MCID: CRD013
MIFTS: 63

Cardiofaciocutaneous Syndrome 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, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Cardiofaciocutaneous Syndrome:

Name: Cardiofaciocutaneous Syndrome 51 11 23 47 24 25 53 12 13
Cfc Syndrome 11 23 47 24 25 53 69 49
Cardio-Facio-Cutaneous Syndrome 47 24 25 69 26
Cardiofaciocutaneous Syndrome 1 69 26
 
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities and Growth Failure 47
Cardio-Facial-Cutaneous Syndrome 11
Cfcs 69
Cfc1 69

Characteristics:

Orphanet epidemiological data:

53
cardiofaciocutaneous syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

63
cardiofaciocutaneous syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: congenital onset

GeneReviews:

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


Classifications:



External Ids:

OMIM51 115150
Disease Ontology11 DOID:0060233
ICD1029 Q87.8
Orphanet53 ORPHA1340
UMLS via Orphanet68 C1275081
ICD10 via Orphanet30 Q87.8
MESH via Orphanet39 C535579
MedGen36 C1275081

Summaries for Cardiofaciocutaneous Syndrome

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OMIM:51 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 long face, coarse facial features and full cheeks. An important gene associated with Cardiofaciocutaneous Syndrome is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways are Nongenotropic Androgen signaling and Thyroid cancer. Affiliated tissues include heart, skin and tongue, and related mouse phenotypes are muscle and hearing/vestibular/ear.

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:47 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:69 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:70 Cardiofaciocutaneous Syndrome (CFC) 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 83)
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
8heterotaxy11.4
9transposition of the great arteries, dextro-looped 111.4
10heart disease11.3
11biliary atresia11.3
12transposition of the great arteries11.2
13heterotaxy, visceral, 2, autosomal11.1
14visceral heterotaxy11.0
15conotruncal heart malformations10.9
16heart septal defect10.8
17heterotaxy, visceral, 1, x-linked10.8
18woolly hair, autosomal dominant10.8
19noonan syndrome 110.8
20hypotrichosis 810.8
21pulmonary venoocclusive disease10.6BRAF, KRAS
22split hand split foot malformation autosomal recessive10.5BRAF, HRAS
23vagina sarcoma10.5HRAS, KRAS
24growth hormone insensitivity with immunodeficiency10.5MAP2K2, PTPN11
25glomerulosclerosis10.5HRAS, KRAS
26epidermal nevus, somatic10.5HRAS, KRAS
27schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.5HRAS, KRAS
28myxosarcoma10.5HRAS, KRAS
29seminal vesicle chronic gonorrhea10.4HRAS, KRAS
30follicular mucinosis10.4PTPN11, SOS1
31ureter adenocarcinoma10.4HRAS, KRAS
32sexual masochism10.4KRAS, RAF1
33trachea adenoid cystic carcinoma10.4HRAS, KRAS
34mediastinum teratoma10.4BRAF, KRAS
35breast papillary carcinoma10.4HRAS, KRAS
36brachial plexus neuritis10.4KRAS, RAF1
37spindle epithelial tumor with thymus-like differentiation tumor10.4HRAS, KRAS
38uterine ligament serous adenocarcinoma10.4HRAS, KRAS
39bladder benign neoplasm10.4KRAS, RAF1
40appendix mucinous cystadenocarcinoma10.3HRAS, KRAS
41arteritic anterior ischemic optic neuropathy10.3BRAF, HRAS, KRAS
42atrial standstill10.3BRAF, HRAS, KRAS
43tabes dorsalis10.3HRAS, KRAS
44acanthoma10.3HRAS, KRAS
45fibroma10.2BRAF, KRAS
46otof-related deafness10.2BRAF, PTPN11, RAF1
47childhood optic tract astrocytoma10.2BRAF, HRAS, KRAS
48adenofibroma10.2HRAS, KRAS
49ovarian serous adenofibroma10.2HRAS, KRAS
50cerebellar disease10.1HRAS, KRAS, MAPK1

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



Diseases related to cardiofaciocutaneous syndrome

Symptoms 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:

 63 53 (show all 131)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long face63 53 hallmark (90%) Very frequent (99-80%) HP:0000276
2 coarse facial features63 53 hallmark (90%) Very frequent (99-80%) HP:0000280
3 full cheeks63 53 hallmark (90%) Very frequent (99-80%) HP:0000293
4 thickened helices63 53 hallmark (90%) Very frequent (99-80%) HP:0000391
5 anteverted nares63 53 hallmark (90%) Very frequent (99-80%) HP:0000463
6 long palpebral fissure63 53 hallmark (90%) Very frequent (99-80%) HP:0000637
7 dry skin63 53 hallmark (90%) Very frequent (99-80%) HP:0000958
8 palmoplantar keratoderma63 53 hallmark (90%) Very frequent (99-80%) HP:0000982
9 hypertrichosis63 hallmark (90%) HP:0000998
10 muscular hypotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001252
11 atria septal defect63 hallmark (90%) HP:0001631
12 abnormality of the heart valves63 53 hallmark (90%) Very frequent (99-80%) HP:0001654
13 neurological speech impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0002167
14 fine hair63 53 hallmark (90%) Very frequent (99-80%) HP:0002213
15 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
16 abnormality of the pulmonary artery63 hallmark (90%) HP:0004414
17 underdeveloped supraorbital ridges63 53 hallmark (90%) Very frequent (99-80%) HP:0009891
18 cognitive impairment63 hallmark (90%) HP:0100543
19 aplasia/hypoplasia of the eyebrow63 53 hallmark (90%) Very frequent (99-80%) HP:0100840
20 cryptorchidism63 53 typical (50%) Frequent (79-30%) HP:0000028
21 macrocephaly63 53 typical (50%) Frequent (79-30%) HP:0000256
22 epicanthus63 53 typical (50%) Frequent (79-30%) HP:0000286
23 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
24 narrow forehead63 typical (50%) HP:0000341
25 long philtrum63 53 typical (50%) Frequent (79-30%) HP:0000343
26 high forehead63 53 typical (50%) Frequent (79-30%) HP:0000348
27 low-set, posteriorly rotated ears63 53 typical (50%) Frequent (79-30%) HP:0000368
28 macrotia63 53 typical (50%) Frequent (79-30%) HP:0000400
29 webbed neck63 53 typical (50%) Frequent (79-30%) HP:0000465
30 short neck63 53 typical (50%) Frequent (79-30%) HP:0000470
31 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
32 downslanted palpebral fissures63 53 typical (50%) Frequent (79-30%) HP:0000494
33 abnormality of the eyelashes63 53 typical (50%) Very frequent (99-80%) HP:0000499
34 ptosis63 53 typical (50%) Frequent (79-30%) HP:0000508
35 myopia63 53 typical (50%) Frequent (79-30%) HP:0000545
36 nystagmus63 53 typical (50%) Frequent (79-30%) HP:0000639
37 pectus excavatum63 53 typical (50%) Frequent (79-30%) HP:0000767
38 cafe-au-lait spot63 typical (50%) HP:0000957
39 hyperextensible skin63 53 typical (50%) Frequent (79-30%) HP:0000974
40 abnormality of the fingernails63 typical (50%) HP:0001231
41 premature birth63 53 typical (50%) Frequent (79-30%) HP:0001622
42 frontal bossing63 53 typical (50%) Frequent (79-30%) HP:0002007
43 low posterior hairline63 53 typical (50%) Frequent (79-30%) HP:0002162
44 slow-growing hair63 53 typical (50%) Frequent (79-30%) HP:0002217
45 eeg abnormality63 53 typical (50%) Frequent (79-30%) HP:0002353
46 scoliosis63 53 typical (50%) Frequent (79-30%) HP:0002650
47 abnormality of the ulna63 53 typical (50%) Frequent (79-30%) HP:0002997
48 short nose63 53 typical (50%) Frequent (79-30%) HP:0003196
49 depressed nasal bridge63 53 typical (50%) Frequent (79-30%) HP:0005280
50 deep palmar crease63 53 typical (50%) Frequent (79-30%) HP:0006191
51 generalized hyperpigmentation63 53 typical (50%) Frequent (79-30%) HP:0007440
52 ichthyosis63 53 typical (50%) Frequent (79-30%) HP:0008064
53 hypoplasia of the zygomatic bone63 typical (50%) HP:0010669
