2k1-Related Cardiofaciocutaneous Syndrome
Map2k2-Related Cardiofaciocutaneous Syndrome

Diseases related to Cardiofaciocutaneous Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1cardiofaciocutaneous syndrome 312.1
2cardiofaciocutaneous syndrome 212.1
3cardiofaciocutaneous syndrome 412.1
4braf-related cardiofaciocutaneous syndrome11.7
5kras-related cardiofaciocutaneous syndrome11.7
6map2k1-related cardiofaciocutaneous syndrome11.7
7map2k2-related cardiofaciocutaneous syndrome11.7
8transposition of the great arteries, dextro-looped 111.4
9heart disease11.4
10heterotaxy11.4
11biliary atresia11.3
12transposition of the great arteries11.3
13heterotaxy, visceral, 2, autosomal11.1
14conotruncal heart malformations11.0
15visceral heterotaxy11.0
16transposition of the great arteries, dextro-looped 210.9
17dextro-looped transposition of the great arteries10.9
18heart septal defect10.9
19cfc1-related conotruncal heart malformations10.9
20cfc1-related visceral heterotaxy10.9
21biliary atresia with splenic malformation syndrome10.9
22heterotaxy, visceral, 1, x-linked10.8
23woolly hair, autosomal dominant10.8
24noonan syndrome 110.8
25hypotrichosis 810.8
26pectus carinatum10.8
27growth hormone insensitivity with immunodeficiency10.2MAP2K2, PTPN11
28malignant skin fibrous histiocytoma10.2HRAS, KRAS
29spondylarthropathy10.2BRAF, HRAS
30biliary papillomatosis10.2BRAF, KRAS
31chronic venous insufficiency10.2HRAS, KRAS
32infantile thalamic degeneration10.2BRAF, KRAS
33erythrocyte lactate transporter defect10.2HRAS, KRAS
34melanocytic nevus syndrome, congenital, somatic10.2HRAS, KRAS
35oral squamous cell carcinoma10.1BRAF, HRAS, KRAS
36parotid gland adenoid cystic carcinoma10.1HRAS, MAP2K1
37non-distal monosomy 10q10.1BRAF, HRAS, KRAS
38polg-related disorders10.1BRAF, PTPN11, RAF1
39parachordoma10.1BRAF, KRAS
40progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 310.1BRAF, HRAS, MAP2K1
41brachial plexus neuropathy10.1HRAS, KRAS, RAF1
42diabetes mellitus, insulin-resistant, with acanthosis nigricans10.1PTPN11, RAF1, SOS1
43vulvar apocrine adenocarcinoma10.0PTPN11, SOS1, SPRED1
44vulvar sebaceous carcinoma10.0PTPN11, SOS1, SPRED1
45seborrheic dermatitis10.0HRAS, PTPN11, SPRED1
46endometrial small cell carcinoma10.0BRAF, MAP2K7
47bile duct disease10.0HRAS, KRAS
48severe pre-eclampsia9.9HRAS, KRAS, MAP2K7
49multinodular goiter9.9HRAS, KRAS, MAP2K7
50costello syndrome9.9

Graphical network of the top 20 diseases related to Cardiofaciocutaneous Syndrome:



Diseases related to cardiofaciocutaneous syndrome

Symptoms & Phenotypes for Cardiofaciocutaneous Syndrome

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Symptoms by clinical synopsis from OMIM:

115150

Clinical features from OMIM:

115150

Human phenotypes related to Cardiofaciocutaneous Syndrome:

 54 64 (show all 122)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Frequent (79-30%) HP:0000028
2 hydronephrosis64 54 Occasional (29-5%) HP:0000126
3 submucous cleft hard palate64 54 Occasional (29-5%) HP:0000176
4 high palate64 54 Frequent (79-30%) HP:0000218
5 hydrocephalus64 54 Occasional (29-5%) HP:0000238
6 macrocephaly64 54 Frequent (79-30%) HP:0000256
7 long face64 54 Very frequent (99-80%) HP:0000276
8 coarse facial features64 54 Very frequent (99-80%) HP:0000280
9 epicanthus64 54 Frequent (79-30%) HP:0000286
10 full cheeks64 54 Very frequent (99-80%) HP:0000293
11 hypertelorism64 54 Frequent (79-30%) HP:0000316
12 long philtrum64 54 Frequent (79-30%) HP:0000343
13 high forehead64 54 Frequent (79-30%) HP:0000348
14 low-set, posteriorly rotated ears64 54 Frequent (79-30%) HP:0000368
15 thickened helices64 54 Very frequent (99-80%) HP:0000391
16 macrotia64 54 Frequent (79-30%) HP:0000400
17 anteverted nares64 54 Very frequent (99-80%) HP:0000463
18 webbed neck64 54 Frequent (79-30%) HP:0000465
19 short neck64 54 Frequent (79-30%) HP:0000470
20 abnormality of the eye54 Very frequent (99-80%)
21 strabismus64 54 Frequent (79-30%) HP:0000486
22 downslanted palpebral fissures64 54 Frequent (79-30%) HP:0000494
23 abnormality of the eyelashes54 Very frequent (99-80%)
24 abnormality of vision64 54 Very frequent (99-80%) HP:0000504
25 ptosis64 54 Frequent (79-30%) HP:0000508
26 myopia64 54 Frequent (79-30%) HP:0000545
27 long palpebral fissure64 54 Very frequent (99-80%) HP:0000637
28 nystagmus64 54 Frequent (79-30%) HP:0000639
29 optic atrophy64 54 Occasional (29-5%) HP:0000648
30 pectus excavatum64 54 Frequent (79-30%) HP:0000767
31 dry skin64 54 Very frequent (99-80%) HP:0000958
32 hyperkeratosis64 54 Frequent (79-30%) HP:0000962
33 hyperextensible skin64 54 Frequent (79-30%) HP:0000974
34 palmoplantar keratoderma64 54 Very frequent (99-80%) HP:0000982
35 multiple lentigines64 54 Frequent (79-30%) HP:0001003
36 lymphedema64 54 Occasional (29-5%) HP:0001004
37 cavernous hemangioma64 54 Frequent (79-30%) HP:0001048
38 intellectual disability64 54 Very frequent (99-80%) HP:0001249
39 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
40 dysarthria64 54 Occasional (29-5%) HP:0001260
41 global developmental delay64 54 Very frequent (99-80%) HP:0001263
42 failure to thrive in infancy64 54 Very frequent (99-80%) HP:0001531
43 redundant skin64 54 Occasional (29-5%) HP:0001582
44 premature birth64 54 Frequent (79-30%) HP:0001622
45 atria septal defect54 Very frequent (99-80%)
46 hypertrophic cardiomyopathy64 54 Occasional (29-5%) HP:0001639
47 pulmonic stenosis64 54 Very frequent (99-80%) HP:0001642
48 abnormality of the heart valves54 Very frequent (99-80%)
49 frontal bossing64 54 Frequent (79-30%) HP:0002007
50 cerebral cortical atrophy64 54 Occasional (29-5%) HP:0002120
51 low posterior hairline64 54 Frequent (79-30%) HP:0002162
52 neurological speech impairment54 Very frequent (99-80%)
53 fine hair64 54 Very frequent (99-80%) HP:0002213
54 slow-growing hair64 54 Frequent (79-30%) HP:0002217
55 brittle hair64 54 Very frequent (99-80%) HP:0002299
56 eeg abnormality64 54 Frequent (79-30%) HP:0002353
57 malformation of the heart and great vessels54 Very frequent (99-80%)
58 scoliosis64 54 Frequent (79-30%) HP:0002650
59 genu valgum64 54 Occasional (29-5%) HP:0002857
60 cubitus valgus64 54 Occasional (29-5%) HP:0002967
61 abnormality of the ulna64 54 Frequent (79-30%) HP:0002997
62 short nose64 54 Frequent (79-30%) HP:0003196
63 short stature64 54 Very frequent (99-80%) HP:0004322
64 biparietal narrowing64 54 Frequent (79-30%) HP:0004422
65 depressed nasal bridge64 54 Frequent (79-30%) HP:0005280
66 deep palmar crease64 54 Frequent (79-30%) HP:0006191
67 excessive wrinkled skin64 54 Very frequent (99-80%) HP:0007392
68 generalized hyperpigmentation64 54 Frequent (79-30%) HP:0007440
69 multiple cafe-au-lait spots64 54 Frequent (79-30%) HP:0007565
70 ichthyosis64 54 Frequent (79-30%) HP:0008064
71 sparse hair64 54 Frequent (79-30%) HP:0008070
72 dystrophic fingernails64 54 Frequent (79-30%) HP:0008391
73 feeding difficulties in infancy64 54 Very frequent (99-80%) HP:0008872
74 underdeveloped supraorbital ridges64 54 Very frequent (99-80%) HP:0009891
75 cheekbone underdevelopment54 Frequent (79-30%)
76 abnormality of the gastrointestinal tract54 Occasional (29-5%)
77 functional abnormality of the gastrointestinal tract64 54 Occasional (29-5%) HP:0012719
78 aplasia/hypoplasia of the eyebrow64 54 Very frequent (99-80%) HP:0100840
79 sparse or absent eyelashes64 54 Frequent (79-30%) HP:0200102
80 open mouth64 HP:0000194
81 dolichocephaly64 HP:0000268
82 narrow forehead64 HP:0000341
83 micrognathia64 HP:0000347
84 posteriorly rotated ears64 HP:0000358
85 hearing impairment64 HP:0000365
86 low-set ears64 HP:0000369
87 bulbous nose64 HP:0000414
88 proptosis64 HP:0000520
89 progressive visual loss64 HP:0000529
90 absent eyelashes64 HP:0000561
91 oculomotor apraxia64 HP:0000657
92 dental malocclusion64 HP:0000689
93 pectus carinatum64 HP:0000768
94 osteopenia64 HP:0000938
95 atopic dermatitis64 HP:0001047
96 optic nerve dysplasia64 HP:0001093
97 hyperextensibility of the finger joints64 HP:0001187
98 seizures64 HP:0001250
99 hypertonia64 HP:0001276
100 failure to thrive64 HP:0001508
101 polyhydramnios64 HP:0001561
102 atrial septal defect64 HP:0001631
103 splenomegaly64 HP:0001744
104 deep philtrum64 HP:0002002
105 vomiting64 HP:0002013
106 constipation64 HP:0002019
107 gastroesophageal reflux64 HP:0002020
108 curly hair64 HP:0002212
109 absent eyebrow64 HP:0002223
110 delayed skeletal maturation64 HP:0002750
111 peripheral axonal neuropathy64 HP:0003477
112 clinodactyly of the 5th finger64 HP:0004209
113 relative macrocephaly64 HP:0004482
114 multiple palmar creases64 HP:0006114
115 hypoplasia of the frontal lobes64 HP:0007333
116 aplasia/hypoplasia of the corpus callosum64 HP:0007370
117 multiple plantar creases64 HP:0008113
118 anterior creases of earlobe64 HP:0009908
119 open bite64 HP:0010807
120 prominent forehead64 HP:0011220
121 tongue thrusting64 HP:0100703
122 hypoplasia of the zygomatic bone64 HP:0010669

GenomeRNAi Phenotypes related to Cardiofaciocutaneous Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00016-A9.8BRAF, MAP2K2, MAPK1, PTPN11
2GR00055-A-39.2BRAF, HRAS, KRAS, MAPK1, SOS1
3GR00366-A-1929.1BRAF, PTPN11, RAF1, SOS1
4GR00193-A-39.0BRAF, MAP2K2, MAP2K7, MAPK1
5GR00055-A-19.0BRAF, HRAS, KRAS, MAP2K2, MAPK1, SOS1
6GR00248-A8.9BRAF, MAP2K2, MAP2K7, MAPK1, RAF1
7GR00381-A-15.7BRAF, HRAS, KRAS, MAPK1, HRAS, KRAS

MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome according to GeneCards Suite gene sharing:

41 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7BRAF, KRAS, MAP2K1, MAP2K2, MAPK1, PTPN11
2MP:00053698.6BRAF, KRAS, MAPK1, PTPN11, RAF1, SOS1
3MP:00053818.4BRAF, KRAS, MAP2K1, MAP2K2, MAPK1, PTPN11
4MP:00053807.9BRAF, KRAS, MAP2K1, MAPK1, PTPN11, RAF1
5MP:00053907.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
6MP:00020067.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
7MP:00053827.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
8MP:00053887.5BRAF, HRAS, KRAS, MAPK1, PTPN11, RAF1
9MP:00053917.4BRAF, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
10MP:00053847.3BRAF, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
11MP:00053977.2BRAF, KRAS, MAP2K7, MAPK1, PTPN11, RAF1
12MP:00028737.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
13MP:00053857.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
14MP:00053796.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
15MP:00053786.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
16MP:00036316.5BRAF, HRAS, KRAS, MAP2K1, MAP2K7, MAPK1
17MP:00053766.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
18MP:00107686.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
19MP:00107716.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cardiofaciocutaneous Syndrome

Genetic Tests for Cardiofaciocutaneous Syndrome

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Genetic tests related to Cardiofaciocutaneous Syndrome:

id Genetic test Affiliating Genes
1 Cardiofaciocutaneous Syndrome 127
2 Cardio-Facio-Cutaneous Syndrome27
3 Cardiofaciocutaneous Syndrome24 MAP2K2

Anatomical Context for Cardiofaciocutaneous Syndrome

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MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome:

36
Heart, Skin, Tongue, Eye, Bone

Publications for Cardiofaciocutaneous Syndrome

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Articles related to Cardiofaciocutaneous Syndrome:

(show all 40)
idTitleAuthorsYear
1
Cardiofaciocutaneous syndrome and the dermatologist's contribution to diagnosis. (28207016)
2017
2
An adult case of cardiofaciocutaneous syndrome with BRAF mutation. (28524057)
2017
3
Vigabatrin Therapy for Infantile Spasms in a Case of Cardiofaciocutaneous Syndrome with Cardiac Hypertrophy Developing during Adrenocorticotropic Hormone Treatment. (27680485)
2016
4
Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome. (26842671)
2016
5
Cardiofaciocutaneous Syndrome: Case Report of a Rare Disorder. (28050463)
2016
6
Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience. (27149079)
2016
7
Clinicopathologic evaluation of cardiofaciocutaneous syndrome: overcoming the challenges of diagnosing a rare genodermatosis. (25514835)
2015
8
Emergence of a Genetic Diagnosis: Case Presentation of a Preterm Infant With Cardiofaciocutaneous Syndrome. (26225596)
2015
9
Anesthesia for a pediatric patient with cardiofaciocutaneous syndrome. (25827862)
2015
10
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. (26242988)
2015
11
Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients]. (25194980)
2015
12
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation. (25487361)
2015
13
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. (25346259)
2014
14
The perinatal presentation of cardiofaciocutaneous syndrome. (24719372)
2014
15
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. (25250515)
2014
16
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review. (24283439)
2013
17
My memories of Professor Giovanni Neri: the cardiofaciocutaneous syndrome (CFC). (24166813)
2013
18
Cardiofaciocutaneous syndrome. (24600094)
2013
19
Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation. (24303953)
2013
20
Cardiofaciocutaneous syndrome: a rare entity. (22837569)
2012
21
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. (20523244)
2011
22
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. (21062266)
2011
23
Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. (21178588)
2011
24
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. (20186801)
2010
25
Eccrine squamous metaplasia and periadnexal granulomas: new cutaneous histopathologic findings in cardiofaciocutaneous syndrome. (19804494)
2010
26
Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts. (20518782)
2010
27
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. (19206169)
2009
28
Tetralogy of Fallot and hypertrophic cardiomyopathy in a case of cardiofaciocutaneous syndrome. (18773675)
2008
29
The cardiofaciocutaneous syndrome: prenatal findings in two patients. (18022830)
2008
30
Peripheral neuropathy in cardiofaciocutaneous syndrome. (17437909)
2007
31
The cardiofaciocutaneous syndrome. (16825433)
2006
32
Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. (16007634)
2005
33
Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature. (15096145)
2004
34
CFC index for the diagnosis of cardiofaciocutaneous syndrome. (12239713)
2002
35
Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. (10528867)
1999
36
Cardiofaciocutaneous Syndrome (20301365)
1993
37
Retinal dystrophy in the cardiofaciocutaneous syndrome. (8410580)
1993
38
Cardiofaciocutaneous syndrome. (8420490)
1993
39
Cardiofaciocutaneous syndrome. (1342862)
1992
40
Cardiofaciocutaneous syndrome with new ectodermal manifestations. (1619641)
1992

Variations for Cardiofaciocutaneous Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Cardiofaciocutaneous Syndrome:

70 (show all 24)
id Symbol AA change Variation ID SNP ID
1BRAFp.Gly469GluVAR_018621rs121913355
2BRAFp.Phe595LeuVAR_018625rs121913341
3BRAFp.Ala246ProVAR_026113rs180177034
4BRAFp.Gln257ArgVAR_026114rs180177035
5BRAFp.Leu485PheVAR_026115rs180177036
6BRAFp.Lys499GluVAR_026116rs180177037
7BRAFp.Glu501GlyVAR_026117rs180177039
8BRAFp.Glu501LysVAR_026118rs180177038
9BRAFp.Asn581AspVAR_026119rs180177040
10BRAFp.Ser467AlaVAR_035096rs869025606
11BRAFp.Phe468SerVAR_035097rs397507473
12BRAFp.Gly596ValVAR_035098rs397507483
13BRAFp.Thr241ProVAR_058621rs387906661
14BRAFp.Leu245PheVAR_058623rs397507466
15BRAFp.Glu275LysVAR_058624
16BRAFp.Lys499AsnVAR_058625rs397507476
17BRAFp.Leu525ProVAR_058626rs869025340
18BRAFp.Thr599ArgVAR_058628
19BRAFp.Lys601GlnVAR_058629rs121913364
20BRAFp.Asp638GluVAR_058630rs180177042
21BRAFp.Gln709ArgVAR_058631rs397507486
22BRAFp.Thr244ProVAR_065171rs397507465
23BRAFp.Gln262LysVAR_065172rs397507470
24BRAFp.Asn580AspVAR_065173

Clinvar genetic disease variations for Cardiofaciocutaneous Syndrome:

5 (show all 46)
id Gene Variation Type Significance SNP ID Assembly Location
1MAP2K1NM_ 002755.3(MAP2K1): c.389A> G (p.Tyr130Cys)SNVPathogenicrs121908595GRCh37Chr 15, 66729181: 66729181
2MAP2K1NM_ 002755.3(MAP2K1): c.383G> T (p.Gly128Val)SNVPathogenic/ Likely pathogenicrs121908596GRCh37Chr 15, 66729175: 66729175
3BRAFNM_ 004333.4(BRAF): c.1799T> A (p.Val600Glu)SNVPathogenic/ Likely pathogenicrs113488022GRCh37Chr 7, 140453136: 140453136
4BRAFNM_ 004333.4(BRAF): c.736G> C (p.Ala246Pro)SNVPathogenicrs180177034GRCh37Chr 7, 140501336: 140501336
5BRAFNM_ 004333.4(BRAF): c.770A> G (p.Gln257Arg)SNVPathogenicrs180177035GRCh37Chr 7, 140501302: 140501302
6BRAFNM_ 004333.4(BRAF): c.1406G> A (p.Gly469Glu)SNVPathogenic/ Likely pathogenicrs121913355GRCh37Chr 7, 140481402: 140481402
7BRAFNM_ 004333.4(BRAF): c.1455G> C (p.Leu485Phe)SNVPathogenicrs180177036GRCh37Chr 7, 140477853: 140477853
8BRAFNM_ 004333.4(BRAF): c.1495A> G (p.Lys499Glu)SNVPathogenic/ Likely pathogenicrs180177037GRCh37Chr 7, 140477813: 140477813
9BRAFNM_ 004333.4(BRAF): c.1501G> A (p.Glu501Lys)SNVPathogenic/ Likely pathogenicrs180177038GRCh37Chr 7, 140477807: 140477807
10BRAFNM_ 004333.4(BRAF): c.1502A> G (p.Glu501Gly)SNVPathogenic/ Likely pathogenicrs180177039GRCh37Chr 7, 140477806: 140477806
11BRAFNM_ 004333.4(BRAF): c.1741A> G (p.Asn581Asp)SNVPathogenicrs180177040GRCh37Chr 7, 140453987: 140453987
12BRAFNM_ 004333.4(BRAF): c.1600G> C (p.Gly534Arg)SNVPathogenicrs180177041GRCh37Chr 7, 140476806: 140476806
13BRAFNM_ 004333.4(BRAF): c.1914T> A (p.Asp638Glu)SNVPathogenicrs180177042GRCh37Chr 7, 140449165: 140449165
14BRAFNM_ 004333.4(BRAF): c.1914T> G (p.Asp638Glu)SNVPathogenicrs180177042GRCh37Chr 7, 140449165: 140449165
15BRAFNM_ 004333.4(BRAF): c.1785T> G (p.Phe595Leu)SNVPathogenic/ Likely pathogenicrs121913341GRCh37Chr 7, 140453150: 140453150
16MAP2K2NM_ 030662.3(MAP2K2): c.401A> G (p.Tyr134Cys)SNVPathogenic/ Likely pathogenicrs727504370GRCh37Chr 19, 4110556: 4110556
17BRAFNM_ 004333.4(BRAF): c.1783T> C (p.Phe595Leu)SNVPathogenic/ Likely pathogenicrs794729219GRCh37Chr 7, 140453152: 140453152
18BRAFNM_ 004333.4(BRAF): c.1399T> G (p.Ser467Ala)SNVPathogenicrs869025606GRCh37Chr 7, 140481409: 140481409
19BRAFNM_ 004333.4(BRAF): c.1408_ 1410delACA (p.Thr470del)deletionPathogenicrs869025607GRCh37Chr 7, 140481398: 140481400
20MAP2K1NM_ 002755.3(MAP2K1): c.171G> T (p.Lys57Asn)SNVPathogenic/ Likely pathogenicrs869025608GRCh38Chr 15, 66435117: 66435117
21KRASNM_ 004985.4(KRAS): c.211T> G (p.Tyr71Asp)SNVLikely pathogenicrs387907205GRCh38Chr 12, 25227313: 25227313
22BRAFNM_ 004333.4(BRAF): c.721A> C (p.Thr241Pro)SNVPathogenic/ Likely pathogenicrs387906661GRCh37Chr 7, 140501351: 140501351
23BRAFNM_ 004333.4(BRAF): c.730A> C (p.Thr244Pro)SNVPathogenicrs397507465GRCh37Chr 7, 140501342: 140501342
24BRAFNM_ 004333.4(BRAF): c.735A> C (p.Leu245Phe)SNVPathogenic/ Likely pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
25BRAFNM_ 004333.4(BRAF): c.735A> T (p.Leu245Phe)SNVPathogenic/ Likely pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
26BRAFNM_ 004333.4(BRAF): c.1403T> C (p.Phe468Ser)SNVPathogenicrs397507473GRCh37Chr 7, 140481405: 140481405
27BRAFNM_ 004333.4(BRAF): c.1447A> C (p.Lys483Gln)SNVLikely pathogenicrs397507474GRCh37Chr 7, 140477861: 140477861
28BRAFNM_ 004333.4(BRAF): c.1454T> C (p.Leu485Ser)SNVPathogenic/ Likely pathogenicrs397507475GRCh37Chr 7, 140477854: 140477854
29BRAFNM_ 004333.4(BRAF): c.1502A> T (p.Glu501Val)SNVPathogenic/ Likely pathogenicrs180177039GRCh37Chr 7, 140477806: 140477806
30BRAFNM_ 004333.4(BRAF): c.1695T> G (p.Asp565Glu)SNVLikely pathogenicrs397507480GRCh37Chr 7, 140454033: 140454033
31BRAFNM_ 004333.4(BRAF): c.1787G> T (p.Gly596Val)SNVPathogenic/ Likely pathogenicrs397507483GRCh37Chr 7, 140453148: 140453148
32BRAFNM_ 004333.4(BRAF): c.1799T> G (p.Val600Gly)SNVPathogenicrs113488022GRCh37Chr 7, 140453136: 140453136
33MAP2K1NM_ 002755.3(MAP2K1): c.371C> T (p.Pro124Leu)SNVPathogenic/ Likely pathogenicrs397516792GRCh37Chr 15, 66729163: 66729163
34MAP2K1NM_ 002755.3(MAP2K1): c.388T> C (p.Tyr130His)SNVPathogenicrs397516793GRCh37Chr 15, 66729180: 66729180
35MAP2K2NM_ 030662.3(MAP2K2): c.181A> G (p.Lys61Glu)SNVPathogenic/ Likely pathogenicrs730880517GRCh37Chr 19, 4117539: 4117539
36MAP2K1NM_ 002755.3(MAP2K1): c.199G> A (p.Asp67Asn)SNVPathogenic/ Likely pathogenicrs727504317GRCh37Chr 15, 66727483: 66727483
37MAP2K1NM_ 002755.3(MAP2K1): c.124C> T (p.Leu42Phe)SNVLikely pathogenicrs397516789GRCh37Chr 15, 66727408: 66727408
38BRAFNM_ 004333.4(BRAF): c.1442C> A (p.Ala481Glu)SNVLikely pathogenicrs397516892GRCh37Chr 7, 140477866: 140477866
39BRAFNM_ 004333.4(BRAF): c.1460T> G (p.Val487Gly)SNVLikely pathogenicrs397516893GRCh37Chr 7, 140477848: 140477848
40BRAFNM_ 004333.4(BRAF): c.1501G> C (p.Glu501Gln)SNVLikely pathogenicrs180177038GRCh37Chr 7, 140477807: 140477807
41BRAFNM_ 004333.4(BRAF): c.1720C> T (p.His574Tyr)SNVPathogenicrs397516894GRCh37Chr 7, 140454008: 140454008
42BRAFNM_ 004333.4(BRAF): c.1743T> A (p.Asn581Lys)SNVPathogenicrs397516895GRCh37Chr 7, 140453192: 140453192
43BRAFNM_ 004333.4(BRAF): c.785A> C (p.Gln262Pro)SNVLikely pathogenicrs397516904GRCh37Chr 7, 140501287: 140501287
44MAP2K2NM_ 030662.3(MAP2K2): c.170T> G (p.Phe57Cys)SNVPathogenicrs121434497GRCh37Chr 19, 4117550: 4117550
45MAP2K2NM_ 030662.3(MAP2K2): c.400T> C (p.Tyr134His)SNVPathogenic/ Likely pathogenicrs121434499GRCh37Chr 19, 4110557: 4110557
46MAP2K2NM_ 030662.3(MAP2K2): c.383C> A (p.Pro128Gln)SNVPathogenicrs267607230GRCh37Chr 19, 4110574: 4110574

Expression for genes affiliated with Cardiofaciocutaneous Syndrome

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Search GEO for disease gene expression data for Cardiofaciocutaneous Syndrome.

Pathways for genes affiliated with Cardiofaciocutaneous Syndrome

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Pathways related to Cardiofaciocutaneous Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 217)
idSuper pathwaysScoreTop Affiliating Genes
19.8HRAS, KRAS
29.6MAPK1, SOS1
39.6MAPK1, RAF1
49.5BRAF, MAP2K1, MAPK1
59.5MAP2K1, MAP2K2, MAPK1
6
Show member pathways
9.5MAP2K1, MAP2K2, MAPK1
7
Show member pathways
9.5MAP2K1, MAP2K2, MAPK1
89.5MAP2K1, MAP2K2, MAPK1
99.5MAP2K1, MAP2K2, MAPK1
109.5BRAF, KRAS, MAPK1
11
Show member pathways
9.5HRAS, KRAS, SOS1
12
Show member pathways
9.5HRAS, KRAS, SOS1
13
Show member pathways
9.5HRAS, KRAS, SOS1
14
Show member pathways
9.5HRAS, KRAS, SOS1
159.5HRAS, MAP2K2, RAF1
169.4HRAS, PTPN11, SOS1
179.4HRAS, PTPN11, SOS1
189.4HRAS, KRAS, RAF1
199.4HRAS, KRAS, RAF1
209.4HRAS, KRAS, RAF1
21
Show member pathways
9.4MAP2K1, MAPK1, PTPN11
229.4HRAS, KRAS, MAPK1
239.4HRAS, KRAS, MAPK1
249.4HRAS, KRAS, MAPK1
259.4HRAS, KRAS, MAPK1
269.3HRAS, RAF1, SOS1
279.3MAP2K2, MAPK1, RAF1
289.3MAP2K1, MAPK1, RAF1
299.3MAP2K1, MAPK1, RAF1
309.3MAP2K1, MAPK1, RAF1
319.3MAPK1, PTPN11, SOS1
329.3MAPK1, PTPN11, SOS1
33
Show member pathways
9.3HRAS, KRAS, SPRED1
34
Show member pathways
9.3HRAS, KRAS, MAP2K1, MAP2K2
35
Show member pathways
9.3BRAF, MAP2K1, MAP2K2, RAF1
369.2BRAF, MAP2K1, MAP2K2, MAPK1
37
Show member pathways
9.1MAP2K1, MAP2K2, MAPK1, PTPN11
389.1BRAF, KRAS, RAF1, SOS1
39
Show member pathways
9.1HRAS, KRAS, PTPN11, SOS1
40
Show member pathways
9.1MAP2K1, MAP2K2, MAP2K7
419.1BRAF, MAP2K1, MAPK1, RAF1
42
Show member pathways
9.1BRAF, MAP2K1, MAPK1, RAF1
439.1MAP2K1, MAP2K2, MAPK1, RAF1
449.1MAP2K1, MAP2K2, MAPK1, RAF1
459.1MAP2K1, MAP2K2, MAPK1, RAF1
469.1MAP2K1, MAP2K2, MAPK1, RAF1
479.1MAP2K1, MAP2K2, MAPK1, RAF1
48
Show member pathways
9.0MAP2K1, MAPK1, PTPN11, SOS1
49
Show member pathways
9.0HRAS, PTPN11, RAF1, SOS1
509.0HRAS, PTPN11, RAF1, SOS1

GO Terms for genes affiliated with Cardiofaciocutaneous Syndrome

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Cellular components related to Cardiofaciocutaneous Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1late endosomeGO:000577010.2MAP2K1, MAP2K2, MAPK1
2focal adhesionGO:00059259.9KRAS, MAP2K1, MAP2K2, MAPK1
3pseudopodiumGO:00311439.6MAPK1, RAF1
4mitochondrionGO:00057398.5BRAF, KRAS, MAP2K1, MAP2K2, MAPK1, PTPN11
5cytoplasmGO:00057376.3BRAF, HRAS, KRAS, KRT74, MAP2K1, MAP2K2
6cytosolGO:00058295.7BRAF, HRAS, KRAS, KRT74, MAP2K1, MAP2K2

Biological processes related to Cardiofaciocutaneous Syndrome according to GeneCards Suite gene sharing:

(show all 43)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of production of miRNAs involved in gene silencing by miRNAGO:190380010.7MAP2K1, MAP2K2
2regulation of axon regenerationGO:004867910.7BRAF, MAP2K1
3cerebellar cortex formationGO:002169710.7MAP2K1, PTPN11
4cellular senescenceGO:009039810.6HRAS, MAP2K1
5regulation of long-term neuronal synaptic plasticityGO:004816910.6HRAS, KRAS
6response to isolation stressGO:003590010.6HRAS, KRAS
7lung morphogenesisGO:006042510.5MAP2K1, MAPK1
8ERBB signaling pathwayGO:003812710.5MAPK1, PTPN11
9negative regulation of neuron apoptotic processGO:004352410.4BRAF, HRAS, KRAS
10intermediate filament cytoskeleton organizationGO:004510410.3KRT74, RAF1
11positive regulation of Ras protein signal transductionGO:004657910.3HRAS, SHOC2
12ERK1 and ERK2 cascadeGO:007037110.3MAP2K1, MAP2K2, MAPK1
13ERBB2 signaling pathwayGO:003812810.3HRAS, KRAS, SOS1
14animal organ morphogenesisGO:000988710.2BRAF, HRAS, MAPK1
15regulation of early endosome to late endosome transportGO:200064110.2MAP2K1, MAP2K2, MAPK1
16regulation of Golgi inheritanceGO:009017010.2MAP2K1, MAP2K2, MAPK1
17regulation of stress-activated MAPK cascadeGO:003287210.2MAP2K1, MAP2K2, MAPK1
18Bergmann glial cell differentiationGO:006002010.2MAP2K1, MAPK1, PTPN11
19positive regulation of protein phosphorylationGO:000193410.2HRAS, KRAS, RAF1
20neurotrophin TRK receptor signaling pathwayGO:004801110.2PTPN11, RAF1, SOS1
21platelet activationGO:003016810.1MAPK1, PTPN11, RAF1
22stimulatory C-type lectin receptor signaling pathwayGO:000222310.0HRAS, KRAS, RAF1
23positive regulation of telomere cappingGO:190435510.0MAP2K7, MAPK1
24activation of MAPK activityGO:00001879.9MAP2K1, MAP2K2, MAPK1, PTPN11
25epidermal growth factor receptor signaling pathwayGO:00071739.9HRAS, KRAS, PTPN11, SOS1
26leukocyte migrationGO:00509009.9HRAS, KRAS, PTPN11, SOS1
27T cell receptor signaling pathwayGO:00508529.9BRAF, HRAS, MAPK1
28face developmentGO:00603249.9BRAF, MAP2K1, MAPK1, RAF1
29proteolysis in other organismGO:00358979.9MAP2K1, MAP2K2, MAP2K7
30heart developmentGO:00075079.8MAP2K1, MAPK1, PTPN11, RAF1
31trachea formationGO:00604409.7MAP2K1, MAPK1
32positive regulation of gene expressionGO:00106289.6BRAF, HRAS, KRAS, MAP2K1, MAPK1
33Ras protein signal transductionGO:00072659.6HRAS, KRAS, SHOC2, SOS1
34axon guidanceGO:00074119.5HRAS, KRAS, MAPK1, PTPN11, SOS1
35thymus developmentGO:00485389.5BRAF, MAP2K1, MAPK1, RAF1
36positive regulation of ERK1 and ERK2 cascadeGO:00703749.4BRAF, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1
37fibroblast growth factor receptor signaling pathwayGO:00085439.4MAPK1, PTPN11, SHOC2, SPRED1
38thyroid gland developmentGO:00308789.2BRAF, MAP2K1, MAPK1, RAF1
39Fc-epsilon receptor signaling pathwayGO:00380959.0HRAS, KRAS, MAP2K7, MAPK1, SOS1
40phosphorylationGO:00163108.8BRAF, MAP2K1, MAP2K2, MAP2K7, MAPK1, RAF1
41protein phosphorylationGO:00064688.7BRAF, MAP2K1, MAP2K2, MAP2K7, MAPK1, RAF1
42MAPK cascadeGO:00001658.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
43signal transductionGO:00071657.9BRAF, HRAS, KRAS, MAP2K1, MAP2K7, MAPK1

Molecular functions related to Cardiofaciocutaneous Syndrome according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activator activityGO:004353910.6MAP2K1, MAP2K2
2MAP kinase kinase kinase activityGO:000470910.5BRAF, RAF1
3mitogen-activated protein kinase kinase bindingGO:003143410.5BRAF, RAF1
4MAP kinase kinase activityGO:00047089.8MAP2K1, MAP2K2, MAP2K7
5small GTPase bindingGO:00312679.8BRAF, RAF1
6signal transducer, downstream of receptor, with serine/threonine kinase activityGO:00047029.5MAP2K1, MAP2K2, MAP2K7
7nucleotide bindingGO:00001668.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
8kinase activityGO:00163018.7BRAF, MAP2K1, MAP2K2, MAP2K7, MAPK1, RAF1
9protein kinase activityGO:00046728.6BRAF, MAP2K1, MAP2K2, MAP2K7, MAPK1, RAF1
10protein serine/threonine kinase activityGO:00046748.5BRAF, MAP2K1, MAP2K2, MAP2K7, MAPK1, RAF1

Sources for Cardiofaciocutaneous Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet