CFC1
MCID: CRD224
MIFTS: 70

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 56 12 73 29 6
Cardiofaciocutaneous Syndrome 56 12 74 24 52 25 58 36 13 15
Cfc Syndrome 56 12 24 52 25 58 73 54
Cardio-Facio-Cutaneous Syndrome 52 25 73 29 6
Cfc1 56 12 73
Cfcs 56 73
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities and Growth Failure 52
Cardiofaciocutaneous Syndrome, Type 1 39
Cardio-Facial-Cutaneous Syndrome 12

Characteristics:

Orphanet epidemiological data:

58
cardiofaciocutaneous syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

56
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:

31
cardiofaciocutaneous syndrome 1:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


GeneReviews:

24
Penetrance Penetrance is complete in cfc syndrome.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Rare cardiac malformations
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Cardiofaciocutaneous Syndrome 1

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. Heart defects occur in most people with cardiofaciocutaneous syndrome. The heart problems most commonly associated with this condition include malformations of one of the heart valves that impairs blood flow from the heart to the lungs (pulmonic stenosis), a hole between the two upper chambers of the heart (atrial septal defect), and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. These include a high forehead that narrows at the temples, a short nose, widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point downward (down-slanting palpebral fissures), droopy eyelids (ptosis), a small chin, and low-set ears. Overall, the face is broad and long, and the facial features are sometimes described as "coarse." Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. Many affected people have dry, rough skin; dark-colored moles (nevi); wrinkled palms and soles; and a skin condition called keratosis pilaris, which causes small bumps to form on the arms, legs, and face. People with cardiofaciocutaneous syndrome also tend to have thin, dry, curly hair and sparse or absent eyelashes and eyebrows. Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive). Additional features of this disorder in children and adults can include an unusually large head (macrocephaly), short stature, problems with vision, and seizures. The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart, particularly in infancy. Unlike Costello syndrome, which significantly increases a person's cancer risk, cancer does not appear to be a major feature of cardiofaciocutaneous syndrome.

MalaCards based summary : Cardiofaciocutaneous Syndrome 1, also known as cardiofaciocutaneous syndrome, is related to costello syndrome and heart septal defect. 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 Signaling by GPCR. The drugs Fluticasone and Sympathomimetics have been mentioned in the context of this disorder. 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.

NIH Rare Diseases : 52 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 g ene. 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.

OMIM : 56 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)

KEGG : 36 Cardio-facio-cutaneous (CFC) syndrome is a congenital disorder characterized by short stature, a characteristic face, cardiac defects, developmental delay and mental retardation. Affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial characteristics include high forehead, down-slanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears. CFC can be caused by mutations in BRAF, KRAS, MEK1, and MEK2, encoding components of the RAS-MAPK pathway.

