CFC2
MCID: CRD163
MIFTS: 39

Cardiofaciocutaneous Syndrome 2 (CFC2)

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

Aliases & Classifications for Cardiofaciocutaneous Syndrome 2

MalaCards integrated aliases for Cardiofaciocutaneous Syndrome 2:

Name: Cardiofaciocutaneous Syndrome 2 56 12 73 29 6 15 71
Cfc2 56 12 73
Cardiofaciocutaneous Syndrome, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cardiofaciocutaneous syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiofaciocutaneous Syndrome 2

UniProtKB/Swiss-Prot : 73 Cardiofaciocutaneous syndrome 2: A form of cardiofaciocutaneous syndrome, 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. 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 colorectal cancer, hereditary nonpolyposis, type 2 and cardiofaciocutaneous syndrome 1. An important gene associated with Cardiofaciocutaneous Syndrome 2 is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Signaling by NODAL and Differentiation Pathway. Affiliated tissues include skin, heart and bone marrow, and related phenotypes are coarse facial features and global developmental delay

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

OMIM : 56 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 mutation. (615278)

Related Diseases for Cardiofaciocutaneous Syndrome 2

Graphical network of the top 20 diseases related to Cardiofaciocutaneous Syndrome 2:



Diseases related to Cardiofaciocutaneous Syndrome 2

Symptoms & Phenotypes for Cardiofaciocutaneous Syndrome 2

Human phenotypes related to Cardiofaciocutaneous Syndrome 2:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 coarse facial features 31 HP:0000280
2 global developmental delay 31 HP:0001263
3 anteverted nares 31 HP:0000463
4 high palate 31 HP:0000218
5 low-set ears 31 HP:0000369
6 ptosis 31 HP:0000508
7 myopia 31 HP:0000545
8 mitral valve prolapse 31 HP:0001634
9 fine hair 31 HP:0002213
10 broad forehead 31 HP:0000337
11 sparse hair 31 HP:0008070
12 posteriorly rotated ears 31 HP:0000358
13 absent eyebrow 31 HP:0002223
14 curly hair 31 HP:0002212
15 peripheral axonal neuropathy 31 HP:0003477

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
anteverted nares

Growth Height:
short stature

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

Head And Neck Eyes:
nystagmus
sparse eyelashes
downslanting palpebral fissures
absent eyebrows

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

MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.61 AGBL2 AGBL3 AGBL4 AGBL5 CCPG1 CSF1
2 respiratory system MP:0005388 9.02 CSF1 KRAS LEFTY1 NKX3-2 SPTA1

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 29 KRAS

Anatomical Context for Cardiofaciocutaneous Syndrome 2

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 2:

40
Skin, Heart, Bone Marrow, Bone, Liver

Publications for Cardiofaciocutaneous Syndrome 2

Articles related to Cardiofaciocutaneous Syndrome 2:

(show all 14)
# Title Authors PMID Year
1
Two novel germline KRAS mutations: expanding the molecular and clinical phenotype. 56 6
21797849 2012
2
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 6 56
16474404 2006
3
Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes. 6
23059812 2013
4
The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. 6
18386799 2008
5
Peripheral neuropathy in cardiofaciocutaneous syndrome. 56
17437909 2007
6
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 6
17056636 2007
7
Cardiofaciocutaneous Syndrome 6
20301365 2007
8
Germline KRAS mutations cause Noonan syndrome. 6
16474405 2006
9
Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. 56
16007634 2005
10
Cardio-facio-cutaneous (CFC) syndrome--a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome. 56
9272711 1997
11
Adsorption of cadmium and lead ions by phosphoric acid-modified biochar generated from chicken feather: Selective adsorption and influence of dissolved organic matter. 61
31408776 2019
12
Improvement of the bioluminescence reporter system for real-time monitoring of circadian rhythms in the cyanobacterium Synechocystis sp. strain PCC 6803. 61
15824452 2005
13
Chick CFC controls Lefty1 expression in the embryonic midline and nodal expression in the lateral plate. 61
11397007 2001
14
The proliferative status of haematopoietic progenitor cells in the developing murine liver and adult bone marrow. 61
9877299 1998

Variations for Cardiofaciocutaneous Syndrome 2

ClinVar genetic disease variations for Cardiofaciocutaneous Syndrome 2:

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

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
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

Pathways related to Cardiofaciocutaneous Syndrome 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.65 LEFTY1 CFC1
2 10.3 LEFTY1 CSF1

GO Terms for Cardiofaciocutaneous Syndrome 2

Biological processes related to Cardiofaciocutaneous Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.62 AGBL5 AGBL4 AGBL3 AGBL2
2 determination of left/right symmetry GO:0007368 9.33 NKX3-2 LEFTY1 CFC1
3 homeostasis of number of cells within a tissue GO:0048873 9.26 KRAS CSF1
4 protein deglutamylation GO:0035608 8.96 AGBL5 AGBL4
5 protein side chain deglutamylation GO:0035610 8.8 AGBL4 AGBL3 AGBL2

Molecular functions related to Cardiofaciocutaneous Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.62 AGBL5 AGBL4 AGBL3 AGBL2
2 peptidase activity GO:0008233 9.56 AGBL5 AGBL4 AGBL3 AGBL2
3 metallopeptidase activity GO:0008237 9.46 AGBL5 AGBL4 AGBL3 AGBL2
4 tubulin binding GO:0015631 9.37 AGBL5 AGBL4
5 carboxypeptidase activity GO:0004180 9.26 AGBL5 AGBL4 AGBL3 AGBL2
6 metallocarboxypeptidase activity GO:0004181 8.92 AGBL5 AGBL4 AGBL3 AGBL2

Sources for Cardiofaciocutaneous Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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