CHAR
MCID: CHR101
MIFTS: 52

Char Syndrome (CHAR)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Char Syndrome

MalaCards integrated aliases for Char Syndrome:

Name: Char Syndrome 57 12 73 25 20 43 58 72 36 29 13 54 6 44 15 39 70
Patent Ductus Arteriosus with Facial Dysmorphism and Abnormal Fifth Digits 57 20 43 58
Char 57 20 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
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:

25
Penetrance The penetrance of char syndrome has not been formally determined. two asymptomatic individuals with tfap2b pathogenic variants have been described [mani et al 2005, timberlake et al 2019].

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060563
OMIM® 57 169100
KEGG 36 H00555
MESH via Orphanet 45 C538076
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C1868570
Orphanet 58 ORPHA46627
MedGen 41 C1868570
UMLS 70 C1868570

Summaries for Char Syndrome

MedlinePlus Genetics : 43 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 Fluorodeoxyglucose F18 and Radiopharmaceuticals have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and bone, and related phenotypes are ptosis and depressed nasal bridge

Disease Ontology : 12 A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.

GARD : 20 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 : 72 Char syndrome: An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

Wikipedia : 73 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 36)
# Related Disease Score Top Affiliating Genes
1 patent ductus arteriosus 1 30.7 TFAP2D TFAP2B TFAP2A TBX5 TBX20 MYH11
2 patent foramen ovale 29.5 TFAP2B TBX5 TBX20 CRELD1 CITED2
3 hypocalciuric hypercalcemia, familial, type iii 10.2 TFAP2A AP2B1
4 mechanical strabismus 10.2
5 strabismus 10.2
6 hypoplastic right heart syndrome 10.2 TBX5 TBX20
7 hermansky-pudlak syndrome 4 10.2 TFAP2B TBX20
8 total anomalous pulmonary venous return 1 10.1 TBX5 CRELD1
9 tricuspid atresia 10.1 TBX5 TBX20
10 atrial septal defect 8 10.1 CRELD1 CITED2
11 tricuspid valve disease 10.1 TBX5 TBX20
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
13 polydactyly 10.1
14 hypertelorism 10.1
15 right atrial isomerism 10.0 TBX5 TBX20 CITED2
16 interatrial communication 10.0 TBX5 TBX20 CITED2
17 mitral valve insufficiency 10.0 TBX5 MYH11
18 dextro-looped transposition of the great arteries 10.0 TBX5 CRELD1
19 atrioventricular septal defect 10.0 TBX5 TBX20 CRELD1
20 hypoplastic left heart syndrome 10.0 TBX5 TBX20 CRELD1
21 pulmonary valve stenosis 10.0 TBX5 TBX20
22 exencephaly 10.0 TFAP2C TFAP2B TFAP2A CITED2
23 scoliosis 9.9
24 ptosis 9.9
25 sensorineural hearing loss 9.9
26 myopia 9.9
27 craniosynostosis 9.9
28 diabetes insipidus 9.9
29 scalp-ear-nipple syndrome 9.9
30 holt-oram syndrome 9.9 TFAP2B TBX5 TBX20 CRELD1
31 ebstein anomaly 9.9 TBX5 TBX20
32 heart septal defect 9.9 TBX5 TBX20 CRELD1 CITED2
33 atrial heart septal defect 9.8 TFAP2B TBX5 TBX20 CRELD1 CITED2
34 double outlet right ventricle 9.7 TFAP2A TBX5 TBX20 CRELD1 CITED2
35 tetralogy of fallot 9.5 TFAP2B TBX5 TBX20 MYH11 CRELD1 CITED2
36 branchiooculofacial syndrome 9.3 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A KCTD1

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 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 thick vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0012471
5 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
6 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
7 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
8 patent ductus arteriosus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001643
9 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
10 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
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 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
19 prominent occiput 58 31 occasional (7.5%) Occasional (29-5%) HP:0000269
20 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
21 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
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 thick eyebrow 31 HP:0000574
29 intellectual disability, mild 31 HP:0001256
30 low-set ears 31 HP:0000369
31 highly arched eyebrow 31 HP:0002553
32 protruding ear 31 HP:0000411
33 hand polydactyly 58 Occasional (29-5%)
34 broad forehead 31 HP:0000337
35 broad nasal tip 31 HP:0000455
36 distal/middle symphalangism of 5th finger 31 HP:0009244
37 parasomnia 31 HP:0025234

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
hypertelorism
strabismus
thick, flared eyebrows

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Nose:
broad nasal tip

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 Face:
short philtrum
broad forehead

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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Char Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 CITED2 CRELD1 EPAS1 KCTD1 MYH11 TBX20
2 mortality/aging MP:0010768 9.9 CITED2 CRELD1 EPAS1 KCNA2 KCTD1 MYH11
3 nervous system MP:0003631 9.65 CITED2 CRELD1 EPAS1 KCNA2 TAFA2 TBX20
4 respiratory system MP:0005388 9.1 CITED2 EPAS1 KCNA2 MYH11 TFAP2A TFAP2B

Drugs & Therapeutics for Char Syndrome

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fluorodeoxyglucose F18 Phase 2
2 Radiopharmaceuticals Phase 2
3 Liver Extracts Phase 2
4
Chlorhexidine Approved, Vet_approved 55-56-1 9552079 2713
5
Lidocaine Approved, Vet_approved 137-58-6 3676
6
Trichostatin A Experimental 58880-19-6
7 Anti-Infective Agents
8 Antiviral Agents
9 Anti-Retroviral Agents
10 Anesthetics
11 Chlorhexidine gluconate
12 Anesthetics, Local
13 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Double Blind, Randomized Controlled Prospective Trial of Endo-biliary Radio-frequency Ablation for Maintenance of Metal Stent Patency in Patients With Malignant Obstructive Jaundice Unknown status NCT01275768 Phase 1, Phase 2
2 The Use of Radiofrequency Ablation to Treat Hepatic Neoplasms Terminated NCT00019604 Phase 2
3 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
4 A Novel Technique for the Removal of Pterygiums Unknown status NCT02321150
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 Scalpel Versus Laser Gingivectomy in the Management of Periodontal Health During Orthodontic Treatment: a Randomized Controlled Clinical Trial Completed NCT03514316
7 The Surgical and Economic Effect of the Aquamantys System in Blood Management During and Following Aseptic and Septic Revision TKA Completed NCT02266407
8 A Pilot Study of Longitudinal Geriatric and Neurocognitive Evaluations for Older Lymphoma Patients Receiving CART Therapy Recruiting NCT04300998
9 A Prospective, Randomized, Single-blinded, Non-inferiority Study to Evaluate the Safety and Efficacy of the Saline-coupled Bipolar Sealer Compared to the Unipolar Electrocautery in Primary Unilateral Total Knee Arthroplasty Recruiting NCT03952546
10 The Role of Endoscopic Ultrasound Radiofrequency Ablation (EUS RFA) in the Management of Not Resectable Pancreatic Cancer. Not yet recruiting NCT04164992

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, Eye, Bone, Liver

Publications for Char Syndrome

Articles related to Char Syndrome:

(show all 37)
# Title Authors PMID Year
1
Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. 54 61 25 6 57
11505339 2001
2
Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. 25 6 57 61
15684060 2005
3
Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype. 25 57 6 61
10955477 2000
4
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. 57 25 6 61
10802654 2000
5
Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21. 61 6 57 25
10368122 1999
6
Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B. 25 6 61
21643846 2011
7
Char syndrome: an additional family with polythelia, a new finding. 57 25 61
11102923 2000
8
Familial patent ductus arteriosus: a further case of CHAR syndrome. 25 57 61
9217229 1997
9
Familial occurrence of patent ductus arteriosus. 6 57
7645594 1995
10
A large family with patent ductus arteriosus and unusual face. 6 57
8326495 1993
11
Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies). 61 57
1342853 1992
12
Char Syndrome a novel mutation and new insights: A clinical report. 25 61
30579973 2019
13
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. 25 61
31012281 2019
14
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 6
29555671 2018
15
Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hypoplasia [corrected] of the 3rd finger. 25 61
22728731 2012
16
Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus. 25 61
18752453 2008
17
Further delineation of Char syndrome. 25 61
10703243 2000
18
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. 25
31292255 2019
19
Timing, rates and spectra of human germline mutation. 25
26656846 2016
20
Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus. 25
12409608 2002
21
Regulatory roles of AP-2 transcription factors in vertebrate development, apoptosis and cell-cycle control. 61 54
11137286 2000
22
Heart-hand syndrome II. A report of Tabatznik syndrome with new findings. 25
1976459 1990
23
Transcription factor AP-2beta in development, differentiation and tumorigenesis. 61
33720400 2021
24
KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling. 61
33000225 2020
25
A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics. 61
29683802 2018
26
Tfap2b mutation in mice results in patent ductus arteriosus and renal malformation. 61
29804851 2018
27
TFAP2B mutation and dental anomalies. 61
28381879 2017
28
The AP-2 Transcription Factor APTF-2 Is Required for Neuroblast and Epidermal Morphogenesis in Caenorhabditis elegans Embryogenesis. 61
27176626 2016
29
AP-2β is a transcriptional regulator for determination of digit length in tetrapods. 61
26277217 2015
30
Characterization of transcription factor AP-2 β mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency. 61
24507797 2014
31
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
32
Insights into the pathogenesis and genetic background of patency of the ductus arteriosus. 61
19955832 2010
33
Patent arterial duct. 61
19591690 2009
34
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. 61
14722581 2004
35
Char Syndrome 61
20301285 2003
36
Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus. 61
11376442 2000
37
Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome. 61
10533032 1999

Variations for Char Syndrome

ClinVar genetic disease variations for Char Syndrome:

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TFAP2B NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp) SNV Pathogenic 8039 rs80338914 GRCh37: 6:50805690-50805690
GRCh38: 6:50837977-50837977
2 TFAP2B NM_003221.4(TFAP2B):c.898C>T (p.Arg300Cys) SNV Pathogenic 8040 rs80338917 GRCh37: 6:50805764-50805764
GRCh38: 6:50838051-50838051
3 TFAP2B NM_003221.4(TFAP2B):c.706C>T (p.Arg236Cys) SNV Pathogenic 8041 rs80338912 GRCh37: 6:50803878-50803878
GRCh38: 6:50836165-50836165
4 TFAP2B NM_003221.4(TFAP2B):c.706C>A (p.Arg236Ser) SNV Pathogenic 8042 rs80338912 GRCh37: 6:50803878-50803878
GRCh38: 6:50836165-50836165
5 TFAP2B NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln) SNV Pathogenic 8043 rs80338915 GRCh37: 6:50805720-50805720
GRCh38: 6:50838007-50838007
6 TFAP2B NM_003221.4(TFAP2B):c.218C>G (p.Pro73Arg) SNV Pathogenic 8044 rs80338910 GRCh37: 6:50791256-50791256
GRCh38: 6:50823543-50823543
7 TFAP2B NM_003221.4(TFAP2B):c.601+5G>A SNV Pathogenic 21359 rs80338911 GRCh37: 6:50796397-50796397
GRCh38: 6:50828684-50828684
8 TFAP2B NM_003221.4(TFAP2B):c.822-1G>C SNV Pathogenic 21361 rs80338916 GRCh37: 6:50805687-50805687
GRCh38: 6:50837974-50837974
9 TFAP2B NM_003221.4(TFAP2B):c.650del (p.Gly217fs) Deletion Pathogenic 599040 rs1561964103 GRCh37: 6:50803821-50803821
GRCh38: 6:50836108-50836108
10 TFAP2B NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met) SNV Likely pathogenic 599234 rs1232197674 GRCh37: 6:50805783-50805783
GRCh38: 6:50838070-50838070
11 TFAP2B NM_003221.4(TFAP2B):c.*912_*913CA[6] Microsatellite Conflicting interpretations of pathogenicity 357303 rs35649205 GRCh37: 6:50812016-50812017
GRCh38: 6:50844303-50844304
12 TFAP2B NM_003221.4(TFAP2B):c.*135_*136del Deletion Uncertain significance 357289 rs140657288 GRCh37: 6:50811238-50811239
GRCh38: 6:50843525-50843526
13 TFAP2B NM_003221.4(TFAP2B):c.*1427del Deletion Uncertain significance 357313 rs886061580 GRCh37: 6:50812530-50812530
GRCh38: 6:50844817-50844817
14 TFAP2B NM_003221.4(TFAP2B):c.*910_*911insC Insertion Uncertain significance 357302 rs1554165384 GRCh37: 6:50812015-50812016
GRCh38: 6:50844302-50844303
15 TFAP2B NM_003221.4(TFAP2B):c.*912_*916del Deletion Uncertain significance 357305 rs886061577 GRCh37: 6:50812017-50812021
GRCh38: 6:50844304-50844308
16 TFAP2B NM_003221.4(TFAP2B):c.540+7ACAA[7] Microsatellite Uncertain significance 357277 rs368226832 GRCh37: 6:50791584-50791585
GRCh38: 6:50823871-50823872
17 TFAP2B NM_003221.4(TFAP2B):c.*911_*915del Deletion Uncertain significance 357300 rs770818655 GRCh37: 6:50812015-50812019
GRCh38: 6:50844302-50844306
18 TFAP2B NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp) SNV Uncertain significance 374174 rs1057518947 GRCh37: 6:50805696-50805696
GRCh38: 6:50837983-50837983
19 TFAP2B NM_003221.4(TFAP2B):c.1105G>C (p.Asp369His) SNV Uncertain significance 1028094 GRCh37: 6:50810827-50810827
GRCh38: 6:50843114-50843114
20 TFAP2B NM_003221.4(TFAP2B):c.*911del Deletion Uncertain significance 357298 rs35732696 GRCh37: 6:50812004-50812004
GRCh38: 6:50844291-50844291
21 TFAP2B NM_003221.4(TFAP2B):c.*912_*913CA[8] Microsatellite Uncertain significance 357301 rs35649205 GRCh37: 6:50812015-50812016
GRCh38: 6:50844302-50844303
22 TFAP2B NM_003221.4(TFAP2B):c.*1644del Deletion Uncertain significance 357314 rs886061581 GRCh37: 6:50812748-50812748
GRCh38: 6:50845035-50845035
23 TFAP2B NM_003221.4(TFAP2B):c.*912_*913CA[5] Microsatellite Uncertain significance 357304 rs35649205 GRCh37: 6:50812016-50812019
GRCh38: 6:50844303-50844306
24 TFAP2B NM_003221.4(TFAP2B):c.*910_*911del Deletion Uncertain significance 357299 rs35732696 GRCh37: 6:50812004-50812005
GRCh38: 6:50844291-50844292
25 TFAP2B NM_003221.4(TFAP2B):c.*15_*17AAG[1] Microsatellite Likely benign 357287 rs140328017 GRCh37: 6:50811120-50811122
GRCh38: 6:50843407-50843409
26 TFAP2B NM_003221.4(TFAP2B):c.*4213_*4214GT[1] Microsatellite Likely benign 357354 rs373428030 GRCh37: 6:50815317-50815318
GRCh38: 6:50847604-50847605
27 TFAP2B NM_003221.4(TFAP2B):c.*1938dup Duplication Likely benign 357322 rs568007912 GRCh37: 6:50813038-50813039
GRCh38: 6:50845325-50845326
28 TFAP2B NM_003221.4(TFAP2B):c.772T>G (p.Ser258Ala) SNV Benign 21360 rs2817394 GRCh37: 6:50803944-50803944
GRCh38: 6:50836231-50836231
29 TFAP2B NM_003221.4(TFAP2B):c.444C>A (p.Asp148Glu) SNV Benign 21358 rs13216733 GRCh37: 6:50791482-50791482
GRCh38: 6:50823769-50823769
30 TFAP2B NM_003221.3(TFAP2B):c.*4228G>T SNV Benign 369566 rs67092917 GRCh37: 6:50815333-50815333
GRCh38: 6:50847620-50847620

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

72
# 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 chromatin GO:0000785 9.28 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A TBX5

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.06 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A TBX5
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.95 TFAP2C TFAP2B TFAP2A TBX20 KCTD1 CITED2
3 positive regulation of transcription, DNA-templated GO:0045893 9.93 TFAP2D TFAP2B TFAP2A TBX5 TBX20 CITED2
4 negative regulation of transcription, DNA-templated GO:0045892 9.91 TFAP2B TFAP2A TBX20 KCTD1 CITED2
5 regulation of transcription, DNA-templated GO:0006355 9.91 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A TBX5
6 regulation of cell proliferation GO:0042127 9.77 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A
7 kidney development GO:0001822 9.71 TFAP2B TFAP2A AP2B1
8 ventricular septum development GO:0003281 9.61 TBX5 CITED2 AP2B1
9 positive regulation of transcription by RNA polymerase II GO:0045944 9.61 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A TBX5
10 positive regulation of cardiac muscle cell proliferation GO:0060045 9.6 TBX5 TBX20
11 cell fate specification GO:0001708 9.59 TBX5 TBX20
12 bone morphogenesis GO:0060349 9.58 TFAP2A CITED2
13 embryonic forelimb morphogenesis GO:0035115 9.58 TFAP2A TBX5
14 retina layer formation GO:0010842 9.57 TFAP2B TFAP2A
15 negative regulation of cardiac muscle cell proliferation GO:0060044 9.56 TBX5 CITED2
16 embryonic placenta development GO:0001892 9.55 EPAS1 CITED2
17 atrial septum morphogenesis GO:0060413 9.52 TBX5 TBX20
18 cardiac septum development GO:0003279 9.5 TBX20 CRELD1 AP2B1
19 forelimb morphogenesis GO:0035136 9.49 TFAP2B TBX5
20 endocardial cushion development GO:0003197 9.33 TBX5 CRELD1 CITED2
21 anatomical structure development GO:0048856 9.02 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A

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 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A TBX5
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.87 TFAP2E TFAP2C TFAP2B TFAP2A TBX5 TBX20
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.86 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A TBX5
4 sequence-specific double-stranded DNA binding GO:1990837 9.77 TFAP2E TFAP2C TFAP2B TFAP2A TBX20
5 sequence-specific DNA binding GO:0043565 9.76 TFAP2B TFAP2A TBX5 EPAS1
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.7 TFAP2E TFAP2C TFAP2B TFAP2A TBX5 TBX20
7 DNA-binding transcription factor activity GO:0003700 9.56 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A TBX5
8 histone acetyltransferase binding GO:0035035 9.43 EPAS1 CITED2
9 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.23 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A TBX5

Sources for Char Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....