UniProtKB/Swiss-Prot : 73 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 : 74 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 308)
# Related Disease Score Top Affiliating Genes
1 costello syndrome 32.9 SOS1 SHOC2 PTPN11 NF1 MAP2K2 MAP2K1
2 heart septal defect 32.5 SOS1 SHOC2 PTPN11
3 atrial heart septal defect 32.2 SOS1 SHOC2 PTPN11 LZTR1 HRAS
4 pulmonary valve stenosis 32.0 SOS2 SOS1 SHOC2 PTPN11 MAP2K2 MAP2K1
5 tetralogy of fallot 31.9 SOS1 PTPN11 LZTR1 HRAS
6 leopard syndrome 31.6 SPRED1 SOS2 SOS1 SHOC2 RASA2 RASA1
7 pulmonary valve disease 31.6 SOS2 SOS1 SHOC2 RASA2 PTPN11 MAP2K2
8 lentigines 31.2 RAF1 PTPN11 BRAF
9 embryonal rhabdomyosarcoma 31.1 SOS1 PTPN11 HRAS
10 myelodysplastic/myeloproliferative neoplasm 31.0 SHOC2 PTPN11 NF1 HRAS
11 cryptorchidism, unilateral or bilateral 31.0 SOS1 SHOC2 PTPN11 HRAS
12 legius syndrome 30.8 SPRY1 SPRED1 PTPN11 NF1
13 noonan syndrome 3 30.8 SOS1 SHOC2 RAF1 PTPN11 KRAS HRAS
14 neuroblastoma 30.7 SOS1 PTPN11 NF1 MAP2K7 MAP2K1 HRAS
15 myeloid leukemia 30.6 RAF1 PTPN11 MAP2K1 KRAS HRAS
16 hypertelorism 30.5 RAF1 PTPN11 LZTR1 BRAF
17 leukemia, chronic myeloid 30.3 RASA1 RAF1 PTPN11 NF1 MAP2K7 KRAS
18 leukemia, acute myeloid 30.2 PTPN11 NF1 MAP2K7 MAP2K1 KRAS HRAS
19 pulmonic stenosis 30.2 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
20 leukemia 30.1 SOS1 RAF1 PTPN11 NF1 KRAS HRAS
21 hypertrophic cardiomyopathy 30.1 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
22 neurofibromatosis, type iv, of riccardi 30.0 SPRED1 RASA2 RASA1 PTPN11 NF1 LZTR1
23 noonan syndrome 1 29.7 SOS2 SOS1 SHOC2 RRAS RASA2 RAF1
24 rasopathy 29.5 SPRED1 SOS1 SHOC2 RRAS RAF1 PTPN11
25 heterotaxy, visceral, 2, autosomal 11.8
26 heterotaxy 11.8
27 visceral heterotaxy 11.7
28 heart disease 11.7
29 double outlet right ventricle 11.6
30 biliary atresia 11.6
31 dextro-looped transposition of the great arteries 11.4
32 conotruncal heart malformations 11.3
33 cardiofaciocutaneous syndrome 2 11.3
34 cardiofaciocutaneous syndrome 4 11.2
35 cardiofaciocutaneous syndrome 3 11.2
36 woolly hair, autosomal dominant 11.2
37 hypotrichosis 8 11.2
38 pectus carinatum 11.2
39 alagille syndrome 1 11.1
40 holt-oram syndrome 11.1
41 right atrial isomerism 11.1
42 bile duct cysts 11.1
43 ohdo syndrome, sbbys variant 11.1
44 atrioventricular septal defect 11.1
45 patent ductus arteriosus 1 11.1
46 kartagener syndrome 11.1
47 primary ciliary dyskinesia 11.1
48 hypoplastic left heart syndrome 11.1
49 biliary atresia with splenic malformation syndrome 11.1
50 isolated congenitally uncorrected transposition of the great arteries 11.1

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:

58 31 (show top 50) (show all 123)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
7 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
8 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
9 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
10 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
11 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
12 abnormal heart valve morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001654
13 failure to thrive in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001531
14 atrial septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001631
15 long face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000276
16 fine hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002213
17 pulmonic stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001642
18 long palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000637
19 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
20 thickened helices 58 31 hallmark (90%) Very frequent (99-80%) HP:0000391
21 underdeveloped supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0009891
22 excessive wrinkled skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0007392
23 brittle hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002299
24 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
25 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
26 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
27 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
28 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
29 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
30 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
31 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
32 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
33 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
34 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
35 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
36 abnormality of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0002997
37 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
38 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
39 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
40 ichthyosis 58 31 frequent (33%) Frequent (79-30%) HP:0008064
41 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
42 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
43 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
44 cavernous hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0001048
45 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
46 webbed neck 58 31 frequent (33%) Frequent (79-30%) HP:0000465
47 low posterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0002162
48 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
49 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
50 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ptosis
nystagmus
strabismus
myopia
more
Chest External Features:
pectus excavatum
pectus carinatum

Neurologic Central Nervous System:
seizures
hydrocephalus
hypertonia
hypotonia
mild to moderate mental retardation
more
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
vomiting
poor feeding
dysmotility

Head And Neck Face:
coarse facial features
micrognathia
prominent forehead
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
keratosis pilaris
more
Cardiovascular Heart:
hypertrophic cardiomyopathy
pulmonic stenosis
atrial septal defects

Head And Neck Head:
dolichocephaly
macrocephaly, relative

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

Growth Other:
failure to thrive

Skeletal:
osteopenia
delayed bone age
joint hyperextensibility

Abdomen Spleen:
splenomegaly

Head And Neck Teeth:
open bite
malocclusion
posterior crossbite

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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:

26 (show all 40)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.34 HRAS KRAS
2 Decreased viability GR00106-A-0 10.34 KRAS
3 Decreased viability GR00221-A-1 10.34 HRAS KRAS MAP2K7 NF1 RAF1
4 Decreased viability GR00221-A-2 10.34 HRAS KRAS NF1 RAF1
5 Decreased viability GR00221-A-3 10.34 HRAS
6 Decreased viability GR00221-A-4 10.34 NF1
7 Decreased viability GR00231-A 10.34 RAF1
8 Decreased viability GR00301-A 10.34 KRAS RAF1
9 Decreased viability GR00342-S-1 10.34 MAP2K7
10 Decreased viability GR00381-A-1 10.34 KRAS
11 Decreased viability GR00402-S-2 10.34 HRAS KRAS MAP2K7 NF1 RAF1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.15 SOS1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.15 BRAF
14 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.15 PTPN11
15 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.15 SOS1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.15 PTPN11
17 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.15 SOS1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.15 PTPN11
19 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.15 BRAF NF1 PTPN11 RAF1 SOS1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.15 RAF1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.15 RAF1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.15 BRAF
23 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.15 BRAF
24 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.15 PTPN11
25 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.15 PTPN11
26 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.15 BRAF
27 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.15 BRAF
28 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.15 BRAF
29 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.15 BRAF
30 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.15 PTPN11
31 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.15 NF1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.15 BRAF PTPN11
33 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.15 RAF1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.15 PTPN11
35 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.15 NF1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.15 PTPN11
37 Increased shRNA abundance (Z-score > 2) GR00366-A-97 10.15 NF1
38 Decreased cell migration GR00055-A-1 9.87 BRAF HRAS KRAS MAP2K2 NF1 SOS1
39 Increased cell migration GR00055-A-3 9.55 BRAF HRAS KRAS NF1 SOS1
40 Reduced mammosphere formation GR00396-S 9.23 BRAF HRAS KRAS PTPN11 SHOC2 SOS1

MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome 1:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.42 BRAF ETFDH HRAS KRAS LZTR1 MAP2K1
2 craniofacial MP:0005382 10.34 BRAF HRAS KRAS LZTR1 MAP2K1 MAP2K2
3 growth/size/body region MP:0005378 10.32 BRAF HRAS KRAS LZTR1 MAP2K1 MAP2K2
4 cellular MP:0005384 10.31 BRAF KRAS LZTR1 MAP2K1 MAP2K2 MAP2K7
5 mortality/aging MP:0010768 10.31 BRAF ETFDH HRAS KRAS LZTR1 MAP2K1
6 homeostasis/metabolism MP:0005376 10.29 BRAF HRAS KRAS LZTR1 MAP2K1 MAP2K2
7 endocrine/exocrine gland MP:0005379 10.26 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
8 digestive/alimentary MP:0005381 10.2 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
9 integument MP:0010771 10.2 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
10 embryo MP:0005380 10.19 BRAF KRAS MAP2K1 NF1 PTPN11 RAF1
11 neoplasm MP:0002006 10.11 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
12 hearing/vestibular/ear MP:0005377 10.1 BRAF KRAS MAP2K1 MAP2K2 NF1 PTPN11
13 nervous system MP:0003631 10.06 BRAF HRAS KRAS MAP2K1 MAP2K7 NF1
14 normal MP:0002873 10.03 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP2K7
15 muscle MP:0005369 10.01 BRAF KRAS LZTR1 NF1 PTPN11 RAF1
16 respiratory system MP:0005388 9.76 BRAF HRAS KRAS NF1 PTPN11 RAF1
17 skeleton MP:0005390 9.7 BRAF HRAS KRAS LZTR1 MAP2K1 MAP2K2
18 vision/eye MP:0005391 9.36 BRAF ETFDH KRAS MAP2K1 MAP2K2 MAP2K7

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome 1

Drugs for Cardiofaciocutaneous Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
2 Sympathomimetics Phase 4
3 Anti-Asthmatic Agents Phase 4
4 Neurotransmitter Agents Phase 4
5 Methacholine Chloride Phase 4
6
Salmeterol xinafoate Phase 4 94749-08-3 56801
7 Adrenergic beta-Agonists Phase 4
8 Hormone Antagonists Phase 4
9 Dermatologic Agents Phase 4
10 Anti-Inflammatory Agents Phase 4
11 Respiratory System Agents Phase 4
12 Autonomic Agents Phase 4
13 Adrenergic Agonists Phase 4
14 Fluticasone-Salmeterol Drug Combination Phase 4
15 Bronchodilator Agents Phase 4
16 glucocorticoids Phase 4
17 Adrenergic Agents Phase 4
18 Anti-Allergic Agents Phase 4
19 Hormones Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind, Cross-Over Study to Demonstrate Superiority of Fluticasone/Salmeterol Over Double the Dose of Fluticasone on Methacholine Hyper-Reactivity in Patients With Persistent, Mild to Moderate Asthma Completed NCT00830505 Phase 4 fluticasone/salmeterol;fluticasone
2 Effects of Physical Training on Bone and Muscle Quality, Muscle Strength, and Motor Coordination in Children With Neurofibromatosis Type 1 Completed NCT01058330
3 Evaluation of Communication Functions in Children With Cerebral Palsy Recruiting NCT04149561
4 Reliability and Construct Validity of the Turkish Version of the Drooling Impact Scale Among Children With Cerebral Palsy Recruiting NCT04132765
5 The Investigation of Necessity, Participation to Life of Children With Cerebral Palsy and Their Families Recruiting NCT03191695
6 The Effect of a Monetary Incentive Program and Episodic Future Thinking on Weight-Loss Recruiting NCT03731325
7 Investigating the Relation Between Environmental Factors and Activity-participation in Children With Cerebral Palsy Not yet recruiting NCT03640611
8 Feasibility of Identifying the Chinese Community Intervention Program (CIP) Population and Eligible Incident Pediatric Cancer Cases, and Linking the Cases to the Population to Assess the Role of Periconceptional Folic Acid Supplements in Risk of Pediatric Cancer (Pilot #N3) Withdrawn NCT02160795

Search 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:

40
Heart, Skin, Lung, Eye, Thyroid, Bone, Brain

Publications for Cardiofaciocutaneous Syndrome 1

Articles related to Cardiofaciocutaneous Syndrome 1:

(show top 50) (show all 178)
# Title Authors PMID Year
1
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 54 24 56 6
19206169 2009
2
Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. 24 56 6
16804887 2006
3
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 24 56 6
16439621 2006
4
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 24 56 6
16474404 2006
5
Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. 61 56 6
21178588 2011
6
Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations. 54 24 6
20358587 2010
7
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 56 6
18042262 2008
8
The cardiofaciocutaneous syndrome. 61 24 56
16825433 2006
9
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. 56 6
16372351 2006
10
CFC syndrome: a syndrome distinct from Noonan syndrome. 56 6
3265306 1988
11
Two novel germline KRAS mutations: expanding the molecular and clinical phenotype. 24 6
21797849 2012
12
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 24 6
17056636 2007
13
Germline KRAS mutations cause Noonan syndrome. 24 6
16474405 2006
14
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. 54 61 56
12384786 2002
15
New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. 24 56
3789005 1986
16
A Noonan-like short stature syndrome with sparse hair. 24 56
3712393 1986
17
Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors. 54 56
19376813 2009
18
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. 54 56
17551924 2007
19
Cardiofaciocutaneous Syndrome 61 6
20301365 2007
20
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 54 56
12634870 2003
21
CFC index for the diagnosis of cardiofaciocutaneous syndrome. 61 56
12239713 2002
22
Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. 61 56
10528867 1999
23
Cardiofaciocutaneous syndrome with new ectodermal manifestations. 61 56
1619641 1992
24
New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome. 56
25035421 2014
25
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). 6
25173338 2014
26
Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis. 56
22946697 2013
27
Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes. 6
23059812 2013
28
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. 61 24
20523244 2011
29
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. 61 24
21062266 2011
30
No reason yet to change diagnostic criteria for Noonan, Costello and cardio-facio-cutaneous syndromes. 56
19047498 2008
31
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. 56
18456719 2008
32
The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. 6
18386799 2008
33
Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations. 56
18039946 2008
34
Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. 6
17981815 2008
35
Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene. 54 24
17483702 2007
36
Guilty as charged: B-RAF is a human oncogene. 56
15488754 2004
37
CFC syndrome. 56
12522802 2003
38
Cardio-facio-cutaneous syndrome phenotype and del(12q). 56
12522803 2003
39
Editor's note: regarding correspondence on CFC syndrome and interstitial 12q deletions. 56
12522804 2003
40
Cardio-facio-cutaneous syndrome: first presentation in a 52-year-old woman. 56
12494447 2003
41
Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome? 56
12116271 2002
42
Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype. 56
11078563 2000
43
Partial deletion of chromosome 12q is not usually associated with CFC syndrome. 56
11102944 2000
44
Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome. 56
10925386 2000
45
Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family. 56
9781012 1998
46
Cardio-facio-cutaneous (CFC) syndrome--a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome. 56
9272711 1997
47
CFC syndrome: report of familial cases. 56
9147900 1996
48
Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation. 56
8725790 1996
49
Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome. 56
8867661 1996
50
The cardio-facio-cutaneous (CFC) syndrome--two possible new cases and review of the literature. 56
8867662 1996

Variations for Cardiofaciocutaneous Syndrome 1

ClinVar genetic disease variations for Cardiofaciocutaneous Syndrome 1:

6 (show top 50) (show all 236) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRAF NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu)SNV Pathogenic 177672 rs121913341 7:140453150-140453150 7:140753350-140753350
2 BRAF NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu)SNV Pathogenic 162797 rs180177042 7:140449165-140449165 7:140749365-140749365
3 KRAS NM_033360.4(KRAS):c.179G>T (p.Gly60Val)SNV Pathogenic 163766 rs727503108 12:25380279-25380279 12:25227345-25227345
4 MAP2K2 NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys)SNV Pathogenic 177868 rs727504370 19:4110556-4110556 19:4110558-4110558
5 KRAS NM_033360.4(KRAS):c.*20T>ASNV Pathogenic 163758 rs397517042 12:25362830-25362830 12:25209896-25209896
6 MAP2K2 NM_030662.3(MAP2K2):c.170T>G (p.Phe57Cys)SNV Pathogenic 8272 rs121434497 19:4117550-4117550 19:4117552-4117552
7 MAP2K2 NM_030662.3(MAP2K2):c.169T>G (p.Phe57Val)SNV Pathogenic 8273 rs121434498 19:4117551-4117551 19:4117553-4117553
8 MAP2K2 NM_030662.3(MAP2K2):c.383C>A (p.Pro128Gln)SNV Pathogenic 8275 rs267607230 19:4110574-4110574 19:4110576-4110576
9 KRAS NM_033360.4(KRAS):c.178G>C (p.Gly60Arg)SNV Pathogenic 12586 rs104894359 12:25380280-25380280 12:25227346-25227346
10 KRAS NM_033360.4(KRAS):c.*12A>TSNV Pathogenic 12587 rs104894360 12:25362838-25362838 12:25209904-25209904
11 KRAS NM_033360.4(KRAS):c.40G>A (p.Val14Ile)SNV Pathogenic 12589 rs104894365 12:25398279-25398279 12:25245345-25245345
12 MAP2K1 NM_002755.3(MAP2K1):c.158T>C (p.Phe53Ser)SNV Pathogenic 13350 rs121908594 15:66727442-66727442 15:66435104-66435104
13 MAP2K1 NM_002755.3(MAP2K1):c.389A>G (p.Tyr130Cys)SNV Pathogenic 13351 rs121908595 15:66729181-66729181 15:66436843-66436843
14 BRAF NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)SNV Pathogenic 13961 rs113488022 7:140453136-140453136 7:140753336-140753336
15 BRAF NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)SNV Pathogenic 13965 rs180177034 7:140501336-140501336 7:140801536-140801536
16 BRAF NM_004333.6(BRAF):c.730A>C (p.Thr244Pro)SNV Pathogenic 40346 rs397507465 7:140501342-140501342 7:140801542-140801542
17 BRAF NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)SNV Pathogenic 40347 rs397507466 7:140501337-140501337 7:140801537-140801537
18 BRAF NM_004333.6(BRAF):c.735A>T (p.Leu245Phe)SNV Pathogenic 40348 rs397507466 7:140501337-140501337 7:140801537-140801537
19 BRAF NM_004333.6(BRAF):c.1403T>C (p.Phe468Ser)SNV Pathogenic 40366 rs397507473 7:140481405-140481405 7:140781605-140781605
20 BRAF NM_004333.6(BRAF):c.1497A>T (p.Lys499Asn)SNV Pathogenic 40372 7:140477811-140477811 7:140778011-140778011
21 BRAF NM_004333.6(BRAF):c.1722C>G (p.His574Gln)SNV Pathogenic 40384 rs397507481 7:140454006-140454006 7:140754206-140754206
22 BRAF NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)SNV Pathogenic 40387 rs397507483 7:140453148-140453148 7:140753348-140753348
23 MAP2K1 NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn)SNV Pathogenic 40781 rs727504317 15:66727483-66727483 15:66435145-66435145
24 BRAF NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln)SNV Pathogenic 41446 rs121913364 7:140453134-140453134 7:140753334-140753334
25 BRAF NM_004333.6(BRAF):c.1720C>T (p.His574Tyr)SNV Pathogenic 44810 rs397516894 7:140454008-140454008 7:140754208-140754208
26 BRAF NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)SNV Pathogenic 13979 rs180177040 7:140453987-140453987 7:140754187-140754187
27 BRAF NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)SNV Pathogenic 13975 rs180177036 7:140477853-140477853 7:140778053-140778053
28 BRAF NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)SNV Pathogenic 13974 rs121913355 7:140481402-140481402 7:140781602-140781602
29 BRAF NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)SNV Pathogenic 13973 rs180177035 7:140501302-140501302 7:140801502-140801502
30 BRAF NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)SNV Pathogenic 13969 rs121913369 7:140453146-140453146 7:140753346-140753346
31 BRAF NM_004333.6(BRAF):c.1399T>G (p.Ser467Ala)SNV Pathogenic 223138 rs869025606 7:140481409-140481409 7:140781609-140781609
32 BRAF NM_004333.6(BRAF):c.1408_1410del (p.Thr470del)deletion Pathogenic 223139 rs869025607 7:140481398-140481400 7:140781598-140781600
33 BRAF NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg)SNV Pathogenic 280033 rs121913375 7:140453139-140453139 7:140753339-140753339
34 BRAF NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg)SNV Pathogenic 372572 rs121913349 7:140481418-140481418 7:140781618-140781618
35 MAP2K2 NM_030662.3(MAP2K2):c.376A>G (p.Asn126Asp)SNV Pathogenic 376176 rs1057519806 19:4110581-4110581 19:4110583-4110583
36 BRAF NM_004333.6(BRAF):c.1798G>C (p.Val600Leu)SNV Pathogenic 376289 rs121913378 7:140453137-140453137 7:140753337-140753337
37 BRAF NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu)SNV Pathogenic/Likely pathogenic 375944 rs121913337 7:140453153-140453153 7:140753353-140753353
38 BRAF NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)SNV Pathogenic/Likely pathogenic 13981 rs180177042 7:140449165-140449165 7:140749365-140749365
39 BRAF NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)SNV Pathogenic/Likely pathogenic 13980 rs180177041 7:140476806-140476806 7:140777006-140777006
40 BRAF NM_004333.6(BRAF):c.785A>C (p.Gln262Pro)SNV Pathogenic/Likely pathogenic 44831 rs397516904 7:140501287-140501287 7:140801487-140801487
41 MAP2K1 NM_002755.3(MAP2K1):c.171G>T (p.Lys57Asn)SNV Pathogenic/Likely pathogenic 223140 rs869025608 15:66727455-66727455 15:66435117-66435117
42 BRAF NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)SNV Pathogenic/Likely pathogenic 13978 rs180177039 7:140477806-140477806 7:140778006-140778006
43 BRAF NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)SNV Pathogenic/Likely pathogenic 13977 rs180177038 7:140477807-140477807 7:140778007-140778007
44 BRAF NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu)SNV Pathogenic/Likely pathogenic 13976 rs180177037 7:140477813-140477813 7:140778013-140778013
45 BRAF NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)SNV Pathogenic/Likely pathogenic 44811 rs397516895 7:140453192-140453192 7:140753392-140753392
46 BRAF NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr)SNV Pathogenic/Likely pathogenic 44818 rs397507484 7:140453133-140453133 7:140753333-140753333
47 BRAF NM_004333.6(BRAF):c.1460T>G (p.Val487Gly)SNV Pathogenic/Likely pathogenic 44806 rs397516893 7:140477848-140477848 7:140778048-140778048
48 MAP2K2 NM_030662.3(MAP2K2):c.181A>G (p.Lys61Glu)SNV Pathogenic/Likely pathogenic 40769 rs730880517 19:4117539-4117539 19:4117541-4117541
49 MAP2K1 NM_002755.3(MAP2K1):c.371C>T (p.Pro124Leu)SNV Pathogenic/Likely pathogenic 40744 rs397516792 15:66729163-66729163 15:66436825-66436825
50 BRAF NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)SNV Pathogenic/Likely pathogenic 40370 rs397507475 7:140477854-140477854 7:140778054-140778054

