MCID: CRD013
MIFTS: 74

Cardiofaciocutaneous Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases, Cardiovascular diseases categories

Summaries for Cardiofaciocutaneous Syndrome

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OMIM:47 Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial... (115150) more...

MalaCards based summary: Cardiofaciocutaneous Syndrome, also known as cfc syndrome, is related to costello syndrome and leukemia, and has symptoms including long face, coarse facial features and full cheeks. An important gene associated with Cardiofaciocutaneous Syndrome is BRAF (v-raf murine sarcoma viral oncogene homolog B), and among its related pathways are Sorafenib Pharmacodynamics and mTOR Pathway. The compounds gdc 0879 and l-779,450 have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and testes, and related mouse phenotypes are liver/biliary system and respiratory system.

Disease Ontology:10 A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is caused by mutation in the braf, map2k1, map2kk2 and kras genes.

NIH Rare Diseases:43 Cardiofaciocutaneous (cfc) syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), face (facio-), and the skin and hair (cutaneous). people with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. 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 in infancy. this condition is caused by mutations in the braf, map2k1, or map2k2 gene. cfc syndrome is an autosomal dominant condition; but all reported cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family. last updated: 11/7/2011

Genetics Home Reference:23 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.

Wikipedia:65 Cardiofaciocutaneous Syndrome (CFC) is an extremely rare and serious genetic disorder. more...

GeneReviews summary for cfc

Aliases & Classifications for Cardiofaciocutaneous Syndrome

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Cardiofaciocutaneous Syndrome, Aliases & Descriptions:

Name: Cardiofaciocutaneous Syndrome 47 10 11 21 43 22 23 49
Cfc Syndrome 10 21 43 23 45 49
Cardio-Facio-Cutaneous Syndrome 43 23 24 62
 
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities and Growth Failure 43
Cardio-Facial-Cutaneous Syndrome 10


Classifications:



Characteristics (Orphanet epidemiological data):

49
cardiofaciocutaneous syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: Antenatal,Neonatal; Age of death: any age


External Ids:

OMIM47 115150
Disease Ontology10 DOID:0060233
Orphanet49 1340
MESH via Orphanet36 C535579
ICD10 via Orphanet28 Q87.8
UMLS via Orphanet63 C1275081

Related Diseases for Cardiofaciocutaneous Syndrome

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Diseases in the Cardiofaciocutaneous Syndrome family:

Cardiofaciocutaneous Syndrome 2 Cardiofaciocutaneous Syndrome 3
Cardiofaciocutaneous Syndrome 4 Braf-Related Cardiofaciocutaneous Syndrome
Map2k1-Related Cardiofaciocutaneous Syndrome Kras-Related Cardiofaciocutaneous Syndrome
Map2k2-Related Cardiofaciocutaneous Syndrome

Diseases related to Cardiofaciocutaneous Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1costello syndrome30.2HRAS, KRAS, MAP2K1, MAP2K2, BRAF, SOS1
2leukemia30.1PTPN11, MAP2K1, RAF1, KRAS, HRAS
3cardiofaciocutaneous syndrome 310.4
4hyperprolactinemia10.4
5hemangioma10.4
6retinitis pigmentosa10.4
7status epilepticus10.4
8hepatoblastoma10.4
9growth hormone deficiency10.4
10precocious puberty10.4
11cardiofaciocutaneous syndrome 210.3
12cardiofaciocutaneous syndrome 410.3
13neuropathy10.2
14peripheral neuropathy10.2
15noonan/ costello/ leopard/ cardiofaciocutaneous syndrome multi-gene panels10.2
16braf-related cardiofaciocutaneous syndrome10.2
17map2k1-related cardiofaciocutaneous syndrome10.2
18kras-related cardiofaciocutaneous syndrome10.2
19map2k2-related cardiofaciocutaneous syndrome10.2
20tetralogy of fallot10.1
21woolly hair, autosomal dominant10.1
22hypotrichosis 810.1
23hodgkin lymphoma10.1
24hypertrophic cardiomyopathy10.1
25retinitis10.1
26leopard syndrome 110.1PTPN11
27neurofibromatosis-noonan syndrome10.0PTPN11
28cystadenoma10.0KRAS, BRAF
29lynch syndrome10.0BRAF, KRAS
30yellow fever10.0RAF1, KRAS
31spitz nevus10.0BRAF, HRAS
32dengue disease10.0KRAS, RAF1
33anthrax disease10.0BRAF, MAP2K2, MAP2K1
34nodular goiter10.0HRAS, BRAF
35endometrial cancer10.0KRAS, BRAF
36thyroid adenoma10.0BRAF, RAF1
37exanthem10.0HRAS, KRAS
38gallbladder cancer10.0KRAS, HRAS
39large cell carcinoma10.0HRAS, KRAS
40polycystic kidney disease, autosomal dominant10.0BRAF, RAF1
41medullary thyroid carcinoma, familial10.0RAF1, BRAF
42factor vii deficiency10.0RAF1, KRAS
43cholangiocarcinoma10.0KRAS, RAF1, BRAF
44pulmonary valve stenosis10.0PTPN11, SOS1
45pancreatic cancer10.0KRAS, RAF1, MAP2K1
46thyroid carcinoma, papillary10.0BRAF, RAF1, HRAS
47skin benign neoplasm10.0BRAF, HRAS
48leukemia, juvenile myelomonocytic10.0PTPN11, KRAS, HRAS
49neurofibromatosis10.0HRAS, KRAS, PTPN11
50acute erythroid leukemia10.0HRAS, RAF1, MAP2K1

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



Diseases related to cardiofaciocutaneous syndrome

Symptoms for Cardiofaciocutaneous Syndrome

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Symptoms by clinical synopsis from OMIM:

115150

Clinical features from OMIM:

115150

Symptoms:

 49 (show all 78)
  • coarse face
  • broad cheeks/cherub-like/cherubin face
  • long face
  • flat supraorbital ridge
  • anomalies of eyes and vision
  • absent/decreased/thin eyebrows
  • anomalies of eyelids, eyelashes and lacrimal system
  • euryblepharon/wide palpebral fissures
  • anteverted nares/nostrils
  • helix thickened/sculpted
  • palmoplantar hyperkeratosis/keratoderma
  • hairy patch
  • rippled skin
  • dry/squaly skin/exfoliation
  • fine hair
  • brittle hair/distrix/trichorrhexis
  • cardiac valvulopathy
  • congenital cardiac anomaly/malformation/cardiopathy
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • atrial septal defect/interauricular communication
  • hypotonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • frontal bossing/prominent forehead
  • high forehead
  • narrow forehead
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • flat cheek bones/malar hypoplasia
  • myopia
  • strabismus/squint
  • nystagmus
  • ptosis
  • epicanthic folds
  • absent/decreased lashes
  • short/small nose
  • depressed nasal bridge
  • long philtrum
  • high vaulted/narrow palate
  • low set ears/posteriorly rotated ears
  • long/large ear
  • short neck
  • webbed neck/pterygium colli
  • pectus excavatum
  • scoliosis
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • deep palmar creases
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • ichthyosis/ichthyosiform dermatitis
  • hyperelastic skin/cutaneous hyperlaxity
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • cafe-au-lait spot
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • slow growth of the hair
  • low hair line (back)
  • dysplastic/thick/grooved fingernails
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • eeg anomalies
  • prematurity
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • cubitus valgus
  • genu valgum
  • loose skin/skin relaxation/excess skin/creases
  • structural anomalies of the digestive tract
  • functional anomalies of the digestive system
  • cardiomyopathy/hypertrophic/dilated
  • lymphedema
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • late puberty/hypogonadism/hypogenitalism
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • hydrocephaly
  • elocution disorders/dysarthria/dysphonia

HPO human phenotypes related to Cardiofaciocutaneous Syndrome:

(show all 140)
id Description Frequency HPO Source Accession
1 long face hallmark (90%) HP:0000276
2 coarse facial features hallmark (90%) HP:0000280
3 full cheeks hallmark (90%) HP:0000293
4 thickened helices hallmark (90%) HP:0000391
5 anteverted nares hallmark (90%) HP:0000463
6 long palpebral fissure hallmark (90%) HP:0000637
7 dry skin hallmark (90%) HP:0000958
8 palmoplantar keratoderma hallmark (90%) HP:0000982
9 hypertrichosis hallmark (90%) HP:0000998
10 muscular hypotonia hallmark (90%) HP:0001252
11 defect in the atrial septum hallmark (90%) HP:0001631
12 abnormality of the heart valves hallmark (90%) HP:0001654
13 neurological speech impairment hallmark (90%) HP:0002167
14 fine hair hallmark (90%) HP:0002213
15 short stature hallmark (90%) HP:0004322
16 abnormality of the pulmonary artery hallmark (90%) HP:0004414
17 underdeveloped supraorbital ridges hallmark (90%) HP:0009891
18 cognitive impairment hallmark (90%) HP:0100543
19 aplasia/hypoplasia of the eyebrow hallmark (90%) HP:0100840
20 cryptorchidism typical (50%) HP:0000028
21 macrocephaly typical (50%) HP:0000256
22 epicanthus typical (50%) HP:0000286
23 hypertelorism typical (50%) HP:0000316
24 narrow forehead typical (50%) HP:0000341
25 long philtrum typical (50%) HP:0000343
26 high forehead typical (50%) HP:0000348
27 low-set, posteriorly rotated ears typical (50%) HP:0000368
28 macrotia typical (50%) HP:0000400
29 webbed neck typical (50%) HP:0000465
30 short neck typical (50%) HP:0000470
31 strabismus typical (50%) HP:0000486
32 downslanted palpebral fissures typical (50%) HP:0000494
33 abnormality of the eyelashes typical (50%) HP:0000499
34 ptosis typical (50%) HP:0000508
35 myopia typical (50%) HP:0000545
36 nystagmus typical (50%) HP:0000639
37 pectus excavatum typical (50%) HP:0000767
38 cafe-au-lait spot typical (50%) HP:0000957
39 hyperextensible skin typical (50%) HP:0000974
40 abnormality of the fingernails typical (50%) HP:0001231
41 premature birth typical (50%) HP:0001622
42 frontal bossing typical (50%) HP:0002007
43 low posterior hairline typical (50%) HP:0002162
44 slow-growing hair typical (50%) HP:0002217
45 eeg abnormality typical (50%) HP:0002353
46 scoliosis typical (50%) HP:0002650
47 abnormality of the ulna typical (50%) HP:0002997
48 short nose typical (50%) HP:0003196
49 depressed nasal bridge typical (50%) HP:0005280
50 deep palmar crease typical (50%) HP:0006191
51 generalized hyperpigmentation typical (50%) HP:0007440
52 ichthyosis typical (50%) HP:0008064
53 cheekbone underdevelopment typical (50%) HP:0010669
54 cleft palate occasional (7.5%) HP:0000175
55 hydrocephalus occasional (7.5%) HP:0000238
56 optic atrophy occasional (7.5%) HP:0000648
57 cutis laxa occasional (7.5%) HP:0000973
58 lymphedema occasional (7.5%) HP:0001004
59 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
60 abnormality of the abdominal organs occasional (7.5%) HP:0002012
61 cerebral cortical atrophy occasional (7.5%) HP:0002120
62 neurological speech impairment occasional (7.5%) HP:0002167
63 genu valgum occasional (7.5%) HP:0002857
64 cubitus valgus occasional (7.5%) HP:0002967
65 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
66 peripheral axonal neuropathy rare (5%) HP:0003477
67 autosomal dominant inheritance HP:0000006
68 hydronephrosis HP:0000126
69 submucous cleft hard palate HP:0000176
70 open mouth HP:0000194
71 high palate HP:0000218
72 hydrocephalus HP:0000238
73 dolichocephaly HP:0000268
74 coarse facial features HP:0000280
75 epicanthus HP:0000286
76 hypertelorism HP:0000316
77 narrow forehead HP:0000341
78 micrognathia HP:0000347
79 posteriorly rotated ears HP:0000358
80 hearing impairment HP:0000365
81 low-set ears HP:0000369
82 bulbous nose HP:0000414
83 anteverted nares HP:0000463
84 strabismus HP:0000486
85 downslanted palpebral fissures HP:0000494
86 ptosis HP:0000508
87 proptosis HP:0000520
88 progressive visual loss HP:0000529
89 myopia HP:0000545
90 absent eyelashes HP:0000561
91 nystagmus HP:0000639
92 oculomotor apraxia HP:0000657
93 dental malocclusion HP:0000689
94 pectus excavatum HP:0000767
95 pectus carinatum HP:0000768
96 osteopenia HP:0000938
97 hyperkeratosis HP:0000962
98 multiple lentigines HP:0001003
99 atopic dermatitis HP:0001047
100 cavernous hemangioma HP:0001048
101 optic nerve dysplasia HP:0001093
102 hyperextensibility of the finger joints HP:0001187
103 intellectual disability HP:0001249
104 seizures HP:0001250
105 muscular hypotonia HP:0001252
106 hypertonia HP:0001276
107 failure to thrive HP:0001508
108 polyhydramnios HP:0001561
109 premature birth HP:0001622
110 defect in the atrial septum HP:0001631
111 hypertrophic cardiomyopathy HP:0001639
112 pulmonic stenosis HP:0001642
113 splenomegaly HP:0001744
114 deep philtrum HP:0002002
115 vomiting HP:0002013
116 constipation HP:0002019
117 gastroesophageal reflux HP:0002020
118 cerebral cortical atrophy HP:0002120
119 curly hair HP:0002212
120 slow-growing hair HP:0002217
121 absent eyebrow HP:0002223
122 delayed skeletal maturation HP:0002750
123 short nose HP:0003196
124 congenital onset HP:0003577
125 clinodactyly of the 5th finger HP:0004209
126 short stature HP:0004322
127 relative macrocephaly HP:0004482
128 depressed nasal bridge HP:0005280
129 multiple palmar creases HP:0006114
130 hypoplasia of the frontal lobes HP:0007333
131 aplasia/hypoplasia of the corpus callosum HP:0007370
132 ichthyosis HP:0008064
133 sparse hair HP:0008070
134 multiple plantar creases HP:0008113
135 feeding difficulties in infancy HP:0008872
136 underdeveloped supraorbital ridges HP:0009891
137 anterior creases of earlobe HP:0009908
138 open bite HP:0010807
139 prominent forehead HP:0011220
140 tongue thrusting HP:0100703

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome

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Drug clinical trials:

Search ClinicalTrials for Cardiofaciocutaneous Syndrome

Search NIH Clinical Center for Cardiofaciocutaneous Syndrome

Genetic Tests for Cardiofaciocutaneous Syndrome

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Genetic tests related to Cardiofaciocutaneous Syndrome:

id Genetic test Affiliating Genes
1 Cardiofaciocutaneous Syndrome22 MAP2K2
2 Cardio-Facio-Cutaneous Syndrome24

Anatomical Context for Cardiofaciocutaneous Syndrome

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MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome:

33
Skin, Heart, Testes, Eye, Bone, Tongue

Animal Models for Cardiofaciocutaneous Syndrome or affiliated genes

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Publications for Cardiofaciocutaneous Syndrome

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Articles related to Cardiofaciocutaneous Syndrome:

(show all 30)
idTitleAuthorsYear
1
Clinicopathologic evaluation of cardiofaciocutaneous syndrome: overcoming the challenges of diagnosing a rare genodermatosis. (25514835)
2015
2
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation. (25487361)
2015
3
Anesthesia for a pediatric patient with cardiofaciocutaneous syndrome. (25827862)
2015
4
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. (25346259)
2014
5
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. (25250515)
2014
6
The perinatal presentation of cardiofaciocutaneous syndrome. (24719372)
2014
7
Cardiofaciocutaneous syndrome. (24600094)
2013
8
My memories of Professor Giovanni Neri: the cardiofaciocutaneous syndrome (CFC). (24166813)
2013
9
Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation. (24303953)
2013
10
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review. (24283439)
2013
11
Cardiofaciocutaneous syndrome: a rare entity. (22837569)
2012
12
Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. (21178588)
2011
13
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. (21062266)
2011
14
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. (20523244)
2011
15
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. (20186801)
2010
16
Eccrine squamous metaplasia and periadnexal granulomas: new cutaneous histopathologic findings in cardiofaciocutaneous syndrome. (19804494)
2010
17
Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts. (20518782)
2010
18
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. (19206169)
2009
19
Tetralogy of Fallot and hypertrophic cardiomyopathy in a case of cardiofaciocutaneous syndrome. (18773675)
2008
20
The cardiofaciocutaneous syndrome: prenatal findings in two patients. (18022830)
2008
21
Peripheral neuropathy in cardiofaciocutaneous syndrome. (17437909)
2007
22
The cardiofaciocutaneous syndrome. (16825433)
2006
23
Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. (16007634)
2005
24
Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature. (15096145)
2004
25
CFC index for the diagnosis of cardiofaciocutaneous syndrome. (12239713)
2002
26
Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. (10528867)
1999
27
Cardiofaciocutaneous syndrome. (8420490)
1993
28
Retinal dystrophy in the cardiofaciocutaneous syndrome. (8410580)
1993
29
Cardiofaciocutaneous Syndrome (20301365)
1993
30
Cardiofaciocutaneous syndrome with new ectodermal manifestations. (1619641)
1992

Variations for Cardiofaciocutaneous Syndrome

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

64 (show all 24)
id Symbol AA change Variation ID SNP ID
1BRAFp.Gly469GluVAR_018621
2BRAFp.Phe595LeuVAR_018625
3BRAFp.Ala246ProVAR_026113
4BRAFp.Gln257ArgVAR_026114
5BRAFp.Leu485PheVAR_026115
6BRAFp.Lys499GluVAR_026116
7BRAFp.Glu501GlyVAR_026117
8BRAFp.Glu501LysVAR_026118
9BRAFp.Asn581AspVAR_026119
10BRAFp.Ser467AlaVAR_035096
11BRAFp.Phe468SerVAR_035097
12BRAFp.Gly596ValVAR_035098
13BRAFp.Thr241ProVAR_058621
14BRAFp.Leu245PheVAR_058623
15BRAFp.Glu275LysVAR_058624
16BRAFp.Lys499AsnVAR_058625
17BRAFp.Leu525ProVAR_058626
18BRAFp.Thr599ArgVAR_058628
19BRAFp.Lys601GlnVAR_058629
20BRAFp.Asp638GluVAR_058630
21BRAFp.Gln709ArgVAR_058631
22BRAFp.Thr244ProVAR_065171
23BRAFp.Gln262LysVAR_065172
24BRAFp.Asn580AspVAR_065173

Clinvar genetic disease variations for Cardiofaciocutaneous Syndrome:

7 (show all 43)
id Gene Variation Type Significance SNP ID Assembly Location
1KRASNM_033360.3(KRAS): c.178G> C (p.Gly60Arg)single nucleotide variantPathogenicrs104894359GRCh37Chr 12, 25380280: 25380280
2KRASNM_004985.4(KRAS): c.458A> T (p.Asp153Val)single nucleotide variantPathogenicrs104894360GRCh37Chr 12, 25362838: 25362838
3KRASNM_033360.3(KRAS): c.101C> G (p.Pro34Arg)single nucleotide variantPathogenicrs104894366GRCh37Chr 12, 25398218: 25398218
4KRASNM_033360.3(KRAS): c.15A> T (p.Lys5Asn)single nucleotide variantPathogenicrs104894361GRCh37Chr 12, 25398304: 25398304
5KRASNM_004985.4(KRAS): c.468C> G (p.Phe156Leu)single nucleotide variantPathogenicrs104894362GRCh37Chr 12, 25362828: 25362828
6MAP2K1NM_002755.3(MAP2K1): c.158T> C (p.Phe53Ser)single nucleotide variantPathogenicrs121908594GRCh37Chr 15, 66727442: 66727442
7MAP2K1NM_002755.3(MAP2K1): c.389A> G (p.Tyr130Cys)single nucleotide variantPathogenicrs121908595GRCh37Chr 15, 66729181: 66729181
8MAP2K1NM_002755.3(MAP2K1): c.383G> T (p.Gly128Val)single nucleotide variantPathogenicrs121908596GRCh37Chr 15, 66729175: 66729175
9BRAFNM_004333.4(BRAF): c.736G> C (p.Ala246Pro)single nucleotide variantPathogenicrs180177034GRCh37Chr 7, 140501336: 140501336
10BRAFNM_004333.4(BRAF): c.770A> G (p.Gln257Arg)single nucleotide variantPathogenicrs180177035GRCh37Chr 7, 140501302: 140501302
11BRAFNM_004333.4(BRAF): c.1406G> A (p.Gly469Glu)single nucleotide variantPathogenicrs121913355GRCh37Chr 7, 140481402: 140481402
12BRAFNM_004333.4(BRAF): c.1455G> C (p.Leu485Phe)single nucleotide variantPathogenicrs180177036GRCh37Chr 7, 140477853: 140477853
13BRAFNM_004333.4(BRAF): c.1495A> G (p.Lys499Glu)single nucleotide variantPathogenicrs180177037GRCh37Chr 7, 140477813: 140477813
14BRAFNM_004333.4(BRAF): c.1501G> A (p.Glu501Lys)single nucleotide variantPathogenicrs180177038GRCh37Chr 7, 140477807: 140477807
15BRAFNM_004333.4(BRAF): c.1502A> G (p.Glu501Gly)single nucleotide variantPathogenicrs180177039GRCh37Chr 7, 140477806: 140477806
16BRAFNM_004333.4(BRAF): c.1741A> G (p.Asn581Asp)single nucleotide variantPathogenicrs180177040GRCh37Chr 7, 140453987: 140453987
17BRAFNM_004333.4(BRAF): c.1600G> C (p.Gly534Arg)single nucleotide variantPathogenicrs180177041GRCh37Chr 7, 140476806: 140476806
18BRAFNM_004333.4(BRAF): c.1914T> A (p.Asp638Glu)single nucleotide variantPathogenicrs180177042GRCh37Chr 7, 140449165: 140449165
19BRAFNM_004333.4(BRAF): c.721A> C (p.Thr241Pro)single nucleotide variantPathogenicrs387906661GRCh37Chr 7, 140501351: 140501351
20MAP2K2NM_030662.3(MAP2K2): c.395G> A (p.Gly132Asp)single nucleotide variantPathogenicrs387906800GRCh37Chr 19, 4110562: 4110562
21KRASNM_033360.3(KRAS): c.211T> C (p.Tyr71His)single nucleotide variantPathogenicrs387907205GRCh37Chr 12, 25380247: 25380247
22KRASNM_033360.3(KRAS): c.439A> G (p.Lys147Glu)single nucleotide variantPathogenicrs387907206GRCh37Chr 12, 25378559: 25378559
23BRAFNM_004333.4(BRAF): c.730A> C (p.Thr244Pro)single nucleotide variantPathogenicrs397507465GRCh37Chr 7, 140501342: 140501342
24BRAFNM_004333.4(BRAF): c.735A> C (p.Leu245Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
25BRAFNM_004333.4(BRAF): c.735A> T (p.Leu245Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
26BRAFNM_004333.4(BRAF): c.769C> A (p.Gln257Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397507469GRCh37Chr 7, 140501303: 140501303
27BRAFNM_004333.4(BRAF): c.1403T> C (p.Phe468Ser)single nucleotide variantPathogenicrs397507473GRCh37Chr 7, 140481405: 140481405
28BRAFNM_004333.4(BRAF): c.1502A> T (p.Glu501Val)single nucleotide variantLikely pathogenic, Pathogenicrs180177039GRCh37Chr 7, 140477806: 140477806
29BRAFNM_004333.4(BRAF): c.1695T> G (p.Asp565Glu)single nucleotide variantLikely pathogenic, Pathogenicrs397507480GRCh37Chr 7, 140454033: 140454033
30MAP2K1NM_002755.3(MAP2K1): c.371C> T (p.Pro124Leu)single nucleotide variantLikely pathogenicrs397516792GRCh37Chr 15, 66729163: 66729163
31MAP2K1NM_002755.3(MAP2K1): c.388T> C (p.Tyr130His)single nucleotide variantPathogenicrs397516793GRCh37Chr 15, 66729180: 66729180
32MAP2K1NM_002755.3(MAP2K1): c.124C> T (p.Leu42Phe)single nucleotide variantPathogenicrs397516789GRCh37Chr 15, 66727408: 66727408
33BRAFNM_004333.4(BRAF): c.1442C> A (p.Ala481Glu)single nucleotide variantLikely pathogenicrs397516892GRCh37Chr 7, 140477866: 140477866
34BRAFNM_004333.4(BRAF): c.1460T> G (p.Val487Gly)single nucleotide variantLikely pathogenicrs397516893GRCh37Chr 7, 140477848: 140477848
35BRAFNM_004333.4(BRAF): c.1501G> C (p.Glu501Gln)single nucleotide variantLikely pathogenicrs180177038GRCh37Chr 7, 140477807: 140477807
36BRAFNM_004333.4(BRAF): c.1743T> A (p.Asn581Lys)single nucleotide variantPathogenicrs397516895GRCh37Chr 7, 140453192: 140453192
37BRAFNM_004333.4(BRAF): c.1786G> T (p.Gly596Cys)single nucleotide variantLikely pathogenicrs121913361GRCh37Chr 7, 140453149: 140453149
38BRAFNM_004333.4(BRAF): c.1802A> C (p.Lys601Thr)single nucleotide variantLikely pathogenicrs397507484GRCh37Chr 7, 140453133: 140453133
39BRAFNM_004333.4(BRAF): c.785A> C (p.Gln262Pro)single nucleotide variantLikely pathogenicrs397516904GRCh37Chr 7, 140501287: 140501287
40MAP2K2NM_030662.3(MAP2K2): c.170T> G (p.Phe57Cys)single nucleotide variantPathogenicrs121434497GRCh37Chr 19, 4117550: 4117550
41MAP2K2NM_030662.3(MAP2K2): c.169T> G (p.Phe57Val)single nucleotide variantPathogenicrs121434498GRCh37Chr 19, 4117551: 4117551
42MAP2K2NM_030662.3(MAP2K2): c.400T> C (p.Tyr134His)single nucleotide variantLikely pathogenic, Pathogenicrs121434499GRCh37Chr 19, 4110557: 4110557
43MAP2K2NM_030662.3(MAP2K2): c.383C> A (p.Pro128Gln)single nucleotide variantPathogenicrs267607230GRCh37Chr 19, 4110574: 4110574

Expression for genes affiliated with Cardiofaciocutaneous Syndrome

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Search GEO for disease gene expression data for Cardiofaciocutaneous Syndrome.

Pathways for genes affiliated with Cardiofaciocutaneous Syndrome

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Pathways related to Cardiofaciocutaneous Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 181)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
7.7MAP2K1, MAP2K2, RAF1, KRAS, HRAS, BRAF
2
Show member pathways
7.7BRAF, MAP2K2, MAP2K1, RAF1, KRAS, HRAS
37.7HRAS, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
4
Show member pathways
7.7MAP2K2, BRAF, RAF1, KRAS, HRAS, MAP2K1
57.5BRAF, MAP2K2, SOS1, MAP2K1, RAF1, KRAS
67.4SOS1, HRAS, RAF1, MAP2K1, MAP2K2, BRAF
7
Show member pathways
7.4HRAS, MAP2K1, RAF1, BRAF, SOS1, MAP2K2
8
Show member pathways
7.4HRAS, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
9
Show member pathways
7.3SOS1, MAP2K2, MAP2K1, RAF1, KRAS, HRAS
10
Show member pathways
7.3RAF1, MAP2K1, KRAS, SOS1, MAP2K2, HRAS
11
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)38
7.2SOS1, MAP2K2, MAP2K1, PTPN11, RAF1, HRAS
127.2PTPN11, SOS1, MAP2K2, MAP2K1, RAF1, HRAS
137.2HRAS, PTPN11, SOS1, MAP2K2, MAP2K1, RAF1
147.2HRAS, PTPN11, RAF1, MAP2K2, MAP2K1, SOS1
157.2SOS1, HRAS, RAF1, MAP2K1, MAP2K2, PTPN11
16
Show member pathways
IL-2 Signaling pathway38
7.2HRAS, PTPN11, SOS1, MAP2K2, MAP2K1, RAF1
17
Show member pathways
Immune response IL 3 activation and signaling pathway60
7.2MAP2K2, HRAS, RAF1, MAP2K1, SOS1, PTPN11
18
Show member pathways
Development Flt3 signaling60
7.2SOS1, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1
19
Show member pathways
EPO Receptor Signaling38
EPO signaling pathway38
7.2MAP2K2, MAP2K1, RAF1, HRAS, PTPN11, SOS1
20
Show member pathways
7.0BRAF, SOS1, PTPN11, RAF1, MAP2K1, MAP2K2
21
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
6.9KRAS, SOS1, RAF1, MAP2K1, MAP2K2, BRAF
22
Show member pathways
Signal transduction PTEN pathway60
6.9SOS1, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
23
Show member pathways
ErbB receptor signaling network38
ErbB signaling pathway38
6.9SOS1, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
24
Show member pathways
PLK2 and PLK4 events38
Polo-like kinase signaling events in the cell cycle38
6.9MAP2K1, MAP2K2, BRAF, SOS1, HRAS, KRAS
25
Show member pathways
6.9HRAS, KRAS, RAF1, SOS1, BRAF, MAP2K2
26
Show member pathways
MAPK signaling pathway38
6.9MAP2K1, RAF1, KRAS, HRAS, MAP2K2, BRAF
27
Show member pathways
6.9SOS1, MAP2K2, MAP2K1, RAF1, KRAS, HRAS
28
Show member pathways
Signaling Pathways in Glioblastoma38
6.9HRAS, SOS1, BRAF, RAF1, MAP2K1, MAP2K2
29
Show member pathways
6.9MAP2K2, RAF1, MAP2K1, KRAS, HRAS, SOS1
30
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways60
Immune response IL 1 signaling pathway60
6.7RAF1, MAP2K1, MAP2K2, SOS1, PTPN11, HRAS
31
Show member pathways
6.7KRAS, RAF1, MAP2K1, MAP2K2, SOS1, PTPN11
326.7MAP2K1, MAP2K2, SOS1, RAF1, KRAS, HRAS
33
Show member pathways
6.7MAP2K2, RAF1, KRAS, HRAS, MAP2K1, SOS1
34
Show member pathways
BCR signaling pathway38
TCR Signaling Pathway38
6.7HRAS, KRAS, RAF1, MAP2K1, MAP2K2, SOS1
35
Show member pathways
6.7MAP2K2, MAP2K1, RAF1, KRAS, HRAS, SOS1
36
Show member pathways
6.7HRAS, RAF1, MAP2K1, MAP2K2, PTPN11, KRAS
37
Show member pathways
Prolactin Signaling Pathway38
Development Prolactin receptor signaling60
Leptin signaling pathway38
6.7HRAS, MAP2K2, PTPN11, SOS1, MAP2K1, RAF1
38
Show member pathways
6.7RAF1, PTPN11, SOS1, MAP2K1, HRAS, MAP2K2
39
Show member pathways
6.4PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, KRAS
406.4PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
41
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells38
6.4PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
42
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
6.4KRAS, RAF1, MAP2K1, MAP2K2, HRAS, PTPN11
43
Show member pathways
Immune response CD16 signaling in NK cells60
6.4PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
44
Show member pathways
6.4BRAF, SOS1, PTPN11, HRAS, KRAS, RAF1
456.4HRAS, KRAS, RAF1, MAP2K1, MAP2K2, BRAF
46
Show member pathways
6.4PTPN11, KRAS, HRAS, RAF1, MAP2K1, MAP2K2
47
Show member pathways
6.4MAP2K1, RAF1, KRAS, HRAS, MAP2K2, BRAF
48
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
6.4HRAS, RAF1, MAP2K1, MAP2K2, BRAF, SOS1
49
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor38
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
6.4RAF1, PTPN11, KRAS, HRAS, MAP2K2, BRAF
50
Show member pathways
MAPK Cascade38
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway38
6.4MAP2K2, BRAF, SOS1, PTPN11, HRAS, KRAS

Compounds for genes affiliated with Cardiofaciocutaneous Syndrome

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Compounds related to Cardiofaciocutaneous Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1gdc 08796110.0BRAF, RAF1
2l-779,4506110.0BRAF, RAF1
3gw 5074619.9BRAF, RAF1
4sb 590885619.9BRAF, RAF1
5gw-5074459.9RAF1, BRAF
6panitumumab45 51 1311.9KRAS, BRAF
7zm 33637261 4510.9BRAF, RAF1
8trametinib51 1310.8MAP2K1, MAP2K2, BRAF
917-(allylamino)-17-demethoxygeldanamycin459.6RAF1, MAP2K1, BRAF
10regorafenib51 1310.5KRAS, RAF1, BRAF
11dabrafenib51 1310.5RAF1, BRAF
12pd-184352459.5MAP2K1, RAF1, KRAS
13crcs459.4BRAF, KRAS, HRAS
14gppnhp459.4HRAS, RAF1
15manumycin459.3MAP2K1, RAF1, HRAS
16ag 1478459.3RAF1, MAP2K1, PTPN11
17gp 130459.1PTPN11, MAP2K1, HRAS
18lovastatin45 51 61 30 1313.1HRAS, RAF1, MAP2K1
19gf 109203x45 6110.0MAP2K1, RAF1, HRAS
20sb 20358045 6110.0PTPN11, BRAF, MAP2K1, RAF1
21phenylalanine459.0HRAS, BRAF, PTPN11
2212-o-tetradecanoylphorbol 13-acetate458.9HRAS, RAF1, MAP2K1, BRAF
23forskolin45 51 1310.9PTPN11, BRAF, MAP2K1, RAF1
24valine458.9BRAF, RAF1, KRAS, HRAS
25herbimycin a45 619.8HRAS, RAF1, MAP2K1, PTPN11
26phosphotyrosine458.8PTPN11, MAP2K1, RAF1, HRAS
27imatinib45 51 1310.7PTPN11, BRAF, MAP2K1, RAF1, KRAS
28adp45 30 2610.6PTPN11, BRAF, MAP2K2, MAP2K1, RAF1
29pd 98,059458.6HRAS, RAF1, MAP2K1, MAP2K2, BRAF
30cyclic amp45 269.6BRAF, MAP2K1, RAF1, HRAS
31thymidine45 269.6PTPN11, MAP2K1, RAF1, HRAS
32paclitaxel45 51 1310.5BRAF, MAP2K1, RAF1, KRAS, HRAS
33agar458.5PTPN11, BRAF, MAP2K1, RAF1, HRAS
34estrogen458.4BRAF, MAP2K1, RAF1, KRAS, HRAS
35retinoic acid45 269.4HRAS, KRAS, RAF1, MAP2K1, BRAF
36oligonucleotide458.4PTPN11, BRAF, RAF1, KRAS, HRAS
37h2o2458.3HRAS, KRAS, RAF1, MAP2K1, PTPN11
38arginine458.3PTPN11, BRAF, MAP2K1, HRAS
39gtp45 309.1SOS1, BRAF, RAF1, KRAS, HRAS
40threonine458.1PTPN11, BRAF, MAP2K2, MAP2K1, RAF1, HRAS
41rapamycin458.0PTPN11, BRAF, MAP2K1, RAF1, KRAS, HRAS
42ly294002458.0PTPN11, BRAF, MAP2K1, RAF1, KRAS, HRAS
43cisplatin45 51 61 1311.0PTPN11, BRAF, MAP2K1, RAF1, KRAS, HRAS
44vegf458.0PTPN11, BRAF, MAP2K1, RAF1, KRAS, HRAS
45lipid457.9HRAS, KRAS, BRAF, SOS1, PTPN11
46wortmannin457.7PTPN11, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
47phosphoinositide457.7PTPN11, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
48phosphatidylinositol456.9HRAS, PTPN11, SOS1, BRAF, MAP2K2, MAP2K1
49serine456.8PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
50tyrosine456.8PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1

GO Terms for genes affiliated with Cardiofaciocutaneous Syndrome

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Cellular components related to Cardiofaciocutaneous Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057398.7KRAS, MAP2K1, MAP2K2, PTPN11
2Golgi apparatusGO:00057948.4MAP2K2, MAP2K1, RAF1, HRAS
3plasma membraneGO:00058867.0SOS1, BRAF, MAP2K1, RAF1, KRAS, HRAS
4cytosolGO:00058296.9HRAS, RAF1, MAP2K1, MAP2K2, BRAF, SOS1

Biological processes related to Cardiofaciocutaneous Syndrome according to GeneCards/GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1regulation of early endosome to late endosome transportGO:0200064110.0MAP2K2, MAP2K1
2regulation of Golgi inheritanceGO:009017010.0MAP2K2, MAP2K1
3regulation of stress-activated MAPK cascadeGO:003287210.0MAP2K2, MAP2K1
4positive regulation of protein serine/threonine kinase activityGO:00719029.9MAP2K1, MAP2K2
5positive regulation of Rac protein signal transductionGO:00350229.7KRAS, HRAS
6regulation of synaptic transmission, GABAergicGO:00322289.6HRAS, KRAS
7striated muscle cell differentiationGO:00511469.6HRAS, KRAS
8cellular senescenceGO:00903989.6MAP2K1, HRAS
9regulation of long-term neuronal synaptic plasticityGO:00481699.5KRAS, HRAS
10positive regulation of gene expressionGO:00106289.5BRAF, MAP2K1, KRAS
11activation of MAPK activityGO:00001879.5MAP2K1, MAP2K2, PTPN11
12protein heterooligomerizationGO:00512919.4HRAS, MAP2K1, BRAF
13social behaviorGO:00351769.4KRAS, HRAS
14positive regulation of MAP kinase activityGO:00434069.4HRAS, KRAS
15negative regulation of neuron apoptotic processGO:00435249.3HRAS, KRAS, BRAF
16visual learningGO:00085429.1HRAS, KRAS
17cell proliferationGO:00082838.8HRAS, RAF1, MAP2K1
18MAPK cascadeGO:00001658.4MAP2K2, MAP2K1, RAF1, KRAS, HRAS
19leukocyte migrationGO:00509008.4HRAS, KRAS, SOS1, PTPN11
20signal transductionGO:00071658.2HRAS, RAF1, MAP2K1, SOS1
21activation of MAPKK activityGO:00001868.1BRAF, MAP2K2, MAP2K1, RAF1, KRAS, HRAS
22blood coagulationGO:00075967.9PTPN11, SOS1, RAF1, KRAS, HRAS
23Ras protein signal transductionGO:00072657.6SOS1, MAP2K2, MAP2K1, RAF1, KRAS, HRAS
24small GTPase mediated signal transductionGO:00072647.3SOS1, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
25insulin receptor signaling pathwayGO:00082867.1HRAS, KRAS, RAF1, MAP2K1, MAP2K2, SOS1
26Fc-epsilon receptor signaling pathwayGO:00380957.1KRAS, RAF1, MAP2K1, MAP2K2, SOS1, PTPN11
27epidermal growth factor receptor signaling pathwayGO:00071737.1PTPN11, HRAS, KRAS, RAF1, MAP2K1, MAP2K2
28axon guidanceGO:00074117.1PTPN11, SOS1, MAP2K2, MAP2K1, RAF1, KRAS
29innate immune responseGO:00450877.1PTPN11, SOS1, MAP2K2, MAP2K1, RAF1, KRAS
30fibroblast growth factor receptor signaling pathwayGO:00085436.8HRAS, KRAS, RAF1, MAP2K1, MAP2K2, BRAF
31neurotrophin TRK receptor signaling pathwayGO:00480116.8BRAF, SOS1, PTPN11, MAP2K2, MAP2K1, HRAS

Molecular functions related to Cardiofaciocutaneous Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activator activityGO:00435399.8MAP2K2, MAP2K1
2small GTPase bindingGO:00312679.7RAF1, BRAF
3MAP kinase kinase activityGO:00047089.7MAP2K1, MAP2K2
4mitogen-activated protein kinase kinase bindingGO:00314349.7RAF1, BRAF
5MAP kinase kinase kinase activityGO:00047099.6RAF1, BRAF
6protein serine/threonine/tyrosine kinase activityGO:00047129.4MAP2K1, MAP2K2
7protein kinase activityGO:00046729.1BRAF, MAP2K1, RAF1
8protein serine/threonine kinase activityGO:00046749.0RAF1, MAP2K1, MAP2K2, BRAF
9protein bindingGO:00055156.6HRAS, PTPN11, SOS1, BRAF, MAP2K2, MAP2K1

Products for genes affiliated with Cardiofaciocutaneous Syndrome

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Sources for Cardiofaciocutaneous Syndrome

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4CDC
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27ICD10
28ICD10 via Orphanet
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30IUPHAR
31KEGG
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