CFC1
MCID: CRD224
MIFTS: 70

Cardiofaciocutaneous Syndrome 1 (CFC1)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Cardiofaciocutaneous Syndrome 1

MalaCards integrated aliases for Cardiofaciocutaneous Syndrome 1:

Name: Cardiofaciocutaneous Syndrome 1 57 11 73 28 5 14
Cardiofaciocutaneous Syndrome 57 11 24 19 42 58 75 12 43 14
Cfc Syndrome 57 11 24 19 42 58 73 53
Cardio-Facio-Cutaneous Syndrome 19 42 73 28 5
Cfc1 57 11 73
Cfcs 57 73
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities and Growth Failure 19
Cardiofaciocutaneous Syndrome, Type 1 38
Cardio-Facial-Cutaneous Syndrome 11

Characteristics:


Inheritance:

Cardiofaciocutaneous Syndrome 1: Autosomal dominant 57
Cardiofaciocutaneous Syndrome: Autosomal dominant 58

Prevelance:

Cardiofaciocutaneous Syndrome: 1-9/1000000 (Japan) 58

Age Of Onset:

Cardiofaciocutaneous Syndrome: Antenatal,Neonatal 58

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

MedlinePlus Genetics: 42 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 cardiofaciocutaneous syndrome 4 and cardiofaciocutaneous syndrome 3. An important gene associated with Cardiofaciocutaneous Syndrome 1 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are ERK Signaling and Apoptotic Pathways in Synovial Fibroblasts. The drug Zinc oxide has been mentioned in the context of this disorder. Affiliated tissues include heart, skin and bone marrow, and related phenotypes are intellectual disability and hypotonia

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) (Updated 08-Dec-2022)

GARD: 19 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 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 genetic change in the BRAF gene, but can also be due to a genetic change in the MAP2K1, MAP2K2 or KRAS gene. It is an autosomal dominant condition, but most cases are not inherited, due to a new genetic change that occursin the formation of the egg or sperm or shortly after fertilization.

UniProtKB/Swiss-Prot: 73 A multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. 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.

Disease Ontology 11 Cardiofaciocutaneous syndrome 1: A cardiofaciocutaneous syndrome that has material basis in heterozygous mutation in BRAF on chromosome 7q34.

Cardiofaciocutaneous syndrome: A RASopathy 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.

Orphanet: 58 A rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), neurological manifestations (hypotonia, seizures), failure to thrive and intellectual disability.

Wikipedia: 75 Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder, and is one of the... 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 415)
# Related Disease Score Top Affiliating Genes
1 cardiofaciocutaneous syndrome 4 32.4 MAP2K2 CFC1
2 cardiofaciocutaneous syndrome 3 32.3 MAP2K1 CFC1
3 bile duct cysts 31.9 KRAS HRAS CFC1
4 heart septal defect 31.8 SOS1 SHOC2 PTPN11 CFC1
5 osteopetrosis, autosomal recessive 8 31.8 MYBPC3 CFC1
6 costello syndrome 31.7 SPRED1 SOS2 SOS1 SHOC2 RAF1 PTPN11
7 patent ductus arteriosus 1 31.7 SOS1 SHOC2 PTPN11 MYBPC3 CFC1
8 atrial heart septal defect 31.5 SOS2 SOS1 SHOC2 PTPN11 MYBPC3 LZTR1
9 pulmonary valve stenosis 31.4 SPRED1 SOS2 SOS1 SHOC2 PTPN11 MAP2K2
10 pulmonary valve disease 31.4 SPRED1 SOS2 SOS1 SHOC2 PTPN11 MAP2K2
11 noonan syndrome with multiple lentigines 31.3 SPRED1 SOS2 SOS1 SHOC2 RAF1 PTPN11
12 lentigines 30.9 RAF1 PTPN11 BRAF
13 noonan syndrome 1 30.9 SPRED1 SOS2 SOS1 SHOC2 RAF1 PTPN11
14 hydrops fetalis, nonimmune 30.8 PTPN11 KRAS HRAS
15 cystic lymphangioma 30.7 SOS1 SHOC2 PTPN11 LZTR1
16 moyamoya disease 1 30.7 SPRED1 SHOC2 NF1
17 rhabdomyosarcoma 30.7 SOS1 PTPN11 NRAS NF1 MAP2K2 MAP2K1
18 noonan syndrome 7 30.7 SHOC2 BRAF
19 myelodysplastic/myeloproliferative neoplasm 30.7 SOS1 PTPN11 NRAS NF1 HRAS
20 rasopathy 30.7 SPRED1 SOS2 SOS1 SHOC2 RAF1 PTPN11
21 legius syndrome 30.6 SPRED1 NF1 HRAS
22 melanocytic nevus syndrome, congenital 30.5 NRAS HRAS
23 peripheral nervous system disease 30.5 NRAS NF1 MAP2K1 KRAS HRAS
24 keratosis pilaris atrophicans faciei 30.4 SOS1 PTPN11 NF1 MAP2K1
25 arteriovenous malformation 30.4 NF1 MAP2K1 HRAS BRAF
26 noonan syndrome and noonan-related syndrome 30.4 SPRED1 SOS1 SHOC2 RAF1 PTPN11 NRAS
27 noonan syndrome 3 30.4 SOS1 RAF1 PTPN11 KRAS HRAS
28 hemangioma 30.3 MAP2K1 KRAS GNAQ GNA11
29 pulmonic stenosis 30.3 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
30 leukemia, chronic myeloid 30.2 RAF1 PTPN11 NRAS NF1 KRAS HRAS
31 nevus, epidermal 30.2 NRAS NF1 KRAS HRAS GNAQ GNA11
32 neurofibromatosis, type i 30.0 SPRED1 SOS1 RAF1 PTPN11 NRAS NF1
33 juvenile myelomonocytic leukemia 30.0 SPRED1 SOS2 SOS1 SHOC2 RAF1 PTPN11
34 neurofibromatosis 30.0 SPRED1 SOS1 PTPN11 NRAS NF1 LZTR1
35 pseudo-turner syndrome 30.0 SOS2 SOS1 SHOC2 RAF1 PTPN11 NRAS
36 neurofibromatosis-noonan syndrome 29.9 SPRED1 SOS2 SOS1 SHOC2 PTPN11 NF1
37 hypertrophic cardiomyopathy 29.7 SOS2 SOS1 SHOC2 RAF1 PTPN11 NRAS
38 cardiofaciocutaneous syndrome 2 11.2
39 heart disease 11.1
40 visceral heterotaxy 11.1
41 double outlet right ventricle 11.0
42 woolly hair, autosomal dominant 11.0
43 hypotrichosis 8 11.0
44 biliary atresia 11.0
45 meckel syndrome, type 1 11.0
46 heterotaxy, visceral, 2, autosomal 10.9
47 transposition of the great arteries, dextro-looped 10.9
48 total anomalous pulmonary venous return 1 10.8
49 alagille syndrome 1 10.8
50 holt-oram syndrome 10.8

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 30 (show top 50) (show all 131)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001249
2 hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001252
3 coarse facial features 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000280
4 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
5 anteverted nares 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000463
6 short stature 58 30 Very rare (1%) Very frequent (99-80%)
HP:0004322
7 feeding difficulties in infancy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008872
8 full cheeks 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000293
9 abnormal heart valve morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001654
10 palmoplantar keratoderma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000982
11 dry skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000958
12 failure to thrive in infancy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001531
13 atrial septal defect 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001631
14 abnormality of vision 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000504
15 long face 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000276
16 fine hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002213
17 pulmonic stenosis 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001642
18 aplasia/hypoplasia of the eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100840
19 thickened helices 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000391
20 underdeveloped supraorbital ridges 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009891
21 excessive wrinkled skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007392
22 long palpebral fissure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000637
23 brittle hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002299
24 macrocephaly 58 30 Very rare (1%) Frequent (79-30%)
HP:0000256
25 frontal bossing 58 30 Frequent (33%) Frequent (79-30%)
HP:0002007
26 eeg abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0002353
27 scoliosis 58 30 Very rare (1%) Frequent (79-30%)
HP:0002650
28 ptosis 58 30 Very rare (1%) Frequent (79-30%)
HP:0000508
29 nystagmus 58 30 Very rare (1%) Frequent (79-30%)
HP:0000639
30 high palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000218
31 short neck 58 30 Very rare (1%) Frequent (79-30%)
HP:0000470
32 depressed nasal bridge 58 30 Very rare (1%) Frequent (79-30%)
HP:0005280
33 hypertelorism 58 30 Very rare (1%) Frequent (79-30%)
HP:0000316
34 macrotia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000400
35 short nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0003196
36 ichthyosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0008064
37 strabismus 58 30 Very rare (1%) Frequent (79-30%)
HP:0000486
38 biparietal narrowing 58 30 Frequent (33%) Frequent (79-30%)
HP:0004422
39 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
40 webbed neck 58 30 Very rare (1%) Frequent (79-30%)
HP:0000465
41 low posterior hairline 58 30 Very rare (1%) Frequent (79-30%)
HP:0002162
42 epicanthus 58 30 Very rare (1%) Frequent (79-30%)
HP:0000286
43 myopia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000545
44 pectus excavatum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000767
45 downslanted palpebral fissures 58 30 Very rare (1%) Frequent (79-30%)
HP:0000494
46 multiple cafe-au-lait spots 58 30 Frequent (33%) Frequent (79-30%)
HP:0007565
47 low-set, posteriorly rotated ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000368
48 hypoplasia of the zygomatic bone 58 30 Frequent (33%) Frequent (79-30%)
HP:0010669
49 long philtrum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000343
50 high forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0000348

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

Head And Neck Eyes:
ptosis
nystagmus
hypertelorism
strabismus
optic nerve dysplasia
more
Neurologic Central Nervous System:
hypotonia
developmental delay
mental retardation
seizures (in some patients)

Growth Height:
short stature

Head And Neck Face:
prominent forehead
bitemporal narrowing
hypoplastic supraorbital ridges

Head And Neck Head:
dolichocephaly
macrocephaly, relative

Head And Neck Ears:
thickened helices
posteriorly rotated ears
ear pits

Skeletal Feet:
deep plantar creases

Head And Neck Mouth:
high arched palate

Skeletal Spine:
scoliosis

Head And Neck Neck:
short neck
webbed neck

Head And Neck Nose:
depressed nasal bridge
anteverted nares

Skin Nails Hair Skin:
ichthyosis
hyperkeratosis
deep palmar creases

Cardiovascular Heart:
atrial septal defect
hypertrophic cardiomyopathy
ventricular septal defect
pulmonic stenosis

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Hair:
sparse hair
curly hair
sparse eyebrows

Skeletal Hands:
ulnar deviation
deep palmar creases

Laboratory Abnormalities:
elevated homovanillic acid (hva)
elevated vanillylmandelic acid (vma)

Clinical features from OMIM®:

115150 (Updated 08-Dec-2022)

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

25 (show all 40)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.77 HRAS KRAS
2 Decreased viability GR00055-A-2 10.77 HRAS KRAS
3 Decreased viability GR00055-A-3 10.77 KRAS
4 Decreased viability GR00106-A-0 10.77 KRAS
5 Decreased viability GR00221-A-1 10.77 HRAS KRAS MAP3K10 NF1 RAF1 NRAS
6 Decreased viability GR00221-A-2 10.77 HRAS KRAS MAP3K10 NF1 RAF1
7 Decreased viability GR00221-A-3 10.77 HRAS MAP3K10 NRAS
8 Decreased viability GR00221-A-4 10.77 MAP3K10 NF1
9 Decreased viability GR00231-A 10.77 MAP3K10
10 Decreased viability GR00249-S 10.77 NF1
11 Decreased viability GR00301-A 10.77 KRAS RAF1
12 Decreased viability GR00381-A-1 10.77 KRAS
13 Decreased viability GR00386-A-1 10.77 NF1
14 Decreased viability GR00402-S-2 10.77 RAF1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-111 10.2 NF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-112 10.2 NF1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.2 RAF1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.2 SOS1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.2 SOS1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.2 SOS1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.2 BRAF NF1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-150 10.2 RAF1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.2 RAF1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-165 10.2 SOS1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.2 PTPN11
26 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.2 NF1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.2 NF1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.2 BRAF
29 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.2 RAF1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-68 10.2 SOS1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.2 PTPN11
32 Increased shRNA abundance (Z-score > 2) GR00366-A-72 10.2 RAF1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.2 NF1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.2 PTPN11
35 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.2 SOS1
36 no effect GR00402-S-1 10.15 BRAF CFC1 GNA11 GNAQ HRAS KRAS
37 no effect GR00402-S-2 10.15 BRAF GNA11 GNAQ HRAS KRAS MAP2K1
38 Reduced mammosphere formation GR00396-S 9.61 BRAF HRAS KRAS MYBPC3 NRAS PTPN11
39 Increased cell migration GR00055-A-1 9.56 NF1
40 Increased cell migration GR00055-A-3 9.56 NF1

MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome 1:

45 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.49 BRAF GNA11 GNAQ HRAS KRAS MAP2K1
2 growth/size/body region MP:0005378 10.49 BRAF CFC1 GNA11 GNAQ HRAS KRAS
3 normal MP:0002873 10.44 BRAF GNA11 GNAQ HRAS KRAS MAP2K1
4 cardiovascular system MP:0005385 10.41 BRAF CFC1 GNA11 GNAQ HRAS KRAS
5 nervous system MP:0003631 10.37 BRAF GNA11 GNAQ HRAS KRAS MAP2K1
6 muscle MP:0005369 10.36 BRAF GNA11 GNAQ HRAS KRAS LZTR1
7 endocrine/exocrine gland MP:0005379 10.34 BRAF GNA11 GNAQ HRAS KRAS MAP2K1
8 craniofacial MP:0005382 10.32 BRAF GNA11 GNAQ HRAS KRAS LZTR1
9 hearing/vestibular/ear MP:0005377 10.29 BRAF GNA11 GNAQ KRAS MAP2K1 MAP2K2
10 behavior/neurological MP:0005386 10.28 BRAF GNA11 GNAQ HRAS KRAS MAP2K1
11 neoplasm MP:0002006 10.26 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
12 embryo MP:0005380 10.25 BRAF CFC1 KRAS MAP2K1 MAP3K10 NF1
13 digestive/alimentary MP:0005381 10.24 BRAF CFC1 HRAS KRAS MAP2K1 MAP2K2
14 skeleton MP:0005390 10.2 BRAF CFC1 GNA11 GNAQ HRAS KRAS
15 liver/biliary system MP:0005370 10.18 BRAF CFC1 GNA11 KRAS NF1 NRAS
16 immune system MP:0005387 10.18 BRAF CFC1 GNA11 GNAQ KRAS MAP3K10
17 limbs/digits/tail MP:0005371 10.17 BRAF GNA11 GNAQ KRAS NF1 NRAS
18 pigmentation MP:0001186 10.16 BRAF GNA11 GNAQ KRAS NF1 NRAS
19 respiratory system MP:0005388 10.11 BRAF CFC1 GNA11 GNAQ HRAS KRAS
20 vision/eye MP:0005391 10 BRAF KRAS MAP2K1 MAP2K2 MPDZ NF1
21 hematopoietic system MP:0005397 9.93 BRAF CFC1 GNA11 GNAQ KRAS LZTR1
22 mortality/aging MP:0010768 9.86 BRAF CFC1 GNA11 GNAQ HRAS KRAS
23 integument MP:0010771 9.47 BRAF GNA11 GNAQ HRAS KRAS MAP2K1

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc oxide Approved 1314-13-2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Reliability and Validity of the Dutch Language Version of the Communication Function Classification System (CFCS-NL) and the Viking Speech Scale (VSS-NL) in Flanders, Belgium Completed NCT04500782
2 Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies. Recruiting NCT04395495
3 Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies Recruiting NCT04888936
4 Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Phase III Randomized Controlled Trial Recruiting NCT05361811

Search NIH Clinical Center for Cardiofaciocutaneous Syndrome 1

Cochrane evidence based reviews: cardiofaciocutaneous syndrome

Genetic Tests for Cardiofaciocutaneous Syndrome 1

Genetic tests related to Cardiofaciocutaneous Syndrome 1:

# Genetic test Affiliating Genes
1 Cardiofaciocutaneous Syndrome 1 28 BRAF
2 Cardio-Facio-Cutaneous Syndrome 28

Anatomical Context for Cardiofaciocutaneous Syndrome 1

Organs/tissues related to Cardiofaciocutaneous Syndrome 1:

MalaCards : Heart, Skin, Bone Marrow, Bone, Tongue, Fetal Liver, Eye
ODiseA: Brain, Heart-Atrium, Heart-Ventricle, Heart, Skin, Kidney

Publications for Cardiofaciocutaneous Syndrome 1

Articles related to Cardiofaciocutaneous Syndrome 1:

(show top 50) (show all 1337)
# Title Authors PMID Year
1
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 53 62 24 57 5
19206169 2009
2
Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. 62 24 57 5
16804887 2006
3
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 62 24 57 5
16439621 2006
4
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 62 24 57 5
16474404 2006
5
Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors. 53 62 57 5
19376813 2009
6
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. 53 62 57 5
17551924 2007
7
New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome. 62 57 5
25035421 2014
8
Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations. 53 62 24 5
20358587 2010
9
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. 62 57 5
18456719 2008
10
CFC syndrome: a syndrome distinct from Noonan syndrome. 62 57 5
3265306 1988
11
The RASopathies. 62 24 5
23875798 2013
12
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. 62 24 5
22495831 2012
13
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. 62 24 5
20523244 2011
14
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. 62 24 5
21062266 2011
15
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 57 5
18042262 2008
16
Neurological complications of cardio-facio-cutaneous syndrome. 62 24 5
18039235 2007
17
Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. 62 24 5
17567882 2007
18
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 62 24 5
17056636 2007
19
The cardiofaciocutaneous syndrome. 62 24 57
16825433 2006
20
Germline KRAS mutations cause Noonan syndrome. 62 24 5
16474405 2006
21
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. 57 5
16372351 2006
22
New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. 62 24 57
3789005 1986
23
Two novel germline KRAS mutations: expanding the molecular and clinical phenotype. 24 5
21797849 2012
24
MEK1 mutations confer resistance to MEK and B-RAF inhibition. 53 62 5
19915144 2009
25
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. 53 62 5
18470943 2008
26
Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma. 24 5
18632602 2008
27
Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy. 24 5
18060073 2007
28
Biochemical and functional characterization of germ line KRAS mutations. 53 62 5
17875937 2007
29
Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome. 53 62 5
17551339 2007
30
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 53 62 5
17366577 2007
31
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 24 5
16773572 2006
32
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 53 62 57
12634870 2003
33
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. 53 62 57
12384786 2002
34
A Noonan-like short stature syndrome with sparse hair. 24 57
3712393 1986
35
Ras/MAPK dysregulation in development causes a skeletal myopathy in an activating BrafL597V mouse model for cardio-facio-cutaneous syndrome. 62 5
33522658 2021
36
Mutation and Phenotypic Spectrum of Patients With RASopathies. 62 5
33452774 2021
37
Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy. 62 5
31972311 2020
38
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina. 62 5
31560489 2019
39
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients. 62 5
30141192 2019
40
Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders. 62 5
29084544 2017
41
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 62 5
28650561 2017
42
An adult case of cardiofaciocutaneous syndrome with BRAF mutation. 62 5
28524057 2017
43
BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method. 62 5
28404629 2017
44
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. 62 5
25423878 2015
45
Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene. 62 5
25463315 2015
46
The perinatal presentation of cardiofaciocutaneous syndrome. 62 5
24719372 2014
47
Behavioral profile in RASopathies. 62 5
24458522 2014
48
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 62 5
24451042 2014
49
Cardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemia. 62 5
24637312 2014
50
Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation. 62 5
24303953 2014

Variations for Cardiofaciocutaneous Syndrome 1

ClinVar genetic disease variations for Cardiofaciocutaneous Syndrome 1:

5 (show top 50) (show all 143)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRAS NM_004985.5(KRAS):c.466T>A (p.Phe156Ile) SNV Pathogenic
163758 rs397517042 GRCh37: 12:25362830-25362830
GRCh38: 12:25209896-25209896
2 MAP2K1 NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) SNV Pathogenic
13350 rs121908594 GRCh37: 15:66727442-66727442
GRCh38: 15:66435104-66435104
3 KRAS NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) SNV Pathogenic
Pathogenic
12586 rs104894359 GRCh37: 12:25380280-25380280
GRCh38: 12:25227346-25227346
4 BRAF NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) SNV Pathogenic
Pathogenic
Pathogenic
13965 rs180177034 GRCh37: 7:140501336-140501336
GRCh38: 7:140801536-140801536
5 BRAF NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) SNV Pathogenic
Pathogenic
13977 rs180177038 GRCh37: 7:140477807-140477807
GRCh38: 7:140778007-140778007
6 BRAF NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) SNV Pathogenic
Pathogenic
13978 rs180177039 GRCh37: 7:140477806-140477806
GRCh38: 7:140778006-140778006
7 BRAF NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) SNV Pathogenic
Pathogenic
13979 rs180177040 GRCh37: 7:140453987-140453987
GRCh38: 7:140754187-140754187
8 BRAF NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) SNV Pathogenic
Likely Pathogenic
13981 rs180177042 GRCh37: 7:140449165-140449165
GRCh38: 7:140749365-140749365
9 BRAF NM_004333.6(BRAF):c.1720C>T (p.His574Tyr) SNV Pathogenic
44810 rs397516894 GRCh37: 7:140454008-140454008
GRCh38: 7:140754208-140754208
10 BRAF NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) SNV Pathogenic
Likely Pathogenic
44811 rs397516895 GRCh37: 7:140453192-140453192
GRCh38: 7:140753392-140753392
11 BRAF NM_004333.6(BRAF):c.730A>C (p.Thr244Pro) SNV Pathogenic
40346 rs397507465 GRCh37: 7:140501342-140501342
GRCh38: 7:140801542-140801542
12 BRAF NM_004333.6(BRAF):c.1497A>T (p.Lys499Asn) SNV Pathogenic
40372 rs397507476 GRCh37: 7:140477811-140477811
GRCh38: 7:140778011-140778011
13 BRAF NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) SNV Pathogenic
Pathogenic
177844 rs180177036 GRCh37: 7:140477853-140477853
GRCh38: 7:140778053-140778053
14 BRAF NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg) SNV Pathogenic
280033 rs121913375 GRCh37: 7:140453139-140453139
GRCh38: 7:140753339-140753339
15 BRAF NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn) SNV Pathogenic
40371 rs397507476 GRCh37: 7:140477811-140477811
GRCh38: 7:140778011-140778011
16 BRAF NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) SNV Pathogenic
Likely Pathogenic
40390 rs397507484 GRCh37: 7:140453133-140453133
GRCh38: 7:140753333-140753333
17 BRAF NM_004333.6(BRAF):c.1502A>T (p.Glu501Val) SNV Pathogenic
Likely Pathogenic
40374 rs180177039 GRCh37: 7:140477806-140477806
GRCh38: 7:140778006-140778006
18 BRAF NM_004333.6(BRAF):c.1454T>G (p.Leu485Trp) SNV Pathogenic
1325840 GRCh37: 7:140477854-140477854
GRCh38: 7:140778054-140778054
19 BRAF NM_004333.6(BRAF):c.722C>T (p.Thr241Met) SNV Pathogenic
Pathogenic
29805 rs387906660 GRCh37: 7:140501350-140501350
GRCh38: 7:140801550-140801550
20 BRAF NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) SNV Pathogenic
Not Provided
44818 rs397507484 GRCh37: 7:140453133-140453133
GRCh38: 7:140753333-140753333
21 MAP2K2 NM_030662.4(MAP2K2):c.169T>G (p.Phe57Val) SNV Pathogenic
8273 rs121434498 GRCh37: 19:4117551-4117551
GRCh38: 19:4117553-4117553
22 BRAF NM_004333.6(BRAF):c.1798G>C (p.Val600Leu) SNV Pathogenic
376289 rs121913378 GRCh37: 7:140453137-140453137
GRCh38: 7:140753337-140753337
23 BRAF NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) SNV Pathogenic
Pathogenic
Pathogenic
Not Provided
29807 rs387906661 GRCh37: 7:140501351-140501351
GRCh38: 7:140801551-140801551
24 BRAF NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) SNV Pathogenic
Pathogenic
162797 rs180177042 GRCh37: 7:140449165-140449165
GRCh38: 7:140749365-140749365
25 BRAF NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) SNV Pathogenic
13976 rs180177037 GRCh37: 7:140477813-140477813
GRCh38: 7:140778013-140778013
