CHAR
MCID: CHR101
MIFTS: 51

Char Syndrome (CHAR)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Char Syndrome

MalaCards integrated aliases for Char Syndrome:

Name: Char Syndrome 57 12 24 53 25 59 75 37 29 13 55 6 44 15 40 73
Patent Ductus Arteriosus with Facial Dysmorphism and Abnormal Fifth Digits 57 53 25 59
Char 57 53 75

Characteristics:

Orphanet epidemiological data:

59
char syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability, with some family members exhibiting only facial dysmorphism and clinodactyly


HPO:

32
char syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance The penetrance of char syndrome has not been determined formally. one asymptomatic individual with a tfap2b pathogenic variant has been described [mani et al 2005]...

Classifications:



External Ids:

OMIM 57 169100
Disease Ontology 12 DOID:0060563
Orphanet 59 ORPHA46627
UMLS via Orphanet 74 C1868570
ICD10 via Orphanet 34 Q87.8
MESH via Orphanet 45 C538076
MedGen 42 C1868570
KEGG 37 H00555
UMLS 73 C1868570

Summaries for Char Syndrome

NIH Rare Diseases : 53 Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene and is inherited in an autosomal dominant fashion.

MalaCards based summary : Char Syndrome, also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits, is related to patent ductus arteriosus 1 and exencephaly. An important gene associated with Char Syndrome is TFAP2B (Transcription Factor AP-2 Beta), and among its related pathways/superpathways are Phospholipase-C Pathway and NFAT and Cardiac Hypertrophy. Affiliated tissues include heart, bone and eye, and related phenotypes are malar flattening and hypertelorism

Disease Ontology : 12 A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.

Genetics Home Reference : 25 Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities.

UniProtKB/Swiss-Prot : 75 Char syndrome: An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

Description from OMIM: 169100
GeneReviews: NBK1106

Related Diseases for Char Syndrome

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 patent ductus arteriosus 1 32.2 TFAP2B TFAP2A NKX2-5 ACTA2
2 exencephaly 10.1 TFAP2B TFAP2A CITED2
3 aortic aneurysm, familial thoracic 2 10.1 FBN1 ACTA2
4 familial abdominal aortic aneurysm 10.1 FBN1 COL3A1
5 lens subluxation 10.0 TFAP2A FBN1
6 heart septal defect 10.0 TBX5 NKX2-5 CITED2
7 atrioventricular septal defect 10.0 TBX5 NKX2-5 EVC
8 atrial heart septal defect 10.0 TBX5 NKX2-5 EVC
9 polydactyly, postaxial, type a1 10.0 EVC BMP4
10 dental pulp calcification 10.0 TGFBR2 FBN1
11 patent foramen ovale 10.0 TBX5 NKX2-5 CITED2
12 eisenmenger syndrome 10.0 TGFBR2 NKX2-5 CITED2
13 tricuspid valve insufficiency 10.0 FBN1 CPB1
14 connective tissue disease 9.9 FBN1 COL3A1 ACTA2
15 aortic disease 9.9 TGFBR2 FBN1 ACTA2
16 tricuspid valve disease 9.9 NKX2-5 FBN1
17 familial thoracic aortic aneurysm and dissection 9.9 TGFBR2 FBN1 COL3A1
18 loeys-dietz syndrome 1 9.9 TGFBR2 FBN1 COL3A1
19 ventricular septal defect 9.9 TBX5 NKX2-5 EVC CITED2
20 mitral valve insufficiency 9.9 TBX5 FBN1
21 orofacial cleft 9.8 TGFBR2 TFAP2A BMP4
22 tetralogy of fallot 9.8 TBX5 NKX2-5 FBN1 CITED2
23 loeys-dietz syndrome 3 9.8 TGFBR2 FBN1 COL3A1 ACTA2
24 loeys-dietz syndrome 9.8 TGFBR2 FBN1 COL3A1 ACTA2
25 aortic aneurysm, familial thoracic 1 9.8 TGFBR2 FBN1 COL3A1 ACTA2
26 aortic aneurysm 9.8 TGFBR2 FBN1 COL3A1 ACTA2
27 holt-oram syndrome 9.8 TBX5 NKX2-5 EP300
28 marfan syndrome 9.8 TGFBR2 FBN1 COL3A1 ACTA2
29 cleft palate, isolated 9.8 TGFBR2 TFAP2A BMP4
30 aortic valve disease 1 9.8 TGFBR2 NKX2-5 FBN1 ACTA2
31 heart disease 9.8 TFAP2B TBX5 NKX2-5 EVC CITED2

Graphical network of the top 20 diseases related to Char Syndrome:



Diseases related to Char Syndrome

Symptoms & Phenotypes for Char Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
thick, flared eyebrows

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Nose:
broad nasal tip

Skeletal Hands:
fifth finger clinodactyly
fifth finger distal interphalangeal joint symphalangism

Skeletal Skull:
protuberant occipital bone
sharp elevated ridge at border of occipital bone

Neurologic Central Nervous System:
developmental delay, mild

Head And Neck Ears:
low-set ears
prominent ears

Head And Neck Face:
broad forehead
short philtrum

Head And Neck Mouth:
triangular mouth
prominent 'duckbill' lips

Head And Neck Teeth:
retention of primary teeth (in some patients)
partial or complete absence of secondary teeth (in some patients)

Skeletal Feet:
clinodactyly of fourth and fifth toes (in some patients)
syndactyly of fourth and fifth toes (rare)

Neurologic Behavioral Psychiatric Manifestations:
parasomnia
sleepwalking associated with food-seeking behavior


Clinical features from OMIM:

169100

Human phenotypes related to Char Syndrome:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
4 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
5 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
6 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
7 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
8 thick vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0012471
9 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
10 patent ductus arteriosus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001643
11 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
12 prominent occiput 59 32 occasional (7.5%) Occasional (29-5%) HP:0000269
13 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
14 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
15 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
16 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
17 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
18 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
19 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
20 supernumerary nipple 59 32 occasional (7.5%) Occasional (29-5%) HP:0002558
21 persistence of primary teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0006335
22 short middle phalanx of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004220
23 symphalangism of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004218
24 triangular mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000207
25 mesoaxial hand polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006159
26 no permanent dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0008498
27 mesoaxial foot polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0010112
28 low-set ears 32 HP:0000369
29 thick eyebrow 32 HP:0000574
30 intellectual disability, mild 32 HP:0001256
31 protruding ear 32 HP:0000411
32 broad forehead 32 HP:0000337
33 broad nasal tip 32 HP:0000455
34 hand polydactyly 59 Occasional (29-5%)
35 highly arched eyebrow 32 HP:0002553
36 parasomnia 32 HP:0025234
37 distal/middle symphalangism of 5th finger 32 HP:0009244

MGI Mouse Phenotypes related to Char Syndrome:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 ACTA2 BMP4 CITED2 COL3A1 EP300 FBN1
2 growth/size/body region MP:0005378 10.24 BMP4 CITED2 COL3A1 EP300 EVC FBN1
3 cellular MP:0005384 10.21 BMP4 COL3A1 EP300 EVC FBN1 NKX2-5
4 craniofacial MP:0005382 10.15 BMP4 CITED2 EP300 EVC FBN1 NKX2-5
5 mortality/aging MP:0010768 10.14 BMP4 CITED2 COL3A1 EP300 EVC FBN1
6 embryo MP:0005380 10.13 BMP4 CITED2 EP300 FBN1 NKX2-5 TBX5
7 homeostasis/metabolism MP:0005376 10.13 BMP4 CITED2 COL3A1 EP300 FBN1 NKX2-5
8 digestive/alimentary MP:0005381 10.08 BMP4 CITED2 COL3A1 EP300 NKX2-5 TFAP2A
9 endocrine/exocrine gland MP:0005379 10.05 BMP4 CITED2 EP300 FBN1 NKX2-5 TFAP2A
10 muscle MP:0005369 10.02 ACTA2 BMP4 COL3A1 EP300 FBN1 NKX2-5
11 limbs/digits/tail MP:0005371 9.98 BMP4 CITED2 EVC FBN1 TBX5 TFAP2A
12 integument MP:0010771 9.93 BMP4 COL3A1 FBN1 NKX2-5 TFAP2A TFAP2B
13 nervous system MP:0003631 9.92 BMP4 CITED2 EP300 FBN1 NKX2-5 TFAP2A
14 respiratory system MP:0005388 9.81 BMP4 CITED2 COL3A1 EP300 FBN1 NKX2-5
15 normal MP:0002873 9.8 BMP4 CITED2 EP300 NKX2-5 TBX5 TFAP2A
16 skeleton MP:0005390 9.5 BMP4 CITED2 EVC FBN1 TBX5 TFAP2A
17 vision/eye MP:0005391 9.17 ACTA2 BMP4 CITED2 EP300 TFAP2A TFAP2B

Drugs & Therapeutics for Char Syndrome

Search Clinical Trials , NIH Clinical Center for Char Syndrome

Cochrane evidence based reviews: char syndrome

Genetic Tests for Char Syndrome

Genetic tests related to Char Syndrome:

# Genetic test Affiliating Genes
1 Char Syndrome 29 TFAP2B

Anatomical Context for Char Syndrome

MalaCards organs/tissues related to Char Syndrome:

41
Heart, Bone, Eye

Publications for Char Syndrome

Articles related to Char Syndrome:

(show all 11)
# Title Authors Year
1
A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics. ( 29683802 )
2018
2
Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hypoplasia [corrected] of the 3rd finger. ( 22728731 )
2012
3
Novel TFAP2B mutations that cause Char syndrome provide a genotype- phenotype correlation. ( 11505339 )
2001
4
Char syndrome: an additional family with polythelia, a new finding. ( 11102923 )
2000
5
Further delineation of Char syndrome. ( 10703243 )
2000
6
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. ( 10802654 )
2000
7
Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype. ( 10955477 )
2000
8
Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21. ( 10368122 )
1999
9
Familial patent ductus arteriosus: a further case of CHAR syndrome. ( 9217229 )
1997
10
Char Syndrome ( 20301285 )
1993
11
Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies). ( 1342853 )
1992

Variations for Char Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Char Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 TFAP2B p.Ala275Asp VAR_011318 rs80338914
2 TFAP2B p.Arg300Cys VAR_011319 rs80338917
3 TFAP2B p.Pro73Arg VAR_016977 rs80338910
4 TFAP2B p.Arg236Cys VAR_016978 rs80338912
5 TFAP2B p.Arg236Ser VAR_016979 rs80338912
6 TFAP2B p.Arg285Gln VAR_016980 rs80338915

ClinVar genetic disease variations for Char Syndrome:

6 (show top 50) (show all 200)
# Gene Variation Type Significance SNP ID Assembly Location
1 TFAP2B NM_003221.3(TFAP2B): c.824C> A (p.Ala275Asp) single nucleotide variant Pathogenic rs80338914 GRCh37 Chromosome 6, 50805690: 50805690
2 TFAP2B NM_003221.3(TFAP2B): c.824C> A (p.Ala275Asp) single nucleotide variant Pathogenic rs80338914 GRCh38 Chromosome 6, 50837977: 50837977
3 TFAP2B NM_003221.3(TFAP2B): c.898C> T (p.Arg300Cys) single nucleotide variant Pathogenic rs80338917 GRCh37 Chromosome 6, 50805764: 50805764
4 TFAP2B NM_003221.3(TFAP2B): c.898C> T (p.Arg300Cys) single nucleotide variant Pathogenic rs80338917 GRCh38 Chromosome 6, 50838051: 50838051
5 TFAP2B NM_003221.3(TFAP2B): c.706C> T (p.Arg236Cys) single nucleotide variant Pathogenic rs80338912 GRCh37 Chromosome 6, 50803878: 50803878
6 TFAP2B NM_003221.3(TFAP2B): c.706C> T (p.Arg236Cys) single nucleotide variant Pathogenic rs80338912 GRCh38 Chromosome 6, 50836165: 50836165
7 TFAP2B NM_003221.3(TFAP2B): c.706C> A (p.Arg236Ser) single nucleotide variant Pathogenic rs80338912 GRCh37 Chromosome 6, 50803878: 50803878
8 TFAP2B NM_003221.3(TFAP2B): c.706C> A (p.Arg236Ser) single nucleotide variant Pathogenic rs80338912 GRCh38 Chromosome 6, 50836165: 50836165
9 TFAP2B NM_003221.3(TFAP2B): c.854G> A (p.Arg285Gln) single nucleotide variant Pathogenic rs80338915 GRCh37 Chromosome 6, 50805720: 50805720
10 TFAP2B NM_003221.3(TFAP2B): c.854G> A (p.Arg285Gln) single nucleotide variant Pathogenic rs80338915 GRCh38 Chromosome 6, 50838007: 50838007
11 TFAP2B NM_003221.3(TFAP2B): c.218C> G (p.Pro73Arg) single nucleotide variant Pathogenic rs80338910 GRCh37 Chromosome 6, 50791256: 50791256
12 TFAP2B NM_003221.3(TFAP2B): c.218C> G (p.Pro73Arg) single nucleotide variant Pathogenic rs80338910 GRCh38 Chromosome 6, 50823543: 50823543
13 TFAP2B NM_003221.3(TFAP2B): c.444C> A (p.Asp148Glu) single nucleotide variant Benign rs13216733 GRCh37 Chromosome 6, 50791482: 50791482
14 TFAP2B NM_003221.3(TFAP2B): c.444C> A (p.Asp148Glu) single nucleotide variant Benign rs13216733 GRCh38 Chromosome 6, 50823769: 50823769
15 TFAP2B NM_003221.3(TFAP2B): c.601+5G> A single nucleotide variant Pathogenic rs80338911 GRCh37 Chromosome 6, 50796397: 50796397
16 TFAP2B NM_003221.3(TFAP2B): c.601+5G> A single nucleotide variant Pathogenic rs80338911 GRCh38 Chromosome 6, 50828684: 50828684
17 TFAP2B NM_003221.3(TFAP2B): c.772T> G (p.Ser258Ala) single nucleotide variant Benign rs2817394 GRCh37 Chromosome 6, 50803944: 50803944
18 TFAP2B NM_003221.3(TFAP2B): c.772T> G (p.Ser258Ala) single nucleotide variant Benign rs2817394 GRCh38 Chromosome 6, 50836231: 50836231
19 TFAP2B NM_003221.3(TFAP2B): c.822-1G> C single nucleotide variant Pathogenic rs80338916 GRCh37 Chromosome 6, 50805687: 50805687
20 TFAP2B NM_003221.3(TFAP2B): c.822-1G> C single nucleotide variant Pathogenic rs80338916 GRCh38 Chromosome 6, 50837974: 50837974
21 TFAP2B NM_003221.3(TFAP2B): c.540+28_540+31delCAAA deletion Benign rs370476693 GRCh38 Chromosome 6, 50823893: 50823896
22 TFAP2B NM_003221.3(TFAP2B): c.540+28_540+31delCAAA deletion Benign rs370476693 GRCh37 Chromosome 6, 50791606: 50791609
23 TFAP2B NM_003221.3(TFAP2B): c.*10A> T single nucleotide variant Benign rs2857513 GRCh38 Chromosome 6, 50843402: 50843402
24 TFAP2B NM_003221.3(TFAP2B): c.*10A> T single nucleotide variant Benign rs2857513 GRCh37 Chromosome 6, 50811115: 50811115
25 TFAP2B NM_003221.3(TFAP2B): c.-147C> T single nucleotide variant Likely benign rs190729585 GRCh37 Chromosome 6, 50786458: 50786458
26 TFAP2B NM_003221.3(TFAP2B): c.-147C> T single nucleotide variant Likely benign rs190729585 GRCh38 Chromosome 6, 50818745: 50818745
27 TFAP2B NM_003221.3(TFAP2B): c.-106A> T single nucleotide variant Uncertain significance rs749242065 GRCh37 Chromosome 6, 50786499: 50786499
28 TFAP2B NM_003221.3(TFAP2B): c.-106A> T single nucleotide variant Uncertain significance rs749242065 GRCh38 Chromosome 6, 50818786: 50818786
29 TFAP2B NM_003221.3(TFAP2B): c.522C> G (p.Pro174=) single nucleotide variant Uncertain significance rs886061565 GRCh37 Chromosome 6, 50791560: 50791560
30 TFAP2B NM_003221.3(TFAP2B): c.522C> G (p.Pro174=) single nucleotide variant Uncertain significance rs886061565 GRCh38 Chromosome 6, 50823847: 50823847
31 TFAP2B NM_003221.3(TFAP2B): c.1235C> G (p.Ala412Gly) single nucleotide variant Uncertain significance rs886061566 GRCh38 Chromosome 6, 50843244: 50843244
32 TFAP2B NM_003221.3(TFAP2B): c.1235C> G (p.Ala412Gly) single nucleotide variant Uncertain significance rs886061566 GRCh37 Chromosome 6, 50810957: 50810957
33 TFAP2B NM_003221.3(TFAP2B): c.*178C> T single nucleotide variant Benign rs2857514 GRCh37 Chromosome 6, 50811283: 50811283
34 TFAP2B NM_003221.3(TFAP2B): c.*178C> T single nucleotide variant Benign rs2857514 GRCh38 Chromosome 6, 50843570: 50843570
35 TFAP2B NM_003221.3(TFAP2B): c.*369C> T single nucleotide variant Uncertain significance rs886061571 GRCh38 Chromosome 6, 50843761: 50843761
36 TFAP2B NM_003221.3(TFAP2B): c.*369C> T single nucleotide variant Uncertain significance rs886061571 GRCh37 Chromosome 6, 50811474: 50811474
37 TFAP2B NM_003221.3(TFAP2B): c.*477C> T single nucleotide variant Uncertain significance rs762515397 GRCh37 Chromosome 6, 50811582: 50811582
38 TFAP2B NM_003221.3(TFAP2B): c.*477C> T single nucleotide variant Uncertain significance rs762515397 GRCh38 Chromosome 6, 50843869: 50843869
39 TFAP2B NM_003221.3(TFAP2B): c.*910_*911delAA deletion Uncertain significance rs886061573 GRCh37 Chromosome 6, 50812015: 50812016
40 TFAP2B NM_003221.3(TFAP2B): c.*910_*911delAA deletion Uncertain significance rs886061573 GRCh38 Chromosome 6, 50844302: 50844303
41 TFAP2B NM_003221.3(TFAP2B): c.*911_*915delACACA deletion Uncertain significance rs886061574 GRCh37 Chromosome 6, 50812016: 50812020
42 TFAP2B NM_003221.3(TFAP2B): c.*911_*915delACACA deletion Uncertain significance rs886061574 GRCh38 Chromosome 6, 50844303: 50844307
43 TFAP2B NM_003221.3(TFAP2B): c.*911delA deletion Uncertain significance rs886061572 GRCh37 Chromosome 6, 50812016: 50812016
44 TFAP2B NM_003221.3(TFAP2B): c.*911delA deletion Uncertain significance rs886061572 GRCh38 Chromosome 6, 50844303: 50844303
45 TFAP2B NM_003221.3(TFAP2B): c.*922_*925delCACA deletion Uncertain significance rs886061576 GRCh37 Chromosome 6, 50812027: 50812030
46 TFAP2B NM_003221.3(TFAP2B): c.*922_*925delCACA deletion Uncertain significance rs886061576 GRCh38 Chromosome 6, 50844314: 50844317
47 TFAP2B NM_003221.3(TFAP2B): c.*1199A> G single nucleotide variant Uncertain significance rs886061578 GRCh37 Chromosome 6, 50812304: 50812304
48 TFAP2B NM_003221.3(TFAP2B): c.*1199A> G single nucleotide variant Uncertain significance rs886061578 GRCh38 Chromosome 6, 50844591: 50844591
49 TFAP2B NM_003221.3(TFAP2B): c.*1415G> C single nucleotide variant Likely benign rs149779376 GRCh37 Chromosome 6, 50812520: 50812520
50 TFAP2B NM_003221.3(TFAP2B): c.*1415G> C single nucleotide variant Likely benign rs149779376 GRCh38 Chromosome 6, 50844807: 50844807

Expression for Char Syndrome

Search GEO for disease gene expression data for Char Syndrome.

Pathways for Char Syndrome

Pathways related to Char Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 ACTA2 BMP4 COL3A1 EP300 FBN1
2
Show member pathways
12.61 ACTA2 EP300 NKX2-5 TGFBR2
3
Show member pathways
12.18 BMP4 NKX2-5 TBX5 TGFBR2
4
Show member pathways
11.98 EP300 NKX2-5 TBX5
5 11.81 BMP4 NKX2-5 TBX5
6 11.66 BMP4 TFAP2A TFAP2B
7 11.56 BMP4 EP300 TGFBR2
8 11.54 ACTA2 BMP4 EP300 TGFBR2
9 11.31 BMP4 EP300 TGFBR2
10 11.22 BMP4 NKX2-5 TBX5
11
Show member pathways
11.13 CITED2 EP300
12 11.1 BMP4 NKX2-5 TBX5
13 11.09 CITED2 EP300
14 11.09 ACTA2 EP300 NKX2-5 TGFBR2
15 10.99 ACTA2 BMP4 EP300 TGFBR2
16 10.93 FBN1 TGFBR2
17
Show member pathways
10.89 CITED2 EP300 TFAP2A TFAP2B
18 10.87 BMP4 NKX2-5

GO Terms for Char Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.35 ACTA2 CITED2 EP300 NKX2-5 TBX5
2 protein-DNA complex GO:0032993 8.8 EP300 NKX2-5 TBX5

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

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.99 BMP4 TBX5 TFAP2A TFAP2B TGFBR2
2 response to hypoxia GO:0001666 9.86 CITED2 EP300 TGFBR2
3 skeletal system development GO:0001501 9.85 BMP4 COL3A1 EVC FBN1
4 transforming growth factor beta receptor signaling pathway GO:0007179 9.84 CITED2 COL3A1 TGFBR2
5 cartilage development GO:0051216 9.83 BMP4 EVC TGFBR2
6 response to mechanical stimulus GO:0009612 9.82 CITED2 COL3A1 TGFBR2
7 smoothened signaling pathway GO:0007224 9.81 BMP4 EVC TGFBR2
8 response to estrogen GO:0043627 9.81 CITED2 EP300 TGFBR2
9 positive regulation of gene expression GO:0010628 9.8 ACTA2 BMP4 CITED2 EP300 NKX2-5 TFAP2A
10 heart looping GO:0001947 9.79 CITED2 NKX2-5 TGFBR2
11 vasculogenesis GO:0001570 9.78 CITED2 NKX2-5 TGFBR2
12 kidney development GO:0001822 9.78 BMP4 FBN1 TFAP2A TFAP2B
13 regulation of cell differentiation GO:0045595 9.74 BMP4 TFAP2A TFAP2B
14 ventricular septum morphogenesis GO:0060412 9.73 CITED2 NKX2-5 TGFBR2
15 metanephros development GO:0001656 9.71 BMP4 FBN1
16 bone morphogenesis GO:0060349 9.71 CITED2 TFAP2A
17 embryonic cranial skeleton morphogenesis GO:0048701 9.71 BMP4 TFAP2A TGFBR2
18 lung development GO:0030324 9.71 BMP4 EP300 TBX5 TGFBR2
19 digestive tract development GO:0048565 9.7 COL3A1 TGFBR2
20 positive regulation of bone mineralization GO:0030501 9.7 BMP4 TFAP2A
21 spleen development GO:0048536 9.7 CITED2 NKX2-5
22 embryonic forelimb morphogenesis GO:0035115 9.7 TBX5 TFAP2A
23 ventricular septum development GO:0003281 9.69 CITED2 TBX5
24 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.69 CITED2 EP300
25 vasculature development GO:0001944 9.68 BMP4 CITED2
26 retina layer formation GO:0010842 9.68 TFAP2A TFAP2B
27 lung morphogenesis GO:0060425 9.68 BMP4 TGFBR2
28 atrial septum morphogenesis GO:0060413 9.67 NKX2-5 TBX5
29 atrioventricular valve morphogenesis GO:0003181 9.67 TBX5 TGFBR2
30 outflow tract septum morphogenesis GO:0003148 9.67 BMP4 NKX2-5 TGFBR2
31 forelimb morphogenesis GO:0035136 9.66 TBX5 TFAP2B
32 membranous septum morphogenesis GO:0003149 9.66 BMP4 TGFBR2
33 common-partner SMAD protein phosphorylation GO:0007182 9.63 BMP4 TGFBR2
34 cardiac muscle cell differentiation GO:0055007 9.63 BMP4 NKX2-5 TBX5
35 positive regulation of cardioblast differentiation GO:0051891 9.62 NKX2-5 TBX5
36 trachea formation GO:0060440 9.62 BMP4 TGFBR2
37 negative regulation of cardiac muscle cell proliferation GO:0060044 9.61 CITED2 TBX5 TGFBR2
38 embryonic heart tube left/right pattern formation GO:0060971 9.6 CITED2 NKX2-5
39 bundle of His development GO:0003166 9.58 NKX2-5 TBX5
40 blood vessel development GO:0001568 9.56 BMP4 CITED2 COL3A1 TGFBR2
41 positive regulation of transcription, DNA-templated GO:0045893 9.56 ACTA2 BMP4 CITED2 EP300 NKX2-5 TBX5
42 endocardial cushion development GO:0003197 9.54 BMP4 CITED2 TBX5
43 bronchus development GO:0060433 9.52 BMP4 TGFBR2
44 outflow tract morphogenesis GO:0003151 9.46 BMP4 CITED2 NKX2-5 TGFBR2
45 heart development GO:0007507 9.23 BMP4 CITED2 COL3A1 EP300 FBN1 NKX2-5
46 regulation of transcription, DNA-templated GO:0006355 10.16 CITED2 EP300 NKX2-5 TBX5 TFAP2A TFAP2B
47 negative regulation of transcription by RNA polymerase II GO:0000122 10.06 BMP4 CITED2 EP300 NKX2-5 TFAP2A TFAP2B
48 negative regulation of apoptotic process GO:0043066 10.05 BMP4 CITED2 NKX2-5 TFAP2A TFAP2B
49 positive regulation of transcription by RNA polymerase II GO:0045944 10.05 BMP4 CITED2 EP300 NKX2-5 TBX5 TFAP2A
50 negative regulation of transcription, DNA-templated GO:0045892 10.04 BMP4 CITED2 NKX2-5 TFAP2A TFAP2B

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.72 CITED2 NKX2-5 TBX5 TFAP2A TFAP2B
2 transcription coactivator activity GO:0003713 9.56 CITED2 EP300 TFAP2A TFAP2B
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.54 EP300 NKX2-5 TBX5
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.35 EP300 NKX2-5 TBX5 TFAP2A TFAP2B
5 SMAD binding GO:0046332 9.33 CITED2 COL3A1 TGFBR2
6 chromatin binding GO:0003682 9.02 CITED2 EP300 NKX2-5 TFAP2A TFAP2B

Sources for Char Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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