Cardiofaciocutaneous Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CFC1 MCID: CRD224 MIFTS: 71	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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Cardiovascular diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

Rare circulatory system diseases

Rare cardiac malformations

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060233 DOID:0111460

OMIM® ⁵⁷ 115150

OMIM Phenotypic Series ⁵⁷ PS115150

KEGG ³⁶ H01745

MeSH ⁴⁴ D004476 D006330

ICD10 ³² Q87.8

MESH via Orphanet ⁴⁵ C535579

ICD10 via Orphanet ³³ Q87.8

UMLS via Orphanet ⁷² C1275081

Orphanet ⁵⁸ ORPHA1340

MedGen ⁴¹ C1275081

SNOMED-CT via HPO ⁶⁸ 103276001 110343009 111266001 more

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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

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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:

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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

Sources

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

Ipratropium

Approved, Experimental

Phase 4

22254-24-6, 60205-81-4

43232 657309

Synonyms:

(+-)-Ipratropine

(3-endo,8-syn)-3-(3-Hydroxy-1-oxo-2-phenylpropoxy)-8-methyl-8-(1-methylethyl)-8-azoniabicyclo(3.2.1)octane

(3-endo,8-syn)-3-[(3-hydroxy-2-phenylpropanoyl)oxy]-8-isopropyl-8-methyl-8-azoniabicyclo[3.2.1]octane

(8-methyl-8-propan-2-yl-8-azoniabicyclo[3.2.1]octan-3-yl) 3-hydroxy-2-phenylpropanoate

(endo,Syn)-(+-)-3-(3-hydroxy-1-oxo-2-phenylpropoxy)-8-methyl-8-(1-methylethyl)-8-azoniabicyclo(3.2.1)octane

(endo,Syn)-(+-)-3-(3-hydroxy-1-oxo-2-phenylpropoxy)-8-methyl-8-(1-methylethyl)-8-azoniabicyclo[3.2.1]octane bromide

[(1R,5R)-8-methyl-8-propan-2-yl-8-azoniabicyclo[3.2.1]octan-3-yl] 3-hydroxy-2-phenylpropanoate

[(1R,5S)-8-methyl-8-propan-2-yl-8-azoniabicyclo[3.2.1]octan-3-yl] (2R)-3-hydroxy-2-phenylpropanoate

[(1R,5S)-8-methyl-8-propan-2-yl-8-azoniabicyclo[3.2.1]octan-3-yl] 3-hydroxy-2-phenylpropanoate

[(5R)-8-methyl-8-propan-2-yl-8-azoniabicyclo[3.2.1]octan-3-yl] 3-hydroxy-2-phenylpropanoate

22254-24-6 (bromide)

3-[(3-hydroxy-2-phenylpropanoyl)oxy]-8-methyl-8-(propan-2-yl)-8-azoniabicyclo[3.2.1]octane

3a-Hydroxy-8-isopropyl-1alphah,5alphah-tropanium bromide (+-)-tropate

3a-Hydroxy-8-isopropyl-1alphah,5alphah-tropanium bromide (+-)-tropic acid

3alpha-Hydroxy-8-isopropyl-1alphah,5alphah-tropanium bromide (+-)-tropate

3alpha-Hydroxy-8-isopropyl-1alphah,5alphah-tropanium bromide (+-)-tropic acid

3Α-hydroxy-8-isopropyl-1alphah,5alphah-tropanium bromide (+-)-tropate

3Α-hydroxy-8-isopropyl-1alphah,5alphah-tropanium bromide (+-)-tropic acid

60205-81-4

8-Isopropylnoratropine methobromide

AB00513864

AC1L1GMB

AC1L29FR

AC1LCWC1

AC1NWANU

AC1O7GEJ

AC1Q6241

Aerodose

Aerovent

Anhydrous, ipratropium bromide

Apo-Ipravent

Apovent

AR-1F0540

Atronase

Atrovent

Atrovent Aerosol

Atrovent Hfa

Atrovent Nasal

BIDD:GT0659

Bitrop

BPBio1_000430

BRD-A05352148-004-02-0

BRD-A07029265-004-02-9

BRD-A37432947-004-02-5

Bromide anhydrous, ipratropium

Bromide monohydrate, ipratropium

Bromure d'ipratropium

bromuro de ipratropio

Bromuro de ipratropio

BSPBio_000390

BSPBio_002202

C07052

CAS-22254-24-6

CHEBI:5956

CID3746

CID43232

CID5702074

CID657309

CID6604365

CPD001906775

DB00332

Disne-Asmol

DivK1c_000201

HMS2089K19

IDI1_000201

Ipatropium bromide

Ipatropium Bromide

Ipratropii bromidum

ipratropium

Ipratropium

ipratropium bromide

Ipratropium bromide

Ipratropium bromide (anhydrous)

Ipratropium bromide anhydrous

Ipratropium bromide monohydrate

Ipratropium bromide, (endo,anti)-isomer

Ipratropium bromide, (exo,syn)-isomer

Ipratropium bromide, endo-isomer

Ipratropium cation

Ipratropium ion

Ipratropiumbromid

Ipravent

Ipvent

Itrop

KBio1_000201

KBio2_001283

KBio2_003851

KBio2_006419

KBio3_001422

KBioGR_000421

KBioSS_001283

Kendral-Ipratropium

L000784

LS-182152

LS-187321

LS-187697

MolPort-006-830-024

Monohydrate, ipratropium bromide

N Isopropylatropine

Narilet

NCGC00016761-01

NCGC00018212-01

NCGC00024735-01

NCGC00163226-01

NCGC00178765-01

NCGC00179574-01

NINDS_000201

N-Isopropylatropine

N-Isopropylnoratropinium bromomethylate

N-Isopropylnoratropinium bromomethylic acid

Prestwick0_000575

Prestwick1_000575

Prestwick2_000575

Prestwick3_000575

Rhinotrop

Rhinovent

Rinatec

Rinoberen

Rinovagos

SAM002564215

SPBio_001270

SPBio_002609

Spectrum_000803

Spectrum2_001275

Spectrum3_000471

Spectrum4_000021

Spectrum5_000874

Tocris-0692

UNII-GR88G0I6UL

Vagos

X8M

ZINC13782937

ZINC13907155

Albuterol

Phase 4

Tocolytic Agents

Phase 4

Tiotropium Bromide

Phase 4

136310-93-5

Cholinergic Antagonists

Phase 4

Parasympatholytics

Phase 4

Cholinergic Agents

Phase 4

Anticonvulsants

Phase 4

Bromides

Phase 4

Budesonide

Approved

Phase 3

51333-22-3

63006 5281004

Synonyms:

(11b,16a)-16,17-(Butylidenebis(oxy))-11,21-dihydroxypregna-1,4-diene-3,20-dione

(11beta,16alpha)-16,17-(Butylidenebis(oxy))-11,21-dihydroxypregna-1,4-diene-3,20-dione

(11-beta,16-alpha)-16,17-(Butylidenebis(oxy))-11,21-dihydroxypregna-1,4-diene-3,20-dione

(11β,16α)-16,17-(Butylidenebis(oxy))-11,21-dihydroxypregna-1,4-diene-3,20-dione

(11Β,16α)-16,17-(butylidenebis(oxy))-11,21-dihydroxypregna-1,4-diene-3,20-dione

(4aR,4bS,5S,6aS,6bS,8R,9aR,10aS,10bS)-5-hydroxy-6b-(hydroxyacetyl)-4a,6a-dimethyl-8-propyl-4a,4b,5,6,6a,6b,9a,10,10a,10b,11,12-dodecahydro-2H-naphtho[2',1':4,5]indeno[1,2-d][1,3]dioxol-2-one

(4aR,4bS,5S,6aS,6bS,9aR,10aS,10bS)-5-hydroxy-6b-(hydroxyacetyl)-4a,6a-dimethyl-8-propyl-4a,4b,5,6,6a,6b,9a,10,10a,10b,11,12-dodecahydro-2H-naphtho[2',1':4,5]indeno[1,2-d][1,3]dioxol-2-one

(R,S)-11b,16a,17,21,tetrahydroxypregna-1,4-diene-3,20-dione cyclic 16,17-acetal with buty raldehyde

(RS)-(11beta,16alpha)-16,17-[Butylidenebis(oxy)]-11,21-dihydroxypregna-1,4-diene-3,20-dione

(RS)-11beta,16alpha,17,21-Tetrahydroxypregna-1,4-diene-3,20-dione cyclic 16,17-acetal with butyraldehyde

(S)-16alpha,17-(Butylidenedioxy)-11beta,21-dihydroxypregna-1,4-diene-3,20-dione

11beta,21-dihydroxy-16alpha,17alpha-(butane-1,1-diyldioxy)pregna-1,4-diene-3,20-dione

16,17-Butylidenebis(oxy)-11,21-dihydroxypregna-1,4-diene-3,20-dione

16,17-Butylidenebis(oxy)-11-,21-dihydroxypregna-1,4-diene-3,20-dione

16alpha(R),17-(Butylidenebis(oxy))-11beta,21-dihydroxypregna-1,4-diene-3,20-dione

16-alpha,17-alpha-Butylidenedioxy-11-beta,21-dihydroxy-1,4-pregnadiene-3,20-dione

16alpha-,17alpha--butylidenedioxypregna-1,4-diene-11beta-,21-diol-3,20-dione

51333-22-3

AC1L1DQE

AC1L1Y6Y

AC1L22VC

AC1MHWI7

AC-4697

B 7777

B7777_SIGMA

Bidien

Bio-0010

BPBio1_000523

BRD-A34299591-001-03-4

BRD-A82238138-001-01-7

BSPBio_000475

BSPBio_002160

Budecort Inhaler

Budenofalk

Budeson

Budesónida

budesonide

Budesonide

Budesonide (JAN/USAN/INN)

Budesonide [USAN:INN:BAN:JAN]

Budesonide Easyhaler

Budesonide MMX

Budesonide, (R)-isomer

Budesonide, (S)-isomer

Budesonido

Budesonido [INN-Spanish]

Budesonidum

Budesonidum [INN-Latin]

Budiair

Budicort

C25H34O6

CCRIS 5230

CHEBI:3207

CHEBI:656601

CHEMBL1370

CID2462

CID3033890

CID40000

CID5281004

CID63006

Cortivent

CPD000058337

D00246

DB01222

Desowen

Dexbudesonide

Dexbudesonide [INN]

DivK1c_000475

EINECS 257-139-7

EINECS 257-160-1

EINECS 257-161-7

Entocort

Entocort ec

Entocort EC

Entocort EC (TN)

EU-0100174

Giona Easyhaler

HMS1569H17

HMS1921I22

HMS2094I13

HMS501H17

Horacort

IDI1_000475

Inflammide

KBio1_000475

KBio3_001660

KBioGR_001361

Lopac0_000174

LS-187734

LS-7235

MAP-0010

Micronyl

Miflonide

MLS000028507

MLS001077323

MLS002207112

MolPort-002-529-265

MolPort-003-666-332

MolPort-003-986-909

NCGC00015165-03

NCGC00021318-03

NCGC00021318-06

NCGC00089747-02

NCGC00089747-03

NCGC00089747-04

NCGC00178789-01

NINDS_000475

Noex

Preferid

Pregna-1,4-diene-3,20-dione, 16,17-butylidenebis(oxy)-11,21-dihydroxy-, (11beta,16alpha(R))-, and 16alpha,17-((S)-Butylidenebis(oxy))-11beta,21-dihydroxypregna-1,4-diene-3,20-dione

Prestwick_840

Prestwick0_000518

Prestwick1_000518

Prestwick2_000518

Prestwick3_000518

Pulmaxan

Pulmaxan turbohaler

Pulmicort

Pulmicort (TN)

Pulmicort Flexhaler

Pulmicort Nebuamp

Pulmicort Respules

Pulmicort Topinasal

Pulmicort turbuhaler

Pulmicort Turbuhaler

Respules

Rhinocort

Rhinocort alpha

Rhinocort Aqua

Rhinocort Turbuhaler

Rhinocort, Pulmicort , Entocort, Symbicort, Noex. Entocort EC, Budesonide

Rhinosol

S 1320

S1286_Selleck

S-1320

SAM002699898

SMR000058337

SPBio_000586

SPBio_002396

SPECTRUM1500813

Spectrum2_000623

Spectrum3_000620

Spectrum4_000821

Spectrum5_001738

Spirocort

ST51039033

TL8003397

Tridesilon

Uceris

UDB

UNII-168L5HT37P

UNII-2HI1006KPH

UNII-Q3OKS62Q6X

Unit dose budesonide

ZINC03938751

ZINC04097286

Respiratory System Agents

Phase 3

Anti-Asthmatic Agents

Phase 3

Anti-Inflammatory Agents

Phase 3

Hormones

Phase 3

Hormone Antagonists

Phase 3

Beclomethasone

Phase 3

4419-39-0

20469

Synonyms:

(11beta,16beta)-9-chloro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione

(8R,9S,10S,11S,13R,14R,16R,17R)-9-chloro-11,17-dihydroxy-17-(2-hydroxyacetyl)-10,13,16-trimethyl-6,7,8,11,12,14,15,16-octahydrocyclopenta[a]phenanthren-3-one

(8S,9R,10S,11S,13S,14S,16S,17R)-9-chloro-11,17-dihydroxy-17-(2-hydroxyacetyl)-10,13,16-trimethyl-6,7,8,11,12,14,15,16-octahydrocyclopenta[a]phenanthren-3-one

4419-39-0

9alpha-Chloro-11beta,17alpha,21-trihydroxy-16beta-methylpregna-1,4-diene-3,20-dione

9alpha-Chloro-16beta-methyl-1,4-pregnadiene-11beta,17alpha,21-triol-3,20-dione

9alpha-Chloro-16beta-methylprednisolone

9-chloro-11,17-dihydroxy-17-(2-hydroxyacetyl)-10,13,16-trimethyl-6,7,8,11,12,14,15,16-octahydrocyclopenta[a]phenanthren-3-one

9-Chloro-11beta,17,21-trihydroxy-16beta-methylpregna-1,4-diene-3,20-dione

AC1L1DDX

AC1L2GBM

AC1O7G0A

Anceron

B 0385

B0385_SIGMA

BCBcMAP01_000159

Beclocort

Beclometason

Beclometason (TN)

Beclometasona

Beclometasona [INN-Spanish]

Beclometasondipropionat Mikron

Beclometasone (INN)

Beclometasone [INN]

Beclometasonum

Beclometasonum [INN-Latin]

beclomethasone

Becloval

Becodisks

Beconasol

Becotide

BIDD:GT0556

BMJ 5800

C06842

C22H29ClO5

CHEBI:3001

CHEMBL1586

CID11407187

CID11957468

CID20469

CID2308

CID6603734

CPD000466920

D07495

DB00394

EINECS 224-585-9

EU-0100159

HMS2052E17

Inalone

Lopac0_000159

Lopac-B-0385

LS-174992

MLS000028668

MLS001076089

MLS001333211

MLS001333212

MLS001424231

MLS002153387

MolPort-003-844-701

MolPort-003-940-375

NCGC00015136-01

NCGC00015136-02

NCGC00093647-01

NCGC00162078-01

NCGC00162078-02

NCGC00164402-01

SAM001246898

SMP1_000039

SMR000058899

SMR000466920

UNII-KGZ1SLC28Z

Vancenase AQ

Viarex

ZINC04097285

glucocorticoids

Phase 3

Bronchodilator Agents

Phase 3

Adrenergic beta-Agonists

Phase 3

Neurotransmitter Agents

Phase 3

Adrenergic Agonists

Phase 3

Adrenergic Agents

Phase 3

Anesthetics

Phase 3

Muscarinic Antagonists

Phase 3

Glycopyrrolate

Phase 3

596-51-0

3494

Synonyms:

(1,1-dimethylpyrrolidin-1-ium-3-yl) 2-cyclopentyl-2-hydroxy-2-phenylacetate

(1,1-dimethylpyrrolidin-1-ium-3-yl) 2-cyclopentyl-2-hydroxy-2-phenylacetate bromide

.beta.-1-Methyl-3-pyrrolidyl-.alpha.-cyclopentylmandelate methobromide

1,1-Dimethyl-3-hydroxypyrrolidinium bromide .alpha.-cyclopentylmandelate

1,1-Dimethyl-3-hydroxypyrrolidinium bromide alpha-cyclopentylmandelate

1-Methyl-3-pyrrolidinyl .alpha.-phenylcyclopentaneglycolate methobromide

1-Methyl-3-pyrrolidyl alpha-phenylcyclopentaneglycolate methobromide

3-(erythro-2-Cyclopentyl-2-hydroxy-2-phenylacetoxy)-1,1-dimethylpyrrolidiniumbromid

3-Hydroxy-1,1-dimethylpyrrolidinium bromide .alpha.-cyclopentylmandelate

3-Hydroxy-1,1-dimethylpyrrolidinium bromide alpha-cyclopentylmandelate

3-Hydroxy-1,1-dimethylpyrrolidinium bromide-.alpha.-cyclopentylmandelate

53808-86-9

596-51-0

AB00513912

AC-15990

AC1L1G28

AC1L1XX0

AC1LAW54

AC1Q1RGS

AC1Q60WT

AD-237

AHR 504

AHR-504

AR-1J1255

Asecryl

BPBio1_000806

Bromide, glycopyrronium

Bromure de glycopyrronium

Bromure de glycopyrronium [INN-French]

Bromure de ritropirronio

Bromure de ritropirronium

Bromuro de glicopirronio

Bromuro de glicopirronio [INN-Spanish]

BSPBio_000732

C19H28NO3

CHEMBL1201027

CHEMBL1201335

CID11693

CID3494

CID521843

Copyrrolate

CPD000469282

Cuvposa

D00540

DB00986

EINECS 209-887-0

Gastrodyn

Glycopyrrolate

GLYCOPYRROLATE

Glycopyrrolate (USP)

Glycopyrrolate [USAN]

Glycopyrrolate bromide

Glycopyrrolic acid

Glycopyrroni bromidum

Glycopyrronii bromidum

Glycopyrronii bromidum [INN-Latin]

Glycopyrronium

glycopyrronium bromide

Glycopyrronium bromide

Glycopyrronium bromide (JAN/INN)

HMS1570E14

HMS2051P12

HMS2094A05

I14-3643

L001045

LS-138344

Mandelic acid, .alpha.-cyclopentyl-, ester with 3-hydroxy-1,1-dimethylpyrrolidinium bromide

MLS001424112

MLS002222301

MolPort-002-885-831

NCGC00179456-01

Nodapton

NSC 250836

NSC 251251

NSC 251252

NSC250836

NSC251251

NSC251252

NVA 237

NVA-237

Prestwick0_000746

Prestwick1_000746

Prestwick2_000746

Prestwick3_000746

PT-001

Pyrrolidinium, 1,1-dimethyl-3-hydroxy-, bromide, alpha-cyclopentylmandelate

Pyrrolidinium, 3-((cyclopentylhydroxyphenylacetyl)oxy)-1,1-dimethyl-, bromide

Pyrrolidinium, 3-[(cyclopentylhydroxyphenylacetyl)oxy]-1,1-dimethyl-, bromide

Pyrrolidinium, 3-hydroxy-1,1-dimethyl-, bromide, .alpha.-cyclopentylmandelate

Pyrrolidinium, 3-hydroxy-1,1-dimethyl-, bromide, alpha-cyclopentylmandelate

Pyrrolidinium, 3-hydroxy-1,1-dimethyl-, bromide, alpha-cyclopentylmandelate (8CI)

Ritropirronium bromide

Ritropirronium bromide [INN]

Robanul

Robinal

Robinul

Robinul (TN)

ROBINUL FORTE

Salt*)

SAM001246629

SAM002589987

SMR000469282

SPBio_002671

ST51054976

Tarodyl

Tarodyn

UNII-V92SO9WP2I

WLN: T5KTJ A1 A1 COVXQR&- AL5TJ &Q &E

Methacholine Chloride

Phase 3

Norflurane

Approved, Experimental

Phase 2

811-97-2

Racepinephrine

Approved

Phase 1, Phase 2

329-65-7

838

Synonyms:

(+-)-Adrenaline

(+-)-Epinephrine

2-(Methylamino)-1-(3,4-dihydroxyphenyl)ethanol

Adrenaline hydrochloride, racemic mixture

Adrenaline, racemic

Adrenaline, racemic mixture

Bird brand OF racepinefrine hydrochloride

DL-Adrenaline

Epinephrine hydrochloride, racemic mixture

Epinephrine racemic

Epinephrine, racemic

Epinephrine, racemic mixture

Hydrochloride, racepinephrine

Micronefrin

Micronephrine

Mixture adrenaline, racemic

Mixture epinephrine, racemic

Racemic adrenaline

Racemic epinephrine

Racemic mixture adrenaline

Racemic mixture epinephrine

Racepinefrina

Racepinefrine

Racepinefrinum

Racepinephrine

Racepinephrine hydrochloride

Vaponefrin

Epinephrine

Approved, Vet_approved

Phase 1, Phase 2

51-43-4

5816

Synonyms:

(−)-(R)-epinephrine

(-)-(R)-Epinephrine

(-)-3,4-Dihydroxy-a-((methylamino)methyl)benzyl alcohol

(-)-3,4-Dihydroxy-a-[(methylamino)methyl]-benzyl alcohol

(-)-3,4-Dihydroxy-a-[2-(methylamino)ethyl]benzyl alcohol

(-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol

(-)-3,4-Dihydroxy-alpha-[(methylamino)methyl]-benzyl alcohol

(-)-3,4-Dihydroxy-alpha-[2-(methylamino)ethyl]benzyl alcohol

(−)-3,4-dihydroxy-α-((methylamino)methyl)benzyl alcohol

(-)-3,4-Dihydroxy-α-((methylamino)methyl)benzyl alcohol

(-)-Adrenalin

(−)-adrenaline

(-)-Adrenaline

(-)-Epinephrine

(-)-R-Epinephrine

(R)-(-)-Adnephrine

(R)-(−)-adrenaline

(R)-(-)-Adrenaline

(R)-(-)-Epinephrine

(R)-(-)-Epirenamine

(R)-4-[1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol

(R)-Adrenaline

(R)-Epinephrine

02252_FLUKA

1-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol

1-Adrenalin

1-Epinephrine

4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-benzenediol

4-(1-hydroxy-2-methylamino-ethyl)benzene-1,2-diol

4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol

4-[(1R)-1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol

51028-73-0

51-43-4

51-43-4 (FREE BASE)

A0173

AC-13188

AC1L1L7B

Acetate, epinephrine

Adnephrine

ADR ADRENALINE

Adrenal

Adrenalin

Adrenalin (TN)

Adrenalin in Oil

Adrenalina

Adrenalina [DCIT]

adrenaline

Adrenaline

Adrénaline

Adrenaline (JP15)

Adrenaline acid tartrate

Adrenaline bitartrate

Adrenaline hydrochloride

Adrenaline/Epinephrine

Adrenalin-Medihaler

Adrenalinum

Adrenamine

Adrenan

Adrenapax

Adrenasol

Adrenatrate

Adrenine

Adrenodis

Adrenohorma

Adrenosan

Adrenutol

Adrin

Adrine

ADROP

AI3-19015

Allergan brand OF adrenaline hydrochloride

Ana-Guard

Ana-kit

Antiasthmatique

Asmatane Mist

Asthma meter mist

Asthmahaler Mist

Asthmanefrin

Asthma-nefrin

Astmahalin

Astminhal

Auvi-Q

Balmadren

Bernarenin

BIDD:GT0119

Biorenine

bmse000316

Bosmin

Brevirenin

Bronkaid

Bronkaid mist

Bronkaid Mist

Bronkaid Suspension Mist

Bupivacaine Hcl and Epinephrine

C00788

CCRIS 4812

CHEBI:28918

Chelafrin

CHEMBL679

CID5816

Citanest Forte

Corisol

D00095

d-Adrenaline

DB00668

D-Epifrin

D-Epinephrine

Drenamist

Dylephrin

Dyspne-Inhal

E4250_SIGMA

EINECS 200-098-7

EPI E Z PEN JR

Epi EZ Pen Jr

Epifrin

Epiglaufrin

Epinefrin

Epinefrin [Czech]

Epinefrina

Epinefrina [INN-Spanish]

Epinephran

Epinephrin

epinephrine

Epinephrine

Epinephrine (USP)

Epinephrine (USP/INN)

Epinephrine [USAN:INN:JAN]

Epinephrine acetate

Epinephrine bitartrate

Epinephrine hydrochloride

Epinephrine hydrogen tartrate

Epinephrinum

Epinephrinum [INN-Latin]

Epipen

Epipen (TN)

Epipen Auto-Injector

EPIPEN E Z PEN

Epipen EZ Pen

Epipen JR

EPIPEN JR

Epipen Jr.

Epipen Jr. Auto-Injector

Epirenamine

Epirenan

Epirenin

Epitrate

Eppy

Esphygmogenina

Exadrin

Glaucon

Glaucosan

Glauposine

Glycirenan

Haemostasin

Haemostatin

Hektalin

Hemisine

Hemostasin

Hemostatin

HSCI1_000215

HSDB 4289

Hypernephrin

Hyporenin

Intranefrin

Iontocaine

IOP

Isoptoepinal

Kidoline

l-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol

L-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol

l-Adrenalin

l-Adrenaline

L-Adrenaline

L-Adrenaline Base

L-Epinehphrine

l-Epinephine

L-epinephrine

L-Epinephrine

l-Epinephrine (synthetic)

l-Epirenamine

L-Epirenamine

Levoadrenaline

Levoepinephrine

Levo-Methylaminoethanolcatechol

Levorenen

Levorenin

Levorenine

Levoreninum

l-Methylaminoethanolcatechol

L-Methylaminoethanolcatechol

Lopac-E-4642

LS-156

Lyodrin

Lyophrin

Medihaler-epi

Medihaler-Epi

Metanephrin

Methylaminoethanolcatechol

Methylarterenol

Micronefrin

Micronephrine

MolPort-002-051-368

Mucidrina

Myosthenine

Mytrate

NCGC00015417-01

NCGC00142615-01

NCGC00142615-03

NCGC00142615-04

NCGC00142615-05

NCGC00142615-06

NCGC00142615-07

nchembio747-comp9

Nephridine

Nieraline

NSC 62786

NSC62786

Paranephrin

PDSP1_001120

PDSP2_001104

Primatene

Primatene mist

Primatene Mist

R-(-)-Epinephrine

Racemic Epinephrine

Racepinephrine

R-Adrenaline

RCRA waste no. P042

Rcra waste number P042

Renagladin

Renaglandin

Renaglandulin

Renaleptine

Renalina

Renoform

Renostypricin

Renostypticin

Renostyptin

Scurenaline

Septocaine

Simplene

Sindrenina

SMP1_000227

Soladren

Sphygmogenin

ST069368

Stryptirenal

Styptirenal

Supracapsulin

Supradin

Supranefran

Supranephrane

Supranephrine

Supranol

Suprarenaline

Suprarenin

Suprel

Surenine

Surrenine

Susphrine

Sus-phrine

Sus-Phrine

SUS-PHRINE SULFITE-FREE

Sympathin I

Takamina

Takamine

Tokamina

Tonogen

Twinject

Twinject 0.15

Twinject 0.3

Twinject 0.30

UNII-YKH834O4BH

Vaponefrin

Vasoconstrictine

Vasoconstrictor

Vasodrine

Vasoton

Vasotonin

Adrenergic alpha-Agonists

Phase 1, Phase 2

Mydriatics

Phase 1, Phase 2

Sympathomimetics

Phase 1, Phase 2

Epinephryl borate

Phase 1, Phase 2

Vasoconstrictor Agents

Phase 1, Phase 2

Zinc oxide

Approved

1314-13-2

Fluticasone

Approved, Experimental

90566-53-3

62924

Synonyms:

90566-53-3

AC1NSJZT

AC-456

BIDD:GT0819

C07815

CHEMBL1201396

CID5311101

D07981

Fluticaps

Fluticaps (TN)

Fluticason

Fluticasona

fluticasone

Fluticasone

Fluticasone (INN)

Fluticasonum

MolPort-006-666-449

S-(fluoromethyl) (6S,8S,9R,10S,11S,13S,14S,16R,17R)-6,9-difluoro-11,17-dihydroxy-10,13,16-trimethyl-3-oxo-6,7,8,11,12,14,15,16-octahydrocyclopenta[a]phenanthrene-17-carbothioate

Dermatologic Agents

Anti-Allergic Agents

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

Sources

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

Sources

Anatomical Context for Cardiofaciocutaneous Syndrome 1

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 1:

⁴⁰

Heart, Skin, Bone, Eye, Tongue, Lung

Sources

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	Sarkozy A...Tartaglia M	19206169	2009
2	Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. ⁶ ⁵⁷ ²⁵	Rauen KA	16804887	2006
3	Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. ⁶ ²⁵ ⁵⁷	Rodriguez-Viciana P...Rauen KA	16439621	2006
4	Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. ⁶ ⁵⁷ ²⁵	Niihori T...Matsubara Y	16474404	2006
5	Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. ⁶ ⁵⁷ ⁶¹	Linden HC...Price SM	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	Gripp KW...Sol-Church K	17551924	2007
7	Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations. ⁵⁴ ²⁵ ⁶	Rauen KA...Lacassie Y	20358587	2010
8	Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. ⁶ ⁵⁷	Schulz AL...Zenker M	18042262	2008
9	The cardiofaciocutaneous syndrome. ⁵⁷ ²⁵ ⁶¹	Roberts A...Neri G	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	Estep AL...Rauen KA	16372351	2006
11	CFC syndrome: a syndrome distinct from Noonan syndrome. ⁶ ⁵⁷	Verloes A...Briard ML	3265306	1988
12	Two novel germline KRAS mutations: expanding the molecular and clinical phenotype. ⁶ ²⁵	Stark Z...Zenker M	21797849	2012
13	Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. ⁶ ²⁵	Zenker M...Kutsche K	17056636	2007
14	Germline KRAS mutations cause Noonan syndrome. ⁶ ²⁵	Schubbert S...Kratz CP	16474405	2006
15	Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. ⁶¹ ⁵⁴ ⁵⁷	Ion A...Jeffery S	12384786	2002
16	New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. ²⁵ ⁵⁷	Reynolds JF...Opitz JM	3789005	1986
17	A Noonan-like short stature syndrome with sparse hair. ²⁵ ⁵⁷	Baraitser M...Patton MA	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	Anastasaki C...Patton EE	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	Musante L...Kalscheuer VM	12634870	2003
20	CFC index for the diagnosis of cardiofaciocutaneous syndrome. ⁶¹ ⁵⁷	Kavamura MI...Brunoni D	12239713	2002
21	Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. ⁶¹ ⁵⁷	van Den Berg H...Hennekam RC	10528867	1999
22	Cardiofaciocutaneous syndrome with new ectodermal manifestations. ⁶¹ ⁵⁷	Turnpenny PD...Johnston AW	1619641	1992
23	New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome. ⁵⁷	Inoue S...Aoki Y	25035421	2014
24	Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis. ⁵⁷	Goodwin AF...Rauen KA	22946697	2013
25	Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes. ⁶	Cirstea IC...Ahmadian MR	23059812	2013
26	Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. ⁶¹ ²⁵	Ohtake A...Matsubara Y	20523244	2011
27	Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. ²⁵ ⁶¹	Siegel DH...Rauen KA	21062266	2011
28	No reason yet to change diagnostic criteria for Noonan, Costello and cardio-facio-cutaneous syndromes. ⁵⁷	Neri G...Kavamura MI	19047498	2008
29	Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. ⁵⁷	Nystrom AM...Bondeson ML	18456719	2008
30	The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. ⁶	Kerr B...Rauen KA	18386799	2008
31	Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations. ⁵⁷	Armour CM...Allanson JE	18039946	2008
32	Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. ⁶	Senawong T...Tetsu O	17981815	2008
33	Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene. ⁵⁴ ²⁵	Makita Y...Aoki Y	17483702	2007
34	Guilty as charged: B-RAF is a human oncogene. ⁵⁷	Garnett MJ...Marais R	15488754	2004
35	CFC syndrome. ⁵⁷	Neri G...Opitz JM	12522802	2003
36	Cardio-facio-cutaneous syndrome phenotype and del(12q). ⁵⁷	Rauen KA...Cotter PD	12522803	2003
37	Editor's note: regarding correspondence on CFC syndrome and interstitial 12q deletions. ⁵⁷	Carey JC	12522804	2003
38	Cardio-facio-cutaneous syndrome: first presentation in a 52-year-old woman. ⁵⁷	McGaughran J	12494447	2003
39	Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome? ⁵⁷	Rauen KA...Cotter PD	12116271	2002
40	Partial deletion of chromosome 12q is not usually associated with CFC syndrome. ⁵⁷	Zollino M...Neri G	11102944	2000
41	Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype. ⁵⁷	Grebe TA...Clericuzio C	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	Rauen KA...Golabi M	10925386	2000
43	Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family. ⁵⁷	Legius E...Fryns JP	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	Wieczorek D...Gillessen-Kaesbach G	9272711	1997
45	CFC syndrome: report of familial cases. ⁵⁷	Lecora M...Andria G	9147900	1996
46	Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation. ⁵⁷	Manoukian S...Neri G	8725790	1996
47	The cardio-facio-cutaneous (CFC) syndrome--two possible new cases and review of the literature. ⁵⁷	Krajewska-Walasek M...Jastrzbska M	8867662	1996
48	Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome. ⁵⁷	Leichtman LG	8867661	1996
49	The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome? ⁵⁷	Ward KA...McKeown C	7917994	1994
50	Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases. ⁵⁷	Ghezzi M...Strisciuglio P	1358488	1992

Sources

Genes for Cardiofaciocutaneous Syndrome 1

Genes related to Cardiofaciocutaneous Syndrome 1 (4 elite genes):

(show all 42)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1710.32	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Variants (show sections)	16474404 18651097 17366577 (more) 17551924 19376813 19206169 20052757 16569817 18470943 17661820 17483702 19096106 17211612
2	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	801.84	Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁸ Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Variants (show sections)	18042262 20052757 17211612 (more) 17661820 19376813 20358587
3	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	795.1	Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁸ Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Variants (show sections)	16474404 17551339 16569817
4	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	794.01	Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁸ Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	16439621 17981815 20052757 (more) 17211612 17551924 17661820 19376813 19915144 20358587
5	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	19.1	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	18651097 12384786 12529707 (more) 20052757 12752577 12634870
6	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	18.54	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	18651097 17366577 20052757 (more) 17483702 17661820 17324647 18470943 17875937 16921267 17211612
7	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	18.13	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	18651097 20052757
8	SHOC2	SHOC2 Leucine Rich Repeat Scaffold Protein	Protein Coding	8.37	DISEASES inferred ¹⁵
9	CFC1	Cripto, FRL-1, Cryptic Family 1	Protein Coding	7.5	DISEASES inferred ¹⁵
10	NF1	Neurofibromin 1	Protein Coding	7.37	DISEASES inferred ¹⁵
11	SPRED1	Sprouty Related EVH1 Domain Containing 1	Protein Coding	7.36	DISEASES inferred ¹⁵
12	A2ML1	Alpha-2-Macroglobulin Like 1	Protein Coding	6.92	DISEASES inferred ¹⁵
13	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	6.9	DISEASES inferred ¹⁵
14	RASA2	RAS P21 Protein Activator 2	Protein Coding	6.89	DISEASES inferred ¹⁵
15	LZTR1	Leucine Zipper Like Transcription Regulator 1	Protein Coding	6.69	DISEASES inferred ¹⁵
16	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	6.39	DISEASES inferred ¹⁵
17	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	6.38	DISEASES inferred ¹⁵
18	RRAS	RAS Related	Protein Coding	6.33	DISEASES inferred ¹⁵
19	ETFDH	Electron Transfer Flavoprotein Dehydrogenase	Protein Coding	6.32	DISEASES inferred ¹⁵
20	RASA1	RAS P21 Protein Activator 1	Protein Coding	6.23	DISEASES inferred ¹⁵
21	ERAS	ES Cell Expressed Ras	Protein Coding	6.06	DISEASES inferred ¹⁵
22	PDSS1	Decaprenyl Diphosphate Synthase Subunit 1	Protein Coding	6	DISEASES inferred ¹⁵
23	PPP1CB	Protein Phosphatase 1 Catalytic Subunit Beta	Protein Coding	5.98	DISEASES inferred ¹⁵
24	SPRY1	Sprouty RTK Signaling Antagonist 1	Protein Coding	5.91	DISEASES inferred ¹⁵
25	PDSS2	Decaprenyl Diphosphate Synthase Subunit 2	Protein Coding	5.88	DISEASES inferred ¹⁵
26	COQ8A	Coenzyme Q8A	Protein Coding	5.87	DISEASES inferred ¹⁵
27	APTX	Aprataxin	Protein Coding	5.86	DISEASES inferred ¹⁵
28	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	5.76	DISEASES inferred ¹⁵
29	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	5.74	DISEASES inferred ¹⁵
30	COQ2	Coenzyme Q2, Polyprenyltransferase	Protein Coding	5.71	DISEASES inferred ¹⁵
31	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	5.68	DISEASES inferred ¹⁵
32	MRAS	Muscle RAS Oncogene Homolog	Protein Coding	5.67	DISEASES inferred ¹⁵
33	RALGDS	Ral Guanine Nucleotide Dissociation Stimulator	Protein Coding	5.66	DISEASES inferred ¹⁵
34	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	5.51	DISEASES inferred ¹⁵
35	SPRED2	Sprouty Related EVH1 Domain Containing 2	Protein Coding	5.38	DISEASES inferred ¹⁵
36	SPRED3	Sprouty Related EVH1 Domain Containing 3	Protein Coding	5.35	DISEASES inferred ¹⁵
37	KAT6B	Lysine Acetyltransferase 6B	Protein Coding	5.19	DISEASES inferred ¹⁵
38	RIT1	Ras Like Without CAAX 1	Protein Coding	5.04	DISEASES inferred ¹⁵
39	KIAA0895	KIAA0895	Protein Coding	5.03	DISEASES inferred ¹⁵
40	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	4.98	DISEASES inferred ¹⁵
41	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	4.96	DISEASES inferred ¹⁵
42	MCF2	MCF.2 Cell Line Derived Transforming Sequence	Protein Coding	4.93	DISEASES inferred ¹⁵

Sources

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

Sources

Expression for Cardiofaciocutaneous Syndrome 1

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

Sources

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	Signaling by GPCR ⁶⁵ Show member pathways GPCR downstream signaling ⁶⁵ Signal Transduction ⁶⁵	14.36	SYNGAP1 SPRED1 SOS2 SOS1 RASA2 RASA1
2	Innate Immune System ⁶⁵ Show member pathways Immune System ⁶⁵ Neutrophil degranulation ⁶⁵	14.22	SYNGAP1 SPRED1 SOS1 RASA2 RASA1 RAF1
3	ERK Signaling ⁶³ Show member pathways ILK Signaling ⁶³ MAPK Signaling ⁶³ Molecular Mechanisms of Cancer ⁶³ Rho Family GTPases ⁶³	14.04	SYNGAP1 SOS2 SOS1 RRAS RASA1 RAF1
4	Apoptotic Pathways in Synovial Fibroblasts ⁶³ Show member pathways Actin-Based Motility by Rho Family GTPases ⁶³ Cellular Apoptosis Pathway ⁶³ DHA Signaling ⁶³ eIF2 Pathway ⁶³ ERK5 Signaling ⁶³ Glioma Invasiveness ⁶³ Mitochondrial Apoptosis ⁶³ Nuclear Receptor Activation by Vitamin-A ⁶³ p53 Mediated Apoptosis ⁶³ PPAR Pathway ⁶³ Rac1 Pathway ⁶³ Rap1 Pathway ⁶³ Telomerase Components in Cell Signaling ⁶³	13.97	SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
5	HIV Life Cycle ⁶⁵ Show member pathways 2-LTR circle formation ⁶⁵ APOBEC3G mediated resistance to HIV-1 infection ⁶⁵ Assembly Of The HIV Virion ⁶⁵ Binding and entry of HIV virion ⁶⁵ Disease ⁶⁵ Diseases of signal transduction ⁶⁵ Early Phase of HIV Life Cycle ⁶⁵ HIV Infection ⁶⁵ Host Interactions of HIV factors ⁶⁵ Infectious disease ⁶⁵ Integration of provirus ⁶⁵ Late Phase of HIV Life Cycle ⁶⁵	13.94	SYNGAP1 SOS1 RASA2 RASA1 RAF1 PTPN11
6	GPCR Pathway ⁶³ Show member pathways Breast Cancer Regulation by Stathmin1 ⁶³ Estrogen Pathway ⁶³ NFAT in Immune Response ⁶³ P2Y Receptor Signaling ⁶³ Pancreatic Adenocarcinoma ⁶³ Paxillin Interactions ⁶³ Ras Pathway ⁶³	13.86	SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
7	PEDF Induced Signaling ⁶³ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶³ Cytokine-cytokine receptor interaction ³⁶ Endothelin-1 Signaling Pathway ⁶³ Glucocorticoid Receptor Signaling ⁶³ IL-6 Pathway ⁶³ MIF Mediated Glucocorticoid Regulation ⁶³ MIF Regulation of Innate Immune Cells ⁶³ NFAT Signaling and Lymphocyte Interactions ⁶³ PGC1Alpha Pathway ⁶³ RAR-Gamma-RXR-Alpha Degradation ⁶³ STAT3 Pathway ⁶³	13.83	SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
8	TGF-Beta Pathway ⁶³ Show member pathways JAK-STAT Pathway ⁶³ JNK Pathway ⁶³ MAPK Family Pathway ⁶³ Regulation of eIF4 and p70S6K ⁶³ SOCS Pathway ⁶³	13.75	SOS2 SOS1 RRAS RAF1 PTPN11 MAP2K2
9	Activation of cAMP-Dependent PKA ⁶³ Show member pathways Activation of PKA through GPCR ⁶³ cAMP Pathway ⁶³ PKA Signaling ⁶³	13.73	SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
10	Integrin Pathway ⁶³ Show member pathways FAK1 Signaling ⁶³ GnRH Signaling ⁶³ Inhibition of Angiogenesis by TSP1 ⁶³ Transendothelial Migration of Leukocytes ⁶³ UPA-UPAR Pathway ⁶³	13.64	SOS2 SOS1 RRAS RASA2 RAF1 MAP2K2
11	Developmental Biology ⁶⁵ Show member pathways Axon guidance ⁶⁵	13.61	SYNGAP1 SPRED1 SOS2 SOS1 RRAS RASA2
12	Cytokine Signaling in Immune system ⁶⁵ Show member pathways Signaling by Interleukins ⁶⁵	13.6	SYNGAP1 SPRED1 SOS1 RASA2 RASA1 RAF1
13	CREB Pathway ⁶³ Show member pathways Activation of PKC through GPCR ⁶³ Intracellular Calcium Signaling ⁶³ IP3 Pathway ⁶³	13.51	SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
14	Nanog in Mammalian ESC Pluripotency ⁶³ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶³ eNOS Signaling ⁶³ GSK3 Signaling ⁶³	13.5	SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
15	IL-2 Pathway ⁶³ Show member pathways ErbB Family Pathway ⁶³ ErbB2-ErbB3 Heterodimers ⁶³ ErbB4 Pathway ⁶³ Growth Hormone Signaling ⁶³ HMGB1 Pathway ⁶³ IL-4 Pathway ⁶³ LPS Stimulated MAPK Signaling ⁶³ PACAP Signaling ⁶³ PI3K Signaling in B-Lymphocyte ⁶³ Prolactin Signaling ⁶³ Thrombopoietin Pathway ⁶³ TREM1 Pathway ⁶³ UVC-Induced MAPK Signaling ⁶³	13.47	SYNGAP1 SOS2 SOS1 RRAS RASA2 RASA1
16	Phospholipase-C Pathway ⁶³ Show member pathways PTEN Pathway ⁶³	13.33	SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
17	Toll-like Receptor Signaling Pathway ³⁶ ¹ Show member pathways Chagas disease ³⁶ Hepatitis B ³⁶ Hepatitis C ³⁶ Regulation of toll-like receptor signaling pathway ¹	13.29	SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
18	p70S6K Signaling ⁶³ Show member pathways mTOR Pathway ⁶³ Renin-Angiotensin Pathway ⁶³	13.29	SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
19	G-Beta Gamma Signaling ⁶³ Show member pathways CRHR Pathway ⁶³ GHRH Signaling ⁶³ Hedgehog Signaling in Mammals ⁶³ Relaxin Pathway ⁶³ Signaling in Gap Junctions ⁶³	13.29	SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
20	fMLP Pathway ⁶³ Show member pathways Alpha-Adrenergic Signaling ⁶³ CCR3 Pathway in Eosinophils ⁶³ CXCR4 Pathway ⁶³ Huntington's Disease Pathway ⁶³ Internalin Pathway ⁶³ Signal transduction Activation of PKC via G-Protein coupled receptor ²³ VEGF and S-1P Signaling ⁶³	13.27	SOS2 SOS1 RRAS RASA1 RAF1 MAP2K2
21	TNFR1 Pathway ⁶³ Show member pathways Apoptosis and survival TNFR1 signaling pathway ²³ Apoptosis through Death Receptors ⁶³ Apoptotic Pathways Triggered By HIV1 ⁶³ Death Receptor Signaling ⁶⁶ DR3 Signaling ⁶³ Fas Signaling ⁶³ GITR Pathway ⁶³ HIV-1 Nef- Negative effector of Fas and TNF-alpha ¹ Stimulation of the cell death response by PAK-2p34 ⁶⁵ TNF alpha Signaling Pathway ¹ TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway ¹ TNF Signaling ⁶³ TNF Signaling ⁶⁶ TRAIL Pathway ⁶³ TWEAK Pathway ⁶³	13.25	SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
22	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	13.2	SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
23	TCR Signaling (Qiagen) ⁶³ Show member pathways Fc-EpsilonRI Pathway ⁶³ PDGF Pathway ⁶³ PKC-Theta Pathway ⁶³ TCR Signaling ⁶³	13.19	SOS2 SOS1 RRAS RASA1 RAF1 MAP2K2
24	Regulation of lipid metabolism Insulin signaling-generic cascades ²³ Show member pathways acetyl-CoA biosynthesis from citrate ¹ Butyrate-induced histone acetylation ¹ Cell adhesion PLAU signaling ²³ Class IB PI3K non-lipid kinase events ¹ Development CNTF receptor signaling ²³ Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²³ ErbB2/ErbB3 signaling events ¹ Glucose Homeostasis ¹ Insulin signaling pathway ³⁶ IRS activation ⁶⁵ Signal attenuation ⁶⁵ Transcription Receptor-mediated HIF regulation ²³ Translation Regulation of EIF2 activity ²³ Translation Regulation of EIF4F activity ²³ Translation Insulin regulation of translation ²³	13.18	SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
25	Focal Adhesion ³⁶ ¹ Show member pathways HGF Pathway ⁶³ Integrin-mediated Cell Adhesion ¹	13.17	SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
26	Human cytomegalovirus infection ³⁶ Show member pathways Human immunodeficiency virus 1 infection ³⁶ Kaposi sarcoma-associated herpesvirus infection ³⁶	13.16	SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
27	Sertoli-Sertoli Cell Junction Dynamics ⁶³ Show member pathways Epithelial Tight Junctions ⁶³ Germ Cell-Sertoli Cell Junction Dynamics ⁶³	13.14	RRAS RAF1 MAP2K2 MAP2K1 KRAS HRAS
28	CCR5 Pathway in Macrophages ⁶³ Show member pathways Androgen Signaling ⁶³ Chemokine Signaling ⁶³ Chemokine signaling pathway ³⁶	13.14	SOS2 SOS1 RRAS RAF1 MAP2K1 KRAS
29	Endometrial cancer ³⁶ Show member pathways Acute myeloid leukemia ³⁶ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁵ Chronic myeloid leukemia ³⁶ Colorectal cancer ³⁶ Pancreatic cancer ³⁶ Prostate cancer ³⁶ Signal transduction PTEN pathway ²³ Thyroid cancer ³⁶	13.14	SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
30	NFAT and Cardiac Hypertrophy ⁶³ Show member pathways IGF1R Signaling ⁶³ Signaling Involved in Cardiac Hypertrophy ⁶³	13.14	SOS2 SOS1 RRAS RASA1 RAF1 MAP2K2
31	Pathways in cancer ³⁶	13.11	SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
32	Development Angiotensin activation of ERK ²³ Show member pathways Cell adhesion Integrin inside-out signaling ²³ Development ACM2 and ACM4 activation of ERK ²³ Development Angiotensin signaling via PYK2 ²³ Development EDNRB signaling ²³ Development EPO-induced MAPK pathway ²³ Development G-Proteins mediated regulation MARK-ERK signaling ²³ Signal transduction IP3 signaling ²³	13.11	SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
33	Beta-Adrenergic Signaling ⁶³ Show member pathways CDK5 Pathway ⁶³ Erythropoietin Pathway ⁶³ Insulin Receptor Pathway ⁶³	13.09	SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
34	Aldosterone synthesis and secretion ³⁶ Show member pathways Ca2+ activated K+ channels ⁶⁵ Cortisol synthesis and secretion ³⁶ Cushing syndrome ³⁶ Insulin secretion ³⁶ Melanogenesis ³⁶ Thyroid hormone synthesis ³⁶	13.08	RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
35	Common Cytokine Receptor Gamma-Chain Family Signaling Pathways ⁶⁴ Show member pathways Adipokines and Insulin Signaling Pathways ⁶⁴ Development Thrombopoietin-regulated cell processes ²³ IL-15 Signaling Pathways ⁶⁴ IL-2 Signaling Pathways ⁶⁴ IL-21 Signaling Pathways ⁶⁴ IL-4 Signaling Pathways ⁶⁴ IL-7 Signaling Pathways ⁶⁴ IL-9 Pathway ⁶³ IL-9 Signaling Pathways ⁶⁴ Immune response IL-9 signaling pathway ²³	13.06	SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
36	Gastric cancer ³⁶ Show member pathways Breast cancer ³⁶ Hepatocellular carcinoma ³⁶	13.03	SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
37	Development HGF signaling pathway ²³ Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²³ Apoptosis and survival NGF signaling pathway ²³ Apoptosis and survival Role of CDK5 in neuronal death and survival ²³ Development Neurotrophin family signaling ²³ MET activates PTPN11 ⁶⁵ MET activates STAT3 ⁶⁵ Neurotrophin signaling pathway ³⁶ Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) ¹ Signaling of Hepatocyte Growth Factor Receptor ¹	12.99	SOS2 SOS1 RASA1 RAF1 PTPN11 MAP2K2
38	Glioma ³⁶ Show member pathways Endocrine resistance ³⁶ Melanoma ³⁶ Non-small cell lung cancer ³⁶ Signaling Pathways in Glioblastoma ¹	12.97	SOS2 SOS1 RAF1 NF1 MAP2K2 MAP2K1
39	G-AlphaQ Signaling ⁶³ Show member pathways G-AlphaI Signaling ⁶³ Thrombin Signaling ⁶³	12.96	SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
40	Salmonella infection (KEGG) ³⁶ Show member pathways Salmonella infection ³⁶	12.95	RRAS RAF1 PTPN11 MAP2K2 MAP2K1 HRAS
41	MAPK signaling pathway ³⁶ ¹	12.95	SOS2 SOS1 RRAS RASA2 RASA1 RAF1
42	Toll-Like receptor Signaling Pathways ⁶⁴ Show member pathways IL-1 Family Signaling Pathways ⁶⁴ Immune response IL-1 signaling pathway ²³ Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway ²³ Inflammasome Activation Pathways ⁶⁴ Mucin expression in CF via TLRs, EGFR signaling pathways ²³ NOD-like Receptor Signaling Pathways ⁶⁴	12.93	SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
43	Relaxin signaling pathway ³⁶ Show member pathways Estrogen signaling pathway ³⁶ Growth hormone synthesis, secretion and action ³⁶ Relaxin receptors ⁶⁵	12.93	SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
44	4-1BB Pathway ⁶³ Show member pathways CD27 Pathway ⁶³ CD40 Signaling ⁶³ CMV and MAPK Pathways ⁶³ NF-KappaB Activation by EBV ⁶³ NF-kappaB Activation by Viruses ⁶³ PKR Pathway ⁶³ SUMO Pathway ⁶³ TNFR2 Pathway ⁶³	12.93	RRAS RAF1 MAP2K2 MAP2K1 KRAS HRAS
45	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶³ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶³ Cholera Infection ⁶³	12.92	SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
46	Regulation of actin cytoskeleton ³⁶ ¹	12.92	SOS2 SOS1 RRAS RAF1 MAP2K2 MAP2K1
47	Development Endothelin-1/EDNRA signaling ²³ Show member pathways Cytoskeleton remodeling FAK signaling ²³ Development Endothelin-1/EDNRA transactivation of EGFR ²³ GnRH signaling pathway ³⁶ Inflammatory mediator regulation of TRP channels ³⁶	12.91	SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
48	T cell receptor signaling pathway ³⁶ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁶ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.89	SOS2 SOS1 RRAS RAF1 PTPN11 MAP2K2
49	ErbB signaling pathway ³⁶ ¹ Show member pathways EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ³⁶ Renal cell carcinoma ³⁶ TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer ¹	12.89	SOS2 SOS1 RRAS RAF1 PTPN11 NF1
50	Immune response Fc epsilon RI pathway ²³ Show member pathways Fc epsilon RI signaling pathway ³⁶ Fc-epsilon receptor I signaling in mast cells ¹ Immune response BCR pathway ²³ VEGF signaling pathway ³⁶	12.87	SOS2 SOS1 RASA1 RAF1 PTPN11 MAP2K2

Sources

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

Sources for Cardiofaciocutaneous Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Cardiofaciocutaneous Syndrome 1 (CFC1)

Aliases & Classifications for Cardiofaciocutaneous Syndrome 1

MalaCards integrated aliases for Cardiofaciocutaneous Syndrome 1:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

GeneReviews:

Classifications:

External Ids:

Summaries for Cardiofaciocutaneous Syndrome 1

Related Diseases for Cardiofaciocutaneous Syndrome 1

Diseases in the Cardiofaciocutaneous Syndrome 1 family:

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

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

Symptoms & Phenotypes for Cardiofaciocutaneous Syndrome 1

Human phenotypes related to Cardiofaciocutaneous Syndrome 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome 1:

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome 1

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

Interventional clinical trials:

Genetic Tests for Cardiofaciocutaneous Syndrome 1

Genetic tests related to Cardiofaciocutaneous Syndrome 1:

Anatomical Context for Cardiofaciocutaneous Syndrome 1

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 1:

Publications for Cardiofaciocutaneous Syndrome 1

Articles related to Cardiofaciocutaneous Syndrome 1:

Genes for Cardiofaciocutaneous Syndrome 1

Genes related to Cardiofaciocutaneous Syndrome 1 (4 elite genes):

Variations for Cardiofaciocutaneous Syndrome 1

ClinVar genetic disease variations for Cardiofaciocutaneous Syndrome 1:

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

Expression for Cardiofaciocutaneous Syndrome 1

Pathways for Cardiofaciocutaneous Syndrome 1

Pathways related to Cardiofaciocutaneous Syndrome 1 according to KEGG:

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

GO Terms for Cardiofaciocutaneous Syndrome 1

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

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

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

Sources for Cardiofaciocutaneous Syndrome 1