MCID: CRD013
MIFTS: 65

Cardiofaciocutaneous Syndrome malady

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

Aliases & Classifications for Cardiofaciocutaneous Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 47Novoseek, 67UniProtKB/Swiss-Prot, 27ICD10, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cardiofaciocutaneous Syndrome:

Name: Cardiofaciocutaneous Syndrome 49 10 11 21 45 22 23 12 51 24
Cfc Syndrome 10 21 45 22 23 47 51 67
Cardio-Facio-Cutaneous Syndrome 45 22 23 67
Cardiofaciocutaneous Syndrome 1 67 24
 
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities and Growth Failure 45
Cardio-Facial-Cutaneous Syndrome 10
Cfcs 67
Cfc1 67

Characteristics:

Orphanet epidemiological data:

51
cardiofaciocutaneous syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

61
cardiofaciocutaneous syndrome:
Onset and clinical course: congenital onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 115150
Disease Ontology10 DOID:0060233
ICD1027 Q87.8
Orphanet51 1340
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C535579
UMLS via Orphanet66 C1275081
MedGen34 C1275081

Summaries for Cardiofaciocutaneous Syndrome

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OMIM:49 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 cardiofaciocutaneous syndrome 3 and cardiofaciocutaneous syndrome 2, and has symptoms including long face, coarse facial features and full cheeks. An important gene associated with Cardiofaciocutaneous Syndrome is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways are Thyroid cancer and Development_Leptin signaling via JAK/STAT and MAPK cascades. Affiliated tissues include heart, skin and testes, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

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:45 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 syndromes are part of a group of related conditions called the rasopathies and  they 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. the cfc syndroeme is caused by mutations in the braf (75%-80% of the cases), map2k1,  map2k2 or kras gene (in fewer than 5% of the cases). cfc syndrome is an autosomal dominant condition, however, most cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family. treatment is symptomatic and may include surgery to correct the heart problems. last updated: 5/6/2015

UniProtKB/Swiss-Prot:67 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.

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

GeneReviews summary for NBK1186

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
Kras-Related Cardiofaciocutaneous Syndrome Map2k1-Related Cardiofaciocutaneous Syndrome
Map2k2-Related Cardiofaciocutaneous Syndrome

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

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1cardiofaciocutaneous syndrome 312.5
2cardiofaciocutaneous syndrome 212.5
3cardiofaciocutaneous syndrome 412.5
4braf-related cardiofaciocutaneous syndrome12.2
5kras-related cardiofaciocutaneous syndrome12.2
6map2k1-related cardiofaciocutaneous syndrome12.2
7map2k2-related cardiofaciocutaneous syndrome12.2
8heterotaxy, visceral, 2, autosomal11.6
9heterotaxy11.6
10visceral heterotaxy11.5
11heart disease11.5
12congenital heart disease11.5
13conotruncal heart malformations11.5
14costello syndrome10.5
15cataract-intellectual disability-hypogonadism syndrome10.4BRAF, KRAS
16eccrine papillary adenoma10.4BRAF, KRAS
17ovarian germ cell teratoma10.4BRAF, KRAS
18woolly hair, autosomal dominant10.3
19hypotrichosis 810.3
20pectus carinatum10.3
21endotheliitis10.3
22splenogonadal fusion limb defects micrognatia10.3BRAF, HRAS
23watson syndrome10.3MAP2K2, PTPN11
24in situ pulmonary adenocarcinoma10.3BRAF, KRAS
25intracystic papillary adenoma10.3HRAS, KRAS
26brachydactyly, type e210.2KRAS, NRAS
27lung sarcoma10.2KRAS, NRAS
28meibomian cyst10.2PTPN11, SOS1
29non-langerhans-cell histiocytosis10.2BRAF, NRAS
30melanocytic nevus syndrome, congenital, somatic10.2HRAS, NRAS
31hepatic osteogenic sarcoma10.2BRAF, NRAS
32systemic lupus erythematosus10.2
33breast cancer10.2
34alcohol dependence10.2
35celiac disease10.2
36cerebral amyloid angiopathy10.2
37b-cell lymphomas10.2
38cholangiocarcinoma10.2
39craniosynostosis10.2
40temporal lobe epilepsy10.2
41aniseikonia10.2
42lymphoma10.2
43brain cancer10.2
44biliary atresia10.2
45opisthorchiasis10.2
46papilloma10.2
47inverted papilloma10.2
48cerebritis10.2
49tuberculosis10.2
50thyroiditis10.2

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:

 51 (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 138)
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 atria septal defect 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 hypoplasia of the zygomatic bone 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 tongue thrusting HP:0100703
68 prominent forehead HP:0011220
69 open bite HP:0010807
70 anterior creases of earlobe HP:0009908
71 underdeveloped supraorbital ridges HP:0009891
72 feeding difficulties in infancy HP:0008872
73 multiple plantar creases HP:0008113
74 sparse hair HP:0008070
75 ichthyosis HP:0008064
76 aplasia/hypoplasia of the corpus callosum HP:0007370
77 hypoplasia of the frontal lobes HP:0007333
78 multiple palmar creases HP:0006114
79 depressed nasal bridge HP:0005280
80 relative macrocephaly HP:0004482
81 short stature HP:0004322
82 clinodactyly of the 5th finger HP:0004209
83 short nose HP:0003196
84 delayed skeletal maturation HP:0002750
85 absent eyebrow HP:0002223
86 slow-growing hair HP:0002217
87 curly hair HP:0002212
88 cerebral cortical atrophy HP:0002120
89 gastroesophageal reflux HP:0002020
90 constipation HP:0002019
91 vomiting HP:0002013
92 deep philtrum HP:0002002
93 splenomegaly HP:0001744
94 pulmonic stenosis HP:0001642
95 hypertrophic cardiomyopathy HP:0001639
96 atria septal defect HP:0001631
97 premature birth HP:0001622
98 polyhydramnios HP:0001561
99 failure to thrive HP:0001508
100 hypertonia HP:0001276
101 muscular hypotonia HP:0001252
102 seizures HP:0001250
103 intellectual disability HP:0001249
104 hyperextensibility of the finger joints HP:0001187
105 optic nerve dysplasia HP:0001093
106 cavernous hemangioma HP:0001048
107 atopic dermatitis HP:0001047
108 multiple lentigines HP:0001003
109 hyperkeratosis HP:0000962
110 osteopenia HP:0000938
111 pectus carinatum HP:0000768
112 pectus excavatum HP:0000767
113 dental malocclusion HP:0000689
114 oculomotor apraxia HP:0000657
115 nystagmus HP:0000639
116 absent eyelashes HP:0000561
117 myopia HP:0000545
118 progressive visual loss HP:0000529
119 proptosis HP:0000520
120 ptosis HP:0000508
121 downslanted palpebral fissures HP:0000494
122 strabismus HP:0000486
123 anteverted nares HP:0000463
124 bulbous nose HP:0000414
125 low-set ears HP:0000369
126 hearing impairment HP:0000365
127 posteriorly rotated ears HP:0000358
128 micrognathia HP:0000347
129 narrow forehead HP:0000341
130 hypertelorism HP:0000316
131 epicanthus HP:0000286
132 coarse facial features HP:0000280
133 dolichocephaly HP:0000268
134 hydrocephalus HP:0000238
135 high palate HP:0000218
136 open mouth HP:0000194
137 submucous cleft hard palate HP:0000176
138 hydronephrosis HP:0000126

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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

Anatomical Context for Cardiofaciocutaneous Syndrome

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MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome:

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

Animal Models for Cardiofaciocutaneous Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome:

38 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5BRAF, KRAS, NRAS, PTPN11
2MP:00053778.4BRAF, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1
3MP:00053818.3BRAF, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
4MP:00030128.0HRAS, KRAS, NRAS, PTPN11, RAF1, SOS1
5MP:00020067.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
6MP:00053887.6BRAF, HRAS, KRAS, PTPN11, RAF1, SHOC2
7MP:00053917.5BRAF, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
8MP:00053847.5BRAF, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
9MP:00036317.4BRAF, HRAS, KRAS, MAP2K1, PTPN11, RAF1
10MP:00053977.4BRAF, KRAS, NRAS, PTPN11, RAF1, SOS1
11MP:00053907.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
12MP:00053807.3BRAF, KRAS, MAP2K1, NRAS, PTPN11, RAF1
13MP:00053797.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
14MP:00028737.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
15MP:00107716.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
16MP:00053826.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
17MP:00053766.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
18MP:00107686.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
19MP:00053856.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
20MP:00053785.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS

Publications for Cardiofaciocutaneous Syndrome

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Articles related to Cardiofaciocutaneous Syndrome:

(show all 34)
idTitleAuthorsYear
1
Evaluation of the antiviral therapy for chronic hepatitis C in patients unresponsive to previous treatment with regard to the interleukin-28B genotypes]. (26021070)
2015
2
Lipodystrophy syndrome among HIV infected children on highly active antiretroviral therapy in northern India. (25320591)
2014
3
Role of IGF1-(CA)19 Promoter microsatellite in the clinical presentation of acromegaly. (25370837)
2014
4
A single-site retrospective study of pediatric arterial ischemic stroke etiology, clinical presentation, and radiologic features. (24034087)
2013
5
Nucleoside triphosphates inhibit ADP, collagen, and epinephrine-induced platelet aggregation: role of P2Ya88 and P2Ya88a88 receptors. (24071464)
2013
6
Endodermal sinus tumor of vagina posing a diagnostic challenge and managed by chemotherapy and novel posterior sagittal surgical approach: Lessons learned. (24118204)
2013
7
Exhaled nitric oxide in childhood allergic asthma management a randomised controlled trial. (24039119)
2013
8
Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain. (22855157)
2012
9
Nonsyndromic craniosynostosis: the Rady Children's Hospital approach. (23154350)
2012
10
Silencing suppressor of cytokine signaling-1 (SOCS1) in macrophages improves Mycobacterium tuberculosis control in an interferon-gamma (IFN-gamma)-dependent manner. (21622562)
2011
11
Leukocyte adhesion deficiency type I--a focus on oral disease in a young child. (21196882)
2011
12
Yeast strains with N-terminally truncated ribosomal protein S5: implications for the evolution, structure and function of the Rps5/Rps7 proteins. (19969550)
2010
13
Agglomeration and sedimentation of TiO2 nanoparticles in cell culture medium. (18980834)
2009
14
Histopathological features and accuracy for diagnosing biliary atresia by prelaparotomy liver biopsy in developing countries. (19196397)
2009
15
Site controlled transgenic mice validating increased expression from human matrix metalloproteinase (MMP-1) promoter due to a naturally occurring SNP. (19577645)
2009
16
Affixin activates Rac1 via betaPIX in C2C12 myoblast. (18325335)
2008
17
Nonreplication of the type 5 17beta-hydroxysteroid dehydrogenase gene association with polycystic ovary syndrome. (17940109)
2008
18
Effect of RANKL-specific denosumab on osteoclast number and function: a potential friend or foe? (17907059)
2007
19
The prothrombin gene G20210A variant and puerperal cerebral venous and sinus thrombosis in South Indian women. (17433691)
2007
20
Characterization of anthracenediones and their photoaffinity analogs. (11931847)
2002
21
Impact of the v/v 55 polymorphism of the uncoupling protein 2 gene on 24-h energy expenditure and substrate oxidation. (10557023)
1999
22
Downregulation of the expression of intercellular adhesion molecule (ICAM)-1 on bronchial epithelial cells by fenoterol, a beta2-adrenoceptor agonist. (9734347)
1998
23
Relationship between impairments, disability and handicap in reflex sympathetic dystrophy patients: a long-term follow-up study. (9796931)
1998
24
Primary Malignant Lymphoma of the Breast: Mammographic and Ultrasonographic Findings. (11091633)
1998
25
Expression of aquaporins-1 and -2 during nephrogenesis and in autosomal dominant polycystic kidney disease. (8760258)
1996
26
Involvement of two different urf-s related mitochondrial sequences in the molecular evolution of the CMS-specific S-Pcf locus in petunia. (7476853)
1995
27
A new hereditary cause of portal vein thrombosis: the abnormal resistance to activated protein C by the Arg 506-->Gln mutation of the gene of factor V]. (8522125)
1995
28
Novel Pseudomonas product stimulates interleukin-8 production in airway epithelial cells in vitro. (8282796)
1994
29
Once-a-day administration of amikacin in neonates: assessment of nephrotoxicity and ototoxicity. (7828457)
1993
30
Soluble N-ethylmaleimide-sensitive fusion attachment proteins (SNAPs) bind to a multi-SNAP receptor complex in Golgi membranes. (1601890)
1992
31
Structure of the gene for human butyrylcholinesterase. Evidence for a single copy. (2322535)
1990
32
Regulatory proteins of F1F0-ATPase: role of ATPase inhibitor. (2140357)
1990
33
Pulmonary Mycobacterium xenopi infection as a first manifestation of HIV infection. (2380970)
1990
34
Nursing care study: a patient after cerebrovascular accident. (6905009)
1980

Variations for Cardiofaciocutaneous Syndrome

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

67 (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:

5 (show all 44)
id Gene Variation Type Significance SNP ID Assembly Location
1MAP2K1NM_002755.3(MAP2K1): c.389A> G (p.Tyr130Cys)single nucleotide variantPathogenicrs121908595GRCh37Chr 15, 66729181: 66729181
2BRAFNM_004333.4(BRAF): c.1799T> A (p.Val600Glu)single nucleotide variantPathogenicrs113488022GRCh37Chr 7, 140453136: 140453136
3BRAFNM_004333.4(BRAF): c.1391G> A (p.Gly464Glu)single nucleotide variantLikely pathogenic, Pathogenicrs121913348GRCh37Chr 7, 140481417: 140481417
4BRAFNM_004333.4(BRAF): c.736G> C (p.Ala246Pro)single nucleotide variantPathogenicrs180177034GRCh37Chr 7, 140501336: 140501336
5BRAFNM_004333.4(BRAF): c.1789C> G (p.Leu597Val)single nucleotide variantPathogenicrs121913369GRCh37Chr 7, 140453146: 140453146
6BRAFNM_004333.4(BRAF): c.770A> G (p.Gln257Arg)single nucleotide variantPathogenicrs180177035GRCh37Chr 7, 140501302: 140501302
7BRAFNM_004333.4(BRAF): c.1406G> A (p.Gly469Glu)single nucleotide variantPathogenicrs121913355GRCh37Chr 7, 140481402: 140481402
8BRAFNM_004333.4(BRAF): c.1455G> C (p.Leu485Phe)single nucleotide variantPathogenicrs180177036GRCh37Chr 7, 140477853: 140477853
9BRAFNM_004333.4(BRAF): c.1495A> G (p.Lys499Glu)single nucleotide variantLikely pathogenic, Pathogenicrs180177037GRCh37Chr 7, 140477813: 140477813
10BRAFNM_004333.4(BRAF): c.1501G> A (p.Glu501Lys)single nucleotide variantLikely pathogenic, Pathogenicrs180177038GRCh37Chr 7, 140477807: 140477807
11BRAFNM_004333.4(BRAF): c.1502A> G (p.Glu501Gly)single nucleotide variantPathogenicrs180177039GRCh37Chr 7, 140477806: 140477806
12BRAFNM_004333.4(BRAF): c.1741A> G (p.Asn581Asp)single nucleotide variantPathogenicrs180177040GRCh37Chr 7, 140453987: 140453987
13BRAFNM_004333.4(BRAF): c.1600G> C (p.Gly534Arg)single nucleotide variantPathogenicrs180177041GRCh37Chr 7, 140476806: 140476806
14BRAFNM_004333.4(BRAF): c.1914T> A (p.Asp638Glu)single nucleotide variantPathogenicrs180177042GRCh37Chr 7, 140449165: 140449165
15BRAFNM_004333.4(BRAF): c.1914T> G (p.Asp638Glu)single nucleotide variantPathogenicrs180177042GRCh37Chr 7, 140449165: 140449165
16BRAFNM_004333.4(BRAF): c.1785T> G (p.Phe595Leu)single nucleotide variantLikely pathogenic, Pathogenicrs121913341GRCh37Chr 7, 140453150: 140453150
17BRAFNM_004333.4(BRAF): c.1455G> T (p.Leu485Phe)single nucleotide variantPathogenicrs180177036GRCh38Chr 7, 140778053: 140778053
18MAP2K2NM_030662.3(MAP2K2): c.401A> G (p.Tyr134Cys)single nucleotide variantLikely pathogenic, Pathogenicrs727504370GRCh37Chr 19, 4110556: 4110556
19BRAFNM_004333.4(BRAF): c.1783T> C (p.Phe595Leu)single nucleotide variantPathogenicrs794729219GRCh37Chr 7, 140453152: 140453152
20BRAFNM_004333.4(BRAF): c.1399T> G (p.Ser467Ala)single nucleotide variantPathogenicrs869025606GRCh37Chr 7, 140481409: 140481409
21BRAFNM_004333.4(BRAF): c.1408_1410delACA (p.Thr470del)deletionPathogenicrs869025607GRCh37Chr 7, 140481398: 140481400
22MAP2K1NM_002755.3(MAP2K1): c.171G> T (p.Lys57Asn)single nucleotide variantPathogenicrs869025608GRCh38Chr 15, 66435117: 66435117
23BRAFNM_004333.4(BRAF): c.721A> C (p.Thr241Pro)single nucleotide variantLikely pathogenic, Pathogenicrs387906661GRCh37Chr 7, 140501351: 140501351
24BRAFNM_004333.4(BRAF): c.730A> C (p.Thr244Pro)single nucleotide variantPathogenicrs397507465GRCh37Chr 7, 140501342: 140501342
25BRAFNM_004333.4(BRAF): c.735A> C (p.Leu245Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
26BRAFNM_004333.4(BRAF): c.735A> T (p.Leu245Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
27BRAFNM_004333.4(BRAF): c.769C> A (p.Gln257Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397507469GRCh37Chr 7, 140501303: 140501303
28BRAFNM_004333.4(BRAF): c.1403T> C (p.Phe468Ser)single nucleotide variantPathogenicrs397507473GRCh37Chr 7, 140481405: 140481405
29BRAFNM_004333.4(BRAF): c.1447A> C (p.Lys483Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397507474GRCh37Chr 7, 140477861: 140477861
30BRAFNM_004333.4(BRAF): c.1454T> C (p.Leu485Ser)single nucleotide variantLikely pathogenic, Pathogenicrs397507475GRCh37Chr 7, 140477854: 140477854
31BRAFNM_004333.4(BRAF): c.1502A> T (p.Glu501Val)single nucleotide variantLikely pathogenic, Pathogenicrs180177039GRCh37Chr 7, 140477806: 140477806
32BRAFNM_004333.4(BRAF): c.1695T> G (p.Asp565Glu)single nucleotide variantLikely pathogenic, Pathogenicrs397507480GRCh37Chr 7, 140454033: 140454033
33BRAFNM_004333.4(BRAF): c.1787G> T (p.Gly596Val)single nucleotide variantPathogenicrs397507483GRCh37Chr 7, 140453148: 140453148
34BRAFNM_004333.4(BRAF): c.1799T> G (p.Val600Gly)single nucleotide variantPathogenicrs113488022GRCh37Chr 7, 140453136: 140453136
35MAP2K2NM_030662.3(MAP2K2): c.181A> G (p.Lys61Glu)single nucleotide variantLikely pathogenic, Pathogenicrs730880517GRCh37Chr 19, 4117539: 4117539
36MAP2K1NM_002755.3(MAP2K1): c.199G> A (p.Asp67Asn)single nucleotide variantPathogenicrs727504317GRCh37Chr 15, 66727483: 66727483
37BRAFNM_004333.4(BRAF): c.1442C> A (p.Ala481Glu)single nucleotide variantLikely pathogenicrs397516892GRCh37Chr 7, 140477866: 140477866
38BRAFNM_004333.4(BRAF): c.1460T> G (p.Val487Gly)single nucleotide variantLikely pathogenicrs397516893GRCh37Chr 7, 140477848: 140477848
39BRAFNM_004333.4(BRAF): c.1501G> C (p.Glu501Gln)single nucleotide variantLikely pathogenicrs180177038GRCh37Chr 7, 140477807: 140477807
40BRAFNM_004333.4(BRAF): c.1720C> T (p.His574Tyr)single nucleotide variantPathogenicrs397516894GRCh37Chr 7, 140454008: 140454008
41BRAFNM_004333.4(BRAF): c.1743T> A (p.Asn581Lys)single nucleotide variantPathogenicrs397516895GRCh37Chr 7, 140453192: 140453192
42BRAFNM_004333.4(BRAF): c.785A> C (p.Gln262Pro)single nucleotide variantLikely pathogenicrs397516904GRCh37Chr 7, 140501287: 140501287
43MAP2K2NM_030662.3(MAP2K2): c.170T> G (p.Phe57Cys)single nucleotide variantPathogenicrs121434497GRCh37Chr 19, 4117550: 4117550
44MAP2K2NM_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 Suite gene sharing:

(show top 50)    (show all 186)
idSuper pathwaysScoreTop Affiliating Genes
18.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
2
Show member pathways
8.1HRAS, MAP2K1, PTPN11, RAF1, SOS1
37.9BRAF, KRAS, MAP2K1, MAP2K2, RAF1, SOS1
47.8HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
57.8HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
6
Show member pathways
7.8HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
77.8HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
8
Show member pathways
7.8HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
97.8HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1
10
Show member pathways
7.8HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1
11
Show member pathways
7.8HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1
127.7HRAS, KRAS, MAP2K1, PTPN11, RAF1, SOS1
13
Show member pathways
7.5HRAS, KRAS, MAP2K1, PTPN11, RAF1, SOS1
14
Show member pathways
7.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
157.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
16
Show member pathways
7.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
177.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
187.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
19
Show member pathways
7.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
20
Show member pathways
7.3HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1
21
Show member pathways
7.3HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1
22
Show member pathways
7.3HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
23
Show member pathways
7.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
24
Show member pathways
7.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
257.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
26
Show member pathways
7.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
27
Show member pathways
7.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
28
Show member pathways
7.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
297.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
307.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
31
Show member pathways
7.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
32
Show member pathways
7.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
337.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
34
Show member pathways
7.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
35
Show member pathways
7.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
36
Show member pathways
7.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
37
Show member pathways
7.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
38
Show member pathways
6.9HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
39
Show member pathways
6.9HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
40
Show member pathways
6.9HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
41
Show member pathways
6.9HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
42
Show member pathways
6.9HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
43
Show member pathways
6.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
446.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
45
Show member pathways
6.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
46
Show member pathways
6.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
47
Show member pathways
6.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
48
Show member pathways
6.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
496.3HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
50
Show member pathways
6.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS

GO Terms for genes affiliated with Cardiofaciocutaneous Syndrome

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of axonogenesisGO:005077210.6BRAF, MAP2K1
2epithelial cell proliferation involved in lung morphogenesisGO:006050210.5MAP2K1, MAP2K2
3cerebellar cortex formationGO:002169710.4MAP2K1, PTPN11
4cellular senescenceGO:009039810.3HRAS, MAP2K1
5regulation of axon regenerationGO:004867910.3BRAF, MAP2K1, MAP2K2
6positive regulation of protein serine/threonine kinase activityGO:007190210.2MAP2K1, MAP2K2
7activation of MAPK activityGO:000018710.0MAP2K1, MAP2K2, PTPN11
8negative regulation of neuron apoptotic processGO:004352410.0BRAF, HRAS, KRAS
9negative regulation of gene expressionGO:00106299.8HRAS, MAP2K1, MAP2K2
10stimulatory C-type lectin receptor signaling pathwayGO:00022239.7HRAS, KRAS, NRAS
11regulation of long-term neuronal synaptic plasticityGO:00481699.7HRAS, KRAS
12social behaviorGO:00351769.6HRAS, KRAS
13blood coagulationGO:00075969.6HRAS, NRAS, PTPN11
14ERBB2 signaling pathwayGO:00381289.3HRAS, KRAS, NRAS, SOS1
15thymus developmentGO:00485389.3BRAF, MAP2K1, MAP2K2, RAF1
16Ras protein signal transductionGO:00072659.1BRAF, MAP2K1, MAP2K2, RAF1
17leukocyte migrationGO:00509009.0HRAS, KRAS, NRAS, PTPN11
18MAPK cascadeGO:00001658.6HRAS, KRAS, NRAS, SOS1, SPRED1
19epidermal growth factor receptor signaling pathwayGO:00071738.0BRAF, HRAS, KRAS, MAP2K1, PTPN11, RAF1
20axon guidanceGO:00074117.8BRAF, HRAS, KRAS, RAF1, SOS1, SPRED1
21signal transductionGO:00071657.7BRAF, HRAS, NRAS, RAF1, SOS1
22activation of MAPKK activityGO:00001867.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
23vascular endothelial growth factor receptor signaling pathwayGO:00480107.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
24neurotrophin TRK receptor signaling pathwayGO:00480117.3BRAF, HRAS, KRAS, MAP2K1, NRAS, RAF1
25insulin receptor signaling pathwayGO:00082866.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
26innate immune responseGO:00450876.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
27fibroblast growth factor receptor signaling pathwayGO:00085436.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS

Sources for Cardiofaciocutaneous Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet