MCID: CRD013
MIFTS: 63

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 bone, 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 127)
idRelated DiseaseScoreTop Affiliating Genes
1cardiofaciocutaneous syndrome 312.1
2cardiofaciocutaneous syndrome 212.1
3cardiofaciocutaneous syndrome 412.1
4braf-related cardiofaciocutaneous syndrome11.8
5kras-related cardiofaciocutaneous syndrome11.8
6map2k1-related cardiofaciocutaneous syndrome11.8
7map2k2-related cardiofaciocutaneous syndrome11.8
8heterotaxy11.5
9heart disease11.4
10congenital heart disease11.4
11biliary atresia11.4
12transposition of the great arteries11.3
13heterotaxy, visceral, 2, autosomal11.2
14visceral heterotaxy11.1
15conotruncal heart malformations11.1
16heart septal defect11.0
17transposition of the great arteries, dextro-looped 210.8
18cfc1-related conotruncal heart malformations10.8
19cfc1-related visceral heterotaxy10.8
20biliary atresia with splenic malformation syndrome10.8
21congenitally uncorrected transposition of the great arteries10.8
22cataract-intellectual disability-hypogonadism syndrome10.6BRAF, KRAS
23eccrine papillary adenoma10.6BRAF, KRAS
24ovarian germ cell teratoma10.5BRAF, KRAS
25splenogonadal fusion limb defects micrognatia10.5BRAF, HRAS
26watson syndrome10.5MAP2K2, PTPN11
27in situ pulmonary adenocarcinoma10.5BRAF, KRAS
28intracystic papillary adenoma10.4HRAS, KRAS
29brachydactyly, type e210.4KRAS, NRAS
30lung sarcoma10.3KRAS, NRAS
31meibomian cyst10.3PTPN11, SOS1
32non-langerhans-cell histiocytosis10.3BRAF, NRAS
33melanocytic nevus syndrome, congenital, somatic10.3HRAS, NRAS
34hepatic osteogenic sarcoma10.3BRAF, NRAS
35apocrine adenocarcinoma10.3HRAS, KRAS
36hereditary congenital ptosis10.3BRAF, KRAS
37bile duct cystadenocarcinoma10.2KRAS, NRAS
38pineal region germinoma10.2MAP2K1, MAP2K2
39sublingual gland adenoid cystic carcinoma10.2BRAF, NRAS
40gastrointestinal carcinoma10.2KRAS, NRAS
41benign mesenchymoma10.1KRAS, NRAS
42tetrasomy 12p10.1HRAS, KRAS, NRAS
43sigmoid disease10.1HRAS, KRAS, NRAS
44diabetic encephalopathy10.1HRAS, KRAS, NRAS
45epidermal nevus, somatic10.1HRAS, KRAS, NRAS
46chronic inflammatory demyelinating polyradiculoneuropathy10.1HRAS, KRAS, NRAS
47schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.1HRAS, KRAS, NRAS
48mucosal melanoma10.1HRAS, KRAS, NRAS
49eccrine papillary adenocarcinoma10.1HRAS, KRAS, NRAS
50erythrasma10.1HRAS, KRAS, NRAS

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, Bone, Testes, Eye, Tongue, Lung

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 36)
idTitleAuthorsYear
1
Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience. (27149079)
2016
2
Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome. (26842671)
2016
3
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. (26242988)
2015
4
Clinicopathologic evaluation of cardiofaciocutaneous syndrome: overcoming the challenges of diagnosing a rare genodermatosis. (25514835)
2015
5
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation. (25487361)
2015
6
Anesthesia for a pediatric patient with cardiofaciocutaneous syndrome. (25827862)
2015
7
Emergence of a Genetic Diagnosis: Case Presentation of a Preterm Infant With Cardiofaciocutaneous Syndrome. (26225596)
2015
8
Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients]. (25194980)
2015
9
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. (25346259)
2014
10
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. (25250515)
2014
11
The perinatal presentation of cardiofaciocutaneous syndrome. (24719372)
2014
12
Cardiofaciocutaneous syndrome. (24600094)
2013
13
My memories of Professor Giovanni Neri: the cardiofaciocutaneous syndrome (CFC). (24166813)
2013
14
Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation. (24303953)
2013
15
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review. (24283439)
2013
16
Cardiofaciocutaneous syndrome: a rare entity. (22837569)
2012
17
Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. (21178588)
2011
18
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. (21062266)
2011
19
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. (20523244)
2011
20
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. (20186801)
2010
21
Eccrine squamous metaplasia and periadnexal granulomas: new cutaneous histopathologic findings in cardiofaciocutaneous syndrome. (19804494)
2010
22
Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts. (20518782)
2010
23
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. (19206169)
2009
24
Tetralogy of Fallot and hypertrophic cardiomyopathy in a case of cardiofaciocutaneous syndrome. (18773675)
2008
25
The cardiofaciocutaneous syndrome: prenatal findings in two patients. (18022830)
2008
26
Peripheral neuropathy in cardiofaciocutaneous syndrome. (17437909)
2007
27
The cardiofaciocutaneous syndrome. (16825433)
2006
28
Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. (16007634)
2005
29
Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature. (15096145)
2004
30
CFC index for the diagnosis of cardiofaciocutaneous syndrome. (12239713)
2002
31
Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. (10528867)
1999
32
Cardiofaciocutaneous syndrome. (8420490)
1993
33
Retinal dystrophy in the cardiofaciocutaneous syndrome. (8410580)
1993
34
Cardiofaciocutaneous Syndrome (20301365)
1993
35
Cardiofaciocutaneous syndrome with new ectodermal manifestations. (1619641)
1992
36
Cardiofaciocutaneous syndrome. (1342862)
1992

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
7.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
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
7.3HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1
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