MCID: CRD013
MIFTS: 65

Cardiofaciocutaneous Syndrome malady

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

Aliases & Classifications for Cardiofaciocutaneous Syndrome

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

Aliases & Descriptions for Cardiofaciocutaneous Syndrome:

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


Classifications:



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


External Ids:

OMIM49 115150
Disease Ontology10 DOID:0060233
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 respiratory system disease and female reproductive system disease, 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 Development_Leptin signaling via JAK/STAT and MAPK cascades and TGF-beta Signaling Pathways. Affiliated tissues include skin, heart and testes, and related mouse phenotypes are skeleton and muscle.

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.

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.

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.

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

GeneReviews summary for cfc

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 148)
idRelated DiseaseScoreTop Affiliating Genes
1respiratory system disease30.8KRAS, RAF1
2female reproductive system disease30.0HRAS, KRAS, NRAS
3costello syndrome30.0HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
4cardiofaciocutaneous syndrome 310.6
5cardiofaciocutaneous syndrome 210.5
6cardiofaciocutaneous syndrome 410.5
7encephalopathy10.5
8obstructive lung disease10.5
9heterotaxy, visceral, 2, autosomal10.5
10cfc1-related visceral heterotaxy10.5
11asthma10.4
12asthma 210.4
13asthma 110.4
14cork-handlers' disease10.4
15braf-related cardiofaciocutaneous syndrome10.4
16kras-related cardiofaciocutaneous syndrome10.4
17map2k1-related cardiofaciocutaneous syndrome10.4
18map2k2-related cardiofaciocutaneous syndrome10.4
19bronchial disease10.3
20hyperprolactinemia10.3
21hemangioma10.3
22retinitis pigmentosa10.3
23status epilepticus10.3
24hepatoblastoma10.3
25growth hormone deficiency10.3
26precocious puberty10.3
27pulmonary disease, chronic obstructive10.3
28non-suppurative otitis media10.3
29drug rash with eosinophilia and systemic symptoms10.3
30neuropathy10.3
31peripheral neuropathy10.3
32cataract - intellectual disability - hypogonadism10.3BRAF, KRAS
33splenogonadal fusion limb defects micrognatia10.2BRAF, HRAS
34autonomic nervous system disease10.2
35reproductive system disease10.2
36watson syndrome10.2MAP2K2, PTPN11
37kidney hemangiopericytoma10.2HRAS, KRAS
38late-onset junctional epidermolysis bullosa10.2KRAS, NRAS
39mature teratoma of the ovary10.2BRAF, KRAS
40pancreatic mucinous cystadenoma10.2PTPN11, SOS1
41melanocytic nevus syndrome, congenital, somatic10.2HRAS, NRAS
42rectosigmoid junction neoplasm10.2KRAS, NRAS
43urethral syndrome10.2KRAS, NRAS
44western equine encephalitis10.2KRAS, RAF1
45ras-associated autoimmune leukoproliferative disorder10.2KRAS, NRAS
46giant papillary conjunctivitis10.1KRAS, NRAS
47wheat allergic reaction10.1
48peripheral nervous system disease10.1
49amyotrophic lateral sclerosis type 1410.1BRAF, HRAS, KRAS
50malignant type ab thymoma10.1KRAS, 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 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 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 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 atria septal defect 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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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
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, Bone, Tongue, Eye

Animal Models for Cardiofaciocutaneous Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome:

38 (show all 26)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.6BRAF, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1
2MP:00053698.5BRAF, KRAS, MAPK1, PTPN11, RAF1, SOS1
3MP:00053818.5BRAF, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
4MP:00053708.4BRAF, KRAS, MAPK1, NRAS, PTPN11, RAF1
5MP:00053798.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
6MP:00053828.0BRAF, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1
7MP:00053918.0BRAF, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
8MP:00053847.4BRAF, KRAS, MAP2K1, MAP2K2, MAPK1, NRAS
9MP:00020067.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
10MP:00028737.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
11MP:00036317.3BRAF, HRAS, KRAS, MAP2K1, MAPK1, PTPN11
12MP:00053877.2BRAF, KRAS, MAPK1, NRAS, PTPN11, RAF1
13MP:00053977.2BRAF, KRAS, MAPK1, NRAS, PTPN11, RAF1
14MP:00053887.2BRAF, HRAS, KRAS, MAPK1, PTPN11, RAF1
15MP:00053806.9BRAF, KRAS, MAP2K1, MAPK1, NRAS, PTPN11
16MP:00053856.5BRAF, HRAS, KRAS, MAP2K1, MAPK1, NRAS
17MP:00107686.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
18MP:00107716.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
19MP:00053766.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
20MP:00053785.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1

Publications for Cardiofaciocutaneous Syndrome

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Articles related to Cardiofaciocutaneous Syndrome:

(show all 33)
idTitleAuthorsYear
1
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. (26242988)
2015
2
Clinicopathologic evaluation of cardiofaciocutaneous syndrome: overcoming the challenges of diagnosing a rare genodermatosis. (25514835)
2015
3
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation. (25487361)
2015
4
Anesthesia for a pediatric patient with cardiofaciocutaneous syndrome. (25827862)
2015
5
Emergence of a Genetic Diagnosis: Case Presentation of a Preterm Infant With Cardiofaciocutaneous Syndrome. (26225596)
2015
6
Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients]. (25194980)
2015
7
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. (25346259)
2014
8
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. (25250515)
2014
9
The perinatal presentation of cardiofaciocutaneous syndrome. (24719372)
2014
10
Cardiofaciocutaneous syndrome. (24600094)
2013
11
My memories of Professor Giovanni Neri: the cardiofaciocutaneous syndrome (CFC). (24166813)
2013
12
Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation. (24303953)
2013
13
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review. (24283439)
2013
14
Cardiofaciocutaneous syndrome: a rare entity. (22837569)
2012
15
Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. (21178588)
2011
16
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. (21062266)
2011
17
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. (20523244)
2011
18
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. (20186801)
2010
19
Eccrine squamous metaplasia and periadnexal granulomas: new cutaneous histopathologic findings in cardiofaciocutaneous syndrome. (19804494)
2010
20
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. (19206169)
2009
21
Tetralogy of Fallot and hypertrophic cardiomyopathy in a case of cardiofaciocutaneous syndrome. (18773675)
2008
22
The cardiofaciocutaneous syndrome: prenatal findings in two patients. (18022830)
2008
23
Peripheral neuropathy in cardiofaciocutaneous syndrome. (17437909)
2007
24
The cardiofaciocutaneous syndrome. (16825433)
2006
25
Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. (16007634)
2005
26
Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature. (15096145)
2004
27
CFC index for the diagnosis of cardiofaciocutaneous syndrome. (12239713)
2002
28
Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. (10528867)
1999
29
Cardiofaciocutaneous syndrome. (8420490)
1993
30
Retinal dystrophy in the cardiofaciocutaneous syndrome. (8410580)
1993
31
Cardiofaciocutaneous Syndrome (20301365)
1993
32
Cardiofaciocutaneous syndrome with new ectodermal manifestations. (1619641)
1992
33
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 43)
id Gene Variation Type Significance SNP ID Assembly Location
1KRASNM_033360.3(KRAS): c.101C> G (p.Pro34Arg)single nucleotide variantPathogenicrs104894366GRCh37Chr 12, 25398218: 25398218
2MAP2K1NM_002755.3(MAP2K1): c.383G> T (p.Gly128Val)single nucleotide variantLikely pathogenic, Pathogenicrs121908596GRCh37Chr 15, 66729175: 66729175
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 variantPathogenicrs180177037GRCh37Chr 7, 140477813: 140477813
10BRAFNM_004333.4(BRAF): c.1501G> A (p.Glu501Lys)single nucleotide variantPathogenicrs180177038GRCh37Chr 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 variantPathogenicrs180177036GRCh37Chr 7, 140477853: 140477853
18MAP2K1NM_002755.3(MAP2K1): c.305A> G (p.Glu102Gly)single nucleotide variantPathogenicrs797044593GRCh38Chr 15, 66436759: 66436759
19BRAFNM_004333.4(BRAF): c.1783T> C (p.Phe595Leu)single nucleotide variantPathogenicrs794729219GRCh37Chr 7, 140453152: 140453152
20BRAFNM_004333.4(BRAF): c.721A> C (p.Thr241Pro)single nucleotide variantPathogenicrs387906661GRCh37Chr 7, 140501351: 140501351
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.1447A> C (p.Lys483Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397507474GRCh37Chr 7, 140477861: 140477861
29BRAFNM_004333.4(BRAF): c.1454T> C (p.Leu485Ser)single nucleotide variantLikely pathogenic, Pathogenicrs397507475GRCh37Chr 7, 140477854: 140477854
30BRAFNM_004333.4(BRAF): c.1502A> T (p.Glu501Val)single nucleotide variantLikely pathogenic, Pathogenicrs180177039GRCh37Chr 7, 140477806: 140477806
31BRAFNM_004333.4(BRAF): c.1695T> G (p.Asp565Glu)single nucleotide variantLikely pathogenic, Pathogenicrs397507480GRCh37Chr 7, 140454033: 140454033
32BRAFNM_004333.4(BRAF): c.1787G> T (p.Gly596Val)single nucleotide variantPathogenicrs397507483GRCh37Chr 7, 140453148: 140453148
33MAP2K1NM_002755.3(MAP2K1): c.371C> T (p.Pro124Leu)single nucleotide variantLikely pathogenicrs397516792GRCh37Chr 15, 66729163: 66729163
34MAP2K1NM_002755.3(MAP2K1): c.388T> C (p.Tyr130His)single nucleotide variantPathogenicrs397516793GRCh37Chr 15, 66729180: 66729180
35MAP2K2NM_030662.3(MAP2K2): c.181A> G (p.Lys61Glu)single nucleotide variantLikely pathogenic, Pathogenicrs730880517GRCh37Chr 19, 4117539: 4117539
36MAP2K1NM_002755.3(MAP2K1): c.124C> T (p.Leu42Phe)single nucleotide variantLikely pathogenicrs397516789GRCh37Chr 15, 66727408: 66727408
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.169T> G (p.Phe57Val)single nucleotide variantPathogenicrs121434498GRCh37Chr 19, 4117551: 4117551

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 205)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.0HRAS, MAP2K1, MAPK1, PTPN11, RAF1, SOS1
27.8BRAF, KRAS, MAP2K1, MAP2K2, MAPK1, RAF1
37.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
4
Show member pathways
7.7HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
57.7HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
67.7HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
77.7HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
8
Show member pathways
7.7HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
9
Show member pathways
7.7HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
107.6HRAS, KRAS, MAP2K1, MAPK1, PTPN11, RAF1
117.6HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, NRAS
127.6HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, NRAS
13
Show member pathways
7.6HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, NRAS
14
TGF-beta Signaling Pathway (sino)
Show member pathways
7.6HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, NRAS
157.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
167.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
17
VEGF Pathway (Tocris)
Show member pathways
7.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
187.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
19
Show member pathways
7.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
20
Show member pathways
7.2HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, NRAS
21
Show member pathways
7.2HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, NRAS
227.2HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, NRAS
23
Show member pathways
7.2HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
24
Show member pathways
7.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
256.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
26
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
27
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
28
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
296.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
306.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
31
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
32
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
336.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
34
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
35
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
36
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
37
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
38
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
39
B cell receptor signaling pathway (KEGG)
Show member pathways
6.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
40
Show member pathways
6.8HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, NRAS
41
Show member pathways
6.8HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, NRAS
42
Show member pathways
6.8HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, NRAS
43
Show member pathways
6.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
446.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
45
Show member pathways
6.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
46
Show member pathways
6.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
47
Show member pathways
6.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
486.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
49
Show member pathways
6.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
506.0HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, NRAS

GO Terms for genes affiliated with Cardiofaciocutaneous Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1dendrite cytoplasmGO:003283910.3MAP2K1, MAPK1
2pseudopodiumGO:003114310.1MAPK1, RAF1
3late endosomeGO:00057709.9MAP2K1, MAP2K2, MAPK1
4focal adhesionGO:00059259.5KRAS, MAP2K1, MAP2K2, MAPK1
5Golgi apparatusGO:00057948.3HRAS, MAP2K1, MAP2K2, MAPK1, NRAS, RAF1
6mitochondrionGO:00057398.0BRAF, KRAS, MAP2K1, MAP2K2, MAPK1, PTPN11
7intracellularGO:00056227.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
8cytosolGO:00058297.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
9cytoplasmGO:00057376.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1

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

(show top 50)    (show all 52)
idNameGO IDScoreTop Affiliating Genes
1epithelial cell proliferation involved in lung morphogenesisGO:006050210.7MAP2K1, MAP2K2
2regulation of axon regenerationGO:004867910.3BRAF, MAP2K1, MAP2K2
3positive regulation of axonogenesisGO:005077210.3BRAF, MAP2K1, MAP2K2
4ERBB signaling pathwayGO:003812710.2MAPK1, PTPN11
5protein heterooligomerizationGO:005129110.1BRAF, HRAS, MAP2K1
6negative regulation of gene expressionGO:001062910.1HRAS, MAP2K1, MAP2K2
7trachea formationGO:006044010.0MAP2K1, MAP2K2, MAPK1
8regulation of Golgi inheritanceGO:009017010.0MAP2K1, MAP2K2, MAPK1
9regulation of stress-activated MAPK cascadeGO:003287210.0MAP2K1, MAP2K2, MAPK1
10regulation of protein phosphorylationGO:000193210.0MAP2K1, MAP2K2, NRAS
11regulation of early endosome to late endosome transportGO:200064110.0MAP2K1, MAP2K2, MAPK1
12lung morphogenesisGO:00604259.9MAP2K1, MAP2K2, MAPK1
13ERK1 and ERK2 cascadeGO:00703719.9MAP2K1, MAP2K2, MAPK1
14positive regulation of protein phosphorylationGO:00019349.9HRAS, KRAS, RAF1
15organ morphogenesisGO:00098879.7BRAF, HRAS, MAPK1
16toll-like receptor signaling pathwayGO:00022249.7MAP2K1, MAP2K2, MAPK1
17MyD88-dependent toll-like receptor signaling pathwayGO:00027559.7MAP2K1, MAP2K2, MAPK1
18MyD88-independent toll-like receptor signaling pathwayGO:00027569.7MAP2K1, MAP2K2, MAPK1
19toll-like receptor 2 signaling pathwayGO:00341349.7MAP2K1, MAP2K2, MAPK1
20toll-like receptor 3 signaling pathwayGO:00341389.7MAP2K1, MAP2K2, MAPK1
21toll-like receptor 4 signaling pathwayGO:00341429.7MAP2K1, MAP2K2, MAPK1
22toll-like receptor 5 signaling pathwayGO:00341469.7MAP2K1, MAP2K2, MAPK1
23toll-like receptor 9 signaling pathwayGO:00341629.7MAP2K1, MAP2K2, MAPK1
24toll-like receptor 10 signaling pathwayGO:00341669.7MAP2K1, MAP2K2, MAPK1
25TRIF-dependent toll-like receptor signaling pathwayGO:00356669.7MAP2K1, MAP2K2, MAPK1
26toll-like receptor TLR1:TLR2 signaling pathwayGO:00381239.7MAP2K1, MAP2K2, MAPK1
27chemotaxisGO:00069359.7HRAS, MAP2K1, MAPK1
28toll-like receptor TLR6:TLR2 signaling pathwayGO:00381249.7MAP2K1, MAP2K2, MAPK1
29stress-activated MAPK cascadeGO:00514039.7MAP2K1, MAP2K2, MAPK1
30positive regulation of gene expressionGO:00106289.6BRAF, HRAS, KRAS, MAP2K1
31positive regulation of Ras protein signal transductionGO:00465799.6HRAS, MAP2K1, SHOC2
32stimulatory C-type lectin receptor signaling pathwayGO:00022239.4HRAS, KRAS, NRAS, RAF1
33activation of MAPK activityGO:00001879.3MAP2K1, MAP2K2, MAPK1, PTPN11
34synaptic transmissionGO:00072689.1BRAF, HRAS, MAPK1, RAF1
35leukocyte migrationGO:00509009.0HRAS, KRAS, NRAS, PTPN11, SOS1
36protein phosphorylationGO:00064689.0BRAF, MAP2K1, MAP2K2, MAPK1, RAF1
37signal transductionGO:00071657.2BRAF, HRAS, KRAS, MAP2K1, MAPK1, NRAS
38blood coagulationGO:00075967.1HRAS, KRAS, MAPK1, NRAS, PTPN11, RAF1
39MAPK cascadeGO:00001656.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
40activation of MAPKK activityGO:00001866.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
41vascular endothelial growth factor receptor signaling pathwayGO:00480106.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
42insulin receptor signaling pathwayGO:00082866.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
43Fc-epsilon receptor signaling pathwayGO:00380956.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
44neurotrophin TRK receptor signaling pathwayGO:00480116.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
45small GTPase mediated signal transductionGO:00072646.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
46epidermal growth factor receptor signaling pathwayGO:00071736.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
47axon guidanceGO:00074116.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
48innate immune responseGO:00450876.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
49Ras protein signal transductionGO:00072656.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
50fibroblast growth factor receptor signaling pathwayGO:00085435.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1MAP kinase kinase activityGO:000470810.4MAP2K1, MAP2K2
2small GTPase bindingGO:003126710.3BRAF, RAF1
3protein serine/threonine kinase activator activityGO:004353910.3MAP2K1, MAP2K2
4Ras GTPase bindingGO:001701610.3MAP2K1, RAF1
5mitogen-activated protein kinase kinase bindingGO:003143410.3BRAF, RAF1
6mitogen-activated protein kinase kinase kinase bindingGO:00314359.9MAP2K1, MAPK1
7protein serine/threonine kinase activityGO:00046748.5BRAF, MAP2K1, MAP2K2, MAPK1, RAF1
8protein kinase activityGO:00046728.2BRAF, MAP2K1, MAP2K2, MAPK1, RAF1

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