CHAR
MCID: CHR101
MIFTS: 56

Char Syndrome (CHAR)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases

Aliases & Classifications for Char Syndrome

MalaCards integrated aliases for Char Syndrome:

Name: Char Syndrome 56 12 74 24 52 25 58 73 36 29 13 54 6 43 15 39 71
Patent Ductus Arteriosus with Facial Dysmorphism and Abnormal Fifth Digits 56 52 25 58
Char 56 52 73

Characteristics:

Orphanet epidemiological data:

58
char syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
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:

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:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060563
OMIM 56 169100
KEGG 36 H00555
MESH via Orphanet 44 C538076
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1868570
Orphanet 58 ORPHA46627
MedGen 41 C1868570
UMLS 71 C1868570

Summaries for Char Syndrome

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. Most people with Char syndrome have a characteristic facial appearance that includes flattened cheek bones and a flat nasal bridge (the area of the nose between the eyes). The tip of the nose is also flat and broad. The eyes are wide-set with droopy eyelids (ptosis) and outside corners that point downward (down-slanting palpebral fissures). Additional facial differences include a shortened distance between the nose and upper lip (a short philtrum), a triangular-shaped mouth, and thick, prominent lips. Patent ductus arteriosus is a common heart defect in newborns, and it occurs in most babies with Char syndrome. Before birth, the ductus arteriosus forms a connection between two major arteries (the aorta and the pulmonary artery). This connection normally closes shortly after birth, but it remains open in babies with patent ductus arteriosus. If untreated, this heart defect causes infants to breathe rapidly, feed poorly, and gain weight slowly. In severe cases, it can lead to heart failure. People with patent ductus arteriosus also have an increased risk of infection. Hand abnormalities are another feature of Char syndrome. In most people with this condition, the middle section of the fifth (pinky) finger is shortened or absent. Other abnormalities of the hands and feet have been reported but are less common.

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 patent foramen ovale. An important gene associated with Char Syndrome is TFAP2B (Transcription Factor AP-2 Beta), and among its related pathways/superpathways are Gene Expression and Apoptosis and Autophagy. The drugs Propofol and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, and related phenotypes are malar flattening and hypertelorism

Disease Ontology : 12

NIH Rare Diseases : 52 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.

KEGG : 36 Char syndrome is a rare autosomal dominant disorder characterized by a combination of three major features: typical facial features, patent ductus arteriosus, and hypoplasia of the middle phalanges of the fifth digits.

UniProtKB/Swiss-Prot : 73 Char syndrome: An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

Wikipedia : 74 Char syndrome is an autosomal dominant congenital disease caused by mutations in TFAP2B gene which... more...

More information 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 49)
# Related Disease Score Top Affiliating Genes
1 patent ductus arteriosus 1 31.2 TFAP2B TFAP2A TBX5 TBX20 NKX2-5 MYH11
2 patent foramen ovale 29.3 TBX5 TBX20 NKX2-5 CRELD1 CITED2
3 hypoplastic right heart syndrome 10.3 TBX5 TBX20
4 strabismus 10.3
5 mechanical strabismus 10.3
6 heart, malformation of 10.2 TBX5 NKX2-5
7 hypertelorism 10.2
8 polydactyly 10.2
9 atrial septal defect 4 10.1 TBX20 NKX2-5
10 eisenmenger syndrome 10.1 NKX2-5 CITED2
11 axenfeld-rieger syndrome, type 3 10.1 TBX20 PITX2
12 pulmonary valve disease 10.1 TBX5 NKX2-5
13 sinoatrial node disease 10.1 TBX5 NKX2-5
14 atrial septal defect 2 10.0 TBX20 NKX2-5
15 pulmonary valve stenosis 10.0 TBX5 NKX2-5
16 polydactyly, postaxial, type a1 10.0
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
18 scoliosis 10.0
19 ptosis 10.0
20 sensorineural hearing loss 10.0
21 diabetes insipidus 10.0
22 atrial septal defect 5 10.0 TBX5 TBX20 NKX2-5
23 tricuspid atresia 10.0 TBX5 TBX20 NKX2-5
24 hypogonadotropic hypogonadism 5 with or without anosmia 10.0 TBX5 NKX2-5 CITED2
25 tricuspid valve disease 10.0 TBX5 NKX2-5
26 ulnar-mammary syndrome 10.0 TBX5 TBX20 NKX2-5
27 ebstein anomaly 10.0 TBX5 TBX20 NKX2-5
28 coloboma of macula 10.0 TFAP2A TBX5 PITX2
29 total anomalous pulmonary venous return 1 10.0 TBX5 NKX2-5 CRELD1
30 wolff-parkinson-white syndrome 10.0 TBX5 TBX20 NKX2-5
31 branchiooculofacial syndrome 9.9 TFAP2C TFAP2B TFAP2A
32 ventricular septal defect 9.8 TBX5 TBX20 NKX2-5 CITED2
33 hypoplastic left heart syndrome 9.8 TBX5 TBX20 NKX2-5 CRELD1
34 colobomatous microphthalmia 9.8 TFAP2A PITX2
35 exencephaly 9.7 TFAP2C TFAP2B TFAP2A CITED2
36 left ventricular noncompaction 9.7 TBX5 TBX20 NKX2-5
37 aortic valve disease 1 9.7 TBX5 TBX20 NKX2-5 MYH11
38 dextro-looped transposition of the great arteries 9.7 TBX5 PITX2 NKX2-5 CRELD1
39 digeorge syndrome 9.6 TBX5 TBX20 PITX2 NKX2-5
40 orofacial cleft 9.6 TFAP2A SMIM23 PITX2
41 holt-oram syndrome 9.6 TFAP2B TBX5 TBX20 NKX2-5 CRELD1
42 atrioventricular septal defect 9.6 TBX5 TBX20 NKX2-5 CRELD1 CITED2
43 right atrial isomerism 9.5 TBX5 TBX20 PITX2 NKX2-5 CITED2
44 double outlet right ventricle 9.5 TBX5 TBX20 PITX2 NKX2-5 CITED2
45 familial atrial fibrillation 9.5 TBX5 PITX2 NKX2-5 KCNA2
46 heart septal defect 9.3 TBX5 TBX20 PITX2 NKX2-5 CRELD1 CITED2
47 atrial heart septal defect 9.1 TFAP2B TBX5 TBX20 PITX2 NKX2-5 CRELD1
48 tetralogy of fallot 9.1 TFAP2B TBX5 TBX20 PITX2 NKX2-5 CRELD1
49 heart disease 9.0 TFAP2B TBX5 TBX20 PITX2 NKX2-5 CRELD1

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:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
4 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
5 thick vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0012471
6 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
7 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
8 patent ductus arteriosus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001643
9 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
10 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
11 triangular mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000207
12 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
13 short middle phalanx of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004220
14 mesoaxial hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006159
15 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
16 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
17 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
18 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
19 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
20 prominent occiput 58 31 occasional (7.5%) Occasional (29-5%) HP:0000269
21 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
22 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
23 supernumerary nipple 58 31 occasional (7.5%) Occasional (29-5%) HP:0002558
24 persistence of primary teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006335
25 symphalangism of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004218
26 no permanent dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0008498
27 mesoaxial foot polydactyly 58 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 nasal tip 31 HP:0000455
33 highly arched eyebrow 31 HP:0002553
34 broad forehead 31 HP:0000337
35 hand polydactyly 58 Occasional (29-5%)
36 distal/middle symphalangism of 5th finger 31 HP:0009244
37 parasomnia 31 HP:0025234

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
thick, flared eyebrows

Head And Neck Face:
short philtrum
broad forehead

Cardiovascular Vascular:
patent ductus arteriosus

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

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)

Head And Neck Ears:
low-set ears
prominent ears

Head And Neck Nose:
broad nasal tip

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

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

Clinical features from OMIM:

169100

GenomeRNAi Phenotypes related to Char Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.23 CITED2 CRELD1 KCNA2 NKX2-5 TBX5 TFAP2A

MGI Mouse Phenotypes related to Char Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 CITED2 CRELD1 MYH11 NKX2-5 PITX2 TBX20
2 growth/size/body region MP:0005378 10.02 CITED2 KCNA2 MYH11 NKX2-5 PITX2 TBX20
3 mortality/aging MP:0010768 10 CITED2 CRELD1 KCNA2 MYH11 NKX2-5 PITX2
4 embryo MP:0005380 9.97 CITED2 CRELD1 NKX2-5 PITX2 TBX20 TBX5
5 muscle MP:0005369 9.63 MYH11 NKX2-5 PITX2 TBX20 TBX5 TFAP2B
6 normal MP:0002873 9.56 CITED2 NKX2-5 PITX2 SMIM23 TBX20 TBX5
7 respiratory system MP:0005388 9.17 CITED2 KCNA2 MYH11 NKX2-5 PITX2 TFAP2A

Drugs & Therapeutics for Char Syndrome

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
3 Neurotransmitter Agents Phase 4
4 Anesthetics Phase 4
5 Adrenergic Agonists Phase 4
6 Adrenergic alpha-2 Receptor Agonists Phase 4
7 Hypnotics and Sedatives Phase 4
8 Analgesics, Non-Narcotic Phase 4
9 Anesthetics, General Phase 4
10 Anesthetics, Intravenous Phase 4
11 Central Nervous System Depressants Phase 4
12 Adrenergic Agents Phase 4
13 Analgesics Phase 4
14
Dabigatran Investigational Phase 3 211914-51-1
15
protease inhibitors Phase 3
16 Antithrombins Phase 3
17 HIV Protease Inhibitors Phase 3
18 Serine Proteinase Inhibitors Phase 3
19 Anticoagulants Phase 3
20 Antithrombin III Phase 3
21
Serine Investigational, Nutraceutical Phase 3 56-45-1 5951
22 Anti-Retroviral Agents
23 Antiviral Agents
24 Anti-Infective Agents
25 Artemisinins
26 Artemisinine

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Dexmedetomidine vs Propofol TIVA and Interscalene Block for Shoulder Surgeries in a Beach Chair Sitting Position Completed NCT02469961 Phase 4 Dexmedetomidine;Propofol
2 Investigation on Appropriate Duration of Dabigatran Use After Catheter Ablation for Paroxysmal Atrial Fibrillation in Patients With Low Thromboembolic Risk Unknown status NCT02313584 Phase 3 dabigatran;placebo
3 Prevention of Secondary Transmission of Human Influenza by Promoting Handwashing With Soap: The Bangladesh Interruption of Secondary Transmission of Influenza Study (BISTIS) Completed NCT00880659 Phase 2
4 A Cross Sectional Evaluation of the Development in Children Age 4 to 7 Infected or Exposed to HIV From the ANRS 12140 Cohort (Pediacam) Unknown status NCT02570334
5 Open Label, Randomized, Blinded Study to Evaluate the Efficacy of Aquamantys System for Reducing the Transfusion Requirements Associated With the Anterior-Supine Intermuscular (ASI) Approach for Total Hip Arthroplasty (THA) Completed NCT01583465
6 Prevalence of Malaria Parasites in People Working in Illegal Gold Mining in French Guiana Completed NCT02903706
7 Randomized Controlled Study of Benefits of Ultrasonic Knife in Breast Cancer Surgery Completed NCT00996632
8 EPO2-A: Evaluation of Different Pre-Oxygenation Condition in Morbid Obesity: Effect of Position and Positive Pressure Ventilation During General Anesthesia Induction Completed NCT02590406
9 Intramural Needle Ablation for the Treatment of Refractory Ventricular Arrhythmias Recruiting NCT03204981
10 Bipolar Catheter Ablation for the Treatment of Refractory Scar-Related Ventricular Arrhythmia Suspended NCT02374476
11 Impact of Renal SympAthetic DenerVation on Chronic HypErtension Terminated NCT01628198

Search 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:

40
Heart, Bone, Eye, Breast

Publications for Char Syndrome

Articles related to Char Syndrome:

(show all 33)
# Title Authors PMID Year
1
Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. 54 61 24 56 6
11505339 2001
2
Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. 61 24 56 6
15684060 2005
3
Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype. 61 24 56 6
10955477 2000
4
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. 61 24 56 6
10802654 2000
5
Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21. 61 24 56 6
10368122 1999
6
Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B. 61 24 6
21643846 2011
7
Char syndrome: an additional family with polythelia, a new finding. 61 24 56
11102923 2000
8
Familial patent ductus arteriosus: a further case of CHAR syndrome. 61 24 56
9217229 1997
9
Familial occurrence of patent ductus arteriosus. 56 6
7645594 1995
10
A large family with patent ductus arteriosus and unusual face. 56 6
8326495 1993
11
Char Syndrome 61 6
20301285 2003
12
Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies). 61 56
1342853 1992
13
Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hypoplasia [corrected] of the 3rd finger. 61 24
22728731 2012
14
Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus. 61 24
18752453 2008
15
Further delineation of Char syndrome. 61 24
10703243 2000
16
Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome. 61 24
10533032 1999
17
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. 24
16444274 2006
18
Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus. 24
12409608 2002
19
Regulatory roles of AP-2 transcription factors in vertebrate development, apoptosis and cell-cycle control. 54 61
11137286 2000
20
Peculiar facies with short philtrum, duck-bill lips, ptosis and low-set ears--a new syndrome? 24
728571 1978
21
Char Syndrome a novel mutation and new insights: A clinical report. 61
30579973 2019
22
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. 61
31012281 2019
23
A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics. 61
29683802 2018
24
Tfap2b mutation in mice results in patent ductus arteriosus and renal malformation. 61
29804851 2018
25
TFAP2B mutation and dental anomalies. 61
28381879 2017
26
The AP-2 Transcription Factor APTF-2 Is Required for Neuroblast and Epidermal Morphogenesis in Caenorhabditis elegans Embryogenesis. 61
27176626 2016
27
AP-2β is a transcriptional regulator for determination of digit length in tetrapods. 61
26277217 2015
28
Characterization of transcription factor AP-2 β mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency. 61
24507797 2014
29
A heart-hand syndrome gene: Tfap2b plays a critical role in the development and remodeling of mouse ductus arteriosus and limb patterning. 61
21829553 2011
30
Insights into the pathogenesis and genetic background of patency of the ductus arteriosus. 61
19955832 2010
31
Patent arterial duct. 61
19591690 2009
32
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. 61
14722581 2004
33
Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus. 61
11376442 2000

Variations for Char Syndrome

ClinVar genetic disease variations for Char Syndrome:

6 (show top 50) (show all 102) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TFAP2B NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp)SNV Pathogenic 8039 rs80338914 6:50805690-50805690 6:50837977-50837977
2 TFAP2B NM_003221.4(TFAP2B):c.898C>T (p.Arg300Cys)SNV Pathogenic 8040 rs80338917 6:50805764-50805764 6:50838051-50838051
3 TFAP2B NM_003221.4(TFAP2B):c.706C>T (p.Arg236Cys)SNV Pathogenic 8041 rs80338912 6:50803878-50803878 6:50836165-50836165
4 TFAP2B NM_003221.4(TFAP2B):c.706C>A (p.Arg236Ser)SNV Pathogenic 8042 rs80338912 6:50803878-50803878 6:50836165-50836165
5 TFAP2B NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln)SNV Pathogenic 8043 rs80338915 6:50805720-50805720 6:50838007-50838007
6 TFAP2B NM_003221.4(TFAP2B):c.218C>G (p.Pro73Arg)SNV Pathogenic 8044 rs80338910 6:50791256-50791256 6:50823543-50823543
7 TFAP2B NM_003221.4(TFAP2B):c.601+5G>ASNV Pathogenic 21359 rs80338911 6:50796397-50796397 6:50828684-50828684
8 TFAP2B NM_003221.4(TFAP2B):c.822-1G>CSNV Pathogenic 21361 rs80338916 6:50805687-50805687 6:50837974-50837974
9 TFAP2B NM_003221.4(TFAP2B):c.650del (p.Gly217fs)deletion Pathogenic 599040 rs1561964103 6:50803821-50803821 6:50836108-50836108
10 TFAP2B NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met)SNV Likely pathogenic 599234 rs1232197674 6:50805783-50805783 6:50838070-50838070
11 TFAP2B NM_003221.4(TFAP2B):c.48T>G (p.Leu16=)SNV Conflicting interpretations of pathogenicity 357272 rs371608614 6:50786652-50786652 6:50818939-50818939
12 TFAP2B NM_003221.4(TFAP2B):c.522C>G (p.Pro174=)SNV Conflicting interpretations of pathogenicity 357276 rs886061565 6:50791560-50791560 6:50823847-50823847
13 TFAP2B NM_003221.4(TFAP2B):c.540+7ACAA[7]short repeat Conflicting interpretations of pathogenicity 357277 rs368226832 6:50791584-50791585 6:50823871-50823872
14 TFAP2B NM_003221.4(TFAP2B):c.*912_*913CA[6]short repeat Conflicting interpretations of pathogenicity 357303 rs35649205 6:50812016-50812017 6:50844303-50844304
15 TFAP2B NM_003221.4(TFAP2B):c.*912_*916deldeletion Uncertain significance 357305 rs886061577 6:50812017-50812021 6:50844304-50844308
16 TFAP2B NM_003221.4(TFAP2B):c.*1644deldeletion Uncertain significance 357314 rs886061581 6:50812748-50812748 6:50845035-50845035
17 TFAP2B NM_003221.4(TFAP2B):c.360T>C (p.Ser120=)SNV Uncertain significance 357274 rs886061564 6:50791398-50791398 6:50823685-50823685
18 TFAP2B NM_003221.4(TFAP2B):c.1267G>C (p.Glu423Gln)SNV Uncertain significance 357285 rs886061567 6:50810989-50810989 6:50843276-50843276
19 TFAP2B NM_003221.4(TFAP2B):c.*60T>ASNV Uncertain significance 357288 rs886061569 6:50811165-50811165 6:50843452-50843452
20 TFAP2B NM_003221.4(TFAP2B):c.*136T>GSNV Uncertain significance 357291 rs2982621 6:50811241-50811241 6:50843528-50843528
21 TFAP2B NM_003221.4(TFAP2B):c.*1427deldeletion Uncertain significance 357313 rs886061580 6:50812530-50812530 6:50844817-50844817
22 TFAP2B NM_003221.4(TFAP2B):c.*1742T>CSNV Uncertain significance 357316 rs886061582 6:50812847-50812847 6:50845134-50845134
23 TFAP2B NM_003221.4(TFAP2B):c.*1765T>CSNV Uncertain significance 357317 rs886061583 6:50812870-50812870 6:50845157-50845157
24 TFAP2B NM_003221.4(TFAP2B):c.*910_*911insCinsertion Uncertain significance 357302 rs1554165384 6:50812015-50812016 6:50844302-50844303
25 TFAP2B NM_003221.4(TFAP2B):c.*1223A>GSNV Uncertain significance 357308 rs886061579 6:50812328-50812328 6:50844615-50844615
26 TFAP2B NM_003221.4(TFAP2B):c.*2497C>GSNV Uncertain significance 357331 rs886061587 6:50813602-50813602 6:50845889-50845889
27 TFAP2B NM_003221.4(TFAP2B):c.*3995T>CSNV Uncertain significance 357348 rs201889632 6:50815100-50815100 6:50847387-50847387
28 TFAP2B NM_003221.4(TFAP2B):c.*4165G>TSNV Uncertain significance 357352 rs534021085 6:50815270-50815270 6:50847557-50847557
29 TFAP2B NM_003221.4(TFAP2B):c.*135_*136deldeletion Uncertain significance 357289 rs140657288 6:50811238-50811239 6:50843525-50843526
30 TFAP2B NM_003221.4(TFAP2B):c.1235C>G (p.Ala412Gly)SNV Uncertain significance 357284 rs886061566 6:50810957-50810957 6:50843244-50843244
31 TFAP2B NM_003221.3(TFAP2B):c.-106A>TSNV Uncertain significance 357269 rs749242065 6:50786499-50786499 6:50818786-50818786
32 TFAP2B NM_003221.4(TFAP2B):c.*2200C>TSNV Uncertain significance 357326 rs886061586 6:50813305-50813305 6:50845592-50845592
33 TFAP2B NM_003221.4(TFAP2B):c.*3096A>GSNV Uncertain significance 357340 rs886061590 6:50814201-50814201 6:50846488-50846488
34 TFAP2B NM_003221.4(TFAP2B):c.*369C>TSNV Uncertain significance 357294 rs886061571 6:50811474-50811474 6:50843761-50843761
35 TFAP2B NM_003221.4(TFAP2B):c.*477C>TSNV Uncertain significance 357295 rs762515397 6:50811582-50811582 6:50843869-50843869
36 TFAP2B NM_003221.4(TFAP2B):c.*910_*911deldeletion Uncertain significance 357299 rs35732696 6:50812004-50812005 6:50844291-50844292
37 TFAP2B NM_003221.4(TFAP2B):c.*911_*915deldeletion Uncertain significance 357300 rs770818655 6:50812015-50812019 6:50844302-50844306
38 TFAP2B NM_003221.4(TFAP2B):c.*911deldeletion Uncertain significance 357298 rs35732696 6:50812004-50812004 6:50844291-50844291
39 TFAP2B NM_003221.4(TFAP2B):c.*912_*913CA[5]short repeat Uncertain significance 357304 rs35649205 6:50812016-50812019 6:50844303-50844306
40 TFAP2B NM_003221.4(TFAP2B):c.*1199A>GSNV Uncertain significance 357307 rs886061578 6:50812304-50812304 6:50844591-50844591
41 TFAP2B NM_003221.4(TFAP2B):c.406G>C (p.Asp136His)SNV Uncertain significance 357275 rs139904414 6:50791444-50791444 6:50823731-50823731
42 TFAP2B NM_003221.4(TFAP2B):c.*3725C>ASNV Uncertain significance 357345 rs770622965 6:50814830-50814830 6:50847117-50847117
43 TFAP2B NM_003221.4(TFAP2B):c.*3955G>CSNV Uncertain significance 357347 rs12374644 6:50815060-50815060 6:50847347-50847347
44 TFAP2B NM_003221.4(TFAP2B):c.*912_*913CA[8]short repeat Uncertain significance 357301 rs35649205 6:50812015-50812016 6:50844302-50844303
45 TFAP2B NM_003221.4(TFAP2B):c.*2003A>GSNV Uncertain significance 357325 rs886061585 6:50813108-50813108 6:50845395-50845395
46 TFAP2B NM_003221.4(TFAP2B):c.*2218T>ASNV Uncertain significance 357327 rs545250166 6:50813323-50813323 6:50845610-50845610
47 TFAP2B NM_003221.4(TFAP2B):c.*2778T>CSNV Uncertain significance 357335 rs886061588 6:50813883-50813883 6:50846170-50846170
48 TFAP2B NM_003221.4(TFAP2B):c.*3078C>GSNV Uncertain significance 357338 rs886061589 6:50814183-50814183 6:50846470-50846470
49 TFAP2B NM_003221.3(TFAP2B):c.-83G>ASNV Uncertain significance 357270 rs886061563 6:50786522-50786522 6:50818809-50818809
50 TFAP2B NM_003221.4(TFAP2B):c.*3397C>TSNV Likely benign 357341 rs144819786 6:50814502-50814502 6:50846789-50846789

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

73
# 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

Expression for Char Syndrome

Search GEO for disease gene expression data for Char Syndrome.

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 nuclear chromatin GO:0000790 9.23 TFAP2C TFAP2B TFAP2A TBX5 TBX20 PITX2

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.99 TFAP2C TFAP2B TFAP2A PITX2 NKX2-5 CITED2
2 negative regulation of transcription, DNA-templated GO:0045892 9.97 TFAP2B TFAP2A TBX20 NKX2-5 CITED2
3 negative regulation of apoptotic process GO:0043066 9.95 TFAP2B TFAP2A NKX2-5 CITED2
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.91 TFAP2C TFAP2B TFAP2A TBX5 TBX20 NKX2-5
5 heart development GO:0007507 9.86 TBX5 NKX2-5 CITED2 AP2B1
6 regulation of transcription, DNA-templated GO:0006355 9.81 YEATS4 TFAP2C TFAP2B TFAP2A TBX5 TBX20
7 heart looping GO:0001947 9.72 TBX20 NKX2-5 CITED2
8 vasculogenesis GO:0001570 9.71 TBX20 NKX2-5 CITED2
9 outflow tract morphogenesis GO:0003151 9.67 TBX20 NKX2-5 CITED2
10 positive regulation of cardiac muscle cell proliferation GO:0060045 9.65 TBX5 TBX20
11 ventricular septum morphogenesis GO:0060412 9.65 NKX2-5 CITED2
12 bone morphogenesis GO:0060349 9.64 TFAP2A CITED2
13 cell fate specification GO:0001708 9.64 TBX5 TBX20
14 embryonic forelimb morphogenesis GO:0035115 9.63 TFAP2A TBX5
15 outflow tract septum morphogenesis GO:0003148 9.63 TBX20 NKX2-5
16 cardiac muscle cell differentiation GO:0055007 9.62 TBX5 NKX2-5
17 negative regulation of cardiac muscle cell proliferation GO:0060044 9.62 TBX5 CITED2
18 retina layer formation GO:0010842 9.61 TFAP2B TFAP2A
19 embryonic heart tube development GO:0035050 9.61 TBX20 NKX2-5
20 spleen development GO:0048536 9.61 PITX2 NKX2-5 CITED2
21 cardiac septum development GO:0003279 9.6 TBX20 CRELD1
22 left/right axis specification GO:0070986 9.59 PITX2 CITED2
23 cardiac muscle tissue morphogenesis GO:0055008 9.58 TBX20 NKX2-5
24 forelimb morphogenesis GO:0035136 9.58 TFAP2B TBX5
25 ventricular septum development GO:0003281 9.58 TBX5 CITED2 AP2B1
26 positive regulation of cardioblast differentiation GO:0051891 9.52 TBX5 NKX2-5
27 atrial septum morphogenesis GO:0060413 9.5 TBX5 TBX20 NKX2-5
28 positive regulation of transcription, DNA-templated GO:0045893 9.5 YEATS4 TFAP2B TFAP2A TBX5 TBX20 NKX2-5
29 embryonic heart tube left/right pattern formation GO:0060971 9.48 NKX2-5 CITED2
30 bundle of His development GO:0003166 9.46 TBX5 NKX2-5
31 endocardial cushion development GO:0003197 9.43 TBX5 CRELD1 CITED2
32 positive regulation of transcription by RNA polymerase II GO:0045944 9.28 YEATS4 TFAP2C TFAP2B TFAP2A TBX5 TBX20

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.01 YEATS4 TFAP2C TFAP2B TFAP2A TBX5 TBX20
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.87 TFAP2C TFAP2B TFAP2A TBX5 TBX20 PITX2
3 sequence-specific DNA binding GO:0043565 9.83 TFAP2B TFAP2A TBX5 PITX2 NKX2-5
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.77 TFAP2C TFAP2B TFAP2A TBX5 TBX20
5 chromatin binding GO:0003682 9.76 TFAP2B TFAP2A NKX2-5 CITED2
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.73 TFAP2C TFAP2B TFAP2A TBX5 TBX20 NKX2-5
7 protein dimerization activity GO:0046983 9.65 TFAP2C TFAP2B TFAP2A
8 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.5 TFAP2C TFAP2B TFAP2A TBX5 TBX20 PITX2
9 RNA polymerase II activating transcription factor binding GO:0001102 9.46 TBX5 TBX20 PITX2 CITED2
10 DNA-binding transcription factor activity GO:0003700 9.28 YEATS4 TFAP2C TFAP2B TFAP2A TBX5 TBX20

Sources for Char Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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