MCID: CHR101
MIFTS: 50

Char Syndrome

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases, Cardiovascular 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 triangular mouth and everted lower lip vermilion

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

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.

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

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 28)
# Related Disease Score Top Affiliating Genes
1 patent ductus arteriosus 1 32.6 ACTA2 TFAP2A TFAP2B
2 exencephaly 10.4 CITED2 TFAP2A TFAP2B
3 aortic aneurysm, familial thoracic 2 10.4 ACTA2 FBN1
4 familial abdominal aortic aneurysm 10.3 COL3A1 FBN1
5 ehlers-danlos syndrome, hypermobility type 10.3 COL3A1 FBN1
6 lens subluxation 10.2 FBN1 TFAP2A
7 familial thoracic aortic aneurysm and dissection 10.1 FBN1 TGFBR2
8 atrial septal defect 4 10.1 CITED2 NKX2-5 TBX5
9 heart septal defect 10.1 CITED2 NKX2-5 TBX5
10 ventricular septal defect 10.0 CITED2 NKX2-5 TBX5
11 atrioventricular septal defect 10.0 EVC NKX2-5 TBX5
12 dental pulp calcification 10.0 FBN1 TGFBR2
13 polydactyly, postaxial, type a1 10.0 BMP4 EVC
14 tricuspid valve disease 10.0 FBN1 NKX2-5
15 mitral valve insufficiency 10.0 FBN1 TBX5
16 patent foramen ovale 9.9 NKX2-5 TBX5
17 connective tissue disease 9.9 ACTA2 COL3A1 FBN1
18 aortic disease 9.8 ACTA2 FBN1 TGFBR2
19 tetralogy of fallot 9.5 CITED2 FBN1 NKX2-5 TBX5
20 orofacial cleft 9.5 BMP4 TFAP2A TGFBR2
21 cleft palate, isolated 9.5 BMP4 TFAP2A TGFBR2
22 aortic aneurysm, familial thoracic 1 9.5 ACTA2 COL3A1 FBN1 TGFBR2
23 holt-oram syndrome 9.5 EP300 NKX2-5 TBX5
24 loeys-dietz syndrome 9.5 ACTA2 COL3A1 FBN1 TGFBR2
25 marfan syndrome 9.4 ACTA2 COL3A1 FBN1 TGFBR2
26 aneurysm 9.4 ACTA2 COL3A1 FBN1 TGFBR2
27 aortic aneurysm 9.4 ACTA2 COL3A1 FBN1 TGFBR2
28 heart disease 8.8 CITED2 FBN1 NKX2-5 TBX5

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 triangular mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000207
2 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
3 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
4 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
5 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
6 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
7 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
8 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
9 patent ductus arteriosus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001643
10 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
11 thick vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0012471
12 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
13 short middle phalanx of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004220
14 mesoaxial hand polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006159
15 prominent occiput 59 32 occasional (7.5%) Occasional (29-5%) HP:0000269
16 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
17 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
18 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
19 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
20 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
21 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
22 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
23 supernumerary nipple 59 32 occasional (7.5%) Occasional (29-5%) HP:0002558
24 symphalangism of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004218
25 persistence of primary teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0006335
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 hand polydactyly 59 Occasional (29-5%)
29 broad forehead 32 HP:0000337
30 low-set ears 32 HP:0000369
31 protruding ear 32 HP:0000411
32 broad nasal tip 32 HP:0000455
33 thick eyebrow 32 HP:0000574
34 intellectual disability, mild 32 HP:0001256
35 highly arched eyebrow 32 HP:0002553
36 distal/middle symphalangism of 5th finger 32 HP:0009244
37 parasomnia 32 HP:0025234

MGI Mouse Phenotypes related to Char Syndrome:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.3 ACTA2 BMP4 CITED2 COL3A1 EP300 FBN1
2 growth/size/body region MP:0005378 10.22 TGFBR2 BMP4 CITED2 COL3A1 EP300 EVC
3 cellular MP:0005384 10.2 BMP4 COL3A1 EP300 EVC FBN1 NKX2-5
4 craniofacial MP:0005382 10.14 BMP4 CITED2 EP300 EVC FBN1 NKX2-5
5 mortality/aging MP:0010768 10.14 BMP4 CITED2 COL3A1 EP300 EVC FBN1
6 embryo MP:0005380 10.11 CITED2 EP300 FBN1 NKX2-5 TBX5 TFAP2A
7 homeostasis/metabolism MP:0005376 10.11 BMP4 CITED2 COL3A1 EP300 FBN1 NKX2-5
8 digestive/alimentary MP:0005381 10.07 BMP4 CITED2 COL3A1 EP300 NKX2-5 TFAP2A
9 endocrine/exocrine gland MP:0005379 10.04 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 nervous system MP:0003631 9.92 BMP4 CITED2 EP300 FBN1 NKX2-5 TFAP2A
13 respiratory system MP:0005388 9.81 TFAP2B TGFBR2 BMP4 CITED2 COL3A1 EP300
14 normal MP:0002873 9.8 BMP4 CITED2 EP300 NKX2-5 TBX5 TFAP2A
15 skeleton MP:0005390 9.5 BMP4 CITED2 EVC FBN1 TBX5 TFAP2A
16 vision/eye MP:0005391 9.17 CITED2 EP300 TFAP2A TFAP2B TGFBR2 ACTA2

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 196)
# 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.601+5G> A single nucleotide variant Pathogenic rs80338911 GRCh37 Chromosome 6, 50796397: 50796397
14 TFAP2B NM_003221.3(TFAP2B): c.601+5G> A single nucleotide variant Pathogenic rs80338911 GRCh38 Chromosome 6, 50828684: 50828684
15 TFAP2B NM_003221.3(TFAP2B): c.822-1G> C single nucleotide variant Pathogenic rs80338916 GRCh37 Chromosome 6, 50805687: 50805687
16 TFAP2B NM_003221.3(TFAP2B): c.822-1G> C single nucleotide variant Pathogenic rs80338916 GRCh38 Chromosome 6, 50837974: 50837974
17 TFAP2B NM_003221.3(TFAP2B): c.540+28_540+31delCAAA deletion Benign rs370476693 GRCh38 Chromosome 6, 50823893: 50823896
18 TFAP2B NM_003221.3(TFAP2B): c.540+28_540+31delCAAA deletion Benign rs370476693 GRCh37 Chromosome 6, 50791606: 50791609
19 TFAP2B NM_003221.3(TFAP2B): c.*10A> T single nucleotide variant Benign rs2857513 GRCh38 Chromosome 6, 50843402: 50843402
20 TFAP2B NM_003221.3(TFAP2B): c.*10A> T single nucleotide variant Benign rs2857513 GRCh37 Chromosome 6, 50811115: 50811115
21 TFAP2B NM_003221.3(TFAP2B): c.-147C> T single nucleotide variant Likely benign rs190729585 GRCh38 Chromosome 6, 50818745: 50818745
22 TFAP2B NM_003221.3(TFAP2B): c.-147C> T single nucleotide variant Likely benign rs190729585 GRCh37 Chromosome 6, 50786458: 50786458
23 TFAP2B NM_003221.3(TFAP2B): c.-106A> T single nucleotide variant Uncertain significance rs749242065 GRCh37 Chromosome 6, 50786499: 50786499
24 TFAP2B NM_003221.3(TFAP2B): c.-106A> T single nucleotide variant Uncertain significance rs749242065 GRCh38 Chromosome 6, 50818786: 50818786
25 TFAP2B NM_003221.3(TFAP2B): c.522C> G (p.Pro174=) single nucleotide variant Uncertain significance rs886061565 GRCh37 Chromosome 6, 50791560: 50791560
26 TFAP2B NM_003221.3(TFAP2B): c.522C> G (p.Pro174=) single nucleotide variant Uncertain significance rs886061565 GRCh38 Chromosome 6, 50823847: 50823847
27 TFAP2B NM_003221.3(TFAP2B): c.1235C> G (p.Ala412Gly) single nucleotide variant Uncertain significance rs886061566 GRCh38 Chromosome 6, 50843244: 50843244
28 TFAP2B NM_003221.3(TFAP2B): c.1235C> G (p.Ala412Gly) single nucleotide variant Uncertain significance rs886061566 GRCh37 Chromosome 6, 50810957: 50810957
29 TFAP2B NM_003221.3(TFAP2B): c.*178C> T single nucleotide variant Benign rs2857514 GRCh37 Chromosome 6, 50811283: 50811283
30 TFAP2B NM_003221.3(TFAP2B): c.*178C> T single nucleotide variant Benign rs2857514 GRCh38 Chromosome 6, 50843570: 50843570
31 TFAP2B NM_003221.3(TFAP2B): c.*369C> T single nucleotide variant Uncertain significance rs886061571 GRCh38 Chromosome 6, 50843761: 50843761
32 TFAP2B NM_003221.3(TFAP2B): c.*369C> T single nucleotide variant Uncertain significance rs886061571 GRCh37 Chromosome 6, 50811474: 50811474
33 TFAP2B NM_003221.3(TFAP2B): c.*477C> T single nucleotide variant Uncertain significance rs762515397 GRCh37 Chromosome 6, 50811582: 50811582
34 TFAP2B NM_003221.3(TFAP2B): c.*477C> T single nucleotide variant Uncertain significance rs762515397 GRCh38 Chromosome 6, 50843869: 50843869
35 TFAP2B NM_003221.3(TFAP2B): c.*910_*911delAA deletion Uncertain significance rs886061573 GRCh37 Chromosome 6, 50812015: 50812016
36 TFAP2B NM_003221.3(TFAP2B): c.*910_*911delAA deletion Uncertain significance rs886061573 GRCh38 Chromosome 6, 50844302: 50844303
37 TFAP2B NM_003221.3(TFAP2B): c.*911_*915delACACA deletion Uncertain significance rs886061574 GRCh37 Chromosome 6, 50812016: 50812020
38 TFAP2B NM_003221.3(TFAP2B): c.*911_*915delACACA deletion Uncertain significance rs886061574 GRCh38 Chromosome 6, 50844303: 50844307
39 TFAP2B NM_003221.3(TFAP2B): c.*911delA deletion Uncertain significance rs886061572 GRCh37 Chromosome 6, 50812016: 50812016
40 TFAP2B NM_003221.3(TFAP2B): c.*911delA deletion Uncertain significance rs886061572 GRCh38 Chromosome 6, 50844303: 50844303
41 TFAP2B NM_003221.3(TFAP2B): c.*922_*925delCACA deletion Uncertain significance rs886061576 GRCh37 Chromosome 6, 50812027: 50812030
42 TFAP2B NM_003221.3(TFAP2B): c.*922_*925delCACA deletion Uncertain significance rs886061576 GRCh38 Chromosome 6, 50844314: 50844317
43 TFAP2B NM_003221.3(TFAP2B): c.*1199A> G single nucleotide variant Uncertain significance rs886061578 GRCh37 Chromosome 6, 50812304: 50812304
44 TFAP2B NM_003221.3(TFAP2B): c.*1199A> G single nucleotide variant Uncertain significance rs886061578 GRCh38 Chromosome 6, 50844591: 50844591
45 TFAP2B NM_003221.3(TFAP2B): c.*1415G> C single nucleotide variant Likely benign rs149779376 GRCh37 Chromosome 6, 50812520: 50812520
46 TFAP2B NM_003221.3(TFAP2B): c.*1415G> C single nucleotide variant Likely benign rs149779376 GRCh38 Chromosome 6, 50844807: 50844807
47 TFAP2B NM_003221.3(TFAP2B): c.*1678T> C single nucleotide variant Likely benign rs551048493 GRCh37 Chromosome 6, 50812783: 50812783
48 TFAP2B NM_003221.3(TFAP2B): c.*1678T> C single nucleotide variant Likely benign rs551048493 GRCh38 Chromosome 6, 50845070: 50845070
49 TFAP2B NM_003221.3(TFAP2B): c.*1938dupG duplication Likely benign rs886061584 GRCh37 Chromosome 6, 50813043: 50813043
50 TFAP2B NM_003221.3(TFAP2B): c.*1938dupG duplication Likely benign rs886061584 GRCh38 Chromosome 6, 50845330: 50845330

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 ACTA2 BMP4 COL3A1 EP300 FBN1
2
Show member pathways
12.6 ACTA2 EP300 NKX2-5 TGFBR2
3
Show member pathways
12.11 BMP4 NKX2-5 TBX5 TGFBR2
4
Show member pathways
11.95 EP300 NKX2-5 TBX5
5 11.78 BMP4 NKX2-5 TBX5
6 11.62 BMP4 TFAP2A TFAP2B
7 11.5 BMP4 EP300 TGFBR2
8 11.34 ACTA2 BMP4 EP300 TGFBR2
9 11.26 BMP4 EP300 TGFBR2
10 11.16 BMP4 NKX2-5 TBX5
11
Show member pathways
11.1 CITED2 EP300
12 11.07 CITED2 EP300
13 10.99 BMP4 NKX2-5 TBX5
14 10.91 FBN1 TGFBR2
15
Show member pathways
10.89 CITED2 EP300 TFAP2A TFAP2B
16 10.84 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 9.26 ACTA2 CITED2 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 all 50)
# 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 9.86 BMP4 COL3A1 EVC FBN1
4 transforming growth factor beta receptor signaling pathway GO:0007179 9.85 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 vasculogenesis GO:0001570 9.79 CITED2 NKX2-5 TGFBR2
11 heart looping GO:0001947 9.79 CITED2 NKX2-5 TGFBR2
12 regulation of cell differentiation GO:0045595 9.76 BMP4 TFAP2A TFAP2B
13 kidney development GO:0001822 9.76 BMP4 FBN1 TFAP2A TFAP2B
14 ventricular septum morphogenesis GO:0060412 9.72 CITED2 NKX2-5 TGFBR2
15 metanephros development GO:0001656 9.71 BMP4 FBN1
16 spleen development GO:0048536 9.71 CITED2 NKX2-5
17 embryonic cranial skeleton morphogenesis GO:0048701 9.71 BMP4 TFAP2A TGFBR2
18 lung development GO:0030324 9.71 BMP4 EP300 TBX5 TGFBR2
19 positive regulation of bone mineralization GO:0030501 9.7 BMP4 TFAP2A
20 anatomical structure development GO:0048856 9.7 TFAP2A TFAP2B
21 embryonic forelimb morphogenesis GO:0035115 9.7 TBX5 TFAP2A
22 bone morphogenesis GO:0060349 9.69 CITED2 TFAP2A
23 ventricular septum development GO:0003281 9.69 CITED2 TBX5
24 cardiac muscle cell differentiation GO:0055007 9.69 BMP4 NKX2-5 TBX5
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 9.68 NKX2-5 TBX5
29 forelimb morphogenesis GO:0035136 9.67 TBX5 TFAP2B
30 atrioventricular valve morphogenesis GO:0003181 9.67 TBX5 TGFBR2
31 membranous septum morphogenesis GO:0003149 9.66 BMP4 TGFBR2
32 outflow tract septum morphogenesis GO:0003148 9.65 BMP4 NKX2-5 TGFBR2
33 trachea formation GO:0060440 9.63 BMP4 TGFBR2
34 common-partner SMAD protein phosphorylation GO:0007182 9.62 BMP4 TGFBR2
35 positive regulation of cardioblast differentiation GO:0051891 9.61 NKX2-5 TBX5
36 negative regulation of cardiac muscle cell proliferation GO:0060044 9.61 CITED2 TBX5 TGFBR2
37 embryonic heart tube left/right pattern formation GO:0060971 9.6 CITED2 NKX2-5
38 bundle of His development GO:0003166 9.57 NKX2-5 TBX5
39 blood vessel development GO:0001568 9.56 BMP4 CITED2 COL3A1 TGFBR2
40 endocardial cushion development GO:0003197 9.54 BMP4 CITED2 TBX5
41 bronchus development GO:0060433 9.52 BMP4 TGFBR2
42 positive regulation of transcription, DNA-templated GO:0045893 9.5 BMP4 CITED2 EP300 NKX2-5 TBX5 TFAP2A
43 outflow tract morphogenesis GO:0003151 9.46 BMP4 CITED2 NKX2-5 TGFBR2
44 heart development GO:0007507 9.23 BMP4 CITED2 COL3A1 EP300 FBN1 NKX2-5
45 transcription by RNA polymerase II GO:0006366 10.06 CITED2 EP300 NKX2-5 TFAP2A TFAP2B
46 negative regulation of apoptotic process GO:0043066 10.05 BMP4 CITED2 NKX2-5 TFAP2A TFAP2B
47 negative regulation of transcription by RNA polymerase II GO:0000122 10.05 BMP4 CITED2 EP300 NKX2-5 TFAP2A TFAP2B
48 negative regulation of transcription, DNA-templated GO:0045892 10.04 BMP4 CITED2 NKX2-5 TFAP2A TFAP2B
49 positive regulation of transcription by RNA polymerase II GO:0045944 10.04 BMP4 CITED2 EP300 NKX2-5 TBX5 TFAP2A
50 positive regulation of cell proliferation GO:0008284 10 BMP4 NKX2-5 TFAP2B TGFBR2

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 EP300 NKX2-5 TBX5 TFAP2A
2 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.5 EP300 NKX2-5 TBX5
3 transcription coactivator activity GO:0003713 9.46 CITED2 EP300 TFAP2A TFAP2B
4 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 9.37 TFAP2A TFAP2B
5 SMAD binding GO:0046332 9.13 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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