26 BRAF NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) SNV Pathogenic
Pathogenic
13969 rs121913369 GRCh37: 7:140453146-140453146
GRCh38: 7:140753346-140753346
27 BRAF NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) SNV Pathogenic
Pathogenic
40366 rs397507473 GRCh37: 7:140481405-140481405
GRCh38: 7:140781605-140781605
28 BRAF NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) SNV Pathogenic
Likely Pathogenic
202193 rs794729219 GRCh37: 7:140453152-140453152
GRCh38: 7:140753352-140753352
29 BRAF NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) SNV Pathogenic
Pathogenic
Pathogenic
13973 rs180177035 GRCh37: 7:140501302-140501302
GRCh38: 7:140801502-140801502
30 BRAF NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) SNV Pathogenic
Pathogenic
13974 rs121913355 GRCh37: 7:140481402-140481402
GRCh38: 7:140781602-140781602
31 BRAF NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) SNV Pathogenic
Pathogenic
Pathogenic
13975 rs180177036 GRCh37: 7:140477853-140477853
GRCh38: 7:140778053-140778053
32 BRAF NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) SNV Pathogenic
Likely Pathogenic
13980 rs180177041 GRCh37: 7:140476806-140476806
GRCh38: 7:140777006-140777006
33 BRAF NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln) SNV Pathogenic
41446 rs121913364 GRCh37: 7:140453134-140453134
GRCh38: 7:140753334-140753334
34 MAP2K2 NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) SNV Pathogenic
Likely Pathogenic
177868 rs727504370 GRCh37: 19:4110556-4110556
GRCh38: 19:4110558-4110558
35 MAP2K2 NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys) SNV Pathogenic
8272 rs121434497 GRCh37: 19:4117550-4117550
GRCh38: 19:4117552-4117552
36 MAP2K1 NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) SNV Pathogenic
13351 rs121908595 GRCh37: 15:66729181-66729181
GRCh38: 15:66436843-66436843
37 MAP2K2 NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln) SNV Pathogenic
8275 rs267607230 GRCh37: 19:4110574-4110574
GRCh38: 19:4110576-4110576
38 MAP2K1 NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) SNV Pathogenic
Pathogenic
40781 rs727504317 GRCh37: 15:66727483-66727483
GRCh38: 15:66435145-66435145
39 BRAF NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) SNV Pathogenic
Pathogenic
Not Provided
40387 rs397507483 GRCh37: 7:140453148-140453148
GRCh38: 7:140753348-140753348
40 KRAS NM_004985.5(KRAS):c.458A>T (p.Asp153Val) SNV Pathogenic
12587 rs104894360 GRCh37: 12:25362838-25362838
GRCh38: 12:25209904-25209904
41 KRAS NM_004985.5(KRAS):c.40G>A (p.Val14Ile) SNV Pathogenic
12589 rs104894365 GRCh37: 12:25398279-25398279
GRCh38: 12:25245345-25245345
42 KRAS NM_004985.5(KRAS):c.108A>G (p.Ile36Met) SNV Pathogenic
Likely Pathogenic
163768 rs727503109 GRCh37: 12:25398211-25398211
GRCh38: 12:25245277-25245277
43 BRAF NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) SNV Pathogenic
40364 rs121913348 GRCh37: 7:140481417-140481417
GRCh38: 7:140781617-140781617
44 MAP2K1 NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) SNV Pathogenic/Likely Pathogenic
40744 rs397516792 GRCh37: 15:66729163-66729163
GRCh38: 15:66436825-66436825
45 BRAF NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) SNV Pathogenic/Likely Pathogenic
177672 rs121913341 GRCh37: 7:140453150-140453150
GRCh38: 7:140753350-140753350
46 BRAF NM_004333.6(BRAF):c.1722C>G (p.His574Gln) SNV Pathogenic/Likely Pathogenic
Likely Pathogenic
40384 rs397507481 GRCh37: 7:140454006-140454006
GRCh38: 7:140754206-140754206
47 BRAF NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) SNV Pathogenic/Likely Pathogenic
Likely Pathogenic
40347 rs397507466 GRCh37: 7:140501337-140501337
GRCh38: 7:140801537-140801537
48 BRAF NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) SNV Likely Pathogenic
162795 rs727502904 GRCh37: 7:140434563-140434563
GRCh38: 7:140734763-140734763
49 BRAF NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln) SNV Likely Pathogenic
40369 rs397507474 GRCh37: 7:140477861-140477861
GRCh38: 7:140778061-140778061
50 BRAF NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn) SNV Likely Pathogenic
177878 rs727504375 GRCh37: 7:140477859-140477859
GRCh38: 7:140778059-140778059

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 directly related to Cardiofaciocutaneous Syndrome 1:

# Pathway Source
1 Signaling by MAP2K mutants Reactome 66

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

(show top 50) (show all 208)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.04 BRAF GNA11 HRAS KRAS MAP2K1 MAP2K2
2
Show member pathways
14.01 BRAF GNA11 HRAS KRAS MAP2K1 MAP2K2
3
Show member pathways
14.01 SPRED1 SOS1 SHOC2 RAF1 PTPN11 NRAS
4 14 BRAF GNA11 GNAQ HRAS KRAS MAP2K1
5
Show member pathways
13.89 BRAF GNA11 HRAS KRAS MAP2K1 MAP2K2
6
Show member pathways
13.85 SOS2 SOS1 PTPN11 NRAS MAP2K2 MAP2K1
7
Show member pathways
13.84 SOS2 SOS1 RAF1 NRAS MAP3K10 MAP2K2
8
Show member pathways
13.78 BRAF GNA11 HRAS KRAS MAP2K1 MAP2K2
9
Show member pathways
13.76 BRAF GNA11 HRAS KRAS MAP2K1 MAP2K2
10
Show member pathways
13.7 SOS2 SOS1 RAF1 PTPN11 NRAS NF1
11
Show member pathways
13.63 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
12
Show member pathways
13.62 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
13
Show member pathways
13.58 GNA11 HRAS KRAS MAP3K10 NRAS RAF1
14
Show member pathways
13.54 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
15
Show member pathways
13.5 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
16
Show member pathways
13.49 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
17
Show member pathways
13.48 SOS1 RAF1 PTPN11 NRAS KRAS HRAS
18
Show member pathways
13.46 SOS2 SOS1 PTPN11 NRAS MAP2K1 KRAS
19
Show member pathways
13.34 BRAF GNA11 HRAS KRAS MAP2K1 MAP2K2
20
Show member pathways
13.3 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
21
Show member pathways
13.19 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
22
Show member pathways
13.17 RAF1 NRAS MPDZ MAP2K2 MAP2K1 KRAS
23
Show member pathways
13.17 BRAF GNA11 HRAS KRAS MAP2K1 MAP2K2
24
Show member pathways
13.16 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
25
Show member pathways
13.15 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
26
Show member pathways
13.14 SOS2 SOS1 RAF1 NRAS MAP2K1 KRAS
27
Show member pathways
13.14 SOS2 SOS1 RAF1 PTPN11 NRAS MAP2K2
28
Show member pathways
13.13 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
29 13.12 SPRED1 SOS1 PTPN11 NRAS MAP2K2 MAP2K1
30
Show member pathways
13.12 SOS2 SOS1 RAF1 NRAS MAP3K10 MAP2K2
31
Show member pathways
13.09 BRAF GNAQ HRAS KRAS MAP2K1 MAP2K2
32
Show member pathways
13.05 GNA11 HRAS KRAS MAP2K1 MAP2K2 NRAS
33
Show member pathways
13.02 SPRED1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
34
Show member pathways
13.01 SOS1 PTPN11 NRAS KRAS HRAS
35
Show member pathways
13.01 BRAF GNA11 GNAQ HRAS KRAS MAP2K1
36
Show member pathways
12.99 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
37
Show member pathways
12.98 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
38
Show member pathways
12.96 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
39
Show member pathways
12.96 SOS2 SOS1 RAF1 PTPN11 NRAS MAP2K2
40
Show member pathways
12.95 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
41
Show member pathways
12.95 BRAF HRAS KRAS MAP2K1 MAP2K2 MAP3K10
42
Show member pathways
12.95 BRAF GNA11 HRAS KRAS MAP2K1 MAP2K2
43
Show member pathways
12.93 BRAF GNA11 HRAS KRAS MAP2K1 MAP2K2
44
Show member pathways
12.92 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
45
Show member pathways
12.91 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
46
Show member pathways
12.91 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
47 12.9 SOS1 RAF1 MAP3K10 MAP2K2 MAP2K1 HRAS
48
Show member pathways
12.87 HRAS MAP2K1 MAP2K2 MPDZ RAF1 SOS1
49
Show member pathways
12.86 RAF1 PTPN11 NRAS MAP2K2 MAP2K1 KRAS
50
Show member pathways
12.85 SOS1 PTPN11 NRAS KRAS HRAS

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 GTPase complex GO:1905360 8.92 SOS1 HRAS

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 10.23 CFC1 GNA11 MAP2K1 MAP2K2 NF1 PTPN11
2 signal transduction GO:0007165 10.16 BRAF GNA11 GNAQ HRAS KRAS MAP2K1
3 peptidyl-tyrosine phosphorylation GO:0018108 10.1 MAP3K10 MAP2K2 MAP2K1 BRAF
4 visual learning GO:0008542 10.1 NF1 KRAS BRAF
5 epidermal growth factor receptor signaling pathway GO:0007173 10.08 BRAF PTPN11 SOS1
6 thymus development GO:0048538 10.08 RAF1 MAP2K2 MAP2K1 BRAF
7 positive regulation of axonogenesis GO:0050772 10.03 BRAF MAP2K2 MAP2K1
8 thyroid gland development GO:0030878 10.01 RAF1 MAP2K2 MAP2K1 BRAF
9 regulation of long-term neuronal synaptic plasticity GO:0048169 10 NF1 KRAS HRAS
10 neurotrophin TRK receptor signaling pathway GO:0048011 9.97 PTPN11 RAF1 SOS1
11 trachea formation GO:0060440 9.93 MAP2K2 MAP2K1
12 entrainment of circadian clock GO:0009649 9.91 GNAQ GNA11
13 regulation of T cell differentiation in thymus GO:0033081 9.91 SOS1 SOS2
14 regulation of MAPK cascade GO:0043408 9.89 SPRED1 PTPN11 NF1
15 regulation of pro-B cell differentiation GO:2000973 9.88 SOS2 SOS1
16 regulation of Golgi inheritance GO:0090170 9.88 MAP2K2 MAP2K1
17 epithelial cell proliferation involved in lung morphogenesis GO:0060502 9.87 MAP2K2 MAP2K1
18 positive regulation of protein serine/threonine kinase activity GO:0071902 9.87 KRAS MAP2K1 MAP2K2 RAF1 SOS1
19 face development GO:0060324 9.86 RAF1 MAP2K2 MAP2K1 BRAF
20 cerebellar cortex formation GO:0021697 9.85 PTPN11 MAP2K1
21 forebrain astrocyte development GO:0021897 9.84 NF1 KRAS
22 regulation of axon regeneration GO:0048679 9.83 MAP2K2 MAP2K1 BRAF
23 insulin receptor signaling pathway GO:0008286 9.81 SOS2 SOS1 RAF1 HRAS
24 Ras protein signal transduction GO:0007265 9.8 HRAS KRAS NF1 NRAS SHOC2 SOS1
25 insulin-like growth factor receptor signaling pathway GO:0048009 9.67 SOS1 RAF1 MAP2K2 MAP2K1
26 positive regulation of miRNA maturation GO:1903800 9.62 MAP2K2 MAP2K1
27 MAPK cascade GO:0000165 9.55 RAF1 NRAS NF1 MAP3K10 MAP2K2 MAP2K1

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

# Name GO ID Score Top Affiliating Genes
1 G protein activity GO:0003925 9.85 NRAS KRAS HRAS
2 protein tyrosine kinase activity GO:0004713 9.8 MAP3K10 MAP2K2 MAP2K1 BRAF
3 MAP kinase kinase kinase activity GO:0004709 9.65 RAF1 MAP3K10 BRAF
4 nucleotide binding GO:0000166 9.65 BRAF GNA11 GNAQ HRAS KRAS MAP2K1
5 MAP kinase kinase activity GO:0004708 9.63 MAP2K2 MAP2K1 BRAF
6 protein serine/threonine kinase activator activity GO:0043539 9.23 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS

Sources for Cardiofaciocutaneous Syndrome 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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