MCID: CHR101
MIFTS: 51

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 53 12 23 49 24 55 71 36 28 13 51 41 14 69
Patent Ductus Arteriosus with Facial Dysmorphism and Abnormal Fifth Digits 53 49 24 55
Char 53 49 71

Characteristics:

Orphanet epidemiological data:

55
char syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
char syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
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 53 169100
Disease Ontology 12 DOID:0060563
Orphanet 55 ORPHA46627
UMLS via Orphanet 70 C1868570
MESH via Orphanet 42 C538076
ICD10 via Orphanet 33 Q87.8
MedGen 39 C1868570
KEGG 36 H00555
UMLS 69 C1868570

Summaries for Char Syndrome

NIH Rare Diseases : 49 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. Last updated: 9/15/2011

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, and has symptoms including malar flattening, hypertelorism and ptosis. 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 Human Embryonic Stem Cell Pluripotency. Affiliated tissues include heart, bone and eye, and related phenotypes are cardiovascular system and growth/size/body region

UniProtKB/Swiss-Prot : 71 Char syndrome: An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

Genetics Home Reference : 24 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

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:

53
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:

55 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 55 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000508
4 sleep disturbance 55 31 occasional (7.5%) Occasional (29-5%) HP:0002360
5 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
6 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
7 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
8 thick vermilion border 55 31 hallmark (90%) Very frequent (99-80%) HP:0012471
9 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
10 patent ductus arteriosus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001643
11 everted lower lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000232
12 prominent occiput 55 31 occasional (7.5%) Occasional (29-5%) HP:0000269
13 myopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000545
14 short philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000322
15 depressed nasal ridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000457
16 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
17 downslanted palpebral fissures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000494
18 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
19 toe syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001770
20 supernumerary nipple 55 31 occasional (7.5%) Occasional (29-5%) HP:0002558
21 persistence of primary teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0006335
22 short middle phalanx of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004220
23 symphalangism of the 5th finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0004218
24 triangular mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000207
25 mesoaxial hand polydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0006159
26 no permanent dentition 55 31 occasional (7.5%) Occasional (29-5%) HP:0008498
27 mesoaxial foot polydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0010112
28 low-set ears 31 HP:0000369
29 thick eyebrow 31 HP:0000574
30 intellectual disability, mild 31 HP:0001256
31 protruding ear 31 HP:0000411
32 broad forehead 31 HP:0000337
33 broad nasal tip 31 HP:0000455
34 hand polydactyly 55 Occasional (29-5%)
35 highly arched eyebrow 31 HP:0002553
36 parasomnia 31 HP:0025234
37 distal/middle symphalangism of 5th finger 31 HP:0009244

MGI Mouse Phenotypes related to Char Syndrome:

43 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.29 ACTA2 BMP4 CITED2 COL3A1 EP300 FBN1
2 growth/size/body region MP:0005378 10.2 BMP4 CITED2 COL3A1 EP300 EVC FBN1
3 cellular MP:0005384 10.19 BMP4 COL3A1 EP300 EVC FBN1 NKX2-5
4 craniofacial MP:0005382 10.13 BMP4 CITED2 EP300 EVC FBN1 NKX2-5
5 mortality/aging MP:0010768 10.11 BMP4 CITED2 COL3A1 EP300 EVC FBN1
6 embryo MP:0005380 10.1 BMP4 CITED2 EP300 FBN1 NKX2-5 TBX5
7 homeostasis/metabolism MP:0005376 10.09 BMP4 CITED2 COL3A1 EP300 FBN1 NKX2-5
8 digestive/alimentary MP:0005381 10.05 EP300 NKX2-5 TFAP2A TGFBR2 BMP4 CITED2
9 endocrine/exocrine gland MP:0005379 10.02 CITED2 EP300 FBN1 NKX2-5 TFAP2A TGFBR2
10 muscle MP:0005369 9.97 ACTA2 BMP4 COL3A1 EP300 FBN1 NKX2-5
11 limbs/digits/tail MP:0005371 9.95 CITED2 EVC FBN1 TBX5 TFAP2A TFAP2B
12 respiratory system MP:0005388 9.81 BMP4 CITED2 COL3A1 EP300 FBN1 NKX2-5
13 normal MP:0002873 9.8 BMP4 CITED2 EP300 NKX2-5 TBX5 TFAP2A
14 skeleton MP:0005390 9.5 BMP4 CITED2 EVC FBN1 TBX5 TFAP2A
15 vision/eye MP:0005391 9.1 ACTA2 BMP4 CITED2 EP300 TFAP2A 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 28 TFAP2B

Anatomical Context for Char Syndrome

MalaCards organs/tissues related to Char Syndrome:

38
Heart, Bone, Eye

Publications for Char Syndrome

Articles related to Char Syndrome:

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

Variations for Char Syndrome

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

71
# 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
# 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.898C> T (p.Arg300Cys) single nucleotide variant Pathogenic rs80338917 GRCh37 Chromosome 6, 50805764: 50805764
3 TFAP2B NM_003221.3(TFAP2B): c.706C> T (p.Arg236Cys) single nucleotide variant Pathogenic rs80338912 GRCh37 Chromosome 6, 50803878: 50803878
4 TFAP2B NM_003221.3(TFAP2B): c.706C> A (p.Arg236Ser) single nucleotide variant Pathogenic rs80338912 GRCh37 Chromosome 6, 50803878: 50803878
5 TFAP2B NM_003221.3(TFAP2B): c.854G> A (p.Arg285Gln) single nucleotide variant Pathogenic rs80338915 GRCh37 Chromosome 6, 50805720: 50805720
6 TFAP2B NM_003221.3(TFAP2B): c.218C> G (p.Pro73Arg) single nucleotide variant Pathogenic rs80338910 GRCh37 Chromosome 6, 50791256: 50791256
7 TFAP2B NM_003221.3(TFAP2B): c.601+5G> A single nucleotide variant Pathogenic rs80338911 GRCh37 Chromosome 6, 50796397: 50796397
8 TFAP2B NM_003221.3(TFAP2B): c.822-1G> C single nucleotide variant Pathogenic rs80338916 GRCh37 Chromosome 6, 50805687: 50805687

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
12.78 ACTA2 BMP4 COL3A1 EP300 FBN1
2
Show member pathways
12.2 BMP4 NKX2-5 TBX5 TGFBR2
3
Show member pathways
11.98 EP300 NKX2-5 TBX5
4 11.81 BMP4 NKX2-5 TBX5
5 11.66 BMP4 TFAP2A TFAP2B
6 11.54 ACTA2 BMP4 EP300 TGFBR2
7 11.53 BMP4 EP300 TGFBR2
8 11.31 BMP4 EP300 TGFBR2
9 11.24 ACTA2 BMP4 NKX2-5 TBX5
10 11.22 BMP4 NKX2-5 TBX5
11 11.1 BMP4 NKX2-5 TBX5
12 11.09 CITED2 EP300
13 11.09 ACTA2 EP300 NKX2-5 TGFBR2
14 10.93 FBN1 TGFBR2
15
Show member pathways
10.89 CITED2 EP300 TFAP2A TFAP2B
16 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 macromolecular complex GO:0032991 8.62 NKX2-5 TBX5

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

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.86 CITED2 EP300 TGFBR2
2 skeletal system development GO:0001501 9.86 BMP4 COL3A1 EVC FBN1
3 transforming growth factor beta receptor signaling pathway GO:0007179 9.85 CITED2 COL3A1 TGFBR2
4 cartilage development GO:0051216 9.83 BMP4 EVC TGFBR2
5 response to mechanical stimulus GO:0009612 9.82 CITED2 COL3A1 TGFBR2
6 smoothened signaling pathway GO:0007224 9.82 BMP4 EVC TGFBR2
7 response to estrogen GO:0043627 9.81 CITED2 EP300 TGFBR2
8 positive regulation of gene expression GO:0010628 9.8 ACTA2 BMP4 CITED2 EP300 NKX2-5 TFAP2A
9 heart looping GO:0001947 9.79 CITED2 NKX2-5 TGFBR2
10 vasculogenesis GO:0001570 9.79 CITED2 NKX2-5 TGFBR2
11 kidney development GO:0001822 9.76 BMP4 FBN1 TFAP2A TFAP2B
12 regulation of cell differentiation GO:0045595 9.75 BMP4 TFAP2A TFAP2B
13 lung development GO:0030324 9.73 BMP4 EP300 TBX5 TGFBR2
14 embryonic cranial skeleton morphogenesis GO:0048701 9.72 BMP4 TFAP2A TGFBR2
15 positive regulation of bone mineralization GO:0030501 9.71 BMP4 TFAP2A
16 ventricular septum morphogenesis GO:0060412 9.71 CITED2 NKX2-5 TGFBR2
17 digestive tract development GO:0048565 9.7 COL3A1 TGFBR2
18 metanephros development GO:0001656 9.7 BMP4 FBN1
19 embryonic forelimb morphogenesis GO:0035115 9.7 TBX5 TFAP2A
20 cardiac muscle cell differentiation GO:0055007 9.7 BMP4 NKX2-5 TBX5
21 ventricular septum development GO:0003281 9.69 CITED2 TBX5
22 bone morphogenesis GO:0060349 9.69 CITED2 TFAP2A
23 vasculature development GO:0001944 9.68 BMP4 CITED2
24 retina layer formation GO:0010842 9.68 TFAP2A TFAP2B
25 lung morphogenesis GO:0060425 9.68 BMP4 TGFBR2
26 atrial septum morphogenesis GO:0060413 9.68 NKX2-5 TBX5
27 forelimb morphogenesis GO:0035136 9.67 TBX5 TFAP2B
28 atrioventricular valve morphogenesis GO:0003181 9.67 TBX5 TGFBR2
29 membranous septum morphogenesis GO:0003149 9.66 BMP4 TGFBR2
30 outflow tract septum morphogenesis GO:0003148 9.65 BMP4 NKX2-5 TGFBR2
31 common-partner SMAD protein phosphorylation GO:0007182 9.63 BMP4 TGFBR2
32 trachea formation GO:0060440 9.62 BMP4 TGFBR2
33 positive regulation of cardioblast differentiation GO:0051891 9.61 NKX2-5 TBX5
34 embryonic heart tube left/right pattern formation GO:0060971 9.59 CITED2 NKX2-5
35 negative regulation of cardiac muscle cell proliferation GO:0060044 9.58 CITED2 TBX5 TGFBR2
36 bundle of His development GO:0003166 9.57 NKX2-5 TBX5
37 outflow tract morphogenesis GO:0003151 9.56 BMP4 CITED2 NKX2-5 TGFBR2
38 endocardial cushion development GO:0003197 9.54 BMP4 CITED2 TBX5
39 bronchus development GO:0060433 9.51 BMP4 TGFBR2
40 positive regulation of transcription, DNA-templated GO:0045893 9.5 BMP4 CITED2 EP300 NKX2-5 TBX5 TFAP2A
41 blood vessel development GO:0001568 9.46 BMP4 CITED2 COL3A1 TGFBR2
42 heart development GO:0007507 9.23 BMP4 CITED2 COL3A1 EP300 FBN1 NKX2-5
43 transcription by RNA polymerase II GO:0006366 10.06 CITED2 EP300 NKX2-5 TFAP2A TFAP2B
44 negative regulation of transcription by RNA polymerase II GO:0000122 10.06 BMP4 CITED2 EP300 NKX2-5 TFAP2A TFAP2B
45 negative regulation of transcription, DNA-templated GO:0045892 10.05 BMP4 CITED2 NKX2-5 TFAP2A TFAP2B
46 positive regulation of transcription by RNA polymerase II GO:0045944 10.04 BMP4 CITED2 EP300 NKX2-5 TBX5 TFAP2A
47 negative regulation of apoptotic process GO:0043066 10.03 BMP4 CITED2 NKX2-5 TFAP2A TFAP2B
48 positive regulation of cell proliferation GO:0008284 10 BMP4 NKX2-5 TFAP2B TGFBR2
49 negative regulation of cell proliferation GO:0008285 10 BMP4 TBX5 TFAP2A TFAP2B TGFBR2

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 9.83 CITED2 NKX2-5 TBX5 TFAP2A TFAP2B
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.62 EP300 NKX2-5 TBX5 TFAP2A
3 transcription coactivator activity GO:0003713 9.56 CITED2 EP300 TFAP2A TFAP2B
4 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.54 EP300 NKX2-5 TBX5
5 RNA polymerase II transcription corepressor activity GO:0001106 9.4 CITED2 TFAP2B
6 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 9.33 EP300 TFAP2A TFAP2B
7 SMAD binding GO:0046332 9.13 CITED2 COL3A1 TGFBR2
8 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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