CHARGES
MCID: CHR103
MIFTS: 61

Charge Syndrome (CHARGES)

Categories: Ear diseases, Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Charge Syndrome

MalaCards integrated aliases for Charge Syndrome:

Name: Charge Syndrome 58 12 77 25 54 26 76 38 13 45 15 41 74
Charge Association 12 54 26 30 6
Hall-Hittner Syndrome 58 54 26
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies 58
Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies 54
Hall-Hittner Syndrome; Hhs 58
Charges 76
Hhs 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype, even within families
many cases are sporadic, but somatic and germline mosaicism has been reported
charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities)
incidence ranges from 1 in 8,500 to 1 in 12,000 births


HPO:

33
charge syndrome:
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

25
Penetrance To date, penetrance in those with chd7 pathogenic variants is 100%: all individuals who are heterozygous for a chd7 pathogenic variant have some features of charge syndrome...

Classifications:



Summaries for Charge Syndrome

NIH Rare Diseases : 54 CHARGE syndrome is a congenital condition (present from birth) that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), restricted growth and development, genital abnormality, and ear abnormality. Signs and symptoms vary among people with this condition; however, infants often have multiple life-threatening medical conditions. The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics. In more than half of all cases, mutations in the CHD7 gene cause CHARGE syndrome. When caused by a mutation in the CHD7 gene, it can be inherited in an autosomal dominant pattern; although most cases result from new (de novo) mutations in the gene and occur in people with no history of the condition in their family. Although there is no specific treatment or cure, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person.

MalaCards based summary : Charge Syndrome, also known as charge association, is related to hypogonadotropic hypogonadism 7 with or without anosmia and choanal atresia, posterior. An important gene associated with Charge Syndrome is CHD7 (Chromodomain Helicase DNA Binding Protein 7), and among its related pathways/superpathways are Neural Crest Differentiation and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include heart, retina and bone, and related phenotypes are hearing impairment and global developmental delay

Disease Ontology : 12 A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.

Genetics Home Reference : 26 CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities. The pattern of malformations varies among individuals with this disorder, and the multiple health problems can be life-threatening in infancy. Affected individuals usually have several major characteristics or a combination of major and minor characteristics.

OMIM : 58 CHARGE syndrome is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina (summary by Kallen et al., 1999). (214800)

UniProtKB/Swiss-Prot : 76 CHARGE syndrome: Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.

Wikipedia : 77 CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder.... more...

GeneReviews: NBK1117

Related Diseases for Charge Syndrome

Diseases related to Charge Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 541)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 32.7 FGFR1 SEMA3E
2 choanal atresia, posterior 29.9 CHD7 FOXE1
3 cryptorchidism, unilateral or bilateral 29.2 ANOS1 FGFR1 PROK2 PROKR2
4 hypogonadism 29.1 ANOS1 CHD7 FGF8 FGFR1 PROK2 PROKR2
5 hypogonadotropic hypogonadism 29.0 ANOS1 CHD7 FGF8 FGFR1 PROK2 PROKR2
6 kallmann syndrome 28.5 ANOS1 CHD7 FGF8 FGFR1 PAX2 PROK2
7 hypotrichosis 1 11.9
8 tumoral calcinosis, hyperphosphatemic, familial, 1 11.9
9 abruzzo-erickson syndrome 11.8
10 hemochromatosis, type 1 11.8
11 dyskeratosis congenita, x-linked 11.7
12 heart-hand syndrome, slovenian type 11.6
13 hypothalamic hamartomas 11.2
14 gitelman syndrome 11.2
15 tibial hemimelia 11.1
16 8q12 microduplication syndrome 11.1
17 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 11.1
18 dyskeratosis congenita, autosomal dominant 1 11.1
19 hypogonadotropic hypogonadism 2 with or without anosmia 11.1
20 dyskeratosis congenita, autosomal recessive 5 11.1
21 hyperinsulinemic hypoglycemia, familial, 6 11.1
22 hypotrichosis simplex 11.1
23 antiphospholipid syndrome, familial 11.0
24 ocular dominance 11.0
25 familial periodic paralysis 11.0
26 laryngeal cleft 11.0
27 hypogonadotropic hypogonadism 3 with or without anosmia 10.9
28 hypogonadotropic hypogonadism 4 with or without anosmia 10.9
29 hypogonadotropic hypogonadism 6 with or without anosmia 10.9
30 hypogonadotropic hypogonadism 8 with or without anosmia 10.9
31 hypogonadotropic hypogonadism 9 with or without anosmia 10.9
32 hypogonadotropic hypogonadism 10 with or without anosmia 10.9
33 hypogonadotropic hypogonadism 11 with or without anosmia 10.9
34 hypogonadotropic hypogonadism 12 with or without anosmia 10.9
35 hypogonadotropic hypogonadism 13 with or without anosmia 10.9
36 hypogonadotropic hypogonadism 14 with or without anosmia 10.9
37 hypogonadotropic hypogonadism 15 with or without anosmia 10.9
38 hypogonadotropic hypogonadism 16 with or without anosmia 10.9
39 hypogonadotropic hypogonadism 17 with or without anosmia 10.9
40 hypogonadotropic hypogonadism 18 with or without anosmia 10.9
41 hypogonadotropic hypogonadism 19 with or without anosmia 10.9
42 hypogonadotropic hypogonadism 20 with or without anosmia 10.9
43 hypogonadotropic hypogonadism 21 with or without anosmia 10.9
44 hypogonadotropic hypogonadism 22 with or without anosmia 10.9
45 tumoral calcinosis, hyperphosphatemic, familial, 2 10.9
46 tumoral calcinosis, hyperphosphatemic, familial, 3 10.9
47 triiodothyronine receptor auxiliary protein 10.5
48 isolated optic neuritis 10.4
49 pallister-hall syndrome 10.4
50 tinea favosa 10.3 CHD7 FOXE1

Graphical network of the top 20 diseases related to Charge Syndrome:



Diseases related to Charge Syndrome

Symptoms & Phenotypes for Charge Syndrome

Human phenotypes related to Charge Syndrome:

33 (show top 50) (show all 122)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 hallmark (90%) HP:0000365
2 global developmental delay 33 hallmark (90%) HP:0001263
3 feeding difficulties in infancy 33 hallmark (90%) HP:0008872
4 delayed puberty 33 hallmark (90%) HP:0000823
5 cryptorchidism 33 hallmark (90%) HP:0000028
6 external ear malformation 33 hallmark (90%) HP:0008572
7 hypogonadotrophic hypogonadism 33 hallmark (90%) HP:0000044
8 overfolded helix 33 hallmark (90%) HP:0000396
9 iris coloboma 33 very rare (1%) HP:0000612
10 micropenis 33 hallmark (90%) HP:0000054
11 anosmia 33 hallmark (90%) HP:0000458
12 aplasia/hypoplasia of the earlobes 33 hallmark (90%) HP:0009906
13 hypoplasia of the semicircular canal 33 hallmark (90%) HP:0011382
14 ptosis 33 frequent (33%) HP:0000508
15 nystagmus 33 frequent (33%) HP:0000639
16 intellectual disability 33 very rare (1%) HP:0001249
17 muscular hypotonia 33 frequent (33%) HP:0001252
18 facial palsy 33 very rare (1%) HP:0010628
19 depressed nasal bridge 33 frequent (33%) HP:0005280
20 optic atrophy 33 frequent (33%) HP:0000648
21 short stature 33 frequent (33%) HP:0004322
22 gastroesophageal reflux 33 frequent (33%) HP:0002020
23 cleft palate 33 frequent (33%) HP:0000175
24 strabismus 33 frequent (33%) HP:0000486
25 delayed eruption of teeth 33 frequent (33%) HP:0000684
26 patent ductus arteriosus 33 frequent (33%) HP:0001643
27 autism 33 frequent (33%) HP:0000717
28 attention deficit hyperactivity disorder 33 frequent (33%) HP:0007018
29 postnatal growth retardation 33 frequent (33%) HP:0008897
30 anterior hypopituitarism 33 frequent (33%) HP:0000830
31 chorioretinal coloboma 33 frequent (33%) HP:0000567
32 microphthalmia 33 frequent (33%) HP:0000568
33 low-set, posteriorly rotated ears 33 frequent (33%) HP:0000368
34 narrow face 33 frequent (33%) HP:0000275
35 narrow mouth 33 frequent (33%) HP:0000160
36 polyhydramnios 33 frequent (33%) HP:0001561
37 tetralogy of fallot 33 frequent (33%) HP:0001636
38 choanal atresia 33 very rare (1%) HP:0000453
39 obsessive-compulsive behavior 33 frequent (33%) HP:0000722
40 bifid scrotum 33 frequent (33%) HP:0000048
41 facial asymmetry 33 very rare (1%) HP:0000324
42 cleft upper lip 33 frequent (33%) HP:0000204
43 anophthalmia 33 frequent (33%) HP:0000528
44 abnormality of female internal genitalia 33 frequent (33%) HP:0000008
45 interrupted aortic arch 33 frequent (33%) HP:0011611
46 labial hypoplasia 33 frequent (33%) HP:0000066
47 abnormal cardiac septum morphology 33 frequent (33%) HP:0001671
48 aortic arch aneurysm 33 frequent (33%) HP:0005113
49 dimple chin 33 frequent (33%) HP:0010751
50 abnormal aortic valve morphology 33 frequent (33%) HP:0001646

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
malar flattening
micrognathia
facial asymmetry
square face

Endocrine Features:
hypothyroidism
growth hormone deficiency
parathyroid hypoplasia
gonadotropin deficiency

Abdomen External Features:
umbilical hernia
omphalocele

Head And Neck Mouth:
cleft palate
cleft lip

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary Kidneys:
horseshoe kidney
hydronephrosis

Immunology:
lymphopenia
thymic hypoplasia or aplasia
t cell defect, mild to severe
humoral defect (in some)

Laboratory Abnormalities:
hypocalcemia

Head And Neck Nose:
anosmia
posterior choanal atresia (membranous and/or bony)

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Genitourinary External Genitalia Female:
hypoplastic labia

Skeletal Limbs:
monodactyly (some)
ulnar hypoplasia (some)
tibial aplasia (some)
bifid femur (some)
radial aplasia (reported in 1 patient)

Head And Neck Eyes:
hypertelorism
ptosis
microphthalmia
anophthalmia
downslanting palpebral fissures
more
Neurologic Peripheral Nervous System:
dysphagia
facial palsy
cranial nerve anomalies

Head And Neck Head:
microcephaly

Cardiovascular Vascular:
patent ductus arteriosus

Growth Other:
postnatal growth retardation

Cardiovascular Heart:
atrial septal defect
tetralogy of fallot
ventricular septal defect
pulmonary valve stenosis
double-outlet right ventricle

Abdomen Gastrointestinal:
anal atresia
tracheoesophageal fistula
esophageal atresia
anal stenosis
duodenal atresia
more
Genitourinary External Genitalia Male:
micropenis

Head And Neck Ears:
small ears
cup-shaped ears
lop ears
deafness (sensorineural or mixed sensorineural and conductive)
mondini defect
more
Chest Ribs Sternum Clavicles And Scapulae:
rib anomalies

Genitourinary:
delayed pubertal development

Neurologic Central Nervous System:
mental retardation, variable severity
intellectual function may be high in milder cases
balance disturbances

Clinical features from OMIM:

214800

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

27 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.53 CHD8
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.53 CHD8
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.53 CHD8
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.53 FGF8
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.53 CHD8
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.53 FGF8
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.53 CHD8 FGF8 PROKR2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.53 FGF8
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.53 FGF8
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.53 CHD8
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.53 PROKR2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.53 PROKR2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.53 PROKR2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.53 PROKR2

MGI Mouse Phenotypes related to Charge Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.16 CHD7 CHD8 FGF8 FGFR1 GBX2 PAX2
2 cardiovascular system MP:0005385 10.13 CHD7 FGF8 FGFR1 GBX2 PAX2 SEMA3A
3 embryo MP:0005380 9.97 CHD7 CHD8 FGF8 FGFR1 GBX2 PAX2
4 growth/size/body region MP:0005378 9.96 CHD7 CHD8 FGF8 FGFR1 FOXE1 GBX2
5 digestive/alimentary MP:0005381 9.95 CHD7 CHD8 FGF8 FGFR1 FOXE1 GBX2
6 endocrine/exocrine gland MP:0005379 9.92 CHD7 FGF8 FGFR1 FOXE1 GBX2 PAX2
7 craniofacial MP:0005382 9.91 CHD7 FGF8 FGFR1 FOXE1 GBX2 SOX11
8 nervous system MP:0003631 9.73 CHD7 CHD8 FGF8 FGFR1 GBX2 PAX2
9 hearing/vestibular/ear MP:0005377 9.55 CHD7 FGF8 FGFR1 GBX2 PAX2
10 vision/eye MP:0005391 9.17 CHD7 FGF8 FGFR1 GBX2 PAX2 SEMA3E

Drugs & Therapeutics for Charge Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Study of CHARGE Syndrom Completed NCT03186144 Not Applicable

Search NIH Clinical Center for Charge Syndrome

Cochrane evidence based reviews: charge syndrome

Genetic Tests for Charge Syndrome

Genetic tests related to Charge Syndrome:

# Genetic test Affiliating Genes
1 Charge Association 30 CHD7 SEMA3E

Anatomical Context for Charge Syndrome

MalaCards organs/tissues related to Charge Syndrome:

42
Heart, Retina, Bone, Eye, T Cells, Kidney, Lung

Publications for Charge Syndrome

Articles related to Charge Syndrome:

(show top 50) (show all 435)
# Title Authors Year
1
Effect of Long-Term Domiciliary High-Flow Nasal Cannula Use in a Child with Atypical CHARGE Syndrome. ( 30049555 )
2019
2
Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes. ( 30205741 )
2019
3
Identifying pain in children with CHARGE syndrome. ( 30226210 )
2019
4
Multiple muscular abnormalities in a fetal cadaver with CHARGE syndrome. ( 30465074 )
2019
5
A unique case of CHARGE syndrome with craniosynostosis. ( 30498854 )
2019
6
Relative Preservation of Superior Semicircular Canal Architecture in CHARGE Syndrome. ( 30667318 )
2019
7
Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals. ( 30715739 )
2019
8
Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia. ( 31037873 )
2019
9
De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome. ( 31043788 )
2019
10
Chemical screens in a zebrafish model of CHARGE syndrome identifies small molecules that ameliorates disease like phenotypes in embryo. ( 31051269 )
2019
11
A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism. ( 31060112 )
2019
12
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. ( 29144511 )
2018
13
Atopic disorders in CHARGE syndrome: A retrospective study and literature review. ( 29191495 )
2018
14
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. ( 29255276 )
2018
15
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. ( 29300383 )
2018
16
Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome. ( 29311329 )
2018
17
A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy. ( 29355723 )
2018
18
Sema3a plays a role in the pathogenesis of CHARGE syndrome. ( 29432577 )
2018
19
Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome. ( 29434620 )
2018
20
Cleft Lip and Palate in CHARGE Syndrome: Phenotypic Features That Influence Management. ( 29437513 )
2018
21
An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome. ( 29531775 )
2018
22
An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome. ( 29615807 )
2018
23
Clival Malformations in CHARGE Syndrome. ( 29622552 )
2018
24
Etiology and functional validation of gastrointestinal motility dysfunction in a zebrafish model of CHARGE syndrome. ( 29660852 )
2018
25
Cochlear implantation in children with CHARGE syndrome: a report of eight cases. ( 29971494 )
2018
26
Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis. ( 29979396 )
2018
27
CHARGE Syndrome with High Bifurcation of the Abdominal Aorta and a Horseshoe Kidney: A Case Report. ( 30146198 )
2018
28
A neonate with marked prolonged mixed apneas and CHARGE syndrome: a case report. ( 30176936 )
2018
29
Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study. ( 30237300 )
2018
30
ALS and CHARGE syndrome: a clinical and genetic study. ( 30317490 )
2018
31
Phenotypic spectrum of CHARGE syndrome based on clinical characteristics ( 30384553 )
2018
32
Role of electrostatic correlations in polyelectrolyte charge association. ( 30384694 )
2018
33
Congenital Glaucoma and CHARGE Syndrome: A Case Report. ( 27661987 )
2017
34
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. ( 27832265 )
2017
35
Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome. ( 27875026 )
2017
36
Oral features and computerized rehabilitation of a young patient with CHARGE syndrome using minimally invasive long-term interim CAD-CAM restorations. ( 27881329 )
2017
37
CHARGE Syndrome. ( 28044040 )
2017
38
Coronal clival cleft in CHARGE syndrome. ( 28059674 )
2017
39
CHARGE syndrome gastrointestinal involvement: from mouth to anus. ( 28155231 )
2017
40
Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). ( 28160409 )
2017
41
Support for the Diagnosis of CHARGE Syndrome-Reply. ( 28241177 )
2017
42
Support for the Diagnosis of CHARGE Syndrome. ( 28241200 )
2017
43
A Rare Case of Vascular Ring and Coarctation of the Aorta in Association with CHARGE Syndrome. ( 28461801 )
2017
44
Outcomes and Time to Emergence of Auditory Skills After Cochlear Implantation of Children With Charge Syndrome. ( 28657954 )
2017
45
Head and Neck MRI Findings in CHARGE Syndrome. ( 28705814 )
2017
46
The Modified Rambo Transcanal Approach for Cochlear Implantation in CHARGE Syndrome. ( 28777229 )
2017
47
Experiences in feeding and gastrointestinal dysfunction in children with CHARGE syndrome. ( 28940710 )
2017
48
Behavior in CHARGE syndrome. ( 29082623 )
2017
49
Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe. ( 29082627 )
2017
50
Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up. ( 29088501 )
2017

Variations for Charge Syndrome

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

76 (show all 33)
# Symbol AA change Variation ID SNP ID
1 CHD7 p.Ile1028Val VAR_021059 rs121434338
2 CHD7 p.Leu1257Arg VAR_021060 rs121434339
3 CHD7 p.Trp1031Gly VAR_033245
4 CHD7 p.Gln1214Arg VAR_033246
5 CHD7 p.Leu1294Pro VAR_033247 rs864309609
6 CHD7 p.Leu1815Pro VAR_033248
7 CHD7 p.His2096Arg VAR_033249 rs587783451
8 CHD7 p.Arg2319Ser VAR_033250 rs121434341
9 CHD7 p.Glu871Asp VAR_068117
10 CHD7 p.Leu1020Ser VAR_068124 rs105752107
11 CHD7 p.Gln1395His VAR_068129
12 CHD7 p.Gly1684Ser VAR_068134
13 CHD7 p.Leu1739Arg VAR_068135
14 CHD7 p.Gly1802Asp VAR_068137
15 CHD7 p.Arg2065Ser VAR_068141
16 CHD7 p.Gly2108Arg VAR_068144 rs121434343
17 CHD7 p.Ile2116Asn VAR_068145
18 CHD7 p.Arg2418Gly VAR_068150
19 CHD7 p.Trp840Cys VAR_068387
20 CHD7 p.Trp1031Arg VAR_068390
21 CHD7 p.Thr1082Asn VAR_068392
22 CHD7 p.Cys1101Arg VAR_068393
23 CHD7 p.Leu1292Pro VAR_068395
24 CHD7 p.Cys1318Arg VAR_068397
25 CHD7 p.Arg1345His VAR_068398
26 CHD7 p.Gly1797Val VAR_068403
27 CHD7 p.Asp1812Gly VAR_068404
28 CHD7 p.Asp1812His VAR_068405
29 CHD7 p.Trp2091Arg VAR_068409
30 CHD7 p.Gly2286Ala VAR_068415
31 CHD7 p.Leu1302Pro VAR_072961
32 CHD7 p.Val1742Asp VAR_072964
33 CHD7 p.Gly2108Trp VAR_078703

ClinVar genetic disease variations for Charge Syndrome:

6 (show top 50) (show all 958)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHD7 NM_017780.3(CHD7): c.3082A> G (p.Ile1028Val) single nucleotide variant Pathogenic rs121434338 GRCh37 Chromosome 8, 61735186: 61735186
2 CHD7 NM_017780.3(CHD7): c.3082A> G (p.Ile1028Val) single nucleotide variant Pathogenic rs121434338 GRCh38 Chromosome 8, 60822627: 60822627
3 CHD7 NM_017780.3(CHD7): c.3770T> G (p.Leu1257Arg) single nucleotide variant Pathogenic rs121434339 GRCh37 Chromosome 8, 61743128: 61743128
4 CHD7 NM_017780.3(CHD7): c.3770T> G (p.Leu1257Arg) single nucleotide variant Pathogenic rs121434339 GRCh38 Chromosome 8, 60830569: 60830569
5 CHD7 NM_017780.3(CHD7): c.5418C> G (p.Tyr1806Ter) single nucleotide variant Pathogenic rs121434340 GRCh37 Chromosome 8, 61763065: 61763065
6 CHD7 NM_017780.3(CHD7): c.5418C> G (p.Tyr1806Ter) single nucleotide variant Pathogenic rs121434340 GRCh38 Chromosome 8, 60850506: 60850506
7 CHD7 NM_017780.3(CHD7): c.6955C> A (p.Arg2319Ser) single nucleotide variant Pathogenic rs121434341 GRCh37 Chromosome 8, 61768552: 61768552
8 CHD7 NM_017780.3(CHD7): c.6955C> A (p.Arg2319Ser) single nucleotide variant Pathogenic rs121434341 GRCh38 Chromosome 8, 60855993: 60855993
9 CHD7 NM_017780.3(CHD7): c.3811G> T (p.Glu1271Ter) single nucleotide variant Pathogenic rs121434342 GRCh37 Chromosome 8, 61748664: 61748664
10 CHD7 NM_017780.3(CHD7): c.3811G> T (p.Glu1271Ter) single nucleotide variant Pathogenic rs121434342 GRCh38 Chromosome 8, 60836105: 60836105
11 CHD7 NM_017780.3(CHD7): c.5752dupA (p.Thr1918Asnfs) duplication Pathogenic rs786200873 GRCh38 Chromosome 8, 60852105: 60852105
12 CHD7 NM_017780.3(CHD7): c.5752dupA (p.Thr1918Asnfs) duplication Pathogenic rs786200873 GRCh37 Chromosome 8, 61764664: 61764664
13 CHD7 CHD7, DEL EXONS 8-12 deletion Pathogenic
14 CHD7 NM_017780.3(CHD7): c.6322G> A (p.Gly2108Arg) single nucleotide variant Pathogenic rs121434343 GRCh37 Chromosome 8, 61765606: 61765606
15 CHD7 NM_017780.3(CHD7): c.6322G> A (p.Gly2108Arg) single nucleotide variant Pathogenic rs121434343 GRCh38 Chromosome 8, 60853047: 60853047
16 CHD7 NM_017780.3(CHD7): c.2501C> T (p.Ser834Phe) single nucleotide variant Pathogenic rs121434344 GRCh37 Chromosome 8, 61728948: 61728948
17 CHD7 NM_017780.3(CHD7): c.2501C> T (p.Ser834Phe) single nucleotide variant Pathogenic rs121434344 GRCh38 Chromosome 8, 60816389: 60816389
18 CHD7 NM_017780.3(CHD7): c.2442+5G> C single nucleotide variant Pathogenic rs387906271 GRCh37 Chromosome 8, 61714157: 61714157
19 CHD7 NM_017780.3(CHD7): c.2442+5G> C single nucleotide variant Pathogenic rs387906271 GRCh38 Chromosome 8, 60801598: 60801598
20 CHD7 NM_017780.3(CHD7): c.8682_8683insT (p.Leu2895Serfs) insertion Pathogenic GRCh38 Chromosome 8, 60865621: 60865622
21 CHD7 NM_017780.3(CHD7): c.8682_8683insT (p.Leu2895Serfs) insertion Pathogenic GRCh37 Chromosome 8, 61778180: 61778181
22 CHD7 NM_017780.3(CHD7): c.4795C> T (p.Gln1599Ter) single nucleotide variant Pathogenic rs267606724 GRCh37 Chromosome 8, 61754556: 61754556
23 CHD7 NM_017780.3(CHD7): c.4795C> T (p.Gln1599Ter) single nucleotide variant Pathogenic rs267606724 GRCh38 Chromosome 8, 60841997: 60841997
24 SEMA3E NM_012431.3(SEMA3E): c.2108C> T (p.Ser703Leu) single nucleotide variant Pathogenic rs121918341 GRCh37 Chromosome 7, 82997122: 82997122
25 SEMA3E NM_012431.3(SEMA3E): c.2108C> T (p.Ser703Leu) single nucleotide variant Pathogenic rs121918341 GRCh38 Chromosome 7, 83367806: 83367806
26 CHD7 NM_017780.3(CHD7): c.1018A> G (p.Met340Val) single nucleotide variant Benign/Likely benign rs41305525 GRCh37 Chromosome 8, 61655009: 61655009
27 CHD7 NM_017780.3(CHD7): c.1018A> G (p.Met340Val) single nucleotide variant Benign/Likely benign rs41305525 GRCh38 Chromosome 8, 60742450: 60742450
28 CHD7 NM_017780.3(CHD7): c.1419G> C (p.Gly473=) single nucleotide variant Benign/Likely benign rs186394299 GRCh37 Chromosome 8, 61655410: 61655410
29 CHD7 NM_017780.3(CHD7): c.1419G> C (p.Gly473=) single nucleotide variant Benign/Likely benign rs186394299 GRCh38 Chromosome 8, 60742851: 60742851
30 CHD7 NM_017780.3(CHD7): c.2053_2058dupGCAAAA (p.Lys686_Thr687insAlaLys) duplication Benign/Likely benign rs377139749 GRCh37 Chromosome 8, 61693946: 61693951
31 CHD7 NM_017780.3(CHD7): c.2053_2058dupGCAAAA (p.Lys686_Thr687insAlaLys) duplication Benign/Likely benign rs377139749 GRCh38 Chromosome 8, 60781387: 60781392
32 CHD7 NM_017780.3(CHD7): c.2124T> C (p.Ser708=) single nucleotide variant Benign/Likely benign rs79302359 GRCh37 Chromosome 8, 61707572: 61707572
33 CHD7 NM_017780.3(CHD7): c.2124T> C (p.Ser708=) single nucleotide variant Benign/Likely benign rs79302359 GRCh38 Chromosome 8, 60795013: 60795013
34 CHD7 NM_017780.3(CHD7): c.216T> C (p.Tyr72=) single nucleotide variant Conflicting interpretations of pathogenicity rs16926453 GRCh37 Chromosome 8, 61654207: 61654207
35 CHD7 NM_017780.3(CHD7): c.216T> C (p.Tyr72=) single nucleotide variant Conflicting interpretations of pathogenicity rs16926453 GRCh38 Chromosome 8, 60741648: 60741648
36 CHD7 NM_017780.3(CHD7): c.2839C> T (p.Arg947Ter) single nucleotide variant Pathogenic rs200220845 GRCh37 Chromosome 8, 61734586: 61734586
37 CHD7 NM_017780.3(CHD7): c.2839C> T (p.Arg947Ter) single nucleotide variant Pathogenic rs200220845 GRCh38 Chromosome 8, 60822027: 60822027
38 CHD7 NM_017780.3(CHD7): c.307T> A (p.Ser103Thr) single nucleotide variant Benign/Likely benign rs41272435 GRCh37 Chromosome 8, 61654298: 61654298
39 CHD7 NM_017780.3(CHD7): c.307T> A (p.Ser103Thr) single nucleotide variant Benign/Likely benign rs41272435 GRCh38 Chromosome 8, 60741739: 60741739
40 CHD7 NM_017780.3(CHD7): c.309G> A (p.Ser103=) single nucleotide variant Benign/Likely benign rs115293759 GRCh37 Chromosome 8, 61654300: 61654300
41 CHD7 NM_017780.3(CHD7): c.309G> A (p.Ser103=) single nucleotide variant Benign/Likely benign rs115293759 GRCh38 Chromosome 8, 60741741: 60741741
42 CHD7 NM_017780.3(CHD7): c.3202-5T> C single nucleotide variant Benign rs147994149 GRCh37 Chromosome 8, 61736394: 61736394
43 CHD7 NM_017780.3(CHD7): c.3202-5T> C single nucleotide variant Benign rs147994149 GRCh38 Chromosome 8, 60823835: 60823835
44 CHD7 NM_017780.3(CHD7): c.3366G> C (p.Lys1122Asn) single nucleotide variant Uncertain significance rs41272440 GRCh37 Chromosome 8, 61736563: 61736563
45 CHD7 NM_017780.3(CHD7): c.3366G> C (p.Lys1122Asn) single nucleotide variant Uncertain significance rs41272440 GRCh38 Chromosome 8, 60824004: 60824004
46 CHD7 NM_017780.3(CHD7): c.3949C> T (p.Arg1317Cys) single nucleotide variant Uncertain significance rs373301291 GRCh37 Chromosome 8, 61748802: 61748802
47 CHD7 NM_017780.3(CHD7): c.3949C> T (p.Arg1317Cys) single nucleotide variant Uncertain significance rs373301291 GRCh38 Chromosome 8, 60836243: 60836243
48 CHD7 NM_017780.3(CHD7): c.4379_4380delTA (p.Ile1460Argfs) deletion Pathogenic rs398124319 GRCh37 Chromosome 8, 61750660: 61750661
49 CHD7 NM_017780.3(CHD7): c.4379_4380delTA (p.Ile1460Argfs) deletion Pathogenic rs398124319 GRCh38 Chromosome 8, 60838101: 60838102
50 CHD7 NM_017780.3(CHD7): c.4437G> A (p.Gly1479=) single nucleotide variant Conflicting interpretations of pathogenicity rs41265246 GRCh37 Chromosome 8, 61750718: 61750718

Copy number variations for Charge Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 241347 8 61753892 61942021 Deletion or duplicat ion CHD7 Charge syndrome

Expression for Charge Syndrome

Search GEO for disease gene expression data for Charge Syndrome.

Pathways for Charge Syndrome

Pathways related to Charge Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.14 FGF8 FGFR1 GBX2
2 10.7 FGF8 FGFR1 PAX2

GO Terms for Charge Syndrome

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.97 CHD8 FOXE1 PAX2 SMARCA1 SOX11
2 positive regulation of cell proliferation GO:0008284 9.91 FGF8 FGFR1 PAX2 PROK2 SOX11
3 chromatin organization GO:0006325 9.9 CHD6 CHD7 CHD8 SMARCA1
4 negative regulation of apoptotic process GO:0043066 9.86 CHD8 FGF8 PAX2 PROK2
5 skeletal system development GO:0001501 9.81 CHD7 FGFR1 SOX11
6 fibroblast growth factor receptor signaling pathway GO:0008543 9.65 ANOS1 FGF8 FGFR1
7 embryonic hindlimb morphogenesis GO:0035116 9.64 CHD7 FGF8
8 negative regulation of axon extension involved in axon guidance GO:0048843 9.64 SEMA3A SEMA3E
9 thyroid gland development GO:0030878 9.63 FGF8 FOXE1
10 cell differentiation GO:0030154 9.63 FGF8 FOXE1 PAX2 SEMA3A SEMA3E SOX11
11 neural crest cell development GO:0014032 9.62 FAM172A SOX11
12 olfactory bulb development GO:0021772 9.62 CHD7 SEMA3A
13 lung morphogenesis GO:0060425 9.61 FGF8 SOX11
14 motor neuron axon guidance GO:0008045 9.61 FGF8 SEMA3A
15 sympathetic nervous system development GO:0048485 9.58 SEMA3A SOX11
16 aorta morphogenesis GO:0035909 9.57 CHD7 FGF8
17 generation of neurons GO:0048699 9.55 FGF8 FGFR1
18 mesonephros development GO:0001823 9.54 FGF8 PAX2
19 branching involved in salivary gland morphogenesis GO:0060445 9.52 FGF8 FGFR1
20 organ induction GO:0001759 9.49 FGF8 FGFR1
21 neuroepithelial cell differentiation GO:0060563 9.46 FGF8 SOX11
22 hard palate development GO:0060022 9.43 FOXE1 SOX11
23 neural crest cell migration GO:0001755 9.43 GBX2 SEMA3A SEMA3E
24 forebrain neuron development GO:0021884 9.4 FGF8 GBX2
25 midbrain-hindbrain boundary development GO:0030917 9.37 FGF8 GBX2
26 soft palate development GO:0060023 9.32 FOXE1 SOX11
27 branching involved in blood vessel morphogenesis GO:0001569 9.13 FGF8 GBX2 SEMA3E
28 inner ear morphogenesis GO:0042472 9.02 CHD7 FGF8 FGFR1 GBX2 PAX2
29 positive regulation of transcription by RNA polymerase II GO:0045944 10.07 CHD7 CHD8 GBX2 PAX2 SMARCA1 SOX11

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.86 CHD6 CHD7 CHD8 FOXE1 GBX2 PAX2
2 chemorepellent activity GO:0045499 9.4 SEMA3A SEMA3E
3 semaphorin receptor binding GO:0030215 9.37 SEMA3A SEMA3E
4 DNA-dependent ATPase activity GO:0008094 9.33 CHD6 CHD8 SMARCA1
5 neuropilin binding GO:0038191 9.32 SEMA3A SEMA3E
6 helicase activity GO:0004386 9.26 CHD6 CHD7 CHD8 SMARCA1
7 hydrolase activity, acting on acid anhydrides GO:0016817 8.8 CHD6 CHD7 CHD8

Sources for Charge Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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