CHAR
MCID: CHR101
MIFTS: 50

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 58 12 77 25 54 26 60 76 38 30 13 56 6 45 15 41 74
Patent Ductus Arteriosus with Facial Dysmorphism and Abnormal Fifth Digits 58 54 26 60
Char 58 54 76

Characteristics:

Orphanet epidemiological data:

60
char syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
char syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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:

Disease Ontology 12 DOID:0060563
OMIM 58 169100
KEGG 38 H00555
MESH via Orphanet 46 C538076
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1868570
Orphanet 60 ORPHA46627
MedGen 43 C1868570
UMLS 74 C1868570

Summaries for Char Syndrome

NIH Rare Diseases : 54 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 Human Embryonic Stem Cell Pluripotency and BMAL1-CLOCK,NPAS2 activates circadian gene expression. 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 : 26 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 : 76 Char syndrome: An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

Wikipedia : 77 Char syndrome is an autosomal dominant congenital disease caused by mutations in TFAP2B gene which... more...

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 29)
# Related Disease Score Top Affiliating Genes
1 patent ductus arteriosus 1 32.4 NKX2-5 TFAP2A TFAP2B
2 exencephaly 10.2 CITED2 TFAP2A TFAP2B
3 familial abdominal aortic aneurysm 10.1 COL3A1 FBN1
4 lens subluxation 10.1 FBN1 TFAP2A
5 polydactyly, postaxial, type a1 10.0 BMP4 EVC
6 atrioventricular septal defect 10.0 EVC NKX2-5 TBX5
7 heart septal defect 10.0 CITED2 NKX2-5 TBX5
8 dental pulp calcification 10.0 FBN1 TGFBR2
9 diabetes mellitus 10.0
10 diabetes insipidus 10.0
11 patent foramen ovale 10.0 CITED2 NKX2-5 TBX5
12 tricuspid valve disease 10.0 FBN1 NKX2-5
13 eisenmenger syndrome 9.9 CITED2 NKX2-5 TGFBR2
14 mitral valve insufficiency 9.9 FBN1 TBX5
15 tricuspid valve insufficiency 9.9 CPB1 FBN1
16 familial thoracic aortic aneurysm and dissection 9.9 COL3A1 FBN1 TGFBR2
17 aortic aneurysm 9.9 COL3A1 FBN1 TGFBR2
18 loeys-dietz syndrome 3 9.9 COL3A1 FBN1 TGFBR2
19 loeys-dietz syndrome 9.9 COL3A1 FBN1 TGFBR2
20 ventricular septal defect 9.9 CITED2 EVC NKX2-5 TBX5
21 aortic aneurysm, familial thoracic 1 9.9 COL3A1 FBN1 TGFBR2
22 loeys-dietz syndrome 1 9.9 COL3A1 FBN1 TGFBR2
23 marfan syndrome 9.8 COL3A1 FBN1 TGFBR2
24 aortic valve disease 1 9.8 FBN1 NKX2-5 TGFBR2
25 tetralogy of fallot 9.7 CITED2 FBN1 NKX2-5 TBX5
26 holt-oram syndrome 9.7 EP300 NKX2-5 TBX5
27 cleft palate, isolated 9.7 BMP4 TFAP2A TGFBR2
28 heart disease 9.7 CITED2 EVC NKX2-5 TBX5 TFAP2B
29 bullous keratopathy 9.7 BMP4 FBN1

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



Diseases related to Char Syndrome

Symptoms & Phenotypes for Char Syndrome

Human phenotypes related to Char Syndrome:

60 33 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
3 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
4 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
5 thick vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0012471
6 patent ductus arteriosus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001643
7 everted lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000232
8 short philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000322
9 depressed nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000457
10 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
11 triangular mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000207
12 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
13 short middle phalanx of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004220
14 mesoaxial hand polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0006159
15 sleep disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002360
16 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
17 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
18 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
19 prominent occiput 60 33 occasional (7.5%) Occasional (29-5%) HP:0000269
20 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
21 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
22 toe syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001770
23 supernumerary nipple 60 33 occasional (7.5%) Occasional (29-5%) HP:0002558
24 persistence of primary teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0006335
25 symphalangism of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004218
26 no permanent dentition 60 33 occasional (7.5%) Occasional (29-5%) HP:0008498
27 mesoaxial foot polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0010112
28 low-set ears 33 HP:0000369
29 thick eyebrow 33 HP:0000574
30 intellectual disability, mild 33 HP:0001256
31 protruding ear 33 HP:0000411
32 broad forehead 33 HP:0000337
33 broad nasal tip 33 HP:0000455
34 hand polydactyly 60 Occasional (29-5%)
35 highly arched eyebrow 33 HP:0002553
36 parasomnia 33 HP:0025234
37 distal/middle symphalangism of 5th finger 33 HP:0009244

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Char Syndrome:

47 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.27 BMP4 CITED2 COL3A1 EP300 FBN1 NKX2-5
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 limbs/digits/tail MP:0005371 9.98 BMP4 CITED2 EVC FBN1 TBX5 TFAP2A
11 muscle MP:0005369 9.97 BMP4 COL3A1 EP300 FBN1 NKX2-5 TBX5
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 9.1 BMP4 CITED2 EP300 TFAP2A TFAP2B TGFBR2

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 30 TFAP2B

Anatomical Context for Char Syndrome

MalaCards organs/tissues related to Char Syndrome:

42
Heart, Bone, Eye

Publications for Char Syndrome

Articles related to Char Syndrome:

(show all 16)
# Title Authors Year
1
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. ( 31012281 )
2019
2
A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics. ( 29683802 )
2018
3
Char Syndrome a novel mutation and new insights: A clinical report. ( 30579973 )
2018
4
Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hypoplasia [corrected] of the 3rd finger. ( 22728731 )
2012
5
Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B. ( 21643846 )
2011
6
Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. ( 15684060 )
2005
7
Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. ( 11505339 )
2001
8
Further delineation of Char syndrome. ( 10703243 )
2000
9
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. ( 10802654 )
2000
10
Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype. ( 10955477 )
2000
11
Char syndrome: an additional family with polythelia, a new finding. ( 11102923 )
2000
12
Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21. ( 10368122 )
1999
13
Familial patent ductus arteriosus: a further case of CHAR syndrome. ( 9217229 )
1997
14
Familial occurrence of patent ductus arteriosus. ( 7645594 )
1995
15
A large family with patent ductus arteriosus and unusual face. ( 8326495 )
1993
16
Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies). ( 1342853 )
1992

Variations for Char Syndrome

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

76
# 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 204)
# 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.772T> G (p.Ser258Ala) single nucleotide variant Benign rs2817394 GRCh37 Chromosome 6, 50803944: 50803944
14 TFAP2B NM_003221.3(TFAP2B): c.772T> G (p.Ser258Ala) single nucleotide variant Benign rs2817394 GRCh38 Chromosome 6, 50836231: 50836231
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.444C> A (p.Asp148Glu) single nucleotide variant Benign rs13216733 GRCh37 Chromosome 6, 50791482: 50791482
18 TFAP2B NM_003221.3(TFAP2B): c.444C> A (p.Asp148Glu) single nucleotide variant Benign rs13216733 GRCh38 Chromosome 6, 50823769: 50823769
19 TFAP2B NM_003221.3(TFAP2B): c.601+5G> A single nucleotide variant Pathogenic rs80338911 GRCh37 Chromosome 6, 50796397: 50796397
20 TFAP2B NM_003221.3(TFAP2B): c.601+5G> A single nucleotide variant Pathogenic rs80338911 GRCh38 Chromosome 6, 50828684: 50828684
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 GRCh38 Chromosome 6, 50818786: 50818786
24 TFAP2B NM_003221.3(TFAP2B): c.-106A> T single nucleotide variant Uncertain significance rs749242065 GRCh37 Chromosome 6, 50786499: 50786499
25 TFAP2B NM_003221.3(TFAP2B): c.522C> G (p.Pro174=) single nucleotide variant Uncertain significance rs886061565 GRCh38 Chromosome 6, 50823847: 50823847
26 TFAP2B NM_003221.3(TFAP2B): c.522C> G (p.Pro174=) single nucleotide variant Uncertain significance rs886061565 GRCh37 Chromosome 6, 50791560: 50791560
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 rs35732696 GRCh37 Chromosome 6, 50812015: 50812016
36 TFAP2B NM_003221.3(TFAP2B): c.*910_*911delAA deletion Uncertain significance rs35732696 GRCh38 Chromosome 6, 50844302: 50844303
37 TFAP2B NM_003221.3(TFAP2B): c.*911_*915delACACA deletion Uncertain significance rs770818655 GRCh37 Chromosome 6, 50812016: 50812020
38 TFAP2B NM_003221.3(TFAP2B): c.*911_*915delACACA deletion Uncertain significance rs770818655 GRCh38 Chromosome 6, 50844303: 50844307
39 TFAP2B NM_003221.3(TFAP2B): c.*911delA deletion Uncertain significance rs35732696 GRCh37 Chromosome 6, 50812016: 50812016
40 TFAP2B NM_003221.3(TFAP2B): c.*911delA deletion Uncertain significance rs35732696 GRCh38 Chromosome 6, 50844303: 50844303
41 TFAP2B NM_003221.3(TFAP2B): c.*922_*925delCACA deletion Uncertain significance rs35649205 GRCh37 Chromosome 6, 50812027: 50812030
42 TFAP2B NM_003221.3(TFAP2B): c.*922_*925delCACA deletion Uncertain significance rs35649205 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 GRCh38 Chromosome 6, 50844807: 50844807
46 TFAP2B NM_003221.3(TFAP2B): c.*1415G> C single nucleotide variant Likely benign rs149779376 GRCh37 Chromosome 6, 50812520: 50812520
47 TFAP2B NM_003221.3(TFAP2B): c.*1678T> C single nucleotide variant Likely benign rs551048493 GRCh38 Chromosome 6, 50845070: 50845070
48 TFAP2B NM_003221.3(TFAP2B): c.*1678T> C single nucleotide variant Likely benign rs551048493 GRCh37 Chromosome 6, 50812783: 50812783
49 TFAP2B NM_003221.3(TFAP2B): c.*1938dupG duplication Likely benign rs568007912 GRCh38 Chromosome 6, 50845330: 50845330
50 TFAP2B NM_003221.3(TFAP2B): c.*1938dupG duplication Likely benign rs568007912 GRCh37 Chromosome 6, 50813043: 50813043

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.07 BMP4 NKX2-5 TBX5 TGFBR2
2
Show member pathways
11.95 EP300 NKX2-5 TBX5
3 11.75 BMP4 EP300 TGFBR2
4 11.73 BMP4 NKX2-5 TBX5
5 11.59 BMP4 TFAP2A TFAP2B
6 11.52 BMP4 EP300 TGFBR2
7 11.39 BMP4 EP300 TGFBR2
8 11.2 BMP4 EP300 TGFBR2
9
Show member pathways
11.1 CITED2 EP300
10 11.07 CITED2 EP300
11 11.06 BMP4 NKX2-5 TBX5
12 10.91 FBN1 TGFBR2
13
Show member pathways
10.89 CITED2 EP300 TFAP2A TFAP2B
14 10.8 BMP4 NKX2-5
15 10.79 BMP4 NKX2-5 TBX5

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-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 52)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.99 BMP4 TBX5 TFAP2A TFAP2B TGFBR2
2 positive regulation of gene expression GO:0010628 9.98 BMP4 CITED2 EP300 NKX2-5 TFAP2A
3 response to hypoxia GO:0001666 9.86 CITED2 EP300 TGFBR2
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 skeletal system development GO:0001501 9.83 BMP4 COL3A1 EVC FBN1
7 response to mechanical stimulus GO:0009612 9.82 CITED2 COL3A1 TGFBR2
8 smoothened signaling pathway GO:0007224 9.82 BMP4 EVC TGFBR2
9 response to estrogen GO:0043627 9.81 CITED2 EP300 TGFBR2
10 heart looping GO:0001947 9.79 CITED2 NKX2-5 TGFBR2
11 vasculogenesis GO:0001570 9.78 CITED2 NKX2-5 TGFBR2
12 regulation of cell differentiation GO:0045595 9.74 BMP4 TFAP2A TFAP2B
13 ventricular septum morphogenesis GO:0060412 9.73 CITED2 NKX2-5 TGFBR2
14 kidney development GO:0001822 9.73 BMP4 FBN1 TFAP2A TFAP2B
15 metanephros development GO:0001656 9.71 BMP4 FBN1
16 bone morphogenesis GO:0060349 9.71 CITED2 TFAP2A
17 digestive tract development GO:0048565 9.71 COL3A1 TGFBR2
18 embryonic cranial skeleton morphogenesis GO:0048701 9.71 BMP4 TFAP2A TGFBR2
19 positive regulation of bone mineralization GO:0030501 9.7 BMP4 TFAP2A
20 spleen development GO:0048536 9.7 CITED2 NKX2-5
21 embryonic forelimb morphogenesis GO:0035115 9.7 TBX5 TFAP2A
22 ventricular septum development GO:0003281 9.69 CITED2 TBX5
23 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.69 CITED2 EP300
24 vasculature development GO:0001944 9.69 BMP4 CITED2
25 retina layer formation GO:0010842 9.68 TFAP2A TFAP2B
26 lung morphogenesis GO:0060425 9.68 BMP4 TGFBR2
27 atrial septum morphogenesis GO:0060413 9.67 NKX2-5 TBX5
28 atrioventricular valve morphogenesis GO:0003181 9.67 TBX5 TGFBR2
29 outflow tract septum morphogenesis GO:0003148 9.67 BMP4 NKX2-5 TGFBR2
30 lung development GO:0030324 9.67 BMP4 EP300 TBX5 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 embryonic heart tube left/right pattern formation GO:0060971 9.6 CITED2 NKX2-5
38 bundle of His development GO:0003166 9.58 NKX2-5 TBX5
39 negative regulation of cardiac muscle cell proliferation GO:0060044 9.58 CITED2 TBX5 TGFBR2
40 blood vessel development GO:0001568 9.56 BMP4 CITED2 COL3A1 TGFBR2
41 bronchus development GO:0060433 9.51 BMP4 TGFBR2
42 endocardial cushion development GO:0003197 9.5 BMP4 CITED2 TBX5
43 positive regulation of transcription, DNA-templated GO:0045893 9.5 BMP4 CITED2 EP300 NKX2-5 TBX5 TFAP2A
44 outflow tract morphogenesis GO:0003151 9.46 BMP4 CITED2 NKX2-5 TGFBR2
45 transcription by RNA polymerase II GO:0006366 9.41 TFAP2B
46 heart development GO:0007507 9.23 BMP4 CITED2 COL3A1 EP300 FBN1 NKX2-5
47 regulation of transcription, DNA-templated GO:0006355 10.15 CITED2 EP300 NKX2-5 TBX5 TFAP2A TFAP2B
48 negative regulation of apoptotic process GO:0043066 10.05 BMP4 CITED2 NKX2-5 TFAP2A TFAP2B
49 negative regulation of transcription, DNA-templated GO:0045892 10.04 BMP4 CITED2 NKX2-5 TFAP2A TFAP2B
50 negative regulation of transcription by RNA polymerase II GO:0000122 10.02 BMP4 CITED2 EP300 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 sequence-specific DNA binding GO:0043565 9.71 NKX2-5 TBX5 TFAP2A TFAP2B
3 transcription coactivator activity GO:0003713 9.56 CITED2 EP300 TFAP2A TFAP2B
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.54 EP300 NKX2-5 TBX5
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.35 EP300 NKX2-5 TBX5 TFAP2A TFAP2B
6 SMAD binding GO:0046332 9.33 CITED2 COL3A1 TGFBR2
7 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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