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

73 (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

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:

36
# 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 207)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.36 SPRY1 SPRED1 SOS2 SOS1 RASA2 RASA1
2
Show member pathways
14.22 SPRED1 SOS1 RASA2 RASA1 RAF1 PTPN11
3
Show member pathways
14.05 SOS2 SOS1 RRAS RASA1 RAF1 NF1
4
Show member pathways
14.01 SOS2 SOS1 RRAS RAF1 MAP2K7 MAP2K2
5
Show member pathways
13.94 SOS1 RASA2 RASA1 RAF1 PTPN11 NF1
6
Show member pathways
13.89 SOS2 SOS1 RRAS RAF1 MAP2K7 MAP2K2
7
Show member pathways
13.86 SOS2 SOS1 RRAS RAF1 MAP2K7 MAP2K2
8
Show member pathways
13.77 SOS2 SOS1 RRAS RAF1 PTPN11 MAP2K7
9
Show member pathways
13.74 SPRED1 SOS2 SOS1 RRAS RASA2 RASA1
10
Show member pathways
13.73 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
11
Show member pathways
13.65 SOS2 SOS1 RRAS RASA2 RAF1 MAP2K7
12
Show member pathways
13.62 SPRED1 SOS1 RASA2 RASA1 RAF1 PTPN11
13
Show member pathways
13.51 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
14
Show member pathways
13.51 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
15
Show member pathways
13.47 SOS2 SOS1 RRAS RASA2 RASA1 RAF1
16
Show member pathways
13.37 SOS2 SOS1 RAF1 MAP2K7 MAP2K2 MAP2K1
17
Show member pathways
13.33 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
18
Show member pathways
13.3 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
19
Show member pathways
13.29 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
20
Show member pathways
13.26 SOS2 SOS1 RRAS RASA1 RAF1 MAP2K7
21
Show member pathways
13.2 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
22
Show member pathways
13.2 SOS2 SOS1 RRAS RASA1 RAF1 MAP2K7
23
Show member pathways
13.19 SOS2 SOS1 RAF1 MAP2K7 MAP2K2 MAP2K1
24
Show member pathways
13.19 SOS2 SOS1 RAF1 MAP2K7 MAP2K2 MAP2K1
25
Show member pathways
13.18 RRAS RAF1 MAP2K7 MAP2K2 MAP2K1 KRAS
26
Show member pathways
13.18 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
27
Show member pathways
13.18 SOS2 SOS1 RRAS RAF1 MAP2K7 MAP2K2
28
Show member pathways
13.15 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
29
Show member pathways
13.14 SOS2 SOS1 RRAS RAF1 MAP2K1 KRAS
30
Show member pathways
13.14 SOS2 SOS1 RRAS RASA1 RAF1 MAP2K7
31
Show member pathways
13.12 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
32 13.11 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
33
Show member pathways
13.1 SOS2 SOS1 RRAS RAF1 MAP2K7 MAP2K2
34
Show member pathways
13.08 RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
35
Show member pathways
13.07 SPRED1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
36
Show member pathways
13.07 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
37
Show member pathways
13.04 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
38
Show member pathways
12.99 SOS2 SOS1 RASA1 RAF1 PTPN11 MAP2K7
39
Show member pathways
12.97 SOS2 SOS1 RAF1 NF1 MAP2K7 MAP2K2
40
Show member pathways
12.96 SOS2 SOS1 RAF1 MAP2K7 MAP2K2 MAP2K1
41
Show member pathways
12.96 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
42
Show member pathways
12.95 RRAS RAF1 MAP2K7 MAP2K2 MAP2K1 KRAS
43
Show member pathways
12.94 RAF1 MAP2K2 MAP2K1 KRAS HRAS
44
Show member pathways
12.94 SOS2 SOS1 RAF1 MAP2K7 MAP2K2 MAP2K1
45
Show member pathways
12.93 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
46 12.92 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
47
Show member pathways
12.9 SOS2 SOS1 RAF1 MAP2K7 MAP2K2 MAP2K1
48
Show member pathways
12.9 SOS2 SOS1 RRAS RAF1 PTPN11 MAP2K7
49
Show member pathways
12.87 SOS2 SOS1 RASA1 RAF1 PTPN11 MAP2K2
50
Show member pathways
12.87 SOS2 SOS1 RASA1 RAF1 PTPN11 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 cytoplasm GO:0005737 9.8 SPRY1 SOS1 SHOC2 RASA2 RASA1 RAF1
2 cytosol GO:0005829 9.53 SPRY1 SPRED1 SOS2 SOS1 SHOC2 RASA2

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.17 SOS1 RRAS RASA2 RASA1 RAF1 NF1
2 negative regulation of cell proliferation GO:0008285 10.04 SPRY1 RAF1 NF1 MAP2K1 HRAS
3 positive regulation of GTPase activity GO:0043547 10 SOS1 RASA2 RASA1 NF1 HRAS
4 heart development GO:0007507 9.92 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
5 negative regulation of neuron apoptotic process GO:0043524 9.89 RASA1 KRAS HRAS BRAF
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.89 PTPN11 MAP2K7 MAP2K1 HRAS BRAF
7 peptidyl-tyrosine phosphorylation GO:0018108 9.88 MAP2K7 MAP2K2 MAP2K1 BRAF
8 activation of protein kinase activity GO:0032147 9.85 MAP2K7 MAP2K2 MAP2K1
9 regulation of Rho protein signal transduction GO:0035023 9.85 SOS2 SOS1 RAF1
10 regulation of GTPase activity GO:0043087 9.84 RASA2 RASA1 NF1
11 ephrin receptor signaling pathway GO:0048013 9.84 RASA1 PTPN11 HRAS
12 activation of MAPK activity GO:0000187 9.84 PTPN11 MAP2K7 MAP2K2 MAP2K1
13 fibroblast growth factor receptor signaling pathway GO:0008543 9.83 SPRED1 SHOC2 PTPN11
14 signal transduction by protein phosphorylation GO:0023014 9.79 MAP2K7 MAP2K2 MAP2K1
15 visual learning GO:0008542 9.78 NF1 KRAS BRAF
16 positive regulation of axonogenesis GO:0050772 9.74 MAP2K2 MAP2K1 BRAF
17 thymus development GO:0048538 9.71 RAF1 MAP2K2 MAP2K1 BRAF
18 regulation of synaptic transmission, GABAergic GO:0032228 9.68 NF1 KRAS
19 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.65 MAP2K2 MAP2K1
20 regulation of stress-activated MAPK cascade GO:0032872 9.65 MAP2K2 MAP2K1
21 regulation of protein heterodimerization activity GO:0043497 9.65 MAP2K2 MAP2K1
22 regulation of long-term neuronal synaptic plasticity GO:0048169 9.65 NF1 KRAS HRAS
23 regulation of early endosome to late endosome transport GO:2000641 9.64 MAP2K2 MAP2K1
24 Bergmann glial cell differentiation GO:0060020 9.63 PTPN11 MAP2K1
25 positive regulation of small GTPase mediated signal transduction GO:0051057 9.63 SOS2 SOS1
26 neurotrophin TRK receptor signaling pathway GO:0048011 9.63 SOS1 RAF1 PTPN11
27 Ras protein signal transduction GO:0007265 9.63 SOS1 SHOC2 RRAS NF1 KRAS HRAS
28 trachea formation GO:0060440 9.62 MAP2K2 MAP2K1
29 response to isolation stress GO:0035900 9.62 KRAS HRAS
30 thyroid gland development GO:0030878 9.62 RAF1 MAP2K2 MAP2K1 BRAF
31 regulation of Golgi inheritance GO:0090170 9.58 MAP2K2 MAP2K1
32 epithelial cell proliferation involved in lung morphogenesis GO:0060502 9.56 MAP2K2 MAP2K1
33 face development GO:0060324 9.56 RAF1 MAP2K2 MAP2K1 BRAF
34 cerebellar cortex formation GO:0021697 9.55 PTPN11 MAP2K1
35 regulation of axon regeneration GO:0048679 9.54 MAP2K2 MAP2K1 BRAF
36 forebrain astrocyte development GO:0021897 9.51 NF1 KRAS
37 MAPK cascade GO:0000165 9.36 SPRED1 SOS1 RASA2 RASA1 RAF1 NF1
38 negative regulation of Ras protein signal transduction GO:0046580 9.35 SPRY1 RASA2 RASA1 NF1 LZTR1

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.8 RAF1 MAP2K7 MAP2K2 MAP2K1 BRAF
2 GTPase activator activity GO:0005096 9.73 SOS1 RASA2 RASA1 NF1
3 protein serine/threonine kinase activity GO:0004674 9.72 RAF1 MAP2K7 MAP2K2 MAP2K1 BRAF
4 protein tyrosine kinase activity GO:0004713 9.56 MAP2K7 MAP2K2 MAP2K1 BRAF
5 GDP binding GO:0019003 9.54 RRAS KRAS HRAS
6 nucleotide binding GO:0000166 9.43 RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
7 Ras GTPase binding GO:0017016 9.33 RAF1 LZTR1 BRAF
8 MAP kinase kinase activity GO:0004708 8.8 MAP2K7 MAP2K2 MAP2K1

Sources for Cardiofaciocutaneous Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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