CFC1
MCID: CRD224
MIFTS: 66

Cardiofaciocutaneous Syndrome 1 (CFC1)

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

Aliases & Classifications for Cardiofaciocutaneous Syndrome 1

MalaCards integrated aliases for Cardiofaciocutaneous Syndrome 1:

Name: Cardiofaciocutaneous Syndrome 1 57 75 29 6
Cardiofaciocutaneous Syndrome 57 12 76 24 53 25 59 37 13 15
Cfc Syndrome 57 12 24 53 25 59 75 55
Cardio-Facio-Cutaneous Syndrome 53 25 75 29 6
Cfc1 57 75
Cfcs 57 75
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities and Growth Failure 53
Cardiofaciocutaneous Syndrome, Type 1 40
Cardio-Facial-Cutaneous Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
cardiofaciocutaneous syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
associated with advanced paternal age
most cases are sporadic
autosomal dominant transmission has been rarely reported
phenotypic similarities to noonan syndrome
phenotypic similarities to costello syndrome


HPO:

32
cardiofaciocutaneous syndrome 1:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is complete in cfc syndrome...

Classifications:



Summaries for Cardiofaciocutaneous Syndrome 1

OMIM : 57 Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). The heart defects include pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy. Some patients have ectodermal abnormalities such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition. Typical facial characteristics include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Most cases occur sporadically, but autosomal dominant transmission has been rarely reported (Linden and Price, 2011). Roberts et al. (2006) provided a detailed review of CFC syndrome, including a discussion of the phenotypic overlap of CFC syndrome with Noonan syndrome (NS1; 163950) and Costello syndrome (218040). (115150)

MalaCards based summary : Cardiofaciocutaneous Syndrome 1, also known as cardiofaciocutaneous syndrome, is related to costello syndrome and myelodysplastic myeloproliferative cancer. An important gene associated with Cardiofaciocutaneous Syndrome 1 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are MAPK signaling pathway and Innate Immune System. Affiliated tissues include heart, skin and bone, and related phenotypes are macrocephaly and hypertelorism

Disease Ontology : 12 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, and 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 : 53 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.

UniProtKB/Swiss-Prot : 75 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 : 76 Cardiofaciocutaneous (CFC) syndrome is an extremely rare and serious genetic... more...

GeneReviews: NBK1186

Related Diseases for Cardiofaciocutaneous Syndrome 1

Diseases in the Cardiofaciocutaneous Syndrome 1 family:

Cardiofaciocutaneous Syndrome 2 Cardiofaciocutaneous Syndrome 3
Cardiofaciocutaneous Syndrome 4

Diseases related to Cardiofaciocutaneous Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 costello syndrome 31.5 SOS1 PTPN11 MAP2K2 MAP2K1 KRAS HRAS
2 myelodysplastic myeloproliferative cancer 30.5 PTPN11 HRAS
3 hypertrophic cardiomyopathy 29.9 SOS1 PTPN11 KRAS BRAF
4 noonan syndrome 1 29.5 SOS1 SHOC2 PTPN11 MAP2K2 MAP2K1 KRAS
5 heterotaxy 11.7
6 heart disease 11.6
7 biliary atresia 11.5
8 double outlet right ventricle 11.5
9 heterotaxy, visceral, 2, autosomal 11.4
10 visceral heterotaxy 11.3
11 cardiofaciocutaneous syndrome 2 11.1
12 dextro-looped transposition of the great arteries 11.1
13 heart septal defect 11.1
14 cardiofaciocutaneous syndrome 4 11.1
15 woolly hair, autosomal dominant 11.0
16 hypotrichosis 8 11.0
17 pectus carinatum 11.0
18 cardiofaciocutaneous syndrome 3 11.0
19 atrial heart septal defect 11.0
20 biliary atresia with splenic malformation syndrome 11.0
21 isolated congenitally uncorrected transposition of the great arteries 11.0
22 congenitally uncorrected transposition of the great arteries with cardiac malformation 11.0
23 congenitally uncorrected transposition of the great arteries with coarctation 11.0
24 encephalopathy 10.4
25 urachal adenocarcinoma 10.2 KRAS BRAF
26 hyperplastic polyposis syndrome 10.2 KRAS BRAF
27 syringocystadenoma papilliferum 10.2 KRAS BRAF
28 sigmoid neoplasm 10.2 KRAS HRAS
29 apocrine adenoma 10.2 KRAS HRAS
30 spitz nevus 10.2 HRAS BRAF
31 lentigines 10.2 PTPN11 BRAF
32 hyperprolactinemia 10.2
33 hemangioma 10.2
34 status epilepticus 10.2
35 epilepsy 10.2
36 myeloproliferative neoplasm 10.2
37 chondroblastoma 10.2
38 hepatoblastoma 10.2
39 growth hormone deficiency 10.2
40 precocious puberty 10.2
41 multifocal atrial tachycardia 10.2
42 neurofibromatosis-noonan syndrome 10.2 PTPN11 MAP2K2
43 periampullary adenoma 10.2 KRAS HRAS
44 noonan syndrome with multiple lentigines 10.2 PTPN11 BRAF
45 schimmelpenning-feuerstein-mims syndrome 10.2 KRAS HRAS
46 mature teratoma 10.2 KRAS BRAF
47 bile duct cysts 10.2 KRAS HRAS
48 ovarian melanoma 10.2 MAP2K1 HRAS
49 aggressive digital papillary adenocarcinoma 10.2 KRAS HRAS
50 villonodular synovitis 10.2 SOS1 PTPN11

Graphical network of the top 20 diseases related to Cardiofaciocutaneous Syndrome 1:



Diseases related to Cardiofaciocutaneous Syndrome 1

Symptoms & Phenotypes for Cardiofaciocutaneous Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
nystagmus
strabismus
myopia
more
Chest External Features:
pectus excavatum
pectus carinatum

Neurologic Central Nervous System:
hydrocephalus
seizures
hypertonia
hypotonia
mild to moderate mental retardation
more
Growth Other:
failure to thrive

Head And Neck Face:
coarse facial features
prominent forehead
micrognathia
prominent philtrum
bitemporal narrowing
more
Head And Neck Nose:
depressed nasal bridge
short upturned nose
bulbous nasal tip

Skin Nails Hair Skin:
ichthyosis
cavernous hemangioma
multiple lentigines
multiple palmar creases
severe atopic dermatitis
more
Head And Neck Head:
dolichocephaly
macrocephaly, relative

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Hair:
slow-growing hair
absence of eyebrows
absence of eyelashes
sparse, curly hair

Growth Height:
short stature, postnatal

Neurologic Peripheral Nervous System:
peripheral axonal neuropathy (uncommon)

Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss
earlobe creases

Skeletal Hands:
clinodactyly
multiple palmar creases
hyperextensible fingers

Skeletal:
osteopenia
delayed bone age
joint hyperextensibility

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
vomiting
poor feeding
dysmotility

Abdomen Spleen:
splenomegaly

Head And Neck Teeth:
open bite
malocclusion
posterior crossbite

Cardiovascular Heart:
hypertrophic cardiomyopathy
pulmonic stenosis
atrial septal defects

Head And Neck Mouth:
open mouth
tongue thrusting
high-arched palate
submucous cleft palate

Genitourinary Kidneys:
hydronephrosis

Skeletal Feet:
multiple plantar creases

Prenatal Manifestations Delivery:
premature delivery


Clinical features from OMIM:

115150

Human phenotypes related to Cardiofaciocutaneous Syndrome 1:

59 32 (show top 50) (show all 124)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
3 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
4 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
5 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
6 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
7 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
8 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
9 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
10 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
11 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
12 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
13 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
14 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
15 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
16 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
17 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
18 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
19 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
20 abnormality of the ulna 59 32 frequent (33%) Frequent (79-30%) HP:0002997
21 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
22 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
23 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
24 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
25 ichthyosis 59 32 frequent (33%) Frequent (79-30%) HP:0008064
26 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
27 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
28 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
29 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
30 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
31 hyperkeratosis 59 32 Frequent (79-30%) HP:0000962
32 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
33 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
34 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
35 cavernous hemangioma 59 32 frequent (33%) Frequent (79-30%) HP:0001048
36 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
37 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
38 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
39 lymphedema 59 32 occasional (7.5%) Occasional (29-5%) HP:0001004
40 cubitus valgus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002967
41 webbed neck 59 32 frequent (33%) Frequent (79-30%) HP:0000465
42 failure to thrive in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001531
43 low posterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0002162
44 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
45 atrial septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001631
46 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
47 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
48 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
49 multiple cafe-au-lait spots 59 32 frequent (33%) Frequent (79-30%) HP:0007565
50 long face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000276

GenomeRNAi Phenotypes related to Cardiofaciocutaneous Syndrome 1 according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.09 BRAF HRAS KRAS
2 Decreased viability GR00106-A-0 10.09 KRAS
3 Decreased viability GR00221-A-1 10.09 HRAS KRAS
4 Decreased viability GR00221-A-2 10.09 HRAS KRAS
5 Decreased viability GR00221-A-3 10.09 HRAS
6 Decreased viability GR00221-A-4 10.09 BRAF
7 Decreased viability GR00301-A 10.09 BRAF KRAS
8 Decreased viability GR00381-A-1 10.09 BRAF KRAS
9 Decreased viability GR00402-S-2 10.09 BRAF HRAS KRAS
10 Decreased cell migration GR00055-A-1 9.72 BRAF HRAS KRAS MAP2K2 SOS1
11 Decreased substrate adherent cell growth GR00193-A-2 9.65 MAP2K7
12 Decreased substrate adherent cell growth GR00193-A-3 9.65 BRAF MAP2K2 MAP2K7
13 Decreased substrate adherent cell growth GR00193-A-4 9.65 BRAF
14 Increased cell migration GR00055-A-3 9.26 BRAF HRAS KRAS SOS1
15 Reduced mammosphere formation GR00396-S 9.1 BRAF HRAS KRAS PTPN11 SHOC2 SOS1

MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome 1:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.21 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
2 craniofacial MP:0005382 10.2 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
3 growth/size/body region MP:0005378 10.19 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
4 behavior/neurological MP:0005386 10.17 BRAF HRAS JAKMIP1 KRAS MAP2K2 MAP2K7
5 digestive/alimentary MP:0005381 10.14 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
6 endocrine/exocrine gland MP:0005379 10.11 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
7 homeostasis/metabolism MP:0005376 10.11 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
8 mortality/aging MP:0010768 10.1 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
9 integument MP:0010771 10.09 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
10 embryo MP:0005380 10.07 BRAF KRAS MAP2K1 PTPN11 RASA1 SHOC2
11 nervous system MP:0003631 10.02 BRAF HRAS JAKMIP1 KRAS MAP2K1 MAP2K7
12 hearing/vestibular/ear MP:0005377 9.95 BRAF KRAS MAP2K1 MAP2K2 PTPN11 RASA1
13 neoplasm MP:0002006 9.91 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
14 normal MP:0002873 9.86 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
15 respiratory system MP:0005388 9.63 BRAF HRAS KRAS PTPN11 SHOC2 SPRED1
16 skeleton MP:0005390 9.56 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
17 vision/eye MP:0005391 9.17 BRAF KRAS MAP2K1 MAP2K2 MAP2K7 PTPN11

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome 1

Search Clinical Trials , NIH Clinical Center for Cardiofaciocutaneous Syndrome 1

Genetic Tests for Cardiofaciocutaneous Syndrome 1

Genetic tests related to Cardiofaciocutaneous Syndrome 1:

# Genetic test Affiliating Genes
1 Cardiofaciocutaneous Syndrome 1 29 BRAF
2 Cardio-Facio-Cutaneous Syndrome 29

Anatomical Context for Cardiofaciocutaneous Syndrome 1

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 1:

41
Heart, Skin, Bone, Lung, Brain, Eye, Pancreas

Publications for Cardiofaciocutaneous Syndrome 1

Articles related to Cardiofaciocutaneous Syndrome 1:

(show all 43)
# Title Authors Year
1
A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC? ( 29704308 )
2018
2
Unusual hair findings in a child with cardiofaciocutaneous syndrome. ( 30094826 )
2018
3
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients. ( 30141192 )
2018
4
Nevus cells of cardiofaciocutaneous syndrome bear BRAF germ-line and somatic double mutations. ( 30406758 )
2018
5
Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant. ( 30430033 )
2018
6
An adult case of cardiofaciocutaneous syndrome with BRAF mutation. ( 28524057 )
2017
7
Cardiofaciocutaneous syndrome and the dermatologist's contribution to diagnosis. ( 28207016 )
2017
8
Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience. ( 27149079 )
2016
9
Cardiofaciocutaneous Syndrome: Case Report of a Rare Disorder. ( 28050463 )
2016
10
Vigabatrin Therapy for Infantile Spasms in a Case of Cardiofaciocutaneous Syndrome with Cardiac Hypertrophy Developing during Adrenocorticotropic Hormone Treatment. ( 27680485 )
2016
11
Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome. ( 26842671 )
2016
12
Anesthesia for a pediatric patient with cardiofaciocutaneous syndrome. ( 25827862 )
2015
13
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. ( 26242988 )
2015
14
Emergence of a Genetic Diagnosis: Case Presentation of a Preterm Infant With Cardiofaciocutaneous Syndrome. ( 26225596 )
2015
15
Clinicopathologic evaluation of cardiofaciocutaneous syndrome: overcoming the challenges of diagnosing a rare genodermatosis. ( 25514835 )
2015
16
[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients]. ( 25194980 )
2015
17
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation. ( 25487361 )
2015
18
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. ( 25346259 )
2014
19
The perinatal presentation of cardiofaciocutaneous syndrome. ( 24719372 )
2014
20
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. ( 25250515 )
2014
21
My memories of Professor Giovanni Neri: the cardiofaciocutaneous syndrome (CFC). ( 24166813 )
2013
22
Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation. ( 24303953 )
2013
23
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review. ( 24283439 )
2013
24
Cardiofaciocutaneous syndrome. ( 24600094 )
2013
25
Cardiofaciocutaneous syndrome: a rare entity. ( 22837569 )
2012
26
Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. ( 21178588 )
2011
27
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. ( 20523244 )
2011
28
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. ( 21062266 )
2011
29
Eccrine squamous metaplasia and periadnexal granulomas: new cutaneous histopathologic findings in cardiofaciocutaneous syndrome. ( 19804494 )
2010
30
Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts. ( 20518782 )
2010
31
The cardiofaciocutaneous syndrome: prenatal findings in two patients. ( 18022830 )
2008
32
Tetralogy of Fallot and hypertrophic cardiomyopathy in a case of cardiofaciocutaneous syndrome. ( 18773675 )
2008
33
Peripheral neuropathy in cardiofaciocutaneous syndrome. ( 17437909 )
2007
34
The cardiofaciocutaneous syndrome. ( 16825433 )
2006
35
Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. ( 16007634 )
2005
36
Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature. ( 15096145 )
2004
37
CFC index for the diagnosis of cardiofaciocutaneous syndrome. ( 12239713 )
2002
38
Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. ( 10528867 )
1999
39
Cardiofaciocutaneous Syndrome ( 20301365 )
1993
40
Retinal dystrophy in the cardiofaciocutaneous syndrome. ( 8410580 )
1993
41
Cardiofaciocutaneous syndrome. ( 8420490 )
1993
42
Cardiofaciocutaneous syndrome with new ectodermal manifestations. ( 1619641 )
1992
43
Cardiofaciocutaneous syndrome. ( 1342862 )
1992

Variations for Cardiofaciocutaneous Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Cardiofaciocutaneous Syndrome 1:

75 (show all 24)
# Symbol AA change Variation ID SNP ID
1 BRAF p.Gly469Glu VAR_018621 rs121913355
2 BRAF p.Phe595Leu VAR_018625 rs121913341
3 BRAF p.Ala246Pro VAR_026113 rs180177034
4 BRAF p.Gln257Arg VAR_026114 rs180177035
5 BRAF p.Leu485Phe VAR_026115 rs180177036
6 BRAF p.Lys499Glu VAR_026116 rs180177037
7 BRAF p.Glu501Gly VAR_026117 rs180177039
8 BRAF p.Glu501Lys VAR_026118 rs180177038
9 BRAF p.Asn581Asp VAR_026119 rs180177040
10 BRAF p.Ser467Ala VAR_035096 rs869025606
11 BRAF p.Phe468Ser VAR_035097 rs397507473
12 BRAF p.Gly596Val VAR_035098 rs397507483
13 BRAF p.Thr241Pro VAR_058621 rs387906661
14 BRAF p.Leu245Phe VAR_058623 rs397507466
15 BRAF p.Glu275Lys VAR_058624
16 BRAF p.Lys499Asn VAR_058625 rs397507476
17 BRAF p.Leu525Pro VAR_058626 rs869025340
18 BRAF p.Thr599Arg VAR_058628 rs121913375
19 BRAF p.Lys601Gln VAR_058629 rs121913364
20 BRAF p.Asp638Glu VAR_058630 rs180177042
21 BRAF p.Gln709Arg VAR_058631 rs397507486
22 BRAF p.Thr244Pro VAR_065171 rs397507465
23 BRAF p.Gln262Lys VAR_065172 rs397507470
24 BRAF p.Asn580Asp VAR_065173

