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

About this section
Sources:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 28ICD10, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cardiofaciocutaneous Syndrome:

Name: Cardiofaciocutaneous Syndrome 50 11 22 46 23 24 13 52 25 12
Cfc Syndrome 11 22 46 23 24 52 68 48
Cardio-Facio-Cutaneous Syndrome 46 23 24 68
Cardiofaciocutaneous Syndrome 1 68 25
 
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities and Growth Failure 46
Cardio-Facial-Cutaneous Syndrome 11
Cfcs 68
Cfc1 68

Characteristics:

Orphanet epidemiological data:

52
cardiofaciocutaneous syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

62
cardiofaciocutaneous syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM50 115150
Disease Ontology11 DOID:0060233
ICD1028 Q87.8
Orphanet52 ORPHA1340
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 C535579
UMLS via Orphanet67 C1275081
MedGen35 C1275081

Summaries for Cardiofaciocutaneous Syndrome

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OMIM:50 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 tongue, and related mouse phenotypes are muscle and hearing/vestibular/ear.

Disease Ontology:11 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:24 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:46 Cardiofaciocutaneous (cfc) syndrome is a disorder that affects many parts of the body, particularly the heart, face, skin, and hair. people with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. the signs and symptoms of cfc syndrome overlap significantly with those of two other conditions, costello syndrome and noonan syndrome. these syndromes belong to a group of related conditions called the rasopathies, which are distinguished by their genetic causes and specific pattern of features. it can sometimes be hard to tell these conditions apart in infancy. cfc syndrome is usually caused by a mutation in the braf gene, but can also be due to a mutation in the map2k1, map2k2 or kras gene. it is an autosomal dominant condition, but most cases are not inherited, due to a new mutation that occurs for the first time in an affected person. treatment depends on the symptoms in each person and may include surgery for heart defects. last updated: 5/6/2015

UniProtKB/Swiss-Prot:68 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:69 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 99)
idRelated DiseaseScoreTop Affiliating Genes
1cardiofaciocutaneous syndrome 312.1
2cardiofaciocutaneous syndrome 212.1
3cardiofaciocutaneous syndrome 412.1
4braf-related cardiofaciocutaneous syndrome11.9
5kras-related cardiofaciocutaneous syndrome11.9
6map2k1-related cardiofaciocutaneous syndrome11.9
7map2k2-related cardiofaciocutaneous syndrome11.9
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
22pulmonary venoocclusive disease10.6BRAF, KRAS
23growth hormone insensitivity with immunodeficiency10.6MAP2K2, PTPN11
24split hand split foot malformation autosomal recessive10.6BRAF, HRAS
25mediastinum teratoma10.5BRAF, KRAS
26vagina sarcoma10.5HRAS, KRAS
27glomerulosclerosis10.5HRAS, KRAS
28follicular mucinosis10.5PTPN11, SOS1
29epidermal nevus, somatic10.5HRAS, KRAS
30schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.5HRAS, KRAS
31fibroma10.5BRAF, KRAS
32myxosarcoma10.5HRAS, KRAS
33seminal vesicle chronic gonorrhea10.5HRAS, KRAS
34radiation cystitis10.5BRAF, MAP2K7
35ureter adenocarcinoma10.5HRAS, KRAS
36trachea adenoid cystic carcinoma10.4HRAS, KRAS
37sexual masochism10.4KRAS, RAF1
38breast papillary carcinoma10.4HRAS, KRAS
39spindle epithelial tumor with thymus-like differentiation tumor10.4HRAS, KRAS
40uterine ligament serous adenocarcinoma10.4HRAS, KRAS
41brachial plexus neuritis10.4KRAS, RAF1
42appendix mucinous cystadenocarcinoma10.4HRAS, KRAS
43bladder benign neoplasm10.4KRAS, RAF1
44tabes dorsalis10.4HRAS, KRAS
45acanthoma10.4HRAS, KRAS
46adenofibroma10.4HRAS, KRAS
47migraine with aura10.3HRAS, KRAS
48ovarian serous adenofibroma10.3HRAS, KRAS
49arteritic anterior ischemic optic neuropathy10.3BRAF, HRAS, KRAS
50atrial standstill10.3BRAF, HRAS, KRAS

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:

 52 (show all 79)
  • cryptorchidism
  • hydronephrosis
  • submucous cleft hard palate
  • high palate
  • hydrocephalus
  • macrocephaly
  • long face
  • coarse facial features
  • epicanthus
  • full cheeks
  • hypertelorism
  • long philtrum
  • high forehead
  • low-set, posteriorly rotated ears
  • thickened helices
  • macrotia
  • anteverted nares
  • webbed neck
  • short neck
  • abnormality of the eye
  • strabismus
  • downslanted palpebral fissures
  • abnormality of the eyelashes
  • abnormality of vision
  • ptosis
  • myopia
  • long palpebral fissure
  • nystagmus
  • optic atrophy
  • pectus excavatum
  • dry skin
  • hyperkeratosis
  • hyperextensible skin
  • palmoplantar keratoderma
  • multiple lentigines
  • lymphedema
  • cavernous hemangioma
  • intellectual disability
  • muscular hypotonia
  • dysarthria
  • global developmental delay
  • failure to thrive in infancy
  • redundant skin
  • premature birth
  • defect in the atrial septum
  • hypertrophic cardiomyopathy
  • pulmonic stenosis
  • abnormality of the heart valves
  • frontal bossing
  • cerebral cortical atrophy
  • low posterior hairline
  • neurological speech impairment
  • fine hair
  • slow-growing hair
  • brittle hair
  • eeg abnormality
  • malformation of the heart and great vessels
  • scoliosis
  • genu valgum
  • cubitus valgus
  • abnormality of the ulna
  • short nose
  • short stature
  • biparietal narrowing
  • depressed nasal bridge
  • deep palmar crease
  • excessive wrinkled skin
  • generalized hyperpigmentation
  • multiple cafe-au-lait spots
  • ichthyosis
  • sparse hair
  • dystrophic fingernails
  • feeding difficulties in infancy
  • underdeveloped supraorbital ridges
  • cheekbone underdevelopment
  • abnormality of the gastrointestinal tract
  • functional abnormality of the gastrointestinal tract
  • aplasia/hypoplasia of the eyebrow
  • sparse or absent eyelashes

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 hydronephrosis HP:0000126
68 submucous cleft hard palate HP:0000176
69 open mouth HP:0000194
70 high palate HP:0000218
71 hydrocephalus HP:0000238
72 dolichocephaly HP:0000268
73 coarse facial features HP:0000280
74 epicanthus HP:0000286
75 hypertelorism HP:0000316
76 narrow forehead HP:0000341
77 micrognathia HP:0000347
78 posteriorly rotated ears HP:0000358
79 hearing impairment HP:0000365
80 low-set ears HP:0000369
81 bulbous nose HP:0000414
82 anteverted nares HP:0000463
83 strabismus HP:0000486
84 downslanted palpebral fissures HP:0000494
85 ptosis HP:0000508
86 proptosis HP:0000520
87 progressive visual loss HP:0000529
88 myopia HP:0000545
89 absent eyelashes HP:0000561
90 nystagmus HP:0000639
91 oculomotor apraxia HP:0000657
92 dental malocclusion HP:0000689
93 pectus excavatum HP:0000767
94 pectus carinatum HP:0000768
95 osteopenia HP:0000938
96 hyperkeratosis HP:0000962
97 multiple lentigines HP:0001003
98 atopic dermatitis HP:0001047
99 cavernous hemangioma HP:0001048
100 optic nerve dysplasia HP:0001093
101 hyperextensibility of the finger joints HP:0001187
102 intellectual disability HP:0001249
103 seizures HP:0001250
104 muscular hypotonia HP:0001252
105 hypertonia HP:0001276
106 failure to thrive HP:0001508
107 polyhydramnios HP:0001561
108 premature birth HP:0001622
109 atria septal defect HP:0001631
110 hypertrophic cardiomyopathy HP:0001639
111 pulmonic stenosis HP:0001642
112 splenomegaly HP:0001744
113 deep philtrum HP:0002002
114 vomiting HP:0002013
115 constipation HP:0002019
116 gastroesophageal reflux HP:0002020
117 cerebral cortical atrophy HP:0002120
118 curly hair HP:0002212
119 slow-growing hair HP:0002217
120 absent eyebrow HP:0002223
121 delayed skeletal maturation HP:0002750
122 short nose HP:0003196
123 clinodactyly of the 5th finger HP:0004209
124 short stature HP:0004322
125 relative macrocephaly HP:0004482
126 depressed nasal bridge HP:0005280
127 multiple palmar creases HP:0006114
128 hypoplasia of the frontal lobes HP:0007333
129 aplasia/hypoplasia of the corpus callosum HP:0007370
130 ichthyosis HP:0008064
131 sparse hair HP:0008070
132 multiple plantar creases HP:0008113
133 feeding difficulties in infancy HP:0008872
134 underdeveloped supraorbital ridges HP:0009891
135 anterior creases of earlobe HP:0009908
136 open bite HP:0010807
137 prominent forehead HP:0011220
138 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 Syndrome 125
2 Cardiofaciocutaneous Syndrome25 23 MAP2K2

Anatomical Context for Cardiofaciocutaneous Syndrome

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MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome:

34
Heart, Skin, Tongue, Eye, Bone

Animal Models for Cardiofaciocutaneous Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome:

39 (show all 27)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5BRAF, KRAS, MAPK1, PTPN11, RAF1, SOS1
2MP:00053778.5BRAF, KRAS, MAP2K1, MAP2K2, MAPK1, PTPN11
3MP:00053818.4BRAF, KRAS, MAP2K1, MAP2K2, MAPK1, PTPN11
4MP:00020067.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
5MP:00053847.4BRAF, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
6MP:00053807.4BRAF, KRAS, MAP2K1, MAPK1, PTPN11, RAF1
7MP:00053867.3BRAF, HRAS, KRAS, MAP2K2, MAP2K7, MAPK1
8MP:00053907.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
9MP:00053887.2BRAF, HRAS, KRAS, MAPK1, PTPN11, RAF1
10MP:00053917.2BRAF, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
11MP:00053827.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
12MP:00028737.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
13MP:00053796.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
14MP:00036316.6BRAF, HRAS, KRAS, MAP2K1, MAP2K7, MAPK1
15MP:00053856.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
16MP:00107716.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
17MP:00107686.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
18MP:00053786.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
19MP:00053765.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7

Publications for Cardiofaciocutaneous Syndrome

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Articles related to Cardiofaciocutaneous Syndrome:

(show all 36)
idTitleAuthorsYear
1
Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome. (26842671)
2016
2
Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience. (27149079)
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
Emergence of a Genetic Diagnosis: Case Presentation of a Preterm Infant With Cardiofaciocutaneous Syndrome. (26225596)
2015
6
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation. (25487361)
2015
7
Anesthesia for a pediatric patient with cardiofaciocutaneous syndrome. (25827862)
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
The perinatal presentation of cardiofaciocutaneous syndrome. (24719372)
2014
11
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. (25250515)
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
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. (20523244)
2011
18
Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. (21178588)
2011
19
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. (21062266)
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:

68 (show all 24)
id Symbol AA change Variation ID SNP ID
1BRAFp.Gly469GluVAR_018621rs121913355
2BRAFp.Phe595LeuVAR_018625rs121913341
3BRAFp.Ala246ProVAR_026113rs180177034
4BRAFp.Gln257ArgVAR_026114rs180177035
5BRAFp.Leu485PheVAR_026115rs180177036
6BRAFp.Lys499GluVAR_026116rs180177037
7BRAFp.Glu501GlyVAR_026117rs180177039
8BRAFp.Glu501LysVAR_026118rs180177038
9BRAFp.Asn581AspVAR_026119rs180177040
10BRAFp.Ser467AlaVAR_035096
11BRAFp.Phe468SerVAR_035097rs397507473
12BRAFp.Gly596ValVAR_035098rs397507483
13BRAFp.Thr241ProVAR_058621rs387906661
14BRAFp.Leu245PheVAR_058623rs397507466
15BRAFp.Glu275LysVAR_058624
16BRAFp.Lys499AsnVAR_058625rs397507476
17BRAFp.Leu525ProVAR_058626
18BRAFp.Thr599ArgVAR_058628
19BRAFp.Lys601GlnVAR_058629rs121913364
20BRAFp.Asp638GluVAR_058630rs180177042
21BRAFp.Gln709ArgVAR_058631rs397507486
22BRAFp.Thr244ProVAR_065171rs397507465
23BRAFp.Gln262LysVAR_065172rs397507470
24BRAFp.Asn580AspVAR_065173

Clinvar genetic disease variations for Cardiofaciocutaneous Syndrome:

5 (show all 41)
id Gene Variation Type Significance SNP ID Assembly Location
1MAP2K1NM_002755.3(MAP2K1): c.389A> G (p.Tyr130Cys)single nucleotide variantPathogenicrs121908595GRCh37Chr 15, 66729181: 66729181
2MAP2K1NM_002755.3(MAP2K1): c.383G> T (p.Gly128Val)single nucleotide variantLikely pathogenic, Pathogenicrs121908596GRCh37Chr 15, 66729175: 66729175
3BRAFNM_004333.4(BRAF): c.1799T> A (p.Val600Glu)single nucleotide variantPathogenicrs113488022GRCh37Chr 7, 140453136: 140453136
4BRAFNM_004333.4(BRAF): c.736G> C (p.Ala246Pro)single nucleotide variantPathogenicrs180177034GRCh37Chr 7, 140501336: 140501336
5BRAFNM_004333.4(BRAF): c.770A> G (p.Gln257Arg)single nucleotide variantPathogenicrs180177035GRCh37Chr 7, 140501302: 140501302
6BRAFNM_004333.4(BRAF): c.1406G> A (p.Gly469Glu)single nucleotide variantPathogenicrs121913355GRCh37Chr 7, 140481402: 140481402
7BRAFNM_004333.4(BRAF): c.1455G> C (p.Leu485Phe)single nucleotide variantPathogenicrs180177036GRCh37Chr 7, 140477853: 140477853
8BRAFNM_004333.4(BRAF): c.1495A> G (p.Lys499Glu)single nucleotide variantLikely pathogenic, Pathogenicrs180177037GRCh37Chr 7, 140477813: 140477813
9BRAFNM_004333.4(BRAF): c.1501G> A (p.Glu501Lys)single nucleotide variantLikely pathogenic, Pathogenicrs180177038GRCh37Chr 7, 140477807: 140477807
10BRAFNM_004333.4(BRAF): c.1502A> G (p.Glu501Gly)single nucleotide variantPathogenicrs180177039GRCh37Chr 7, 140477806: 140477806
11BRAFNM_004333.4(BRAF): c.1741A> G (p.Asn581Asp)single nucleotide variantPathogenicrs180177040GRCh37Chr 7, 140453987: 140453987
12BRAFNM_004333.4(BRAF): c.1600G> C (p.Gly534Arg)single nucleotide variantPathogenicrs180177041GRCh37Chr 7, 140476806: 140476806
13BRAFNM_004333.4(BRAF): c.1914T> A (p.Asp638Glu)single nucleotide variantPathogenicrs180177042GRCh37Chr 7, 140449165: 140449165
14BRAFNM_004333.4(BRAF): c.1914T> G (p.Asp638Glu)single nucleotide variantPathogenicrs180177042GRCh37Chr 7, 140449165: 140449165
15BRAFNM_004333.4(BRAF): c.1785T> G (p.Phe595Leu)single nucleotide variantLikely pathogenic, Pathogenicrs121913341GRCh37Chr 7, 140453150: 140453150
16MAP2K2NM_030662.3(MAP2K2): c.401A> G (p.Tyr134Cys)single nucleotide variantLikely pathogenic, Pathogenicrs727504370GRCh37Chr 19, 4110556: 4110556
17BRAFNM_004333.4(BRAF): c.1783T> C (p.Phe595Leu)single nucleotide variantPathogenicrs794729219GRCh37Chr 7, 140453152: 140453152
18BRAFNM_004333.4(BRAF): c.1399T> G (p.Ser467Ala)single nucleotide variantPathogenicrs869025606GRCh37Chr 7, 140481409: 140481409
19BRAFNM_004333.4(BRAF): c.1408_1410delACA (p.Thr470del)deletionPathogenicrs869025607GRCh37Chr 7, 140481398: 140481400
20MAP2K1NM_002755.3(MAP2K1): c.171G> T (p.Lys57Asn)single nucleotide variantPathogenicrs869025608GRCh38Chr 15, 66435117: 66435117
21KRASNM_004985.4(KRAS): c.211T> G (p.Tyr71Asp)single nucleotide variantLikely pathogenicrs387907205GRCh38Chr 12, 25227313: 25227313
22BRAFNM_004333.4(BRAF): c.721A> C (p.Thr241Pro)single nucleotide variantLikely pathogenic, Pathogenicrs387906661GRCh37Chr 7, 140501351: 140501351
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.1403T> C (p.Phe468Ser)single nucleotide variantPathogenicrs397507473GRCh37Chr 7, 140481405: 140481405
27BRAFNM_004333.4(BRAF): c.1447A> C (p.Lys483Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397507474GRCh37Chr 7, 140477861: 140477861
28BRAFNM_004333.4(BRAF): c.1454T> C (p.Leu485Ser)single nucleotide variantLikely pathogenic, Pathogenicrs397507475GRCh37Chr 7, 140477854: 140477854
29BRAFNM_004333.4(BRAF): c.1502A> T (p.Glu501Val)single nucleotide variantLikely pathogenic, Pathogenicrs180177039GRCh37Chr 7, 140477806: 140477806
30BRAFNM_004333.4(BRAF): c.1595G> A (p.Cys532Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs397507479GRCh37Chr 7, 140476811: 140476811
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
33BRAFNM_004333.4(BRAF): c.1799T> G (p.Val600Gly)single nucleotide variantPathogenicrs113488022GRCh37Chr 7, 140453136: 140453136
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.199G> A (p.Asp67Asn)single nucleotide variantPathogenicrs727504317GRCh37Chr 15, 66727483: 66727483
37BRAFNM_004333.4(BRAF): c.1720C> T (p.His574Tyr)single nucleotide variantPathogenicrs397516894GRCh37Chr 7, 140454008: 140454008
38BRAFNM_004333.4(BRAF): c.1743T> A (p.Asn581Lys)single nucleotide variantPathogenicrs397516895GRCh37Chr 7, 140453192: 140453192
39MAP2K2NM_030662.3(MAP2K2): c.170T> G (p.Phe57Cys)single nucleotide variantPathogenicrs121434497GRCh37Chr 19, 4117550: 4117550
40MAP2K2NM_030662.3(MAP2K2): c.400T> C (p.Tyr134His)single nucleotide variantLikely pathogenic, Pathogenicrs121434499GRCh37Chr 19, 4110557: 4110557
41MAP2K2NM_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 210)
idSuper pathwaysScoreTop Affiliating Genes
18.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
2
Show member pathways
8.0HRAS, MAP2K1, MAPK1, PTPN11, RAF1, SOS1
37.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
4
Show member pathways
7.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
57.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
67.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
7
Show member pathways
7.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
87.8BRAF, KRAS, MAP2K1, MAP2K2, MAPK1, RAF1
97.7BRAF, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
10
Show member pathways
7.7BRAF, HRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
117.7HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
12
Show member pathways
7.7HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
137.7HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
14
Show member pathways
7.7HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
15
Show member pathways
7.7HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
167.7HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
177.6HRAS, KRAS, MAP2K1, MAPK1, PTPN11, RAF1
18
Show member pathways
7.6HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
197.6HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
20
Show member pathways
7.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
21
Show member pathways
7.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
22
Show member pathways
7.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
23
Show member pathways
7.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
247.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
257.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
26
Show member pathways
7.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
27
Show member pathways
7.4HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, PTPN11
28
Show member pathways
7.4HRAS, KRAS, MAP2K1, MAP2K2, MAPK1, PTPN11
29
Show member pathways
7.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
30
Show member pathways
7.2HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
31
Show member pathways
7.2HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
32
Show member pathways
7.2HRAS, MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
337.2HRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1, PTPN11
347.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
35
Show member pathways
7.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
36
Show member pathways
7.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
37
Show member pathways
7.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
38
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
39
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
40
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
41
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
426.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
43
Show member pathways
6.8HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
44
Show member pathways
6.8HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
45
Show member pathways
6.8HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1
466.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
47
Show member pathways
6.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
48
Show member pathways
6.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
49
Show member pathways
6.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1
506.0HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7, MAPK1

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
1pseudopodiumGO:003114310.1MAPK1, RAF1
2late endosomeGO:00057709.9MAP2K1, MAP2K2, MAPK1
3focal adhesionGO:00059259.4KRAS, MAP2K1, MAP2K2, MAPK1
4Golgi apparatusGO:00057948.4HRAS, MAP2K1, MAP2K2, MAPK1, RAF1
5mitochondrionGO:00057398.3BRAF, KRAS, MAP2K1, MAP2K2, MAPK1, PTPN11
6cytosolGO:00058296.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7
7cytoplasmGO:00057375.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7

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

(show all 43)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of production of miRNAs involved in gene silencing by miRNAGO:190380010.7MAP2K1, MAP2K2
2epithelial cell proliferation involved in lung morphogenesisGO:006050210.6MAP2K1, MAP2K2
3cerebellar cortex formationGO:002169710.4MAP2K1, PTPN11
4cellular senescenceGO:009039810.4HRAS, MAP2K1
5positive regulation of axonogenesisGO:005077210.3BRAF, MAP2K1, MAP2K2
6regulation of axon regenerationGO:004867910.3BRAF, MAP2K1, MAP2K2
7ERBB signaling pathwayGO:003812710.2MAPK1, PTPN11
8lung morphogenesisGO:006042510.2MAP2K1, MAPK1
9proteolysis in other organismGO:003589710.1MAP2K1, MAP2K2, MAP2K7
10regulation of Golgi inheritanceGO:009017010.0MAP2K1, MAP2K2, MAPK1
11regulation of stress-activated MAPK cascadeGO:003287210.0MAP2K1, MAP2K2, MAPK1
12positive regulation of telomere cappingGO:190435510.0MAP2K7, MAPK1
13negative regulation of gene expressionGO:00106299.9HRAS, MAP2K1, MAP2K2
14ERBB2 signaling pathwayGO:00381289.9HRAS, KRAS, SOS1
15Bergmann glial cell differentiationGO:00600209.9MAP2K1, MAPK1, PTPN11
16stimulatory C-type lectin receptor signaling pathwayGO:00022239.9HRAS, KRAS, RAF1
17regulation of long-term neuronal synaptic plasticityGO:00481699.8HRAS, KRAS
18peptidyl-tyrosine phosphorylationGO:00181089.8MAP2K1, MAP2K2, MAP2K7
19positive regulation of protein phosphorylationGO:00019349.8HRAS, KRAS, RAF1
20negative regulation of neuron apoptotic processGO:00435249.8BRAF, HRAS, KRAS
21ERK1 and ERK2 cascadeGO:00703719.8MAP2K1, MAP2K2, MAPK1
22trachea formationGO:00604409.8MAP2K1, MAP2K2, MAPK1
23neurotrophin TRK receptor signaling pathwayGO:00480119.8PTPN11, RAF1, SOS1
24positive regulation of Ras protein signal transductionGO:00465799.7HRAS, SHOC2
25regulation of early endosome to late endosome transportGO:20006419.7MAP2K1, MAP2K2, MAPK1
26animal organ morphogenesisGO:00098879.7BRAF, HRAS, MAPK1
27chemotaxisGO:00069359.6HRAS, MAP2K1, MAPK1
28positive regulation of gene expressionGO:00106289.5BRAF, HRAS, KRAS, MAP2K1
29epidermal growth factor receptor signaling pathwayGO:00071739.5HRAS, KRAS, PTPN11, SOS1
30platelet activationGO:00301689.5MAPK1, PTPN11, RAF1
31leukocyte migrationGO:00509009.2HRAS, KRAS, PTPN11, SOS1
32thyroid gland developmentGO:00308789.2BRAF, MAP2K1, MAP2K2, MAPK1, RAF1
33face developmentGO:00603249.2BRAF, MAP2K1, MAP2K2, MAPK1, RAF1
34thymus developmentGO:00485389.1BRAF, MAP2K1, MAP2K2, MAPK1, RAF1
35positive regulation of ERK1 and ERK2 cascadeGO:00703748.9BRAF, HRAS, MAP2K1, MAP2K2, PTPN11
36activation of MAPK activityGO:00001878.8MAP2K1, MAP2K2, MAPK1, PTPN11
37Fc-epsilon receptor signaling pathwayGO:00380958.8HRAS, KRAS, MAP2K7, MAPK1, SOS1
38heart developmentGO:00075078.8MAP2K1, MAP2K2, MAPK1, PTPN11, RAF1
39Ras protein signal transductionGO:00072658.8HRAS, KRAS, SHOC2, SOS1
40axon guidanceGO:00074118.7HRAS, KRAS, MAPK1, SOS1
41fibroblast growth factor receptor signaling pathwayGO:00085438.7MAPK1, PTPN11, SHOC2, SPRED1
42signal transductionGO:00071657.5HRAS, MAP2K1, MAP2K7, MAPK1, RAF1, SOS1
43MAPK cascadeGO:00001657.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAPK1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activator activityGO:004353910.6MAP2K1, MAP2K2
2MAP kinase kinase kinase activityGO:000470910.5BRAF, RAF1
3small GTPase bindingGO:003126710.5BRAF, RAF1
4mitogen-activated protein kinase kinase bindingGO:003143410.3BRAF, RAF1
5MAP kinase kinase activityGO:000470810.2MAP2K1, MAP2K2, MAP2K7
6receptor signaling protein serine/threonine kinase activityGO:000470210.1MAP2K1, MAP2K2, MAP2K7
7protein tyrosine kinase activityGO:000471310.0MAP2K1, MAP2K2, MAP2K7
8mitogen-activated protein kinase kinase kinase bindingGO:003143510.0MAP2K7, MAPK1
9protein kinase activityGO:00046729.5BRAF, MAP2K1, MAPK1, RAF1
10protein serine/threonine kinase activityGO:00046749.0BRAF, MAP2K1, MAP2K2, MAPK1, RAF1
11protein kinase bindingGO:00199018.8MAP2K1, MAP2K7, MAPK1, SPRED1
12ATP bindingGO:00055248.2BRAF, MAP2K1, MAP2K2, MAP2K7, MAPK1, RAF1
13protein bindingGO:00055155.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MAP2K7

Sources for Cardiofaciocutaneous Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet