CHAR
MCID: CHR101
MIFTS: 58

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 57 12 75 24 53 25 59 74 37 29 13 55 6 44 15 40 72
Patent Ductus Arteriosus with Facial Dysmorphism and Abnormal Fifth Digits 57 53 25 59
Char 57 53 74

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:

Disease Ontology 12 DOID:0060563
OMIM 57 169100
KEGG 37 H00555
MESH via Orphanet 45 C538076
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1868570
Orphanet 59 ORPHA46627
MedGen 42 C1868570
UMLS 72 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 polydactyly, postaxial, type a1. 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. The drugs Dexmedetomidine and Propofol 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 : 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.

KEGG : 37
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 : 74 Char syndrome: An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

Wikipedia : 75 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 35)
# Related Disease Score Top Affiliating Genes
1 patent ductus arteriosus 1 32.8 TFAP2B TFAP2A NKX2-5
2 polydactyly, postaxial, type a1 30.3 EVC BMP4
3 patent foramen ovale 30.0 TBX5 NKX2-5 CITED2
4 exencephaly 10.3 TFAP2B TFAP2A CITED2
5 familial abdominal aortic aneurysm 10.2 FBN1 COL3A1
6 strabismus 10.2
7 mechanical strabismus 10.2
8 hypertelorism 10.2
9 polydactyly 10.2
10 lens subluxation 10.1 TFAP2A FBN1
11 heart septal defect 10.1 TBX5 NKX2-5 CITED2
12 atrioventricular septal defect 10.1 TBX5 NKX2-5 EVC
13 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
14 scoliosis 10.0
15 ptosis 10.0
16 sensorineural hearing loss 10.0
17 diabetes insipidus 10.0
18 dental pulp calcification 10.0 TGFBR2 FBN1
19 eisenmenger syndrome 9.9 TGFBR2 NKX2-5 CITED2
20 tricuspid valve insufficiency 9.9 FBN1 CPB1
21 tricuspid valve disease 9.9 NKX2-5 FBN1
22 familial thoracic aortic aneurysm and dissection 9.9 TGFBR2 FBN1 COL3A1
23 aortic aneurysm 9.9 TGFBR2 FBN1 COL3A1
24 ventricular septal defect 9.9 TBX5 NKX2-5 EVC CITED2
25 loeys-dietz syndrome 3 9.9 TGFBR2 FBN1 COL3A1
26 loeys-dietz syndrome 9.9 TGFBR2 FBN1 COL3A1
27 aortic aneurysm, familial thoracic 1 9.8 TGFBR2 FBN1 COL3A1
28 loeys-dietz syndrome 1 9.8 TGFBR2 FBN1 COL3A1
29 marfan syndrome 9.8 TGFBR2 FBN1 COL3A1
30 holt-oram syndrome 9.8 TBX5 NKX2-5 EP300
31 mitral valve insufficiency 9.8 TBX5 FBN1
32 aortic valve disease 1 9.7 TGFBR2 NKX2-5 FBN1
33 tetralogy of fallot 9.7 TBX5 NKX2-5 FBN1 CITED2
34 cleft palate, isolated 9.7 TGFBR2 TFAP2A BMP4
35 heart disease 9.5 TFAP2B TBX5 NKX2-5 EVC CITED2

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:

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

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Char Syndrome:

46 (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

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3 Neurotransmitter Agents Phase 4
4 Analgesics Phase 4
5 Adrenergic alpha-2 Receptor Agonists Phase 4
6 Adrenergic Agonists Phase 4
7 Peripheral Nervous System Agents Phase 4
8 Analgesics, Non-Narcotic Phase 4
9 Adrenergic alpha-Agonists Phase 4
10 Central Nervous System Depressants Phase 4
11 Hypnotics and Sedatives Phase 4
12 Anesthetics Phase 4
13 Anesthetics, General Phase 4
14 Adrenergic Agents Phase 4
15 Anesthetics, Intravenous Phase 4
16
Serine Approved, Nutraceutical Phase 3 56-45-1 5951
17
Dabigatran Investigational Phase 3 211914-51-1
18
protease inhibitors Phase 3
19 HIV Protease Inhibitors Phase 3
20 Antithrombin III Phase 3
21 Antithrombins Phase 3
22 Serine Proteinase Inhibitors Phase 3
23 Anticoagulants Phase 3
24 Anti-Infective Agents
25 Antiviral Agents
26 Anti-Retroviral Agents
27 Artemisinins
28 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:

41
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. 9 38 4 8 71
11505339 2001
2
Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. 38 4 8 71
15684060 2005
3
Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype. 38 4 8 71
10955477 2000
4
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. 38 4 8 71
10802654 2000
5
Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21. 38 4 8 71
10368122 1999
6
Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B. 38 4 71
21643846 2011
7
Char syndrome: an additional family with polythelia, a new finding. 38 4 8
11102923 2000
8
Familial patent ductus arteriosus: a further case of CHAR syndrome. 38 4 8
9217229 1997
9
Familial occurrence of patent ductus arteriosus. 8 71
7645594 1995
10
A large family with patent ductus arteriosus and unusual face. 8 71
8326495 1993
11
Char Syndrome 38 71
20301285 2003
12
Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies). 38 8
1342853 1992
13
Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hypoplasia [corrected] of the 3rd finger. 38 4
22728731 2012
14
Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus. 38 4
18752453 2008
15
Further delineation of Char syndrome. 38 4
10703243 2000
16
Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome. 38 4
10533032 1999
17
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. 4
16444274 2006
18
Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus. 4
12409608 2002
19
Regulatory roles of AP-2 transcription factors in vertebrate development, apoptosis and cell-cycle control. 9 38
11137286 2000
20
Peculiar facies with short philtrum, duck-bill lips, ptosis and low-set ears--a new syndrome? 4
728571 1978
21
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. 38
31012281 2019
22
Char Syndrome a novel mutation and new insights: A clinical report. 38
30579973 2018
23
Tfap2b mutation in mice results in patent ductus arteriosus and renal malformation. 38
29804851 2018
24
A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics. 38
29683802 2018
25
TFAP2B mutation and dental anomalies. 38
28381879 2017
26
The AP-2 Transcription Factor APTF-2 Is Required for Neuroblast and Epidermal Morphogenesis in Caenorhabditis elegans Embryogenesis. 38
27176626 2016
27
AP-2β is a transcriptional regulator for determination of digit length in tetrapods. 38
26277217 2015
28
Characterization of transcription factor AP-2 β mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency. 38
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. 38
21829553 2011
30
Insights into the pathogenesis and genetic background of patency of the ductus arteriosus. 38
19955832 2010
31
Patent arterial duct. 38
19591690 2009
32
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. 38
14722581 2004
33
Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus. 38
11376442 2000

Variations for Char Syndrome

ClinVar genetic disease variations for Char Syndrome:

6 (show top 50) (show all 102)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TFAP2B NM_003221.4(TFAP2B): c.824C> A (p.Ala275Asp) single nucleotide variant Pathogenic rs80338914 6:50805690-50805690 6:50837977-50837977
2 TFAP2B NM_003221.4(TFAP2B): c.898C> T (p.Arg300Cys) single nucleotide variant Pathogenic rs80338917 6:50805764-50805764 6:50838051-50838051
3 TFAP2B NM_003221.4(TFAP2B): c.706C> T (p.Arg236Cys) single nucleotide variant Pathogenic rs80338912 6:50803878-50803878 6:50836165-50836165
4 TFAP2B NM_003221.4(TFAP2B): c.706C> A (p.Arg236Ser) single nucleotide variant Pathogenic rs80338912 6:50803878-50803878 6:50836165-50836165
5 TFAP2B NM_003221.4(TFAP2B): c.854G> A (p.Arg285Gln) single nucleotide variant Pathogenic rs80338915 6:50805720-50805720 6:50838007-50838007
6 TFAP2B NM_003221.4(TFAP2B): c.218C> G (p.Pro73Arg) single nucleotide variant Pathogenic rs80338910 6:50791256-50791256 6:50823543-50823543
7 TFAP2B NM_003221.4(TFAP2B): c.601+5G> A single nucleotide variant Pathogenic rs80338911 6:50796397-50796397 6:50828684-50828684
8 TFAP2B NM_003221.4(TFAP2B): c.822-1G> C single nucleotide variant Pathogenic rs80338916 6:50805687-50805687 6:50837974-50837974
9 TFAP2B NM_003221.4(TFAP2B): c.650del (p.Gly217fs) deletion Pathogenic 6:50803822-50803822 6:50836109-50836109
10 TFAP2B NM_003221.4(TFAP2B): c.917C> T (p.Thr306Met) single nucleotide variant Likely pathogenic 6:50805783-50805783 6:50838070-50838070
11 TFAP2B NM_003221.4(TFAP2B): c.*912_*913CA[6] short repeat Conflicting interpretations of pathogenicity rs35649205 6:50812029-50812030 6:50844316-50844317
12 TFAP2B NM_003221.4(TFAP2B): c.360T> C (p.Ser120=) single nucleotide variant Uncertain significance rs886061564 6:50791398-50791398 6:50823685-50823685
13 TFAP2B NM_003221.4(TFAP2B): c.*1644del deletion Uncertain significance rs886061581 6:50812749-50812749 6:50845036-50845036
14 TFAP2B NM_003221.4(TFAP2B): c.1267G> C (p.Glu423Gln) single nucleotide variant Uncertain significance rs886061567 6:50810989-50810989 6:50843276-50843276
15 TFAP2B NM_003221.4(TFAP2B): c.*60T> A single nucleotide variant Uncertain significance rs886061569 6:50811165-50811165 6:50843452-50843452
16 TFAP2B NM_003221.4(TFAP2B): c.*136T> G single nucleotide variant Uncertain significance rs2982621 6:50811241-50811241 6:50843528-50843528
17 TFAP2B NM_003221.4(TFAP2B): c.*910_*911insC insertion Uncertain significance rs1554165384 6:50812015-50812016 6:50844302-50844303
18 TFAP2B NM_003221.4(TFAP2B): c.*1223A> G single nucleotide variant Uncertain significance rs886061579 6:50812328-50812328 6:50844615-50844615
19 TFAP2B NM_003221.4(TFAP2B): c.*1427del deletion Uncertain significance rs886061580 6:50812532-50812532 6:50844819-50844819
20 TFAP2B NM_003221.4(TFAP2B): c.*1742T> C single nucleotide variant Uncertain significance rs886061582 6:50812847-50812847 6:50845134-50845134
21 TFAP2B NM_003221.4(TFAP2B): c.*1765T> C single nucleotide variant Uncertain significance rs886061583 6:50812870-50812870 6:50845157-50845157
22 TFAP2B NM_003221.4(TFAP2B): c.*2497C> G single nucleotide variant Uncertain significance rs886061587 6:50813602-50813602 6:50845889-50845889
23 TFAP2B NM_003221.4(TFAP2B): c.*3995T> C single nucleotide variant Uncertain significance rs201889632 6:50815100-50815100 6:50847387-50847387
24 TFAP2B NM_003221.4(TFAP2B): c.*4165G> T single nucleotide variant Uncertain significance rs534021085 6:50815270-50815270 6:50847557-50847557
25 TFAP2B NM_003221.4(TFAP2B): c.*369C> T single nucleotide variant Uncertain significance rs886061571 6:50811474-50811474 6:50843761-50843761
26 TFAP2B NM_003221.4(TFAP2B): c.*477C> T single nucleotide variant Uncertain significance rs762515397 6:50811582-50811582 6:50843869-50843869
27 TFAP2B NM_003221.4(TFAP2B): c.*910_*911del deletion Uncertain significance rs35732696 6:50812015-50812016 6:50844302-50844303
28 TFAP2B NM_003221.4(TFAP2B): c.*911_*915del deletion Uncertain significance rs770818655 6:50812016-50812020 6:50844303-50844307
29 TFAP2B NM_003221.4(TFAP2B): c.*911del deletion Uncertain significance rs35732696 6:50812016-50812016 6:50844303-50844303
30 TFAP2B NM_003221.4(TFAP2B): c.*912_*913CA[5] short repeat Uncertain significance rs35649205 6:50812027-50812030 6:50844314-50844317
31 TFAP2B NM_003221.4(TFAP2B): c.*1199A> G single nucleotide variant Uncertain significance rs886061578 6:50812304-50812304 6:50844591-50844591
32 TFAP2B NM_003221.3(TFAP2B): c.-106A> T single nucleotide variant Uncertain significance rs749242065 6:50786499-50786499 6:50818786-50818786
33 TFAP2B NM_003221.4(TFAP2B): c.522C> G (p.Pro174=) single nucleotide variant Uncertain significance rs886061565 6:50791560-50791560 6:50823847-50823847
34 TFAP2B NM_003221.4(TFAP2B): c.1235C> G (p.Ala412Gly) single nucleotide variant Uncertain significance rs886061566 6:50810957-50810957 6:50843244-50843244
35 TFAP2B NM_003221.4(TFAP2B): c.*2200C> T single nucleotide variant Uncertain significance rs886061586 6:50813305-50813305 6:50845592-50845592
36 TFAP2B NM_003221.4(TFAP2B): c.*3096A> G single nucleotide variant Uncertain significance rs886061590 6:50814201-50814201 6:50846488-50846488
37 TFAP2B NM_003221.3(TFAP2B): c.540+28_540+31dupCAAA duplication Uncertain significance rs368226832 6:50791606-50791609 6:50823893-50823896
38 TFAP2B NM_003221.4(TFAP2B): c.*135_*136del deletion Uncertain significance rs140657288 6:50811240-50811241 6:50843527-50843528
39 TFAP2B NM_003221.4(TFAP2B): c.*2003A> G single nucleotide variant Uncertain significance rs886061585 6:50813108-50813108 6:50845395-50845395
40 TFAP2B NM_003221.4(TFAP2B): c.*2218T> A single nucleotide variant Uncertain significance rs545250166 6:50813323-50813323 6:50845610-50845610
41 TFAP2B NM_003221.4(TFAP2B): c.*912_*916del deletion Uncertain significance rs886061577 6:50812017-50812021 6:50844304-50844308
42 TFAP2B NM_003221.4(TFAP2B): c.*3725C> A single nucleotide variant Uncertain significance rs770622965 6:50814830-50814830 6:50847117-50847117
43 TFAP2B NM_003221.4(TFAP2B): c.*3955G> C single nucleotide variant Uncertain significance rs12374644 6:50815060-50815060 6:50847347-50847347
44 TFAP2B NM_003221.3(TFAP2B): c.-83G> A single nucleotide variant Uncertain significance rs886061563 6:50786522-50786522 6:50818809-50818809
45 TFAP2B NM_003221.4(TFAP2B): c.48T> G (p.Leu16=) single nucleotide variant Uncertain significance rs371608614 6:50786652-50786652 6:50818939-50818939
46 TFAP2B NM_003221.4(TFAP2B): c.406G> C (p.Asp136His) single nucleotide variant Uncertain significance rs139904414 6:50791444-50791444 6:50823731-50823731
47 TFAP2B NM_003221.4(TFAP2B): c.*912_*913CA[8] short repeat Uncertain significance rs35649205 6:50812029-50812030 6:50844316-50844317
48 TFAP2B NM_003221.4(TFAP2B): c.*2778T> C single nucleotide variant Uncertain significance rs886061588 6:50813883-50813883 6:50846170-50846170
49 TFAP2B NM_003221.4(TFAP2B): c.*3078C> G single nucleotide variant Uncertain significance rs886061589 6:50814183-50814183 6:50846470-50846470
50 TFAP2B NM_003221.4(TFAP2B): c.*3397C> T single nucleotide variant Likely benign rs144819786 6:50814502-50814502 6:50846789-50846789

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

74
# 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.

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 TGFBR2 TBX5 NKX2-5 BMP4
2
Show member pathways
11.95 TBX5 NKX2-5 EP300
3 11.75 TGFBR2 EP300 BMP4
4 11.73 TBX5 NKX2-5 BMP4
5 11.59 TFAP2B TFAP2A BMP4
6 11.52 TGFBR2 EP300 BMP4
7 11.42 TGFBR2 EP300 BMP4
8 11.2 TGFBR2 EP300 BMP4
9
Show member pathways
11.1 EP300 CITED2
10 11.07 EP300 CITED2
11 11.06 TBX5 NKX2-5 BMP4
12
Show member pathways
10.89 TFAP2B TFAP2A EP300 CITED2
13 10.88 TGFBR2 FBN1
14 10.8 NKX2-5 BMP4
15 10.79 TBX5 NKX2-5 BMP4

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 TBX5 NKX2-5 EP300

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 positive regulation of gene expression GO:0010628 9.99 TFAP2A NKX2-5 EP300 CITED2 BMP4
2 response to hypoxia GO:0001666 9.87 TGFBR2 EP300 CITED2
3 transforming growth factor beta receptor signaling pathway GO:0007179 9.85 TGFBR2 COL3A1 CITED2
4 skeletal system development GO:0001501 9.85 FBN1 EVC COL3A1 BMP4
5 cartilage development GO:0051216 9.83 TGFBR2 EVC BMP4
6 smoothened signaling pathway GO:0007224 9.82 TGFBR2 EVC BMP4
7 response to mechanical stimulus GO:0009612 9.82 TGFBR2 COL3A1 CITED2
8 response to estrogen GO:0043627 9.81 TGFBR2 EP300 CITED2
9 vasculogenesis GO:0001570 9.79 TGFBR2 NKX2-5 CITED2
10 heart looping GO:0001947 9.79 TGFBR2 NKX2-5 CITED2
11 kidney development GO:0001822 9.76 TFAP2B TFAP2A FBN1 BMP4
12 regulation of cell differentiation GO:0045595 9.74 TFAP2B TFAP2A BMP4
13 ventricular septum morphogenesis GO:0060412 9.73 TGFBR2 NKX2-5 CITED2
14 metanephros development GO:0001656 9.71 FBN1 BMP4
15 spleen development GO:0048536 9.71 NKX2-5 CITED2
16 positive regulation of bone mineralization GO:0030501 9.71 TFAP2A BMP4
17 embryonic cranial skeleton morphogenesis GO:0048701 9.71 TGFBR2 TFAP2A BMP4
18 digestive tract development GO:0048565 9.7 TGFBR2 COL3A1
19 bone morphogenesis GO:0060349 9.7 TFAP2A CITED2
20 embryonic forelimb morphogenesis GO:0035115 9.7 TFAP2A TBX5
21 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.7 EP300 CITED2
22 coronary vasculature development GO:0060976 9.69 BMP4 AP2B1
23 vasculature development GO:0001944 9.69 CITED2 BMP4
24 ventricular septum development GO:0003281 9.69 TBX5 CITED2 AP2B1
25 retina layer formation GO:0010842 9.68 TFAP2B TFAP2A
26 lung morphogenesis GO:0060425 9.68 TGFBR2 BMP4
27 atrial septum morphogenesis GO:0060413 9.68 TBX5 NKX2-5
28 atrioventricular valve morphogenesis GO:0003181 9.67 TGFBR2 TBX5
29 forelimb morphogenesis GO:0035136 9.67 TFAP2B TBX5
30 lung development GO:0030324 9.67 TGFBR2 TBX5 EP300 BMP4
31 membranous septum morphogenesis GO:0003149 9.66 TGFBR2 BMP4
32 outflow tract septum morphogenesis GO:0003148 9.65 TGFBR2 NKX2-5 BMP4
33 trachea formation GO:0060440 9.63 TGFBR2 BMP4
34 positive regulation of cardioblast differentiation GO:0051891 9.63 TBX5 NKX2-5
35 common-partner SMAD protein phosphorylation GO:0007182 9.62 TGFBR2 BMP4
36 embryonic heart tube left/right pattern formation GO:0060971 9.61 NKX2-5 CITED2
37 cardiac muscle cell differentiation GO:0055007 9.61 TBX5 NKX2-5 BMP4
38 bundle of His development GO:0003166 9.58 TBX5 NKX2-5
39 negative regulation of cardiac muscle cell proliferation GO:0060044 9.58 TGFBR2 TBX5 CITED2
40 outflow tract morphogenesis GO:0003151 9.56 TGFBR2 NKX2-5 CITED2 BMP4
41 bronchus development GO:0060433 9.52 TGFBR2 BMP4
42 endocardial cushion development GO:0003197 9.5 TBX5 CITED2 BMP4
43 positive regulation of transcription, DNA-templated GO:0045893 9.5 TFAP2B TFAP2A TBX5 NKX2-5 EP300 CITED2
44 blood vessel development GO:0001568 9.46 TGFBR2 COL3A1 CITED2 BMP4
45 heart development GO:0007507 9.28 TGFBR2 TBX5 NKX2-5 FBN1 EP300 COL3A1
46 regulation of transcription, DNA-templated GO:0006355 10.16 TFAP2B TFAP2A TBX5 NKX2-5 EP300 CITED2
47 negative regulation of transcription by RNA polymerase II GO:0000122 10.06 TFAP2B TFAP2A NKX2-5 EP300 CITED2 BMP4
48 negative regulation of apoptotic process GO:0043066 10.05 TFAP2B TFAP2A NKX2-5 CITED2 BMP4
49 negative regulation of transcription, DNA-templated GO:0045892 10.05 TFAP2B TFAP2A NKX2-5 CITED2 BMP4
50 positive regulation of transcription by RNA polymerase II GO:0045944 10.04 TFAP2B TFAP2A TBX5 NKX2-5 EP300 CITED2

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 TFAP2B TFAP2A TBX5 NKX2-5 CITED2
2 transcription coactivator activity GO:0003713 9.56 TFAP2B TFAP2A EP300 CITED2
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.54 TBX5 NKX2-5 EP300
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.35 TFAP2B TFAP2A TBX5 NKX2-5 EP300
5 SMAD binding GO:0046332 9.33 TGFBR2 COL3A1 CITED2
6 chromatin binding GO:0003682 9.02 TFAP2B TFAP2A NKX2-5 EP300 CITED2

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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