CFC2
MCID: CRD163
MIFTS: 32

Cardiofaciocutaneous Syndrome 2 (CFC2)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Cardiofaciocutaneous Syndrome 2

MalaCards integrated aliases for Cardiofaciocutaneous Syndrome 2:

Name: Cardiofaciocutaneous Syndrome 2 57 11 73 28 5 14 71
Cfc2 57 11 73
Cardiofaciocutaneous Syndrome, Type 2 38

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



Summaries for Cardiofaciocutaneous Syndrome 2

UniProtKB/Swiss-Prot: 73 A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. 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. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1.

MalaCards based summary: Cardiofaciocutaneous Syndrome 2, also known as cfc2, is related to bile duct cysts and cardiofaciocutaneous syndrome 1. An important gene associated with Cardiofaciocutaneous Syndrome 2 is KRAS (KRAS Proto-Oncogene, GTPase). Affiliated tissues include heart, skin and bone marrow, and related phenotypes are ptosis and high palate

OMIM®: 57 Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (164757)-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutations. (615278) (Updated 08-Dec-2022)

Disease Ontology: 11 A cardiofaciocutaneous syndrome that has material basis in heterozygous mutation in KRAS on chromosome 12p12.1.

Related Diseases for Cardiofaciocutaneous Syndrome 2

Diseases in the Cardiofaciocutaneous Syndrome 1 family:

Cardiofaciocutaneous Syndrome 2 Cardiofaciocutaneous Syndrome 3
Cardiofaciocutaneous Syndrome 4

Diseases related to Cardiofaciocutaneous Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bile duct cysts 9.9 KRAS CFC1
2 cardiofaciocutaneous syndrome 1 9.8 KRAS CFC1
3 cardiofaciocutaneous syndrome 3 8.7 SPATA46 FBXO43 FAM172A CLP1 CFC1 ARMC2

Symptoms & Phenotypes for Cardiofaciocutaneous Syndrome 2

Human phenotypes related to Cardiofaciocutaneous Syndrome 2:

30 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 30 HP:0000508
2 high palate 30 HP:0000218
3 coarse facial features 30 HP:0000280
4 global developmental delay 30 HP:0001263
5 anteverted nares 30 HP:0000463
6 low-set ears 30 HP:0000369
7 myopia 30 HP:0000545
8 mitral valve prolapse 30 HP:0001634
9 fine hair 30 HP:0002213
10 broad forehead 30 HP:0000337
11 sparse hair 30 HP:0008070
12 posteriorly rotated ears 30 HP:0000358
13 absent eyebrow 30 HP:0002223
14 curly hair 30 HP:0002212
15 peripheral axonal neuropathy 30 HP:0003477

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
nystagmus
sparse eyelashes
downslanting palpebral fissures
absent eyebrows

Head And Neck Nose:
depressed nasal bridge
anteverted nares

Head And Neck Ears:
low-set ears
posteriorly rotated ears
helix abnormalities

Cardiovascular Heart:
pulmonic stenosis
cardiomyopathy

Head And Neck Mouth:
high-arched palate

Head And Neck Head:
macrocephaly, relative
high cranial vault

Skin Nails Hair Nails:
dystrophic toe nails (in 1 patient)

Head And Neck Neck:
short neck
excess nuchal skin

Growth Height:
short stature

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Hair:
sparse hair
sparse eyelashes
curly hair
absent eyebrows

Neurologic Central Nervous System:
mental retardation

Head And Neck Face:
bitemporal narrowing
hypoplastic supraorbital ridge

Clinical features from OMIM®:

615278 (Updated 08-Dec-2022)

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome 2

Search Clinical Trials, NIH Clinical Center for Cardiofaciocutaneous Syndrome 2

Genetic Tests for Cardiofaciocutaneous Syndrome 2

Genetic tests related to Cardiofaciocutaneous Syndrome 2:

# Genetic test Affiliating Genes
1 Cardiofaciocutaneous Syndrome 2 28 KRAS

Anatomical Context for Cardiofaciocutaneous Syndrome 2

Organs/tissues related to Cardiofaciocutaneous Syndrome 2:

MalaCards : Heart, Skin, Bone Marrow, Liver, Bone
ODiseA: Heart-Atrium, Heart-Ventricle, Heart, Skin

Publications for Cardiofaciocutaneous Syndrome 2

Articles related to Cardiofaciocutaneous Syndrome 2:

(show all 16)
# Title Authors PMID Year
1
Two novel germline KRAS mutations: expanding the molecular and clinical phenotype. 57 5
21797849 2012
2
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 57 5
16474404 2006
3
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 5
24803665 2014
4
Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes. 5
23059812 2013
5
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 5
20949621 2011
6
The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. 5
18386799 2008
7
Peripheral neuropathy in cardiofaciocutaneous syndrome. 57
17437909 2007
8
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 5
17056636 2007
9
Germline KRAS mutations cause Noonan syndrome. 5
16474405 2006
10
Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. 57
16007634 2005
11
Cardio-facio-cutaneous (CFC) syndrome--a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome. 57
9272711 1997
12
Enriching the design of Alzheimer's disease clinical trials: Application of the polygenic hazard score and composite outcome measures. 62
32999917 2020
13
Adsorption of cadmium and lead ions by phosphoric acid-modified biochar generated from chicken feather: Selective adsorption and influence of dissolved organic matter. 62
31408776 2019
14
Improvement of the bioluminescence reporter system for real-time monitoring of circadian rhythms in the cyanobacterium Synechocystis sp. strain PCC 6803. 62
15824452 2005
15
Chick CFC controls Lefty1 expression in the embryonic midline and nodal expression in the lateral plate. 62
11397007 2001
16
The proliferative status of haematopoietic progenitor cells in the developing murine liver and adult bone marrow. 62
9877299 1998

Variations for Cardiofaciocutaneous Syndrome 2

ClinVar genetic disease variations for Cardiofaciocutaneous Syndrome 2:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRAS NM_033360.4(KRAS):c.211T>C (p.Tyr71His) SNV Pathogenic
31940 rs387907205 GRCh37: 12:25380247-25380247
GRCh38: 12:25227313-25227313
2 KRAS NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) SNV Pathogenic
31941 rs387907206 GRCh37: 12:25378559-25378559
GRCh38: 12:25225625-25225625
3 KRAS NM_033360.4(KRAS):c.*22C>G SNV Pathogenic
12595 rs104894362 GRCh37: 12:25362828-25362828
GRCh38: 12:25209894-25209894
4 KRAS NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) SNV Pathogenic
12586 rs104894359 GRCh37: 12:25380280-25380280
GRCh38: 12:25227346-25227346
5 KRAS NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) SNV Pathogenic
Pathogenic
12590 rs104894366 GRCh37: 12:25398218-25398218
GRCh38: 12:25245284-25245284
6 KRAS NM_004985.5(KRAS):c.458A>T (p.Asp153Val) SNV Pathogenic
Pathogenic
12587 rs104894360 GRCh37: 12:25362838-25362838
GRCh38: 12:25209904-25209904
7 KRAS NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) SNV Pathogenic
12594 rs104894361 GRCh37: 12:25398304-25398304
GRCh38: 12:25245370-25245370
8 KRAS NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) SNV Pathogenic
40452 rs727503110 GRCh37: 12:25398254-25398254
GRCh38: 12:25245320-25245320
9 KRAS NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) SNV Likely Pathogenic
40460 rs730880471 GRCh37: 12:25378643-25378643
GRCh38: 12:25225709-25225709
10 KRAS NM_033360.4(KRAS):c.112-5C>T SNV Uncertain Significance
626130 rs376520586 GRCh37: 12:25380351-25380351
GRCh38: 12:25227417-25227417
11 KRAS NM_004985.5(KRAS):c.58A>G (p.Thr20Ala) SNV Uncertain Significance
1098601 GRCh37: 12:25398261-25398261
GRCh38: 12:25245327-25245327

UniProtKB/Swiss-Prot genetic disease variations for Cardiofaciocutaneous Syndrome 2:

73
# Symbol AA change Variation ID SNP ID
1 KRAS p.Pro34Arg VAR_026110 rs104894366
2 KRAS p.Gly60Arg VAR_026112 rs104894359
3 KRAS p.Gln22Glu VAR_064850 rs121913236
4 KRAS p.Tyr71His VAR_069784 rs387907205
5 KRAS p.Lys147Glu VAR_069785 rs387907206

Expression for Cardiofaciocutaneous Syndrome 2

Search GEO for disease gene expression data for Cardiofaciocutaneous Syndrome 2.

Pathways for Cardiofaciocutaneous Syndrome 2

GO Terms for Cardiofaciocutaneous Syndrome 2

Sources for Cardiofaciocutaneous Syndrome 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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