CFC1
MCID: CRD224
MIFTS: 64

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 58 76 30 6
Cardiofaciocutaneous Syndrome 58 12 77 25 54 26 60 38 13 15
Cfc Syndrome 58 12 25 54 26 60 76 56
Cardio-Facio-Cutaneous Syndrome 54 26 76 30 6
Cfc1 58 76
Cfcs 58 76
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities and Growth Failure 54
Cardiofaciocutaneous Syndrome, Type 1 41
Cardio-Facial-Cutaneous Syndrome 12

Characteristics:

Orphanet epidemiological data:

60
cardiofaciocutaneous syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

58
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:

33
cardiofaciocutaneous syndrome 1:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance is complete in cfc syndrome...

Classifications:



Summaries for Cardiofaciocutaneous Syndrome 1

OMIM : 58 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 lung, and related phenotypes are intellectual disability and muscular hypotonia

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 : 26 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 : 54 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 : 76 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 : 77 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 137)
# Related Disease Score Top Affiliating Genes
1 costello syndrome 31.8 HRAS KRAS MAP2K1 MAP2K2 PTPN11 SOS1
2 myelodysplastic myeloproliferative cancer 30.4 HRAS NF1 PTPN11
3 hypertrophic cardiomyopathy 30.0 BRAF KRAS PTPN11 SOS1
4 noonan syndrome 3 29.9 HRAS KRAS PTPN11 SHOC2 SOS1
5 noonan syndrome 1 28.7 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
6 heterotaxy, visceral, 2, autosomal 11.7
7 heterotaxy 11.7
8 heart disease 11.6
9 biliary atresia 11.6
10 double outlet right ventricle 11.6
11 visceral heterotaxy 11.3
12 cardiofaciocutaneous syndrome 2 11.2
13 tricuspid atresia 11.1
14 dextro-looped transposition of the great arteries 11.1
15 heart septal defect 11.1
16 atrial heart septal defect 11.1
17 cardiofaciocutaneous syndrome 4 11.1
18 woolly hair, autosomal dominant 11.1
19 hypotrichosis 8 11.1
20 pectus carinatum 11.1
21 cardiofaciocutaneous syndrome 3 11.1
22 biliary atresia with splenic malformation syndrome 11.0
23 isolated congenitally uncorrected transposition of the great arteries 11.0
24 congenitally uncorrected transposition of the great arteries with cardiac malformation 11.0
25 congenitally uncorrected transposition of the great arteries with coarctation 11.0
26 encephalopathy 10.4
27 hyperplastic polyposis syndrome 10.4 BRAF KRAS
28 rhabdomyosarcoma 10.4
29 xp22.3 microdeletion syndrome 10.4
30 sigmoid neoplasm 10.3 HRAS KRAS
31 apocrine adenoma 10.3 HRAS KRAS
32 spitz nevus 10.3 BRAF HRAS
33 lentigines 10.3 BRAF PTPN11
34 periampullary adenoma 10.3 HRAS KRAS
35 schimmelpenning-feuerstein-mims syndrome 10.3 HRAS KRAS
36 noonan syndrome with multiple lentigines 10.3 BRAF PTPN11
37 bile duct cysts 10.3 HRAS KRAS
38 ovarian melanoma 10.3 HRAS MAP2K1
39 aggressive digital papillary adenocarcinoma 10.3 HRAS KRAS
40 appendix disease 10.3 HRAS KRAS
41 villonodular synovitis 10.3 PTPN11 SOS1
42 mature teratoma 10.3 BRAF KRAS
43 lung adenoid cystic carcinoma 10.3 HRAS KRAS
44 nasal cavity adenocarcinoma 10.3 HRAS KRAS
45 refractory hairy cell leukemia 10.2 BRAF MAP2K7
46 pulmonary valve stenosis 10.2 PTPN11 SOS1
47 colonic benign neoplasm 10.2 BRAF KRAS
48 secondary hypertrophic osteoarthropathy 10.2 HRAS KRAS
49 anal canal adenocarcinoma 10.2 HRAS KRAS
50 pulmonary valve disease 10.2 PTPN11 SOS1

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



Diseases related to Cardiofaciocutaneous Syndrome 1

Symptoms & Phenotypes for Cardiofaciocutaneous Syndrome 1

Human phenotypes related to Cardiofaciocutaneous Syndrome 1:

60 33 (show top 50) (show all 125)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
6 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
7 feeding difficulties in infancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008872
8 abnormality of vision 60 33 hallmark (90%) Very frequent (99-80%) HP:0000504
9 full cheeks 60 33 hallmark (90%) Very frequent (99-80%) HP:0000293
10 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
11 dry skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000958
12 failure to thrive in infancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001531
13 atrial septal defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0001631
14 long face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000276
15 fine hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002213
16 pulmonic stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001642
17 long palpebral fissure 60 33 hallmark (90%) Very frequent (99-80%) HP:0000637
18 aplasia/hypoplasia of the eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0100840
19 thickened helices 60 33 hallmark (90%) Very frequent (99-80%) HP:0000391
20 underdeveloped supraorbital ridges 60 33 hallmark (90%) Very frequent (99-80%) HP:0009891
21 excessive wrinkled skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0007392
22 brittle hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002299
23 abnormal heart valve morphology 33 hallmark (90%) HP:0001654
24 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
25 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
26 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
27 pectus excavatum 60 33 frequent (33%) Frequent (79-30%) HP:0000767
28 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
29 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
30 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
31 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
32 eeg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0002353
33 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
34 macrotia 60 33 frequent (33%) Frequent (79-30%) HP:0000400
35 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
36 abnormality of the ulna 60 33 frequent (33%) Frequent (79-30%) HP:0002997
37 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196
38 ichthyosis 60 33 frequent (33%) Frequent (79-30%) HP:0008064
39 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
40 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
41 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
42 cavernous hemangioma 60 33 frequent (33%) Frequent (79-30%) HP:0001048
43 biparietal narrowing 60 33 frequent (33%) Frequent (79-30%) HP:0004422
44 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
45 webbed neck 60 33 frequent (33%) Frequent (79-30%) HP:0000465
46 low posterior hairline 60 33 frequent (33%) Frequent (79-30%) HP:0002162
47 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
48 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
49 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
50 multiple cafe-au-lait spots 60 33 frequent (33%) Frequent (79-30%) HP:0007565

Symptoms via clinical synopsis from OMIM:

58
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

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

27 (show all 42)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.58 HRAS KRAS BRAF
2 Decreased viability GR00106-A-0 10.58 KRAS
3 Decreased viability GR00221-A-1 10.58 HRAS KRAS MAP2K7 NF1
4 Decreased viability GR00221-A-2 10.58 HRAS KRAS NF1
5 Decreased viability GR00221-A-3 10.58 HRAS
6 Decreased viability GR00221-A-4 10.58 NF1 BRAF
7 Decreased viability GR00301-A 10.58 KRAS BRAF
8 Decreased viability GR00342-S-1 10.58 MAP2K7
9 Decreased viability GR00381-A-1 10.58 KRAS BRAF
10 Decreased viability GR00402-S-2 10.58 HRAS KRAS MAP2K7 NF1 BRAF
11 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.32 SOS1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.32 BRAF
13 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.32 PTPN11
14 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.32 SOS1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.32 PTPN11
16 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.32 SOS1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.32 SOS1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.32 PTPN11
19 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.32 BRAF NF1 PTPN11 SOS1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.32 BRAF
21 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.32 BRAF
22 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.32 PTPN11
23 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.32 PTPN11
24 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.32 BRAF
25 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.32 BRAF
26 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.32 BRAF
27 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.32 BRAF
28 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.32 PTPN11
29 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.32 NF1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.32 BRAF PTPN11
31 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.32 SOS1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.32 PTPN11
33 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.32 NF1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.32 PTPN11
35 Increased shRNA abundance (Z-score > 2) GR00366-A-97 10.32 NF1
36 Decreased cell migration GR00055-A-1 9.88 BRAF HRAS KRAS MAP2K2 NF1 SOS1
37 Decreased substrate adherent cell growth GR00193-A-2 9.77 MAP2K7
38 Decreased substrate adherent cell growth GR00193-A-3 9.77 BRAF MAP2K2 MAP2K7
39 Decreased substrate adherent cell growth GR00193-A-4 9.77 BRAF
40 Increased cell migration GR00055-A-3 9.65 BRAF HRAS KRAS NF1 SOS1
41 Reduced mammosphere formation GR00396-S 9.43 BRAF HRAS KRAS PTPN11 SHOC2 SOS1
42 shRNA abundance <= 50% GR00343-S 9.23 KRAS MAP2K1 MAP2K2 MAP2K7 NF1 POGZ

MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome 1:

47 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.27 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
2 cellular MP:0005384 10.22 BRAF KRAS MAP2K1 MAP2K2 MAP2K7 NF1
3 craniofacial MP:0005382 10.21 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
4 growth/size/body region MP:0005378 10.21 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
5 digestive/alimentary MP:0005381 10.2 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
6 behavior/neurological MP:0005386 10.19 BRAF HRAS JAKMIP1 KRAS MAP2K2 MAP2K7
7 endocrine/exocrine gland MP:0005379 10.18 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
8 homeostasis/metabolism MP:0005376 10.18 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
9 mortality/aging MP:0010768 10.17 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
10 integument MP:0010771 10.16 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
11 embryo MP:0005380 10.14 BRAF KRAS MAP2K1 NF1 PTPN11 RASA1
12 hearing/vestibular/ear MP:0005377 10.04 BRAF KRAS MAP2K1 MAP2K2 NF1 PTPN11
13 nervous system MP:0003631 10.02 BRAF HRAS JAKMIP1 KRAS MAP2K1 MAP2K7
14 neoplasm MP:0002006 9.97 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
15 normal MP:0002873 9.91 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
16 muscle MP:0005369 9.88 BRAF KRAS NF1 PTPN11 RASA1 SOS1
17 respiratory system MP:0005388 9.63 BRAF HRAS KRAS NF1 PTPN11 SHOC2
18 skeleton MP:0005390 9.61 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
19 vision/eye MP:0005391 9.23 BRAF KRAS MAP2K1 MAP2K2 MAP2K7 NF1

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 30 BRAF
2 Cardio-Facio-Cutaneous Syndrome 30

Anatomical Context for Cardiofaciocutaneous Syndrome 1

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 1:

42
Heart, Skin, Lung, Bone, Brain, Tongue, Eye

Publications for Cardiofaciocutaneous Syndrome 1

Articles related to Cardiofaciocutaneous Syndrome 1:

(show top 50) (show all 57)
# Title Authors Year
1
A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway. ( 31024343 )
2019
2
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients. ( 30141192 )
2019
3
Unusual hair findings in a child with cardiofaciocutaneous syndrome. ( 30094826 )
2019
4
Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant. ( 30430033 )
2018
5
Nevus cells of cardiofaciocutaneous syndrome bear BRAF germ-line and somatic double mutations. ( 30406758 )
2018
6
A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC? ( 29704308 )
2018
7
An adult case of cardiofaciocutaneous syndrome with BRAF mutation. ( 28524057 )
2017
8
Cardiofaciocutaneous syndrome and the dermatologist's contribution to diagnosis. ( 28207016 )
2017
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
Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience. ( 27149079 )
2016
12
Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome. ( 26842671 )
2016
13
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. ( 26242988 )
2016
14
[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients]. ( 25194980 )
2015
15
Emergence of a Genetic Diagnosis: Case Presentation of a Preterm Infant With Cardiofaciocutaneous Syndrome. ( 26225596 )
2015
16
Anesthesia for a pediatric patient with cardiofaciocutaneous syndrome. ( 25827862 )
2015
17
Clinicopathologic evaluation of cardiofaciocutaneous syndrome: overcoming the challenges of diagnosing a rare genodermatosis. ( 25514835 )
2015
18
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation. ( 25487361 )
2015
19
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. ( 25346259 )
2015
20
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). ( 25173338 )
2014
21
Guideline Recommendations for Testing of ALK Gene Rearrangement in Lung Cancer: A Proposal of the Korean Cardiopulmonary Pathology Study Group. ( 24627688 )
2014
22
Non-small cell lung cancer and precision medicine: a model for the incorporation of genomic features into clinical trial design. ( 24846033 )
2014
23
Molecular testing for selection of patients with lung cancer for epidermal growth factor receptor and anaplastic lymphoma kinase tyrosine kinase inhibitors: American Society of Clinical Oncology endorsement of the College of American Pathologists/International Association for the study of lung cancer/association for molecular pathology guideline. ( 25311215 )
2014
24
The perinatal presentation of cardiofaciocutaneous syndrome. ( 24719372 )
2014
25
Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation. ( 24303953 )
2014
26
Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome. ( 25250515 )
2014
27
Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. ( 23562183 )
2013
28
Guideline Recommendations for EGFR Mutation Testing in Lung Cancer: Proposal of the Korean Cardiopulmonary Pathology Study Group. ( 23667368 )
2013
29
Cardiofaciocutaneous syndrome. ( 24600094 )
2013
30
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review. ( 24283439 )
2013
31
My memories of Professor Giovanni Neri: the cardiofaciocutaneous syndrome (CFC). ( 24166813 )
2013
32
Cardiofaciocutaneous syndrome: a rare entity. ( 22837569 )
2012
33
Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. ( 21178588 )
2011
34
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. ( 21062266 )
2011
35
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. ( 20523244 )
2011
36
Noonan syndrome: clinical features, diagnosis, and management guidelines. ( 20876176 )
2010
37
Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts. ( 20518782 )
2010
38
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. ( 20186801 )
2010
39
Eccrine squamous metaplasia and periadnexal granulomas: new cutaneous histopathologic findings in cardiofaciocutaneous syndrome. ( 19804494 )
2010
40
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. ( 19206169 )
2009
41
The cardiofaciocutaneous syndrome: prenatal findings in two patients. ( 18022830 )
2008
42
Tetralogy of Fallot and hypertrophic cardiomyopathy in a case of cardiofaciocutaneous syndrome. ( 18773675 )
2008
43
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. ( 18042262 )
2008
44
Peripheral neuropathy in cardiofaciocutaneous syndrome. ( 17437909 )
2007
45
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. ( 16372351 )
2006
46
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. ( 16474404 )
2006
47
Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. ( 16804887 )
2006
48
The cardiofaciocutaneous syndrome. ( 16825433 )
2006
49
Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. ( 16007634 )
2005
50
Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature. ( 15096145 )
2004

Variations for Cardiofaciocutaneous Syndrome 1

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

76 (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 401)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAP2K2 NM_030662.3(MAP2K2): c.170T> G (p.Phe57Cys) single nucleotide variant Pathogenic rs121434497 GRCh37 Chromosome 19, 4117550: 4117550
2 MAP2K2 NM_030662.3(MAP2K2): c.170T> G (p.Phe57Cys) single nucleotide variant Pathogenic rs121434497 GRCh38 Chromosome 19, 4117552: 4117552
3 MAP2K2 NM_030662.3(MAP2K2): c.169T> G (p.Phe57Val) single nucleotide variant Pathogenic rs121434498 GRCh37 Chromosome 19, 4117551: 4117551
4 MAP2K2 NM_030662.3(MAP2K2): c.169T> G (p.Phe57Val) single nucleotide variant Pathogenic rs121434498 GRCh38 Chromosome 19, 4117553: 4117553
5 MAP2K2 NM_030662.3(MAP2K2): c.400T> C (p.Tyr134His) single nucleotide variant Likely pathogenic rs121434499 GRCh37 Chromosome 19, 4110557: 4110557
6 MAP2K2 NM_030662.3(MAP2K2): c.400T> C (p.Tyr134His) single nucleotide variant Likely pathogenic rs121434499 GRCh38 Chromosome 19, 4110559: 4110559
7 MAP2K2 NM_030662.3(MAP2K2): c.383C> A (p.Pro128Gln) single nucleotide variant Pathogenic rs267607230 GRCh37 Chromosome 19, 4110574: 4110574
8 MAP2K2 NM_030662.3(MAP2K2): c.383C> A (p.Pro128Gln) single nucleotide variant Pathogenic rs267607230 GRCh38 Chromosome 19, 4110576: 4110576
9 KRAS NM_004985.4(KRAS): c.178G> C (p.Gly60Arg) single nucleotide variant Pathogenic rs104894359 GRCh37 Chromosome 12, 25380280: 25380280
10 KRAS NM_004985.4(KRAS): c.178G> C (p.Gly60Arg) single nucleotide variant Pathogenic rs104894359 GRCh38 Chromosome 12, 25227346: 25227346
11 MAP2K1 NM_002755.3(MAP2K1): c.158T> C (p.Phe53Ser) single nucleotide variant Pathogenic rs121908594 GRCh37 Chromosome 15, 66727442: 66727442
12 MAP2K1 NM_002755.3(MAP2K1): c.158T> C (p.Phe53Ser) single nucleotide variant Pathogenic rs121908594 GRCh38 Chromosome 15, 66435104: 66435104
13 MAP2K1 NM_002755.3(MAP2K1): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs121908595 GRCh37 Chromosome 15, 66729181: 66729181
14 MAP2K1 NM_002755.3(MAP2K1): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs121908595 GRCh38 Chromosome 15, 66436843: 66436843
15 MAP2K1 NM_002755.3(MAP2K1): c.383G> T (p.Gly128Val) single nucleotide variant Pathogenic/Likely pathogenic rs121908596 GRCh37 Chromosome 15, 66729175: 66729175
16 MAP2K1 NM_002755.3(MAP2K1): c.383G> T (p.Gly128Val) single nucleotide variant Pathogenic/Likely pathogenic rs121908596 GRCh38 Chromosome 15, 66436837: 66436837
17 BRAF NM_004333.5(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic rs113488022 GRCh37 Chromosome 7, 140453136: 140453136
18 BRAF NM_004333.5(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic rs113488022 GRCh38 Chromosome 7, 140753336: 140753336
19 BRAF NM_004333.5(BRAF): c.736G> C (p.Ala246Pro) single nucleotide variant Pathogenic rs180177034 GRCh38 Chromosome 7, 140801536: 140801536
20 BRAF NM_004333.5(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic rs113488022 NCBI36 Chromosome 7, 140099605: 140099605
21 BRAF NM_004333.5(BRAF): c.736G> C (p.Ala246Pro) single nucleotide variant Pathogenic rs180177034 GRCh37 Chromosome 7, 140501336: 140501336
22 BRAF NM_004333.5(BRAF): c.770A> G (p.Gln257Arg) single nucleotide variant Pathogenic rs180177035 GRCh37 Chromosome 7, 140501302: 140501302
23 BRAF NM_004333.5(BRAF): c.770A> G (p.Gln257Arg) single nucleotide variant Pathogenic rs180177035 GRCh38 Chromosome 7, 140801502: 140801502
24 BRAF NM_004333.5(BRAF): c.1406G> A (p.Gly469Glu) single nucleotide variant Pathogenic rs121913355 GRCh37 Chromosome 7, 140481402: 140481402
25 BRAF NM_004333.5(BRAF): c.1406G> A (p.Gly469Glu) single nucleotide variant Pathogenic rs121913355 GRCh38 Chromosome 7, 140781602: 140781602
26 BRAF NM_004333.5(BRAF): c.1455G> C (p.Leu485Phe) single nucleotide variant Pathogenic rs180177036 GRCh37 Chromosome 7, 140477853: 140477853
27 BRAF NM_004333.5(BRAF): c.1455G> C (p.Leu485Phe) single nucleotide variant Pathogenic rs180177036 GRCh38 Chromosome 7, 140778053: 140778053
28 BRAF NM_004333.5(BRAF): c.1495A> G (p.Lys499Glu) single nucleotide variant Pathogenic/Likely pathogenic rs180177037 GRCh37 Chromosome 7, 140477813: 140477813
29 BRAF NM_004333.5(BRAF): c.1495A> G (p.Lys499Glu) single nucleotide variant Pathogenic/Likely pathogenic rs180177037 GRCh38 Chromosome 7, 140778013: 140778013
30 BRAF NM_004333.4(BRAF): c.1501G> A (p.Glu501Lys) single nucleotide variant Pathogenic/Likely pathogenic rs180177038 GRCh37 Chromosome 7, 140477807: 140477807
31 BRAF NM_004333.4(BRAF): c.1501G> A (p.Glu501Lys) single nucleotide variant Pathogenic/Likely pathogenic rs180177038 GRCh38 Chromosome 7, 140778007: 140778007
32 BRAF NM_004333.5(BRAF): c.1502A> G (p.Glu501Gly) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh37 Chromosome 7, 140477806: 140477806
33 BRAF NM_004333.5(BRAF): c.1502A> G (p.Glu501Gly) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh38 Chromosome 7, 140778006: 140778006
34 BRAF NM_004333.5(BRAF): c.1741A> G (p.Asn581Asp) single nucleotide variant Pathogenic rs180177040 GRCh37 Chromosome 7, 140453987: 140453987
35 BRAF NM_004333.5(BRAF): c.1741A> G (p.Asn581Asp) single nucleotide variant Pathogenic rs180177040 GRCh38 Chromosome 7, 140754187: 140754187
36 BRAF NM_004333.5(BRAF): c.1600G> C (p.Gly534Arg) single nucleotide variant Pathogenic/Likely pathogenic rs180177041 GRCh37 Chromosome 7, 140476806: 140476806
37 BRAF NM_004333.5(BRAF): c.1600G> C (p.Gly534Arg) single nucleotide variant Pathogenic/Likely pathogenic rs180177041 GRCh38 Chromosome 7, 140777006: 140777006
38 BRAF NM_004333.5(BRAF): c.1914T> A (p.Asp638Glu) single nucleotide variant Pathogenic/Likely pathogenic rs180177042 GRCh37 Chromosome 7, 140449165: 140449165
39 BRAF NM_004333.5(BRAF): c.1914T> A (p.Asp638Glu) single nucleotide variant Pathogenic/Likely pathogenic rs180177042 GRCh38 Chromosome 7, 140749365: 140749365
40 BRAF NM_004333.5(BRAF): c.722C> T (p.Thr241Met) single nucleotide variant Pathogenic/Likely pathogenic rs387906660 GRCh37 Chromosome 7, 140501350: 140501350
41 BRAF NM_004333.5(BRAF): c.722C> T (p.Thr241Met) single nucleotide variant Pathogenic/Likely pathogenic rs387906660 GRCh38 Chromosome 7, 140801550: 140801550
42 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh37 Chromosome 7, 140501351: 140501351
43 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh38 Chromosome 7, 140801551: 140801551
44 BRAF NM_004333.5(BRAF): c.36G> A (p.Ala12=) single nucleotide variant Benign rs397507454 GRCh37 Chromosome 7, 140624468: 140624468
45 BRAF NM_004333.5(BRAF): c.36G> A (p.Ala12=) single nucleotide variant Benign rs397507454 GRCh38 Chromosome 7, 140924668: 140924668
46 BRAF NM_004333.5(BRAF): c.78G> T (p.Glu26Asp) single nucleotide variant Benign/Likely benign rs371877084 GRCh37 Chromosome 7, 140624426: 140624426
47 BRAF NM_004333.5(BRAF): c.78G> T (p.Glu26Asp) single nucleotide variant Benign/Likely benign rs371877084 GRCh38 Chromosome 7, 140924626: 140924626
48 BRAF NM_004333.5(BRAF): c.730A> C (p.Thr244Pro) single nucleotide variant Pathogenic rs397507465 GRCh37 Chromosome 7, 140501342: 140501342
49 BRAF NM_004333.5(BRAF): c.730A> C (p.Thr244Pro) single nucleotide variant Pathogenic rs397507465 GRCh38 Chromosome 7, 140801542: 140801542
50 BRAF NM_004333.4(BRAF): c.735A> C (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh37 Chromosome 7, 140501337: 140501337

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:

38
# 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 186)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.1 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
2
Show member pathways
13.93 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
3
Show member pathways
13.91 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
13.63 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
8
Show member pathways
13.62 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
9
Show member pathways
13.5 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
10
Show member pathways
13.47 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
11
Show member pathways
13.35 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
12
Show member pathways
13.34 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
13
Show member pathways
13.17 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
14
Show member pathways
13.15 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 SOS1
15
Show member pathways
13.15 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
16
Show member pathways
13.14 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
17
Show member pathways
13.11 HRAS KRAS MAP2K1 MAP2K2 SOS1
18
Show member pathways
13.07 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 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
13.01 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
27
Show member pathways
13.01 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
12.96 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
31
Show member pathways
12.93 BRAF HRAS KRAS MAP2K1 MAP2K2
32
Show member pathways
12.93 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
33
Show member pathways
12.92 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
34
Show member pathways
12.86 BRAF HRAS KRAS MAP2K1 MAP2K2
35
Show member pathways
12.85 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
36
Show member pathways
12.83 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 SOS1
37
Show member pathways
12.83 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
38
Show member pathways
12.83 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
39 12.82 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
40 12.8 BRAF HRAS KRAS MAP2K1 MAP2K2 SOS1
41
Show member pathways
12.79 BRAF KRAS MAP2K1 MAP2K2 SOS1
42
Show member pathways
12.77 HRAS KRAS PTPN11 SOS1
43
Show member pathways
12.76 HRAS MAP2K1 MAP2K2 MAP2K7 SOS1
44
Show member pathways
12.76 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
45
Show member pathways
12.74 HRAS MAP2K1 MAP2K2 MAP2K7 SOS1
46
Show member pathways
12.74 HRAS MAP2K1 MAP2K2 PTPN11 RASA1 SOS1
47
Show member pathways
12.73 HRAS KRAS PTPN11 RASA1 SOS1
48
Show member pathways
12.72 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 PTPN11
49
Show member pathways
12.72 HRAS KRAS MAP2K1 MAP2K2 MAP2K7 PTPN11
50
Show member pathways
12.71 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7

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 cytosol GO:0005829 9.7 BRAF KRAS MAP2K1 MAP2K2 MAP2K7 NF1
2 cytoplasm GO:0005737 9.44 BRAF HRAS JAKMIP1 KRAS MAP2K1 MAP2K2

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.94 BRAF HRAS KRAS MAP2K1
2 positive regulation of GTPase activity GO:0043547 9.91 HRAS NF1 RASA1 SOS1
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.84 BRAF HRAS MAP2K1 PTPN11
4 activation of protein kinase activity GO:0032147 9.78 MAP2K1 MAP2K2 MAP2K7
5 ephrin receptor signaling pathway GO:0048013 9.76 HRAS PTPN11 RASA1
6 peptidyl-tyrosine phosphorylation GO:0018108 9.76 BRAF MAP2K1 MAP2K2 MAP2K7
7 signal transduction by protein phosphorylation GO:0023014 9.7 MAP2K1 MAP2K2 MAP2K7
8 stress-activated protein kinase signaling cascade GO:0031098 9.69 MAP2K1 MAP2K2 MAP2K7
9 negative regulation of neuron apoptotic process GO:0043524 9.67 BRAF HRAS KRAS RASA1
10 negative regulation of Ras protein signal transduction GO:0046580 9.65 NF1 RASA1
11 thyroid gland development GO:0030878 9.65 BRAF MAP2K1
12 cellular senescence GO:0090398 9.65 HRAS MAP2K1
13 visual learning GO:0008542 9.65 BRAF KRAS NF1
14 negative regulation of cell-matrix adhesion GO:0001953 9.64 NF1 RASA1
15 neurotrophin TRK receptor signaling pathway GO:0048011 9.63 PTPN11 SOS1
16 positive regulation of Ras protein signal transduction GO:0046579 9.63 HRAS SHOC2
17 face development GO:0060324 9.62 BRAF MAP2K1
18 regulation of synaptic transmission, GABAergic GO:0032228 9.62 KRAS NF1
19 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.6 MAP2K1 MAP2K2
20 regulation of stress-activated MAPK cascade GO:0032872 9.59 MAP2K1 MAP2K2
21 Bergmann glial cell differentiation GO:0060020 9.58 MAP2K1 PTPN11
22 regulation of axon regeneration GO:0048679 9.57 BRAF MAP2K1
23 regulation of early endosome to late endosome transport GO:2000641 9.56 MAP2K1 MAP2K2
24 activation of MAPK activity GO:0000187 9.56 MAP2K1 MAP2K2 MAP2K7 PTPN11
25 response to isolation stress GO:0035900 9.55 HRAS KRAS
26 regulation of Golgi inheritance GO:0090170 9.49 MAP2K1 MAP2K2
27 cerebellar cortex formation GO:0021697 9.43 MAP2K1 PTPN11
28 Ras protein signal transduction GO:0007265 9.35 HRAS KRAS NF1 SHOC2 SOS1
29 regulation of long-term neuronal synaptic plasticity GO:0048169 9.33 HRAS KRAS NF1
30 forebrain astrocyte development GO:0021897 9.32 KRAS NF1
31 MAPK cascade GO:0000165 9.23 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
32 signal transduction GO:0007165 10.01 BRAF HRAS KRAS MAP2K1 MAP2K7 NF1

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 9.62 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 10.07 BRAF HRAS JAKMIP1 KRAS MAP2K1 MAP2K2

Sources for Cardiofaciocutaneous Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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38 KEGG
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45 MeSH
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59 OMIM via Orphanet
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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