ClinVar genetic disease variations for Cardiofaciocutaneous Syndrome 1:

6 (show top 50) (show all 393)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRAS NM_004985.4(KRAS): c.178G> C (p.Gly60Arg) single nucleotide variant Pathogenic rs104894359 GRCh37 Chromosome 12, 25380280: 25380280
2 KRAS NM_004985.4(KRAS): c.178G> C (p.Gly60Arg) single nucleotide variant Pathogenic rs104894359 GRCh38 Chromosome 12, 25227346: 25227346
3 BRAF NM_004333.4(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic rs113488022 GRCh37 Chromosome 7, 140453136: 140453136
4 BRAF NM_004333.4(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic rs113488022 GRCh38 Chromosome 7, 140753336: 140753336
5 BRAF NM_004333.4(BRAF): c.736G> C (p.Ala246Pro) single nucleotide variant Pathogenic rs180177034 GRCh38 Chromosome 7, 140801536: 140801536
6 BRAF NM_004333.4(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic rs113488022 NCBI36 Chromosome 7, 140099605: 140099605
7 BRAF NM_004333.4(BRAF): c.736G> C (p.Ala246Pro) single nucleotide variant Pathogenic rs180177034 GRCh37 Chromosome 7, 140501336: 140501336
8 BRAF NM_004333.4(BRAF): c.770A> G (p.Gln257Arg) single nucleotide variant Pathogenic rs180177035 GRCh37 Chromosome 7, 140501302: 140501302
9 BRAF NM_004333.4(BRAF): c.770A> G (p.Gln257Arg) single nucleotide variant Pathogenic rs180177035 GRCh38 Chromosome 7, 140801502: 140801502
10 BRAF NM_004333.5(BRAF): c.1406G> A (p.Gly469Glu) single nucleotide variant Pathogenic rs121913355 GRCh37 Chromosome 7, 140481402: 140481402
11 BRAF NM_004333.5(BRAF): c.722C> T (p.Thr241Met) single nucleotide variant Pathogenic/Likely pathogenic rs387906660 GRCh37 Chromosome 7, 140501350: 140501350
12 BRAF NM_004333.5(BRAF): c.722C> T (p.Thr241Met) single nucleotide variant Pathogenic/Likely pathogenic rs387906660 GRCh38 Chromosome 7, 140801550: 140801550
13 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh37 Chromosome 7, 140501351: 140501351
14 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh38 Chromosome 7, 140801551: 140801551
15 BRAF NM_004333.4(BRAF): c.735A> T (p.Leu245Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs397507466 GRCh37 Chromosome 7, 140501337: 140501337
16 BRAF NM_004333.4(BRAF): c.735A> T (p.Leu245Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs397507466 GRCh38 Chromosome 7, 140801537: 140801537
17 BRAF NM_004333.4(BRAF): c.1227A> G (p.Ser409=) single nucleotide variant Benign rs145035762 GRCh37 Chromosome 7, 140482908: 140482908
18 BRAF NM_004333.4(BRAF): c.1227A> G (p.Ser409=) single nucleotide variant Benign rs145035762 GRCh38 Chromosome 7, 140783108: 140783108
19 BRAF NM_004333.4(BRAF): c.1332G> A (p.Arg444=) single nucleotide variant Benign rs56101602 GRCh37 Chromosome 7, 140481476: 140481476
20 BRAF NM_004333.4(BRAF): c.1332G> A (p.Arg444=) single nucleotide variant Benign rs56101602 GRCh38 Chromosome 7, 140781676: 140781676
21 BRAF NM_004333.4(BRAF): c.1383A> G (p.Gln461=) single nucleotide variant Benign rs56216404 GRCh37 Chromosome 7, 140481425: 140481425
22 BRAF NM_004333.4(BRAF): c.1383A> G (p.Gln461=) single nucleotide variant Benign rs56216404 GRCh38 Chromosome 7, 140781625: 140781625
23 BRAF NM_004333.4(BRAF): c.1403T> C (p.Phe468Ser) single nucleotide variant Pathogenic rs397507473 GRCh37 Chromosome 7, 140481405: 140481405
24 BRAF NM_004333.4(BRAF): c.1403T> C (p.Phe468Ser) single nucleotide variant Pathogenic rs397507473 GRCh38 Chromosome 7, 140781605: 140781605
25 BRAF NM_004333.4(BRAF): c.1447A> C (p.Lys483Gln) single nucleotide variant Likely pathogenic rs397507474 GRCh37 Chromosome 7, 140477861: 140477861
26 BRAF NM_004333.4(BRAF): c.1454T> C (p.Leu485Ser) single nucleotide variant Pathogenic/Likely pathogenic rs397507475 GRCh37 Chromosome 7, 140477854: 140477854
27 BRAF NM_004333.4(BRAF): c.1454T> C (p.Leu485Ser) single nucleotide variant Pathogenic/Likely pathogenic rs397507475 GRCh38 Chromosome 7, 140778054: 140778054
28 BRAF NM_004333.4(BRAF): c.1502A> T (p.Glu501Val) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh37 Chromosome 7, 140477806: 140477806
29 BRAF NM_004333.4(BRAF): c.1502A> T (p.Glu501Val) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh38 Chromosome 7, 140778006: 140778006
30 BRAF NM_004333.4(BRAF): c.1592G> T (p.Trp531Leu) single nucleotide variant Likely pathogenic rs397507478 GRCh37 Chromosome 7, 140476814: 140476814
31 BRAF NM_004333.4(BRAF): c.1592G> T (p.Trp531Leu) single nucleotide variant Likely pathogenic rs397507478 GRCh38 Chromosome 7, 140777014: 140777014
32 BRAF NM_004333.4(BRAF): c.1595G> A (p.Cys532Tyr) single nucleotide variant Likely pathogenic rs397507479 GRCh37 Chromosome 7, 140476811: 140476811
33 BRAF NM_004333.4(BRAF): c.1595G> A (p.Cys532Tyr) single nucleotide variant Likely pathogenic rs397507479 GRCh38 Chromosome 7, 140777011: 140777011
34 BRAF NM_004333.4(BRAF): c.1695T> G (p.Asp565Glu) single nucleotide variant Likely pathogenic rs397507480 GRCh37 Chromosome 7, 140454033: 140454033
35 BRAF NM_004333.4(BRAF): c.1695T> G (p.Asp565Glu) single nucleotide variant Likely pathogenic rs397507480 GRCh38 Chromosome 7, 140754233: 140754233
36 BRAF NM_004333.4(BRAF): c.1722C> G (p.His574Gln) single nucleotide variant Pathogenic rs397507481 GRCh37 Chromosome 7, 140454006: 140454006
37 BRAF NM_004333.4(BRAF): c.1722C> G (p.His574Gln) single nucleotide variant Pathogenic rs397507481 GRCh38 Chromosome 7, 140754206: 140754206
38 BRAF NM_004333.4(BRAF): c.1787G> T (p.Gly596Val) single nucleotide variant Pathogenic rs397507483 GRCh37 Chromosome 7, 140453148: 140453148
39 BRAF NM_004333.4(BRAF): c.1787G> T (p.Gly596Val) single nucleotide variant Pathogenic rs397507483 GRCh38 Chromosome 7, 140753348: 140753348
40 BRAF NM_004333.4(BRAF): c.1799T> G (p.Val600Gly) single nucleotide variant Pathogenic rs113488022 GRCh37 Chromosome 7, 140453136: 140453136
41 BRAF NM_004333.4(BRAF): c.1799T> G (p.Val600Gly) single nucleotide variant Pathogenic rs113488022 GRCh38 Chromosome 7, 140753336: 140753336
42 BRAF NM_004333.4(BRAF): c.1929A> G (p.Gly643=) single nucleotide variant Benign rs9648696 GRCh37 Chromosome 7, 140449150: 140449150
43 BRAF NM_004333.4(BRAF): c.1929A> G (p.Gly643=) single nucleotide variant Benign rs9648696 GRCh38 Chromosome 7, 140749350: 140749350
44 BRAF NM_004333.4(BRAF): c.2235A> G (p.Leu745=) single nucleotide variant Benign rs56046546 GRCh37 Chromosome 7, 140434463: 140434463
45 BRAF NM_004333.4(BRAF): c.2235A> G (p.Leu745=) single nucleotide variant Benign rs56046546 GRCh38 Chromosome 7, 140734663: 140734663
46 MAP2K1 NM_002755.3(MAP2K1): c.-85G> C single nucleotide variant Likely benign rs112542693 GRCh37 Chromosome 15, 66679601: 66679601
47 MAP2K1 NM_002755.3(MAP2K1): c.-85G> C single nucleotide variant Likely benign rs112542693 GRCh38 Chromosome 15, 66387263: 66387263
48 MAP2K1 NM_002755.3(MAP2K1): c.-31dupC duplication Benign/Likely benign rs730880340 GRCh37 Chromosome 15, 66679655: 66679655
49 MAP2K1 NM_002755.3(MAP2K1): c.-31dupC duplication Benign/Likely benign rs730880340 GRCh38 Chromosome 15, 66387317: 66387317
50 MAP2K1 NM_002755.3(MAP2K1): c.-2A> G single nucleotide variant Benign/Likely benign rs77796976 GRCh37 Chromosome 15, 66679684: 66679684

Expression for Cardiofaciocutaneous Syndrome 1

Search GEO for disease gene expression data for Cardiofaciocutaneous Syndrome 1.

Pathways for Cardiofaciocutaneous Syndrome 1

Pathways related to Cardiofaciocutaneous Syndrome 1 according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010

Pathways related to Cardiofaciocutaneous Syndrome 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 191)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.1 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
2
Show member pathways
13.91 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
3
Show member pathways
13.9 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
4
Show member pathways
13.81 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
5
Show member pathways
13.79 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
6
Show member pathways
13.71 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
7
Show member pathways
13.64 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
8
Show member pathways
13.6 BRAF HRAS KRAS KRT74 MAP2K1 MAP2K2
9
Show member pathways
13.5 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
10
Show member pathways
13.48 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
11
Show member pathways
13.35 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
12
Show member pathways
13.35 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
13
Show member pathways
13.18 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
14
Show member pathways
13.17 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 SOS1
15
Show member pathways
13.15 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 SOS1
16
Show member pathways
13.15 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
17
Show member pathways
13.15 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
18
Show member pathways
13.11 HRAS KRAS MAP2K1 MAP2K2 SOS1
19
Show member pathways
13.07 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 SOS1
20
Show member pathways
13.07 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 RASA1
21
Show member pathways
13.06 HRAS KRAS MAP2K1 MAP2K2 SOS1
22
Show member pathways
13.06 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
23
Show member pathways
13.05 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
24
Show member pathways
13.05 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
25
Show member pathways
13.04 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
26
Show member pathways
13.02 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
27
Show member pathways
13 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
28 12.98 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
29
Show member pathways
12.97 BRAF HRAS KRAS MAP2K1 SOS1
30
Show member pathways
12.97 BRAF HRAS KRAS MAP2K1 MAP2K2 SPRED1
31
Show member pathways
12.96 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
32
Show member pathways
12.93 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
33
Show member pathways
12.93 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
34
Show member pathways
12.92 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
35 12.87 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
36
Show member pathways
12.85 BRAF HRAS KRAS MAP2K1 MAP2K2
37
Show member pathways
12.84 HRAS KRAS MAP2K1 MAP2K2
38
Show member pathways
12.84 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
39
Show member pathways
12.83 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 SOS1
40
Show member pathways
12.83 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
41
Show member pathways
12.82 MAP2K1 MAP2K2 MAP2K7 PTPN11
42 12.8 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
43
Show member pathways
12.79 BRAF KRAS MAP2K1 MAP2K2 SOS1
44
Show member pathways
12.77 HRAS KRAS PTPN11 SOS1
45
Show member pathways
12.76 HRAS MAP2K1 MAP2K2 MAP2K7 SOS1
46
Show member pathways
12.75 BRAF HRAS KRAS PTPN11 SOS1 SPRED1
47
Show member pathways
12.75 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
48
Show member pathways
12.74 HRAS MAP2K1 MAP2K2 MAP2K7 SOS1
49
Show member pathways
12.74 HRAS MAP2K1 MAP2K2 PTPN11 RASA1 SOS1
50
Show member pathways
12.73 HRAS KRAS PTPN11 RASA1 SOS1

GO Terms for Cardiofaciocutaneous Syndrome 1

Cellular components related to Cardiofaciocutaneous Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.73 BRAF HRAS JAKMIP1 KRAS KRT74 MAP2K1
2 cytosol GO:0005829 9.4 BRAF HRAS KRAS KRT74 MAP2K1 MAP2K2

Biological processes related to Cardiofaciocutaneous Syndrome 1 according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.92 BRAF HRAS KRAS MAP2K1
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.78 BRAF HRAS MAP2K1 PTPN11
3 activation of protein kinase activity GO:0032147 9.77 MAP2K1 MAP2K2 MAP2K7
4 ephrin receptor signaling pathway GO:0048013 9.73 HRAS PTPN11 RASA1
5 fibroblast growth factor receptor signaling pathway GO:0008543 9.72 PTPN11 SHOC2 SPRED1
6 peptidyl-tyrosine phosphorylation GO:0018108 9.67 BRAF MAP2K1 MAP2K2 MAP2K7
7 thyroid gland development GO:0030878 9.63 BRAF MAP2K1
8 cellular senescence GO:0090398 9.63 HRAS MAP2K1
9 signal transduction by protein phosphorylation GO:0023014 9.63 MAP2K1 MAP2K2 MAP2K7
10 regulation of long-term neuronal synaptic plasticity GO:0048169 9.62 HRAS KRAS
11 neurotrophin TRK receptor signaling pathway GO:0048011 9.61 PTPN11 SOS1
12 positive regulation of Ras protein signal transduction GO:0046579 9.61 HRAS SHOC2
13 stress-activated protein kinase signaling cascade GO:0031098 9.61 MAP2K1 MAP2K2 MAP2K7
14 face development GO:0060324 9.6 BRAF MAP2K1
15 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.58 MAP2K1 MAP2K2
16 regulation of stress-activated MAPK cascade GO:0032872 9.57 MAP2K1 MAP2K2
17 negative regulation of neuron apoptotic process GO:0043524 9.56 BRAF HRAS KRAS RASA1
18 Bergmann glial cell differentiation GO:0060020 9.54 MAP2K1 PTPN11
19 regulation of axon regeneration GO:0048679 9.52 BRAF MAP2K1
20 regulation of early endosome to late endosome transport GO:2000641 9.51 MAP2K1 MAP2K2
21 response to isolation stress GO:0035900 9.49 HRAS KRAS
22 activation of MAPK activity GO:0000187 9.46 MAP2K1 MAP2K2 MAP2K7 PTPN11
23 regulation of Golgi inheritance GO:0090170 9.4 MAP2K1 MAP2K2
24 cerebellar cortex formation GO:0021697 9.32 MAP2K1 PTPN11
25 Ras protein signal transduction GO:0007265 9.26 HRAS KRAS SHOC2 SOS1
26 MAPK cascade GO:0000165 9.23 BRAF HRAS KRAS MAP2K1 MAP2K2 RASA1
27 signal transduction GO:0007165 10.13 BRAF HRAS KRAS MAP2K1 MAP2K7 RASA1

Molecular functions related to Cardiofaciocutaneous Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activity GO:0004674 9.56 BRAF MAP2K1 MAP2K2 MAP2K7
2 nucleotide binding GO:0000166 9.55 BRAF HRAS KRAS MAP2K1 MAP2K2
3 protein tyrosine kinase activity GO:0004713 9.26 BRAF MAP2K1 MAP2K2 MAP2K7
4 MAP kinase kinase activity GO:0004708 8.8 MAP2K1 MAP2K2 MAP2K7
5 protein binding GO:0005515 10.1 BRAF HRAS JAKMIP1 KRAS MAP2K1 MAP2K2

Sources for Cardiofaciocutaneous Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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