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 54 12 23 50 24 25 56 71 29 13 52 42 14 69
Patent Ductus Arteriosus with Facial Dysmorphism and Abnormal Fifth Digits 50 25 56
Char 50 71

Characteristics:

Orphanet epidemiological data:

56
char syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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:

23
Penetrance The penetrance of char syndrome has not been determined formally. one asymptomatic individual with a tfap2b disease-causing mutation has been described [mani et al 2005]. ...

Classifications:



Summaries for Char Syndrome

NIH Rare Diseases : 50 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 exfoliative dermatitis and familial or sporadic hemiplegic migraine, and has symptoms including strabismus, myopia 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. The drug Hypnotics and Sedatives has been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, and related phenotypes are cardiovascular system and cellular

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 : 71 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

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:

54

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

Cardiovascular- Vascular:
patent ductus arteriosus

Head And Neck- Nose:
broad nasal tip

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

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

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

Head And Neck- Face:
short philtrum
broad forehead

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:

56 32 (show all 36)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
2 myopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000545
3 ptosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000508
4 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
5 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
6 patent ductus arteriosus 56 32 hallmark (90%) Very frequent (99-80%) HP:0001643
7 global developmental delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001263
8 short philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000322
9 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
10 toe syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001770
11 downslanted palpebral fissures 56 32 hallmark (90%) Very frequent (99-80%) HP:0000494
12 prominent occiput 56 32 occasional (7.5%) Occasional (29-5%) HP:0000269
13 malar flattening 56 32 hallmark (90%) Very frequent (99-80%) HP:0000272
14 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
15 short middle phalanx of the 5th finger 56 32 frequent (33%) Frequent (79-30%) HP:0004220
16 triangular mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000207
17 depressed nasal ridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000457
18 sleep disturbance 56 32 occasional (7.5%) Occasional (29-5%) HP:0002360
19 everted lower lip vermilion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000232
20 supernumerary nipple 56 32 occasional (7.5%) Occasional (29-5%) HP:0002558
21 no permanent dentition 56 32 occasional (7.5%) Occasional (29-5%) HP:0008498
22 thick vermilion border 56 32 hallmark (90%) Very frequent (99-80%) HP:0012471
23 clinodactyly of the 5th finger 56 32 frequent (33%) Frequent (79-30%) HP:0004209
24 persistence of primary teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0006335
25 symphalangism of the 5th finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0004218
26 mesoaxial hand polydactyly 56 32 frequent (33%) Frequent (79-30%) HP:0006159
27 mesoaxial foot polydactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0010112
28 low-set ears 32 HP:0000369
29 broad nasal tip 32 HP:0000455
30 broad forehead 32 HP:0000337
31 intellectual disability, mild 32 HP:0001256
32 thick eyebrow 32 HP:0000574
33 protruding ear 32 HP:0000411
34 hand polydactyly 56 Occasional (29-5%)
35 highly arched eyebrow 32 HP:0002553
36 distal/middle symphalangism of 5th finger 32 HP:0009244

MGI Mouse Phenotypes related to Char Syndrome:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.26 ACTA2 BMP4 CITED2 COL3A1 EP300 FBN1
2 cellular MP:0005384 10.21 COL3A1 EP300 EVC FBN1 NKX2-5 TFAP2A
3 growth/size/body region MP:0005378 10.14 BMP4 CITED2 COL3A1 EP300 EVC FBN1
4 craniofacial MP:0005382 10.1 BMP4 CITED2 EP300 EVC FBN1 NKX2-5
5 embryo MP:0005380 10.06 BMP4 CITED2 EP300 FBN1 NKX2-5 TBX5
6 mortality/aging MP:0010768 10.06 BMP4 CITED2 COL3A1 EP300 EVC FBN1
7 digestive/alimentary MP:0005381 10.02 BMP4 CITED2 COL3A1 EP300 NKX2-5 TFAP2A
8 endocrine/exocrine gland MP:0005379 9.98 BMP4 CITED2 EP300 FBN1 NKX2-5 TFAP2A
9 limbs/digits/tail MP:0005371 9.91 TBX5 TFAP2A TFAP2B BMP4 CITED2 EVC
10 muscle MP:0005369 9.91 ACTA2 BMP4 COL3A1 EP300 FBN1 NKX2-5
11 normal MP:0002873 9.7 NKX2-5 TBX5 TFAP2A TGFBR2 BMP4 CITED2
12 respiratory system MP:0005388 9.61 COL3A1 EP300 FBN1 NKX2-5 TFAP2A TFAP2B
13 skeleton MP:0005390 9.17 BMP4 CITED2 EVC FBN1 TBX5 TFAP2A

Drugs & Therapeutics for Char Syndrome

Drugs for Char Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hypnotics and Sedatives Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Sedation Management in Pediatric Patients With Acute Respiratory Failure (The RESTORE Study) Completed NCT00814099 Phase 3

Search NIH Clinical Center for Char Syndrome

Cochrane evidence based reviews: char syndrome

Genetic Tests for Char Syndrome

Genetic tests related to Char Syndrome:

id Genetic test Affiliating Genes
1 Char Syndrome 29 24 TFAP2B

Anatomical Context for Char Syndrome

MalaCards organs/tissues related to Char Syndrome:

39
Heart, Bone, Eye

Publications for Char Syndrome

Articles related to Char Syndrome:

id 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
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. ( 10802654 )
2000
4
Further delineation of Char syndrome. ( 10703243 )
2000
5
Char syndrome: an additional family with polythelia, a new finding. ( 11102923 )
2000
6
Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype. ( 10955477 )
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
id 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
id 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 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 ACTA2 BMP4 COL3A1 EP300 FBN1
2
Show member pathways
12.18 BMP4 NKX2-5 TBX5 TGFBR2
3
Show member pathways
11.97 EP300 NKX2-5 TBX5
4 11.8 BMP4 NKX2-5 TBX5
5 11.64 BMP4 TFAP2A TFAP2B
6 11.64 ACTA2 BMP4 EP300 TGFBR2
7 11.5 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 10.99 BMP4 NKX2-5 TBX5
12 10.92 FBN1 TGFBR2
13
Show member pathways
10.89 CITED2 EP300 TFAP2A TFAP2B
14 10.85 BMP4 NKX2-5

GO Terms for Char Syndrome

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

(show all 45)
id Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.87 CITED2 EP300 TGFBR2
2 skeletal system development GO:0001501 9.87 BMP4 COL3A1 EVC FBN1
3 cartilage development GO:0051216 9.83 BMP4 EVC TGFBR2
4 smoothened signaling pathway GO:0007224 9.82 BMP4 EVC TGFBR2
5 response to mechanical stimulus GO:0009612 9.81 CITED2 COL3A1 TGFBR2
6 response to estrogen GO:0043627 9.81 CITED2 EP300 TGFBR2
7 positive regulation of gene expression GO:0010628 9.8 ACTA2 BMP4 CITED2 EP300 NKX2-5 TFAP2A
8 regulation of cell differentiation GO:0045595 9.75 BMP4 TFAP2A TFAP2B
9 embryonic cranial skeleton morphogenesis GO:0048701 9.73 BMP4 TFAP2A TGFBR2
10 kidney development GO:0001822 9.73 BMP4 FBN1 TFAP2A TFAP2B
11 ventricular septum morphogenesis GO:0060412 9.71 CITED2 NKX2-5 TGFBR2
12 lung development GO:0030324 9.71 BMP4 EP300 TBX5 TGFBR2
13 embryonic forelimb morphogenesis GO:0035115 9.7 TBX5 TFAP2A
14 positive regulation of transcription, DNA-templated GO:0045893 9.7 BMP4 CITED2 EP300 NKX2-5 TBX5 TFAP2A
15 cardiac muscle cell differentiation GO:0055007 9.69 BMP4 NKX2-5 TBX5
16 coronary vasculature development GO:0060976 9.68 AP2B1 BMP4
17 retina layer formation GO:0010842 9.68 TFAP2A TFAP2B
18 lung morphogenesis GO:0060425 9.68 BMP4 TGFBR2
19 negative regulation of cardiac muscle cell proliferation GO:0060044 9.68 TBX5 TGFBR2
20 atrial septum morphogenesis GO:0060413 9.67 NKX2-5 TBX5
21 transforming growth factor beta receptor signaling pathway GO:0007179 9.67 COL3A1 TGFBR2
22 forelimb morphogenesis GO:0035136 9.67 TBX5 TFAP2B
23 atrioventricular valve morphogenesis GO:0003181 9.66 TBX5 TGFBR2
24 membranous septum morphogenesis GO:0003149 9.66 BMP4 TGFBR2
25 common-partner SMAD protein phosphorylation GO:0007182 9.63 BMP4 TGFBR2
26 outflow tract septum morphogenesis GO:0003148 9.63 BMP4 NKX2-5 TGFBR2
27 trachea formation GO:0060440 9.62 BMP4 TGFBR2
28 heart looping GO:0001947 9.62 NKX2-5 TGFBR2
29 vasculogenesis GO:0001570 9.61 NKX2-5 TGFBR2
30 positive regulation of cardioblast differentiation GO:0051891 9.61 NKX2-5 TBX5
31 embryonic heart tube left/right pattern formation GO:0060971 9.58 CITED2 NKX2-5
32 ventricular septum development GO:0003281 9.52 AP2B1 TBX5
33 bundle of His development GO:0003166 9.49 NKX2-5 TBX5
34 bronchus development GO:0060433 9.48 BMP4 TGFBR2
35 blood vessel development GO:0001568 9.43 BMP4 COL3A1 TGFBR2
36 bone morphogenesis GO:0060349 9.39 TFAP2A
37 vasculature development GO:0001944 9.39 BMP4
38 endocardial cushion development GO:0003197 9.37 BMP4 TBX5
39 heart development GO:0007507 9.28 AP2B1 BMP4 CITED2 COL3A1 EP300 FBN1
40 outflow tract morphogenesis GO:0003151 9.26 BMP4 CITED2 NKX2-5 TGFBR2
41 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.09 BMP4 CITED2 EP300 NKX2-5 TBX5 TFAP2A
42 negative regulation of transcription from RNA polymerase II promoter GO:0000122 10.07 BMP4 CITED2 EP300 NKX2-5 TFAP2A TFAP2B
43 negative regulation of transcription, DNA-templated GO:0045892 10.05 BMP4 CITED2 NKX2-5 TFAP2A TFAP2B
44 negative regulation of apoptotic process GO:0043066 10.04 BMP4 CITED2 NKX2-5 TFAP2A TFAP2B
45 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:

id Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 9.56 CITED2 EP300 TFAP2A TFAP2B
2 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.5 EP300 NKX2-5 TBX5
3 RNA polymerase II transcription corepressor activity GO:0001106 9.37 CITED2 TFAP2B
4 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 9.33 EP300 TFAP2A TFAP2B
5 chromatin binding GO:0003682 9.02 CITED2 EP300 NKX2-5 TFAP2A TFAP2B
6 SMAD binding GO:0046332 8.96 COL3A1 TGFBR2

Sources for Char Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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