CFC1
MCID: CRD224
MIFTS: 71

Cardiofaciocutaneous Syndrome 1 (CFC1)

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

Aliases & Classifications for Cardiofaciocutaneous Syndrome 1

MalaCards integrated aliases for Cardiofaciocutaneous Syndrome 1:

Name: Cardiofaciocutaneous Syndrome 1 57 12 73 29 6
Cardiofaciocutaneous Syndrome 57 12 74 25 20 43 58 36 13 15
Cfc Syndrome 57 12 25 20 43 58 73 54
Cardio-Facio-Cutaneous Syndrome 20 43 73 29 6
Cfc1 57 12 73
Cfcs 57 73
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities and Growth Failure 20
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®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

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


GeneReviews:

25
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 : 43 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 bile duct cysts. 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 Ipratropium and Albuterol have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and bone, and related phenotypes are intellectual disability and coarse facial features

Disease Ontology : 12 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.

GARD : 20 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.

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 05-Mar-2021)

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 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 280)
# Related Disease Score Top Affiliating Genes
1 costello syndrome 32.1 SPRED1 SOS1 SHOC2 PTPN11 MAP2K2 MAP2K1
2 bile duct cysts 31.9 KRAS HRAS CFC1
3 heart septal defect 31.8 SOS1 SHOC2 PTPN11 CFC1
4 patent ductus arteriosus 1 31.8 SOS1 SHOC2 PTPN11 CFC1
5 atrial heart septal defect 31.7 SOS1 SHOC2 PTPN11 LZTR1 CFC1
6 cardiofaciocutaneous syndrome 4 31.5 MAP2K2 CFC1
7 pulmonary valve disease 31.3 SOS2 SOS1 SHOC2 RASA2 PTPN11 MAP2K2
8 pulmonary valve stenosis 31.1 SOS2 SOS1 SHOC2 RASA2 PTPN11 MAP2K2
9 lentigines 30.8 RAF1 PTPN11 BRAF
10 myelodysplastic/myeloproliferative neoplasm 30.8 PTPN11 NF1 HRAS
11 rhabdomyosarcoma 30.8 SOS1 PTPN11 NF1 MAP2K1 KRAS HRAS
12 embryonal rhabdomyosarcoma 30.8 SOS1 PTPN11 KRAS HRAS
13 hypertelorism 30.7 RAF1 PTPN11 LZTR1 BRAF
14 pulmonic stenosis 30.7 SOS1 NF1 BRAF
15 noonan syndrome with multiple lentigines 30.7 SYNGAP1 SPRED1 SOS2 SOS1 SHOC2 RRAS
16 pseudo-turner syndrome 30.7 SOS2 SOS1 SHOC2 RAF1 PTPN11 MAP2K2
17 noonan syndrome 3 30.7 SOS1 RAF1 PTPN11 KRAS HRAS
18 legius syndrome 30.6 SPRED1 PTPN11 NF1 HRAS
19 keratosis pilaris atrophicans faciei 30.4 SOS1 PTPN11 NF1 MAP2K1
20 corpus callosum lipoma 30.3 NF1 MAP2K1
21 ptosis 30.3 SYNGAP1 SOS1 SHOC2 PTPN11
22 rasopathy 30.2 SYNGAP1 SPRED1 SOS2 SOS1 SHOC2 RRAS
23 noonan syndrome 1 30.2 SOS2 SOS1 SHOC2 RRAS RASA2 RAF1
24 neurofibromatosis 30.0 SPRED1 SOS1 RASA2 RASA1 PTPN11 NF1
25 hypertrophic cardiomyopathy 29.6 SOS2 SOS1 SHOC2 RAF1 PTPN11 MAP2K2
26 heterotaxy 11.2
27 cardiofaciocutaneous syndrome 2 11.2
28 cardiofaciocutaneous syndrome 3 11.2
29 heart disease 11.1
30 visceral heterotaxy 11.1
31 double outlet right ventricle 11.0
32 heterotaxy, visceral, 2, autosomal 11.0
33 biliary atresia 11.0
34 woolly hair, autosomal dominant 11.0
35 hypotrichosis 8 11.0
36 pectus carinatum 11.0
37 conotruncal heart malformations 10.9
38 dextro-looped transposition of the great arteries 10.9
39 total anomalous pulmonary venous return 1 10.8
40 alagille syndrome 1 10.8
41 holt-oram syndrome 10.8
42 jacobsen syndrome 10.8
43 tetralogy of fallot 10.8
44 velocardiofacial syndrome 10.8
45 right atrial isomerism 10.8
46 methylmalonic acidemia and homocysteinemia, cblx type 10.8
47 atrioventricular septal defect 10.8
48 kartagener syndrome 10.8
49 primary ciliary dyskinesia 10.8
50 hypoplastic left heart 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 31 (show top 50) (show all 131)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001249
2 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
5 short stature 58 31 very rare (1%) Very frequent (99-80%) HP:0004322
6 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
7 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
8 abnormal heart valve morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001654
9 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
10 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
11 failure to thrive in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001531
12 atrial septal defect 58 31 very rare (1%) Very frequent (99-80%) HP:0001631
13 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
14 long face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000276
15 fine hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002213
16 pulmonic stenosis 58 31 very rare (1%) Very frequent (99-80%) HP:0001642
17 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
18 thickened helices 58 31 hallmark (90%) Very frequent (99-80%) HP:0000391
19 underdeveloped supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0009891
20 excessive wrinkled skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0007392
21 long palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000637
22 brittle hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002299
23 hypotonia 31 hallmark (90%) HP:0001252
24 macrocephaly 58 31 very rare (1%) Frequent (79-30%) HP:0000256
25 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
26 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
27 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
28 ptosis 58 31 very rare (1%) Frequent (79-30%) HP:0000508
29 nystagmus 58 31 very rare (1%) Frequent (79-30%) HP:0000639
30 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
31 short neck 58 31 very rare (1%) Frequent (79-30%) HP:0000470
32 depressed nasal bridge 58 31 very rare (1%) Frequent (79-30%) HP:0005280
33 hypertelorism 58 31 very rare (1%) Frequent (79-30%) HP:0000316
34 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
35 abnormality of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0002997
36 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
37 ichthyosis 58 31 frequent (33%) Frequent (79-30%) HP:0008064
38 strabismus 58 31 very rare (1%) Frequent (79-30%) HP:0000486
39 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
40 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
41 webbed neck 58 31 very rare (1%) Frequent (79-30%) HP:0000465
42 low posterior hairline 58 31 very rare (1%) Frequent (79-30%) HP:0002162
43 epicanthus 58 31 very rare (1%) Frequent (79-30%) HP:0000286
44 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
45 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
46 downslanted palpebral fissures 58 31 very rare (1%) Frequent (79-30%) HP:0000494
47 multiple cafe-au-lait spots 58 31 frequent (33%) Frequent (79-30%) HP:0007565
48 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
49 hypoplasia of the zygomatic bone 58 31 frequent (33%) Frequent (79-30%) HP:0010669
50 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Head And Neck Eyes:
ptosis
nystagmus
hypertelorism
optic nerve dysplasia
downslanting palpebral fissures
more
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

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

Skeletal Feet:
deep plantar creases

Skeletal Hands:
ulnar deviation
deep palmar creases

Prenatal Manifestations Amniotic Fluid:
polyhydraminos

Skeletal Spine:
scoliosis

Head And Neck Neck:
short neck
webbed neck

Growth Height:
short stature

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

Head And Neck Head:
dolichocephaly
macrocephaly, relative

Skin Nails Hair Hair:
sparse hair
curly hair
sparse eyebrows

Neurologic Central Nervous System:
hypotonia
developmental delay
mental retardation
seizures (in some patients)

Head And Neck Mouth:
high arched palate

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

Clinical features from OMIM®:

115150 (Updated 05-Mar-2021)

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-1 10.33 BRAF HRAS KRAS
2 Decreased viability GR00055-A-2 10.33 BRAF HRAS KRAS
3 Decreased viability GR00055-A-3 10.33 KRAS SOS1
4 Decreased viability GR00106-A-0 10.33 KRAS SPRED1
5 Decreased viability GR00107-A-1 10.33 MAP2K1
6 Decreased viability GR00221-A-1 10.33 HRAS KRAS NF1 RAF1
7 Decreased viability GR00221-A-2 10.33 HRAS KRAS NF1 RAF1
8 Decreased viability GR00221-A-3 10.33 HRAS MAP2K1 RASA1
9 Decreased viability GR00221-A-4 10.33 BRAF NF1 RASA1 RASA2
10 Decreased viability GR00240-S-1 10.33 SOS1
11 Decreased viability GR00249-S 10.33 BRAF NF1
12 Decreased viability GR00301-A 10.33 BRAF KRAS RAF1
13 Decreased viability GR00381-A-1 10.33 BRAF KRAS LZTR1 RASA1
14 Decreased viability GR00386-A-1 10.33 A2ML1 CFC1 LZTR1 NF1 RASA1 SOS1
15 Decreased viability GR00402-S-2 10.33 CFC1 LZTR1 RAF1 SOS1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 10.23 SOS1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 10.23 BRAF
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-118 10.23 PTPN11
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 10.23 SOS1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 10.23 PTPN11
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 10.23 PTPN11
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 10.23 PTPN11 RAF1 SOS1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 10.23 RAF1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.23 BRAF
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.23 BRAF
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 10.23 PTPN11
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-194 10.23 BRAF
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.23 SOS1
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.23 RAF1
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 10.23 BRAF
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 10.23 BRAF
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-32 10.23 BRAF
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 10.23 PTPN11
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-47 10.23 PTPN11
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.23 SOS1
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.23 BRAF
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-97 10.23 NF1
38 Decreased cell migration GR00055-A-1 9.8 SOS1 MAP2K2
39 Decreased cell migration GR00055-A-3 9.8 BRAF HRAS
40 Reduced mammosphere formation GR00396-S 9.17 BRAF HRAS KRAS PTPN11 SHOC2 SOS1

MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome 1:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.4 BRAF ETFDH HRAS KRAS LZTR1 MAP2K1
2 growth/size/body region MP:0005378 10.32 BRAF HRAS KRAS LZTR1 MAP2K1 MAP2K2
3 craniofacial MP:0005382 10.31 BRAF HRAS KRAS LZTR1 MAP2K1 MAP2K2
4 cellular MP:0005384 10.29 BRAF KRAS LZTR1 MAP2K1 MAP2K2 NF1
5 mortality/aging MP:0010768 10.25 BRAF ETFDH HRAS KRAS LZTR1 MAP2K1
6 digestive/alimentary MP:0005381 10.18 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
7 embryo MP:0005380 10.16 BRAF KRAS MAP2K1 NF1 PTPN11 RAF1
8 endocrine/exocrine gland MP:0005379 10.15 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
9 integument MP:0010771 10.13 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
10 hearing/vestibular/ear MP:0005377 10.06 BRAF KRAS MAP2K1 MAP2K2 NF1 PTPN11
11 muscle MP:0005369 10.02 BRAF HRAS KRAS LZTR1 NF1 PTPN11
12 neoplasm MP:0002006 9.97 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
13 normal MP:0002873 9.96 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
14 respiratory system MP:0005388 9.76 BRAF HRAS KRAS NF1 PTPN11 RAF1
15 skeleton MP:0005390 9.65 BRAF HRAS KRAS LZTR1 MAP2K1 MAP2K2
16 vision/eye MP:0005391 9.32 BRAF ETFDH KRAS MAP2K1 MAP2K2 NF1

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome 1

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

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ipratropium Approved, Experimental Phase 4 22254-24-6, 60205-81-4 43232 657309
2 Albuterol Phase 4
3 Tocolytic Agents Phase 4
4 Tiotropium Bromide Phase 4 136310-93-5
5 Cholinergic Antagonists Phase 4
6 Parasympatholytics Phase 4
7 Cholinergic Agents Phase 4
8 Anticonvulsants Phase 4
9 Bromides Phase 4
10
Budesonide Approved Phase 3 51333-22-3 63006 5281004
11 Respiratory System Agents Phase 3
12 Anti-Asthmatic Agents Phase 3
13 Anti-Inflammatory Agents Phase 3
14 Hormones Phase 3
15 Hormone Antagonists Phase 3
16
Beclomethasone Phase 3 4419-39-0 20469
17 glucocorticoids Phase 3
18 Bronchodilator Agents Phase 3
19 Adrenergic beta-Agonists Phase 3
20 Neurotransmitter Agents Phase 3
21 Adrenergic Agonists Phase 3
22 Adrenergic Agents Phase 3
23 Anesthetics Phase 3
24 Muscarinic Antagonists Phase 3
25
Glycopyrrolate Phase 3 596-51-0 3494
26 Methacholine Chloride Phase 3
27
Norflurane Approved, Experimental Phase 2 811-97-2
28
Racepinephrine Approved Phase 1, Phase 2 329-65-7 838
29
Epinephrine Approved, Vet_approved Phase 1, Phase 2 51-43-4 5816
30 Adrenergic alpha-Agonists Phase 1, Phase 2
31 Mydriatics Phase 1, Phase 2
32 Sympathomimetics Phase 1, Phase 2
33 Epinephryl borate Phase 1, Phase 2
34 Vasoconstrictor Agents Phase 1, Phase 2
35
Zinc oxide Approved 1314-13-2
36
Fluticasone Approved, Experimental 90566-53-3 62924
37 Dermatologic Agents
38 Anti-Allergic Agents
39 Psychotropic Drugs

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 A Randomized, Double-blind, Double-dummy, Parallel Group Trial Comparing 12 Weeks Treatment With Tiotropium Inhalation Capsules 18 mcg Via the HandiHaler® Once Daily to Combivent® Inhalation Aerosol CFC MDI 2 Actuations q.i.d. in COPD Patients Currently Prescribed Combivent® Inhalation Aerosol CFC MDI Completed NCT00388882 Phase 4 tiotropium;ipratropium bromide / albuterol
2 Multicentre, Multinational, Randomised, Double Blind, Double Dummy, Active Drug Controlled, Parallel Group Study Design Clinical Trial of the Efficacy and Tolerability of Beclomethasone Dipropionate 250 mcg Plus Salbutamol 100 mcg in HFA pMDI Fixed Combination vs. Beclomethasone Dipropionate 250 mcg Plus Salbutamol 100 mcg in CFC pMDI (Clenil® Compositum 250) Fixed Combination in a 12-week Treatment Period of Adult Patients With Uncontrolled Asthma Completed NCT00528723 Phase 3 salbutamol 100 mcg;BDP/salbutamol HFA pMDI;BDP/salbutamol CFC pMDI
3 A Multicenter, Randomized, Blinded, Double-dummy, Placebo-controlled, 3-period Cross-over Study to Evaluate the Effect of QVA149 on Patient Reported Dyspnea in Moderate to Severe Chronic Obstructive Pulmonary Disease (COPD), Using Tiotropium as an Active Control Completed NCT01490125 Phase 3 QVA149;Tiotropium;Placebo to QVA149;Placebo to tiotropium;Salbutamol/albuterol
4 A Phase 3, Randomised, Open-label, Crossover Study to Compare HFA vs CFC pMDI Formulations of Budesonide on Methacholine Hyper-reactivity in Patients With Stable, Persistent, Mild to Moderate Asthma Completed NCT00667992 Phase 3 Budesonide HFA;Budesonide CFC
5 A One-year Randomized, Double-blind, Placebo and Active-controlled Parallel Design Safety and Efficacy Comparison of COMBIVENT HFA Inhalation Aerosol to COMBIVENT (CFC) Inhalation Aerosol in Patients With COPD Terminated NCT02194205 Phase 3 COMBIVENT HFA;Placebo HFA;COMBIVENT CFC;Placebo CFC
6 A Single Dose, Randomized, Double-blind Crossover Comparison of Combivent CFC MDI and Albuterol HFA MDI in Patients With Moderate to Severe Persistent Asthma and Persistent Symptoms Despite Treatment With Inhaled Corticosteroids Completed NCT00096616 Phase 2 Combivent® CFC MDI;Albuterol HFA MDI
7 A Pilot Study of a Contact Force Catheter for Pulmonary Vein Antrum Isolation (CFC-PVAI) Completed NCT01538277 Phase 2
8 A Single-Dose, Double Blind, Crossover Trial to Determinate the Comparability of Ipratropium Bromide HFA-134a Inhalation Aerosol to the Market Standard, Atrovent® CFC Inhalation Aerosol, in Patients With Chronic Obstructive Pulmonary Disease (COPD) Completed NCT02260011 Phase 2 Ipratropium bromide HFA-134a inhalation aerosol;Atrovent® CFC inhalation aerosol;Placebo
9 An Open-Label, Crossover, Pharmacokinetic Trial to Determine the Comparability of 84 µg Ipratropium Bromide HFA-134a Inhalation Aerosol to 84 µg ATROVENT® CFC Inhalation Aerosol, in Patients With Chronic Obstructive Pulmonary Disease (COPD) Completed NCT02236169 Phase 2 Ipratropium bromide HFA-134a inhalation aerosol;Atrovent CFC inhalation aerosol
10 A Multicenter Randomized Study Starting With a 4 Week 2 Way Crossover Double Blind Treatment Phase Comparing the Efficacy and Safety of Combivent CFC MDI to Albuterol HFA MDI Followed by a 4 Week Open Label Combivent Respimat Treatment Phase When All Study Drugs Are Used for Symptom Relief as Needed in Pts With Moderate to Severe Asthma (GINA 2007 Treatment Steps 3-5) Completed NCT00818454 Phase 2 Combivent CFC MDI;Albuterol HFA MDI;Respimat Combivent
11 Assessment and Evaluation of Pharmacokinetic Profile of E004 in Healthy Adults (A Randomized, Evaluator-Blind, Single-Dose, Two Arm, Crossover, PK Study in Healthy Volunteers) Terminated NCT01737892 Phase 1, Phase 2 Arm T Epinephrine Inhalation Aerosol HFA, 125 mcg, 1 inhalation;Arm C-Epinephrine Inhalation Aerosol CFC
12 Safety Assessment of Cumulative Dose of Combivent® HFA-propelled Metered Dose Inhaler in Comparison to Combivent® CFC-propelled Metered Dose Inhaler. A Randomised, Double-blind, Active-controlled, Two-way Cross-over Study in COPD Patients Terminated NCT02182869 Phase 2 Combivent® HFA inhalation aerosol;Combivent® CFC inhalation aerosol
13 A Randomized, Placebo-controlled, Double-blind, 3 Way Cross-over Safety and Tolerability Study of Single and Repetitive Dosing of COMBIVENT® HFA Compared to COMBIVENT® CFC and Placebo HFA in Healthy Male and Female Subjects (Cumulative Dose: 1600 mcg (HFA) or 1648 mcg (CFC) of Salbutamol Sulfate, 288 mcg of Ipratropium Bromide) Completed NCT02173678 Phase 1 COMBIVENT® HFA-MDI;COMBIVENT® CFC-MDI;Placebo HFA-MDI
14 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
15 A Retrospective Evaluation of the Effectiveness and Cost-effectiveness of HFA-BDP MDI (Qvar®) Compared With CFC-BDP MDI and FP MDI Used in the Management of Asthma in a Representative UK UK Primary Care Population Completed NCT01141439 Extra-fine hydrofluoroalkane-beclomethasone dipropionate;Extra-fine hydrofluoroalkane-beclomethasone dipropionate;Fluticasone propionate;Beclomethasone dipropionate;fluticasone propionate;Chlorofluorocarbon beclomethasone dipropionate
16 Deficits in Emotion Regulation Skills as a Maintaining Factor in Major Depressive Disorder Completed NCT01330485
17 Reliability and Construct Validity of the Turkish Version of the Drooling Impact Scale Among Children With Cerebral Palsy Recruiting NCT04132765

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, Bone, Eye, Tongue, Lung

Publications for Cardiofaciocutaneous Syndrome 1

Articles related to Cardiofaciocutaneous Syndrome 1:

(show top 50) (show all 185)
# Title Authors PMID Year
1
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 25 57 6 54
19206169 2009
2
Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. 6 57 25
16804887 2006
3
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 6 25 57
16439621 2006
4
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 6 57 25
16474404 2006
5
Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. 6 57 61
21178588 2011
6
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. 6 57 54
17551924 2007
7
Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations. 54 25 6
20358587 2010
8
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 6 57
18042262 2008
9
The cardiofaciocutaneous syndrome. 57 25 61
16825433 2006
10
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. 57 6
16372351 2006
11
CFC syndrome: a syndrome distinct from Noonan syndrome. 6 57
3265306 1988
12
Two novel germline KRAS mutations: expanding the molecular and clinical phenotype. 6 25
21797849 2012
13
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 6 25
17056636 2007
14
Germline KRAS mutations cause Noonan syndrome. 6 25
16474405 2006
15
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. 61 54 57
12384786 2002
16
New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. 25 57
3789005 1986
17
A Noonan-like short stature syndrome with sparse hair. 25 57
3712393 1986
18
Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors. 54 57
19376813 2009
19
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 54 57
12634870 2003
20
CFC index for the diagnosis of cardiofaciocutaneous syndrome. 61 57
12239713 2002
21
Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. 61 57
10528867 1999
22
Cardiofaciocutaneous syndrome with new ectodermal manifestations. 61 57
1619641 1992
23
New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome. 57
25035421 2014
24
Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis. 57
22946697 2013
25
Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes. 6
23059812 2013
26
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. 61 25
20523244 2011
27
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. 25 61
21062266 2011
28
No reason yet to change diagnostic criteria for Noonan, Costello and cardio-facio-cutaneous syndromes. 57
19047498 2008
29
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. 57
18456719 2008
30
The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. 6
18386799 2008
31
Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations. 57
18039946 2008
32
Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. 6
17981815 2008
33
Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene. 54 25
17483702 2007
34
Guilty as charged: B-RAF is a human oncogene. 57
15488754 2004
35
CFC syndrome. 57
12522802 2003
36
Cardio-facio-cutaneous syndrome phenotype and del(12q). 57
12522803 2003
37
Editor's note: regarding correspondence on CFC syndrome and interstitial 12q deletions. 57
12522804 2003
38
Cardio-facio-cutaneous syndrome: first presentation in a 52-year-old woman. 57
12494447 2003
39
Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome? 57
12116271 2002
40
Partial deletion of chromosome 12q is not usually associated with CFC syndrome. 57
11102944 2000
41
Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype. 57
11078563 2000
42
Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome. 57
10925386 2000
43
Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family. 57
9781012 1998
44
Cardio-facio-cutaneous (CFC) syndrome--a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome. 57
9272711 1997
45
CFC syndrome: report of familial cases. 57
9147900 1996
46
Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation. 57
8725790 1996
47
The cardio-facio-cutaneous (CFC) syndrome--two possible new cases and review of the literature. 57
8867662 1996
48
Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome. 57
8867661 1996
49
The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome? 57
7917994 1994
50
Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases. 57
1358488 1992

Variations for Cardiofaciocutaneous Syndrome 1

ClinVar genetic disease variations for Cardiofaciocutaneous Syndrome 1:

6 (show top 50) (show all 212)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRAS NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) SNV Pathogenic 12586 rs104894359 12:25380280-25380280 12:25227346-25227346
2 KRAS NM_033360.4(KRAS):c.*22C>G SNV Pathogenic 12595 rs104894362 12:25362828-25362828 12:25209894-25209894
3 MAP2K1 NM_002755.3(MAP2K1):c.158T>C (p.Phe53Ser) SNV Pathogenic 13350 rs121908594 15:66727442-66727442 15:66435104-66435104
4 BRAF NM_001374258.1(BRAF):c.736G>C (p.Ala246Pro) SNV Pathogenic 13965 rs180177034 7:140501336-140501336 7:140801536-140801536
5 BRAF NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) SNV Pathogenic 13976 rs180177037 7:140477813-140477813 7:140778013-140778013
6 BRAF NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys) SNV Pathogenic 13977 rs180177038 7:140477807-140477807 7:140778007-140778007
7 BRAF NM_001374258.1(BRAF):c.1622A>G (p.Glu541Gly) SNV Pathogenic 13978 rs180177039 7:140477806-140477806 7:140778006-140778006
8 BRAF NM_001374258.1(BRAF):c.1861A>G (p.Asn621Asp) SNV Pathogenic 13979 rs180177040 7:140453987-140453987 7:140754187-140754187
9 BRAF NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) SNV Pathogenic 13981 rs180177042 7:140449165-140449165 7:140749365-140749365
10 BRAF NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) SNV Pathogenic 29807 rs387906661 7:140501351-140501351 7:140801551-140801551
11 KRAS NM_033360.4(KRAS):c.211T>C (p.Tyr71His) SNV Pathogenic 31940 rs387907205 12:25380247-25380247 12:25227313-25227313
12 KRAS NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) SNV Pathogenic 31941 rs387907206 12:25378559-25378559 12:25225625-25225625
13 BRAF NM_001374258.1(BRAF):c.736G>C (p.Ala246Pro) SNV Pathogenic 13965 rs180177034 7:140501336-140501336 7:140801536-140801536
14 MAP2K2 NM_030662.3(MAP2K2):c.169T>G (p.Phe57Val) SNV Pathogenic 8273 rs121434498 19:4117551-4117551 19:4117553-4117553
15 BRAF NM_001374258.1(BRAF):c.1909C>G (p.Leu637Val) SNV Pathogenic 13969 rs121913369 7:140453146-140453146 7:140753346-140753346
16 BRAF NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) SNV Pathogenic 40366 rs397507473 7:140481405-140481405 7:140781605-140781605
17 BRAF NM_001374258.1(BRAF):c.1840C>T (p.His614Tyr) SNV Pathogenic 44810 rs397516894 7:140454008-140454008 7:140754208-140754208
18 BRAF NM_001374258.1(BRAF):c.1863T>A (p.Asn621Lys) SNV Pathogenic 44811 rs397516895 7:140453192-140453192 7:140753392-140753392
19 BRAF NM_001374258.1(BRAF):c.1922A>C (p.Lys641Thr) SNV Pathogenic 44818 rs397507484 7:140453133-140453133 7:140753333-140753333
20 BRAF NM_001374258.1(BRAF):c.730A>C (p.Thr244Pro) SNV Pathogenic 40346 rs397507465 7:140501342-140501342 7:140801542-140801542
21 KRAS NM_004985.5(KRAS):c.466T>A (p.Phe156Ile) SNV Pathogenic 163758 rs397517042 12:25362830-25362830 12:25209896-25209896
22 MAP2K1 NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) SNV Pathogenic 13352 rs121908596 15:66729175-66729175 15:66436837-66436837
23 KRAS NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) SNV Pathogenic 12590 rs104894366 12:25398218-25398218 12:25245284-25245284
24 MAP2K2 NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) SNV Pathogenic 8274 rs121434499 19:4110557-4110557 19:4110559-4110559
25 BRAF NM_001374258.1(BRAF):c.736G>C (p.Ala246Pro) SNV Pathogenic 13965 rs180177034 7:140501336-140501336 7:140801536-140801536
26 BRAF NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) SNV Pathogenic 29807 rs387906661 7:140501351-140501351 7:140801551-140801551
27 BRAF NM_001374258.1(BRAF):c.722C>T (p.Thr241Met) SNV Pathogenic 29805 rs387906660 7:140501350-140501350 7:140801550-140801550
28 MAP2K1 NM_002755.3(MAP2K1):c.158T>C (p.Phe53Ser) SNV Pathogenic 13350 rs121908594 15:66727442-66727442 15:66435104-66435104
29 MAP2K2 NM_030662.3(MAP2K2):c.169T>G (p.Phe57Val) SNV Pathogenic 8273 rs121434498 19:4117551-4117551 19:4117553-4117553
30 KRAS NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) SNV Pathogenic 12586 rs104894359 12:25380280-25380280 12:25227346-25227346
31 BRAF NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) SNV Pathogenic 29807 rs387906661 7:140501351-140501351 7:140801551-140801551
32 BRAF NM_001374258.1(BRAF):c.1861A>G (p.Asn621Asp) SNV Pathogenic 13979 rs180177040 7:140453987-140453987 7:140754187-140754187
33 BRAF NM_001374258.1(BRAF):c.1622A>G (p.Glu541Gly) SNV Pathogenic 13978 rs180177039 7:140477806-140477806 7:140778006-140778006
34 BRAF NM_004333.6(BRAF):c.1497A>T (p.Lys499Asn) SNV Pathogenic 40372 rs397507476 7:140477811-140477811 7:140778011-140778011
35 BRAF NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys) SNV Pathogenic 13977 rs180177038 7:140477807-140477807 7:140778007-140778007
36 BRAF NM_001374258.1(BRAF):c.1575G>T (p.Leu525Phe) SNV Pathogenic 177844 rs180177036 7:140477853-140477853 7:140778053-140778053
37 BRAF NM_004333.6(BRAF):c.1722C>G (p.His574Gln) SNV Pathogenic 40384 rs397507481 7:140454006-140454006 7:140754206-140754206
38 KRAS NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) SNV Pathogenic 12586 rs104894359 12:25380280-25380280 12:25227346-25227346
39 KRAS NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) SNV Pathogenic 12590 rs104894366 12:25398218-25398218 12:25245284-25245284
40 BRAF NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg) SNV Pathogenic 280033 rs121913375 7:140453139-140453139 7:140753339-140753339
41 BRAF NM_004333.6(BRAF):c.1798G>C (p.Val600Leu) SNV Pathogenic 376289 rs121913378 7:140453137-140453137 7:140753337-140753337
42 MAP2K2 NM_030662.3(MAP2K2):c.376A>G (p.Asn126Asp) SNV Pathogenic 376176 rs1057519806 19:4110581-4110581 19:4110583-4110583
43 MAP2K1 MAP2K1, 3-BP DEL, AAG, EX2 Deletion Pathogenic 869364
44 MAP2K1 NM_002755.4(MAP2K1):c.371C>A (p.Pro124Gln) SNV Pathogenic 40743 rs397516792 15:66729163-66729163 15:66436825-66436825
45 BRAF NM_001374258.1(BRAF):c.1575G>T (p.Leu525Phe) SNV Pathogenic 177844 rs180177036 7:140477853-140477853 7:140778053-140778053
46 KRAS NM_004985.5(KRAS):c.458A>T (p.Asp153Val) SNV Pathogenic 12587 rs104894360 12:25362838-25362838 12:25209904-25209904
47 KRAS NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) SNV Pathogenic 12594 rs104894361 12:25398304-25398304 12:25245370-25245370
48 BRAF NM_001374258.1(BRAF):c.770A>G (p.Gln257Arg) SNV Pathogenic 13973 rs180177035 7:140501302-140501302 7:140801502-140801502
49 BRAF NM_001374258.1(BRAF):c.1526G>A (p.Gly509Glu) SNV Pathogenic 13974 rs121913355 7:140481402-140481402 7:140781602-140781602
50 BRAF NM_001374258.1(BRAF):c.1575G>C (p.Leu525Phe) SNV Pathogenic 13975 rs180177036 7:140477853-140477853 7:140778053-140778053

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 208)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.36 SYNGAP1 SPRED1 SOS2 SOS1 RASA2 RASA1
2
Show member pathways
14.22 SYNGAP1 SPRED1 SOS1 RASA2 RASA1 RAF1
3
Show member pathways
14.04 SYNGAP1 SOS2 SOS1 RRAS RASA1 RAF1
4
Show member pathways
13.97 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
5
Show member pathways
13.94 SYNGAP1 SOS1 RASA2 RASA1 RAF1 PTPN11
6
Show member pathways
13.86 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
7
Show member pathways
13.83 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
8
Show member pathways
13.75 SOS2 SOS1 RRAS RAF1 PTPN11 MAP2K2
9
Show member pathways
13.73 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
10
Show member pathways
13.64 SOS2 SOS1 RRAS RASA2 RAF1 MAP2K2
11
Show member pathways
13.61 SYNGAP1 SPRED1 SOS2 SOS1 RRAS RASA2
12
Show member pathways
13.6 SYNGAP1 SPRED1 SOS1 RASA2 RASA1 RAF1
13
Show member pathways
13.51 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
14
Show member pathways
13.5 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
15
Show member pathways
13.47 SYNGAP1 SOS2 SOS1 RRAS RASA2 RASA1
16
Show member pathways
13.33 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
17
Show member pathways
13.29 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
18
Show member pathways
13.29 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
19
Show member pathways
13.29 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
20
Show member pathways
13.27 SOS2 SOS1 RRAS RASA1 RAF1 MAP2K2
21
Show member pathways
13.25 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
22
Show member pathways
13.2 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
23
Show member pathways
13.19 SOS2 SOS1 RRAS RASA1 RAF1 MAP2K2
24
Show member pathways
13.18 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
25
Show member pathways
13.17 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
26
Show member pathways
13.16 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
27
Show member pathways
13.14 RRAS RAF1 MAP2K2 MAP2K1 KRAS HRAS
28
Show member pathways
13.14 SOS2 SOS1 RRAS RAF1 MAP2K1 KRAS
29
Show member pathways
13.14 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
30
Show member pathways
13.14 SOS2 SOS1 RRAS RASA1 RAF1 MAP2K2
31 13.11 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
32
Show member pathways
13.11 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
33
Show member pathways
13.09 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
34
Show member pathways
13.08 RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
35
Show member pathways
13.06 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
36
Show member pathways
13.03 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
37
Show member pathways
12.99 SOS2 SOS1 RASA1 RAF1 PTPN11 MAP2K2
38
Show member pathways
12.97 SOS2 SOS1 RAF1 NF1 MAP2K2 MAP2K1
39
Show member pathways
12.96 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
40
Show member pathways
12.95 RRAS RAF1 PTPN11 MAP2K2 MAP2K1 HRAS
41 12.95 SOS2 SOS1 RRAS RASA2 RASA1 RAF1
42
Show member pathways
12.93 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
43
Show member pathways
12.93 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
44
Show member pathways
12.93 RRAS RAF1 MAP2K2 MAP2K1 KRAS HRAS
45
Show member pathways
12.92 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
46 12.92 SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
47
Show member pathways
12.91 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
48
Show member pathways
12.89 SOS2 SOS1 RRAS RAF1 PTPN11 MAP2K2
49
Show member pathways
12.89 SOS2 SOS1 RRAS RAF1 PTPN11 NF1
50
Show member pathways
12.87 SOS2 SOS1 RASA1 RAF1 PTPN11 MAP2K2

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 9.5 SYNGAP1 SPRED1 SOS2 SOS1 SHOC2 RASA2

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.03 SYNGAP1 SOS1 SHOC2 RRAS RASA2 RASA1
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.92 PTPN11 MAP2K1 HRAS BRAF
3 heart development GO:0007507 9.92 RAF1 PTPN11 NF1 MAP2K1 CFC1
4 positive regulation of GTPase activity GO:0043547 9.88 SYNGAP1 SOS1 RASA2 RASA1 NF1 HRAS
5 liver development GO:0001889 9.83 NF1 KRAS HRAS
6 ephrin receptor signaling pathway GO:0048013 9.82 RASA1 PTPN11 HRAS
7 fibroblast growth factor receptor signaling pathway GO:0008543 9.82 SPRED1 SHOC2 PTPN11
8 regulation of GTPase activity GO:0043087 9.8 SYNGAP1 RASA2 RASA1 NF1
9 negative regulation of neuron apoptotic process GO:0043524 9.77 SYNGAP1 RASA1 KRAS HRAS BRAF
10 epidermal growth factor receptor signaling pathway GO:0007173 9.76 SOS1 PTPN11 BRAF
11 thymus development GO:0048538 9.75 RAF1 MAP2K1 BRAF
12 thyroid gland development GO:0030878 9.69 RAF1 MAP2K1 BRAF
13 regulation of T cell proliferation GO:0042129 9.66 SOS2 SOS1
14 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.65 MAP2K2 MAP2K1
15 neurotrophin TRK receptor signaling pathway GO:0048011 9.65 SOS1 RAF1 PTPN11
16 regulation of stress-activated MAPK cascade GO:0032872 9.64 MAP2K2 MAP2K1
17 Bergmann glial cell differentiation GO:0060020 9.63 PTPN11 MAP2K1
18 lymphocyte homeostasis GO:0002260 9.63 SOS2 SOS1
19 regulation of long-term neuronal synaptic plasticity GO:0048169 9.63 SYNGAP1 KRAS HRAS
20 regulation of early endosome to late endosome transport GO:2000641 9.62 MAP2K2 MAP2K1
21 visual learning GO:0008542 9.62 SYNGAP1 NF1 KRAS BRAF
22 response to isolation stress GO:0035900 9.61 KRAS HRAS
23 positive regulation of small GTPase mediated signal transduction GO:0051057 9.61 SOS2 SOS1
24 face development GO:0060324 9.61 RAF1 MAP2K1 BRAF
25 regulation of axon regeneration GO:0048679 9.6 MAP2K1 BRAF
26 regulation of T cell differentiation in thymus GO:0033081 9.59 SOS2 SOS1
27 regulation of pro-B cell differentiation GO:2000973 9.57 SOS2 SOS1
28 regulation of Golgi inheritance GO:0090170 9.56 MAP2K2 MAP2K1
29 cerebellar cortex formation GO:0021697 9.55 PTPN11 MAP2K1
30 forebrain astrocyte development GO:0021897 9.54 NF1 KRAS
31 Ras protein signal transduction GO:0007265 9.5 SYNGAP1 SOS1 SHOC2 RRAS NF1 KRAS
32 negative regulation of Ras protein signal transduction GO:0046580 9.46 SYNGAP1 RASA2 RASA1 LZTR1
33 MAPK cascade GO:0000165 9.4 SYNGAP1 SPRED1 SOS1 RASA2 RASA1 RAF1

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

# Name GO ID Score Top Affiliating Genes
1 GDP binding GO:0019003 9.43 RRAS KRAS HRAS
2 mitogen-activated protein kinase kinase binding GO:0031434 9.37 RAF1 BRAF
3 protein-containing complex binding GO:0044877 9.35 RRAS RAF1 KRAS HRAS BRAF
4 scaffold protein binding GO:0097110 9.33 MAP2K2 MAP2K1 BRAF
5 MAP-kinase scaffold activity GO:0005078 9.32 MAP2K2 MAP2K1
6 GTPase activator activity GO:0005096 9.02 SYNGAP1 SOS1 RASA2 RASA1 NF1

Sources for Cardiofaciocutaneous Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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