54 cleft palate63 occasional (7.5%) HP:0000175
55 hydrocephalus63 53 occasional (7.5%) Occasional (29-5%) HP:0000238
56 optic atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0000648
57 cutis laxa63 occasional (7.5%) HP:0000973
58 lymphedema63 53 occasional (7.5%) Occasional (29-5%) HP:0001004
59 hypertrophic cardiomyopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0001639
60 abnormality of the abdominal organs63 occasional (7.5%) HP:0002012
61 cerebral cortical atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0002120
62 genu valgum63 53 occasional (7.5%) Occasional (29-5%) HP:0002857
63 cubitus valgus63 53 occasional (7.5%) Occasional (29-5%) HP:0002967
64 abnormality of the upper urinary tract63 occasional (7.5%) HP:0010935
65 peripheral axonal neuropathy63 rare (5%) HP:0003477
66 hydronephrosis63 53 Occasional (29-5%) HP:0000126
67 submucous cleft hard palate63 53 Occasional (29-5%) HP:0000176
68 open mouth63 HP:0000194
69 high palate63 53 Frequent (79-30%) HP:0000218
70 dolichocephaly63 HP:0000268
71 micrognathia63 HP:0000347
72 posteriorly rotated ears63 HP:0000358
73 hearing impairment63 HP:0000365
74 low-set ears63 HP:0000369
75 bulbous nose63 HP:0000414
76 proptosis63 HP:0000520
77 progressive visual loss63 HP:0000529
78 absent eyelashes63 HP:0000561
79 oculomotor apraxia63 HP:0000657
80 dental malocclusion63 HP:0000689
81 pectus carinatum63 HP:0000768
82 osteopenia63 HP:0000938
83 hyperkeratosis63 53 Frequent (79-30%) HP:0000962
84 multiple lentigines63 53 Frequent (79-30%) HP:0001003
85 atopic dermatitis63 HP:0001047
86 cavernous hemangioma63 53 Frequent (79-30%) HP:0001048
87 optic nerve dysplasia63 HP:0001093
88 hyperextensibility of the finger joints63 HP:0001187
89 intellectual disability63 53 Very frequent (99-80%) HP:0001249
90 seizures63 HP:0001250
91 hypertonia63 HP:0001276
92 failure to thrive63 HP:0001508
93 polyhydramnios63 HP:0001561
94 pulmonic stenosis63 53 Very frequent (99-80%) HP:0001642
95 splenomegaly63 HP:0001744
96 deep philtrum63 HP:0002002
97 vomiting63 HP:0002013
98 constipation63 HP:0002019
99 gastroesophageal reflux63 HP:0002020
100 curly hair63 HP:0002212
101 absent eyebrow63 HP:0002223
102 delayed skeletal maturation63 HP:0002750
103 clinodactyly of the 5th finger63 HP:0004209
104 relative macrocephaly63 HP:0004482
105 multiple palmar creases63 HP:0006114
106 hypoplasia of the frontal lobes63 HP:0007333
107 aplasia/hypoplasia of the corpus callosum63 HP:0007370
108 sparse hair63 53 Frequent (79-30%) HP:0008070
109 multiple plantar creases63 HP:0008113
110 feeding difficulties in infancy63 53 Very frequent (99-80%) HP:0008872
111 anterior creases of earlobe63 HP:0009908
112 open bite63 HP:0010807
113 prominent forehead63 HP:0011220
114 tongue thrusting63 HP:0100703
115 abnormality of the eye53 Very frequent (99-80%)
116 abnormality of vision53 Very frequent (99-80%)
117 dysarthria53 Occasional (29-5%)
118 global developmental delay53 Very frequent (99-80%)
119 failure to thrive in infancy53 Very frequent (99-80%)
120 redundant skin53 Occasional (29-5%)
121 defect in the atrial septum53 Very frequent (99-80%)
122 brittle hair53 Very frequent (99-80%)
123 malformation of the heart and great vessels53 Very frequent (99-80%)
124 biparietal narrowing53 Frequent (79-30%)
125 excessive wrinkled skin53 Very frequent (99-80%)
126 multiple cafe-au-lait spots53 Frequent (79-30%)
127 dystrophic fingernails53 Frequent (79-30%)
128 cheekbone underdevelopment53 Frequent (79-30%)
129 abnormality of the gastrointestinal tract53 Occasional (29-5%)
130 functional abnormality of the gastrointestinal tract53 Occasional (29-5%)
131 sparse or absent eyelashes53 Frequent (79-30%)

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 126
2 Cardio-Facio-Cutaneous Syndrome26
3 Cardiofaciocutaneous Syndrome24 MAP2K2

Anatomical Context for Cardiofaciocutaneous Syndrome

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MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome:

35
Heart, Skin, Tongue, Eye, Bone

Animal Models for Cardiofaciocutaneous Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome:

40 (show all 26)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7BRAF, KRAS, MAPK1, PTPN11, RAF1, SOS1
2MP:00053778.7BRAF, KRAS, MAP2K1, MAP2K2, MAPK1, PTPN11
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:00053887.7BRAF, HRAS, KRAS, MAPK1, PTPN11, RAF1
7MP:00020067.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
8MP:00053867.4BRAF, HRAS, KRAS, MAP2K2, MAP2K7, MAPK1
9MP:00053847.3BRAF, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
10MP:00053827.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
11MP:00053917.3BRAF, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
12MP:00028737.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
13MP:00053797.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
14MP:00053857.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
15MP:00036316.7BRAF, HRAS, KRAS, MAP2K1, MAP2K7, MAPK1
16MP:00053786.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
17MP:00107716.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
18MP:00107686.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
19MP:00053766.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7

Publications for Cardiofaciocutaneous Syndrome

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Articles related to Cardiofaciocutaneous Syndrome:

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

Variations for Cardiofaciocutaneous Syndrome

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

69 (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 41)
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)SNVLikely pathogenic, Pathogenicrs121908596GRCh37Chr 15, 66729175: 66729175
3BRAFNM_004333.4(BRAF): c.1799T> A (p.Val600Glu)SNVPathogenicrs113488022GRCh37Chr 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)SNVPathogenicrs121913355GRCh37Chr 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)SNVLikely pathogenic, Pathogenicrs180177037GRCh37Chr 7, 140477813: 140477813
9BRAFNM_004333.4(BRAF): c.1501G> A (p.Glu501Lys)SNVLikely pathogenic, Pathogenicrs180177038GRCh37Chr 7, 140477807: 140477807
10BRAFNM_004333.4(BRAF): c.1502A> G (p.Glu501Gly)SNVPathogenicrs180177039GRCh37Chr 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)SNVLikely pathogenic, Pathogenicrs121913341GRCh37Chr 7, 140453150: 140453150
16MAP2K2NM_030662.3(MAP2K2): c.401A> G (p.Tyr134Cys)SNVLikely pathogenic, Pathogenicrs727504370GRCh37Chr 19, 4110556: 4110556
17BRAFNM_004333.4(BRAF): c.1783T> C (p.Phe595Leu)SNVPathogenicrs794729219GRCh37Chr 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)SNVPathogenicrs869025608GRCh38Chr 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)SNVLikely pathogenic, 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)SNVLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
25BRAFNM_004333.4(BRAF): c.735A> T (p.Leu245Phe)SNVLikely pathogenic, 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 pathogenic, Pathogenicrs397507474GRCh37Chr 7, 140477861: 140477861
28BRAFNM_004333.4(BRAF): c.1454T> C (p.Leu485Ser)SNVLikely pathogenic, Pathogenicrs397507475GRCh37Chr 7, 140477854: 140477854
29BRAFNM_004333.4(BRAF): c.1502A> T (p.Glu501Val)SNVLikely pathogenic, Pathogenicrs180177039GRCh37Chr 7, 140477806: 140477806
30BRAFNM_004333.4(BRAF): c.1595G> A (p.Cys532Tyr)SNVLikely pathogenic, Pathogenicrs397507479GRCh37Chr 7, 140476811: 140476811
31BRAFNM_004333.4(BRAF): c.1695T> G (p.Asp565Glu)SNVLikely pathogenic, Pathogenicrs397507480GRCh37Chr 7, 140454033: 140454033
32BRAFNM_004333.4(BRAF): c.1787G> T (p.Gly596Val)SNVPathogenicrs397507483GRCh37Chr 7, 140453148: 140453148
33BRAFNM_004333.4(BRAF): c.1799T> G (p.Val600Gly)SNVPathogenicrs113488022GRCh37Chr 7, 140453136: 140453136
34MAP2K1NM_002755.3(MAP2K1): c.388T> C (p.Tyr130His)SNVPathogenicrs397516793GRCh37Chr 15, 66729180: 66729180
35MAP2K2NM_030662.3(MAP2K2): c.181A> G (p.Lys61Glu)SNVLikely pathogenic, Pathogenicrs730880517GRCh37Chr 19, 4117539: 4117539
36MAP2K1NM_002755.3(MAP2K1): c.199G> A (p.Asp67Asn)SNVPathogenicrs727504317GRCh37Chr 15, 66727483: 66727483
37BRAFNM_004333.4(BRAF): c.1720C> T (p.His574Tyr)SNVPathogenicrs397516894GRCh37Chr 7, 140454008: 140454008
38BRAFNM_004333.4(BRAF): c.1743T> A (p.Asn581Lys)SNVPathogenicrs397516895GRCh37Chr 7, 140453192: 140453192
39MAP2K2NM_030662.3(MAP2K2): c.170T> G (p.Phe57Cys)SNVPathogenicrs121434497GRCh37Chr 19, 4117550: 4117550
40MAP2K2NM_030662.3(MAP2K2): c.400T> C (p.Tyr134His)SNVLikely pathogenic, Pathogenicrs121434499GRCh37Chr 19, 4110557: 4110557
41MAP2K2NM_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 all 45)
idSuper pathwaysScoreTop Affiliating Genes
18.6HRAS, MAP2K1, MAP2K2, MAPK1, RAF1
28.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
3
Show member pathways
8.2HRAS, MAP2K1, MAPK1, PTPN11, RAF1, SOS1
48.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
58.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
68.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
7
Show member pathways
8.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
8
Show member pathways
8.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
98.1BRAF, KRAS, MAP2K1, MAP2K2, MAPK1, RAF1
10
Show member pathways
8.0HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
118.0HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
12
Show member pathways
8.0HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
138.0HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
14
Show member pathways
7.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
15
Show member pathways
7.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
16
Show member pathways
7.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
17
Show member pathways
7.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
18
Show member pathways
7.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
197.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
207.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
21
Show member pathways
7.7HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, PTPN11
22
Show member pathways
7.7HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, PTPN11
237.6BRAF, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
24
Show member pathways
7.6BRAF, HRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
257.5HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
26
Show member pathways
7.5HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
277.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
28
Show member pathways
7.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
29
Show member pathways
7.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
30
Show member pathways
7.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
31
Show member pathways
7.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
32
Show member pathways
7.2HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
33
Show member pathways
7.2HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
347.1HRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1, PTPN11
356.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
36
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
37
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
38
Show member pathways
6.8HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
39
Show member pathways
6.8HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
40
Show member pathways
6.8HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
41
Show member pathways
6.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
42
Show member pathways
6.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
436.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
44
Show member pathways
6.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
456.2HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1

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
1pseudopodiumGO:003114310.2MAPK1, RAF1
2late endosomeGO:000577010.0MAP2K1, MAP2K2, MAPK1
3focal adhesionGO:00059259.3KRAS, MAP2K1, MAP2K2, MAPK1
4Golgi apparatusGO:00057949.1HRAS, MAP2K1, MAP2K2, MAPK1, RAF1
5mitochondrionGO:00057398.7BRAF, KRAS, MAP2K1, MAP2K2, MAPK1, PTPN11
6cytosolGO:00058296.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
7cytoplasmGO:00057375.3BRAF, HRAS, KRAS, KRT74, MAP2K1, MAP2K2

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

(show all 42)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of production of miRNAs involved in gene silencing by miRNAGO:190380010.7MAP2K1, MAP2K2
2epithelial cell proliferation involved in lung morphogenesisGO:006050210.6MAP2K1, MAP2K2
3cerebellar cortex formationGO:002169710.5MAP2K1, PTPN11
4cellular senescenceGO:009039810.5HRAS, MAP2K1
5ERBB signaling pathwayGO:003812710.4MAPK1, PTPN11
6lung morphogenesisGO:006042510.3MAP2K1, MAPK1
7positive regulation of axonogenesisGO:005077210.3BRAF, MAP2K1, MAP2K2
8regulation of axon regenerationGO:004867910.3BRAF, MAP2K1, MAP2K2
9regulation of Golgi inheritanceGO:009017010.2MAP2K1, MAP2K2, MAPK1
10regulation of stress-activated MAPK cascadeGO:003287210.2MAP2K1, MAP2K2, MAPK1
11intermediate filament cytoskeleton organizationGO:004510410.1KRT74, RAF1
12Bergmann glial cell differentiationGO:006002010.0MAP2K1, MAPK1, PTPN11
13ERBB2 signaling pathwayGO:003812810.0HRAS, KRAS, SOS1
14stimulatory C-type lectin receptor signaling pathwayGO:000222310.0HRAS, KRAS, RAF1
15positive regulation of Ras protein signal transductionGO:004657910.0HRAS, SHOC2
16positive regulation of protein phosphorylationGO:000193410.0HRAS, KRAS, RAF1
17ERK1 and ERK2 cascadeGO:00703719.9MAP2K1, MAP2K2, MAPK1
18trachea formationGO:00604409.9MAP2K1, MAP2K2, MAPK1
19neurotrophin TRK receptor signaling pathwayGO:00480119.9PTPN11, RAF1, SOS1
20proteolysis in other organismGO:00358979.9MAP2K1, MAP2K2, MAP2K7
21negative regulation of neuron apoptotic processGO:00435249.9BRAF, HRAS, KRAS
22animal organ morphogenesisGO:00098879.9BRAF, HRAS, MAPK1
23regulation of long-term neuronal synaptic plasticityGO:00481699.8HRAS, KRAS
24positive regulation of telomere cappingGO:19043559.8MAP2K7, MAPK1
25regulation of early endosome to late endosome transportGO:20006419.8MAP2K1, MAP2K2, MAPK1
26chemotaxisGO:00069359.7HRAS, MAP2K1, MAPK1
27platelet activationGO:00301689.7MAPK1, PTPN11, RAF1
28epidermal growth factor receptor signaling pathwayGO:00071739.6HRAS, KRAS, PTPN11, SOS1
29leukocyte migrationGO:00509009.5HRAS, KRAS, PTPN11, SOS1
30positive regulation of gene expressionGO:00106289.4BRAF, HRAS, KRAS, MAP2K1
31activation of MAPK activityGO:00001879.4MAP2K1, MAP2K2, MAPK1, PTPN11
32thyroid gland developmentGO:00308789.4BRAF, MAP2K1, MAP2K2, MAPK1, RAF1
33face developmentGO:00603249.4BRAF, MAP2K1, MAP2K2, MAPK1, RAF1
34thymus developmentGO:00485389.3BRAF, MAP2K1, MAP2K2, MAPK1, RAF1
35Ras protein signal transductionGO:00072659.1HRAS, KRAS, SHOC2, SOS1
36fibroblast growth factor receptor signaling pathwayGO:00085439.1MAPK1, PTPN11, SHOC2, SPRED1
37axon guidanceGO:00074119.1HRAS, KRAS, MAPK1, SOS1
38heart developmentGO:00075078.9MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
39positive regulation of ERK1 and ERK2 cascadeGO:00703748.7BRAF, HRAS, MAP2K1, MAP2K2, PTPN11
40Fc-epsilon receptor signaling pathwayGO:00380958.7HRAS, KRAS, MAP2K7, MAPK1, SOS1
41signal transductionGO:00071657.7HRAS, MAP2K1, MAP2K7, MAPK1, RAF1, SOS1
42MAPK cascadeGO:00001657.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activator activityGO:004353910.5MAP2K1, MAP2K2
2MAP kinase kinase kinase activityGO:000470910.5BRAF, RAF1
3small GTPase bindingGO:003126710.5BRAF, RAF1
4mitogen-activated protein kinase kinase bindingGO:003143410.3BRAF, RAF1
5MAP kinase kinase activityGO:00047089.8MAP2K1, MAP2K2, MAP2K7
6mitogen-activated protein kinase kinase kinase bindingGO:00314359.7MAP2K7, MAPK1
7protein tyrosine kinase activityGO:00047139.6MAP2K1, MAP2K2, MAP2K7
8protein kinase activityGO:00046729.4BRAF, MAP2K1, MAPK1, RAF1
9protein serine/threonine kinase activityGO:00046749.1BRAF, MAP2K1, MAP2K2, MAPK1, RAF1
10protein kinase bindingGO:00199018.4MAP2K1, MAP2K7, MAPK1, SPRED1
11ATP bindingGO:00055247.6BRAF, MAP2K1, MAP2K2, MAP2K7, MAPK1, RAF1

Sources for Cardiofaciocutaneous Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet