CHARGES
MCID: CHR103
MIFTS: 64

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 57 12 76 24 53 25 75 37 13 44 15 40 73
Charge Association 12 53 25 29 6
Hall-Hittner Syndrome 57 53 25
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies 57
Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies 53
Hall-Hittner Syndrome; Hhs 57
Charges 75
Hhs 57

Characteristics:

OMIM:

57
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:

32
charge syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

24
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 : 53 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 Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Neural Crest Differentiation. Affiliated tissues include heart, retina and eye, and related phenotypes are malar flattening and hypertelorism

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 : 25 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 : 57 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 : 75 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 : 76 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 397)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 32.5 FGFR1 PROKR2 SEMA3E
2 choanal atresia, posterior 29.8 CHD7 FOXE1
3 anosmia 29.6 ANOS1 FGFR1 PROKR2
4 hypogonadism 29.5 ANOS1 CHD7 FGF8 FGFR1 PROK2 PROKR2
5 hypogonadotropic hypogonadism 29.4 ANOS1 CHD7 FGF8 FGFR1 PROK2 PROKR2
6 kallmann syndrome 29.1 ANOS1 CHD7 FGF8 FGFR1 PAX2 PROK2
7 hypotrichosis 1 11.9
8 tumoral calcinosis, hyperphosphatemic, familial, 1 11.8
9 abruzzo-erickson syndrome 11.7
10 hemochromatosis, type 1 11.6
11 dyskeratosis congenita, x-linked 11.6
12 heart-hand syndrome, slovenian type 11.6
13 hypothalamic hamartomas 11.2
14 gitelman syndrome 11.2
15 tibial hemimelia 11.0
16 8q12 microduplication syndrome 11.0
17 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 11.0
18 dyskeratosis congenita, autosomal dominant 1 11.0
19 hypogonadotropic hypogonadism 2 with or without anosmia 11.0
20 dyskeratosis congenita, autosomal recessive 5 11.0
21 hyperinsulinemic hypoglycemia, familial, 6 11.0
22 hypotrichosis simplex 11.0
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 5 with or without anosmia 10.9
30 hypogonadotropic hypogonadism 6 with or without anosmia 10.9
31 hypogonadotropic hypogonadism 8 with or without anosmia 10.9
32 hypogonadotropic hypogonadism 9 with or without anosmia 10.9
33 hypogonadotropic hypogonadism 10 with or without anosmia 10.9
34 hypogonadotropic hypogonadism 11 with or without anosmia 10.9
35 hypogonadotropic hypogonadism 12 with or without anosmia 10.9
36 hypogonadotropic hypogonadism 13 with or without anosmia 10.9
37 hypogonadotropic hypogonadism 14 with or without anosmia 10.9
38 hypogonadotropic hypogonadism 15 with or without anosmia 10.9
39 hypogonadotropic hypogonadism 16 with or without anosmia 10.9
40 hypogonadotropic hypogonadism 17 with or without anosmia 10.9
41 hypogonadotropic hypogonadism 18 with or without anosmia 10.9
42 hypogonadotropic hypogonadism 19 with or without anosmia 10.9
43 hypogonadotropic hypogonadism 20 with or without anosmia 10.9
44 hypogonadotropic hypogonadism 21 with or without anosmia 10.9
45 hypogonadotropic hypogonadism 22 with or without anosmia 10.9
46 tumoral calcinosis, hyperphosphatemic, familial, 2 10.9
47 tumoral calcinosis, hyperphosphatemic, familial, 3 10.9
48 pallister-hall syndrome 10.3
49 isolated optic neuritis 10.3
50 triiodothyronine receptor auxiliary protein 10.2

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



Diseases related to Charge Syndrome

Symptoms & Phenotypes for Charge Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Charge Syndrome:

32 (show top 50) (show all 122)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 occasional (7.5%) HP:0000316
3 ptosis 32 frequent (33%) HP:0000508
4 nystagmus 32 frequent (33%) HP:0000639
5 hypothyroidism 32 HP:0000821
6 intellectual disability 32 very rare (1%) HP:0001249
7 muscular hypotonia 32 frequent (33%) HP:0001252
8 dysphagia 32 HP:0002015
9 respiratory insufficiency 32 occasional (7.5%) HP:0002093
10 aqueductal stenosis 32 occasional (7.5%) HP:0002410
11 scoliosis 32 occasional (7.5%) HP:0002650
12 facial palsy 32 very rare (1%) HP:0010628
13 hearing impairment 32 hallmark (90%) HP:0000365
14 global developmental delay 32 hallmark (90%) HP:0001263
15 depressed nasal bridge 32 frequent (33%) HP:0005280
16 umbilical hernia 32 HP:0001537
17 microtia 32 occasional (7.5%) HP:0008551
18 microcephaly 32 occasional (7.5%) HP:0000252
19 optic atrophy 32 frequent (33%) HP:0000648
20 short stature 32 frequent (33%) HP:0004322
21 gastroesophageal reflux 32 frequent (33%) HP:0002020
22 feeding difficulties in infancy 32 hallmark (90%) HP:0008872
23 delayed puberty 32 hallmark (90%) HP:0000823
24 abnormality of vision 32 occasional (7.5%) HP:0000504
25 laryngomalacia 32 occasional (7.5%) HP:0001601
26 cleft palate 32 frequent (33%) HP:0000175
27 micrognathia 32 HP:0000347
28 feeding difficulties 32 HP:0011968
29 strabismus 32 frequent (33%) HP:0000486
30 delayed eruption of teeth 32 frequent (33%) HP:0000684
31 patent ductus arteriosus 32 frequent (33%) HP:0001643
32 epicanthus 32 occasional (7.5%) HP:0000286
33 cryptorchidism 32 hallmark (90%) HP:0000028
34 autism 32 frequent (33%) HP:0000717
35 attention deficit hyperactivity disorder 32 frequent (33%) HP:0007018
36 intrauterine growth retardation 32 occasional (7.5%) HP:0001511
37 postnatal growth retardation 32 frequent (33%) HP:0008897
38 webbed neck 32 HP:0000465
39 horseshoe kidney 32 occasional (7.5%) HP:0000085
40 atrial septal defect 32 HP:0001631
41 external ear malformation 32 hallmark (90%) HP:0008572
42 hypogonadotrophic hypogonadism 32 hallmark (90%) HP:0000044
43 abnormality of immune system physiology 32 occasional (7.5%) HP:0010978
44 anterior hypopituitarism 32 frequent (33%) HP:0000830
45 aplasia/hypoplasia of the cerebellum 32 occasional (7.5%) HP:0007360
46 chorioretinal coloboma 32 frequent (33%) HP:0000567
47 microphthalmia 32 frequent (33%) HP:0000568
48 clinodactyly of the 5th finger 32 occasional (7.5%) HP:0004209
49 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
50 narrow face 32 frequent (33%) HP:0000275

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

26 (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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.16 CHD7 CHD8 FGF8 FGFR1 GBX2 OTX2
2 cardiovascular system MP:0005385 10.13 CHD7 FGF8 FGFR1 GBX2 OTX2 PAX2
3 embryo MP:0005380 10.02 CHD7 CHD8 FGF8 FGFR1 GBX2 OTX2
4 digestive/alimentary MP:0005381 10.01 CHD7 CHD8 FGF8 FGFR1 FOXE1 GBX2
5 craniofacial MP:0005382 9.98 CHD7 FGF8 FGFR1 FOXE1 GBX2 OTX2
6 endocrine/exocrine gland MP:0005379 9.97 CHD7 FGF8 FGFR1 FOXE1 GBX2 OTX2
7 growth/size/body region MP:0005378 9.96 CHD7 CHD8 FGF8 FGFR1 FOXE1 GBX2
8 nervous system MP:0003631 9.73 CHD7 CHD8 FGF8 FGFR1 GBX2 OTX2
9 hearing/vestibular/ear MP:0005377 9.63 CHD7 FGF8 FGFR1 GBX2 OTX2 PAX2
10 vision/eye MP:0005391 9.23 CHD7 FGF8 FGFR1 GBX2 OTX2 PAX2

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 29 CHD7 SEMA3E

Anatomical Context for Charge Syndrome

MalaCards organs/tissues related to Charge Syndrome:

41
Heart, Retina, Eye, Bone, Kidney, T Cells, Skin

Publications for Charge Syndrome

Articles related to Charge Syndrome:

(show top 50) (show all 389)
# Title Authors Year
1
Clival Malformations in CHARGE Syndrome. ( 29622552 )
2018
2
An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome. ( 29615807 )
2018
3
Cochlear implantation in children with CHARGE syndrome: a report of eight cases. ( 29971494 )
2018
4
Cleft Lip and Palate in CHARGE Syndrome: Phenotypic Features That Influence Management. ( 29437513 )
2018
5
Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome. ( 29311329 )
2018
6
An unclassified variant of <i>CHD7</i> activates a cryptic splice site in a patient with CHARGE syndrome. ( 29531775 )
2018
7
A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy. ( 29355723 )
2018
8
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. ( 29255276 )
2018
9
Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis. ( 29979396 )
2018
10
Etiology and functional validation of gastrointestinal motility dysfunction in a zebrafish model of CHARGE syndrome. ( 29660852 )
2018
11
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. ( 29300383 )
2018
12
Functional Analyses of a Novel Splice Variant in the<i>CHD7</i>Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome. ( 29434620 )
2018
13
Sema3a plays a role in the pathogenesis of CHARGE syndrome. ( 29432577 )
2018
14
Effect of Long-Term Domiciliary High-Flow Nasal Cannula Use in a Child with Atypical Charge Syndrome. ( 30049555 )
2018
15
CHARGE Syndrome with High Bifurcation of the Abdominal Aorta and a Horseshoe Kidney: A Case Report. ( 30146198 )
2018
16
A neonate with marked prolonged mixed apneas and CHARGE syndrome: a case report. ( 30176936 )
2018
17
Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes. ( 30205741 )
2018
18
Identifying pain in children with CHARGE syndrome. ( 30226210 )
2018
19
Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study. ( 30237300 )
2018
20
ALS and CHARGE syndrome: a clinical and genetic study. ( 30317490 )
2018
21
Phenotypic spectrum of CHARGE syndrome based on clinical characteristics ( 30384553 )
2018
22
Multiple muscular abnormalities in a fetal cadaver with CHARGE syndrome. ( 30465074 )
2018
23
A unique case of CHARGE syndrome with craniosynostosis. ( 30498854 )
2018
24
Role of electrostatic correlations in polyelectrolyte charge association. ( 30384694 )
2018
25
CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations. ( 29179815 )
2017
26
Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome. ( 29168327 )
2017
27
Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). ( 28160409 )
2017
28
Coronal clival cleft in CHARGE syndrome. ( 28059674 )
2017
29
Outcomes and Time to Emergence of Auditory Skills After Cochlear Implantation of Children With Charge Syndrome. ( 28657954 )
2017
30
CHARGE Syndrome. ( 28044040 )
2017
31
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. ( 29144511 )
2017
32
A Rare Case of Vascular Ring and Coarctation of the Aorta in Association with CHARGE Syndrome. ( 28461801 )
2017
33
Support for the Diagnosis of CHARGE Syndrome. ( 28241200 )
2017
34
Late Dumping Syndrome in a 17-Year-Old Female With Charge Syndrome. ( 29205658 )
2017
35
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. ( 29178447 )
2017
36
Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up. ( 29088501 )
2017
37
Immunodeficiency in CHARGE syndrome. ( 29159871 )
2017
38
New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries. ( 29171162 )
2017
39
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in<i>KMT2D</i>, a Gene Associated with Kabuki Syndrome: A Case Report. ( 29321794 )
2017
40
Experiences in feeding and gastrointestinal dysfunction in children with CHARGE syndrome. ( 28940710 )
2017
41
Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe. ( 29082627 )
2017
42
Head and Neck MRI Findings in CHARGE Syndrome. ( 28705814 )
2017
43
Guidelines in CHARGE syndrome and the missing link: Cranial imaging. ( 29168326 )
2017
44
Support for the Diagnosis of CHARGE Syndrome-Reply. ( 28241177 )
2017
45
Atopic disorders in CHARGE syndrome: A retrospective study and literature review. ( 29191495 )
2017
46
Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome. ( 27875026 )
2017
47
Behavior in CHARGE syndrome. ( 29082623 )
2017
48
The Modified Rambo Transcanal Approach for Cochlear Implantation in CHARGE Syndrome. ( 28777229 )
2017
49
EP09.10: Prenatal diagnosis of Charge syndrome associated with intestinal malrotation. ( 27644198 )
2016
50
CHARGE Syndrome and Common Variable Immunodeficiency: a case report and review of literature. ( 27062223 )
2016

Variations for Charge Syndrome

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

75 (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 937)
# 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_012431.2(SEMA3E): c.2108C> T (p.Ser703Leu) single nucleotide variant Pathogenic rs121918341 GRCh37 Chromosome 7, 82997122: 82997122
25 SEMA3E NM_012431.2(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.4379_4380delTA (p.Ile1460Argfs) deletion Pathogenic rs398124319 GRCh37 Chromosome 8, 61750660: 61750661
47 CHD7 NM_017780.3(CHD7): c.4379_4380delTA (p.Ile1460Argfs) deletion Pathogenic rs398124319 GRCh38 Chromosome 8, 60838101: 60838102
48 CHD7 NM_017780.3(CHD7): c.4437G> A (p.Gly1479=) single nucleotide variant Conflicting interpretations of pathogenicity rs41265246 GRCh37 Chromosome 8, 61750718: 61750718
49 CHD7 NM_017780.3(CHD7): c.4437G> A (p.Gly1479=) single nucleotide variant Conflicting interpretations of pathogenicity rs41265246 GRCh38 Chromosome 8, 60838159: 60838159
50 CHD7 NM_017780.3(CHD7): c.5051-4C> T single nucleotide variant Benign/Likely benign rs71640288 GRCh37 Chromosome 8, 61757805: 61757805

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

GO Terms for Charge Syndrome

Cellular components related to Charge Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.44 CHD6 CHD7 CHD8 CMAHP FAM124B FAM172A

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.97 CHD8 FGF8 FGFR1 PAX2 PROK2
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.95 CHD7 CHD8 GBX2 OTX2 PAX2 SMARCA1
3 positive regulation of cell proliferation GO:0008284 9.91 FGF8 FGFR1 PAX2 PROK2 SOX11
4 chromatin organization GO:0006325 9.88 CHD6 CHD7 CHD8 SMARCA1
5 skeletal system development GO:0001501 9.79 CHD7 FGFR1 SOX11
6 fibroblast growth factor receptor signaling pathway GO:0008543 9.65 ANOS1 FGF8 FGFR1
7 positive regulation of transcription, DNA-templated GO:0045893 9.63 CHD8 FOXE1 OTX2 PAX2 SMARCA1 SOX11
8 embryonic hindlimb morphogenesis GO:0035116 9.62 CHD7 FGF8
9 thyroid gland development GO:0030878 9.61 FGF8 FOXE1
10 neural crest cell development GO:0014032 9.61 FAM172A SOX11
11 dopaminergic neuron differentiation GO:0071542 9.6 FGF8 OTX2
12 lung morphogenesis GO:0060425 9.59 FGF8 SOX11
13 aorta morphogenesis GO:0035909 9.58 CHD7 FGF8
14 generation of neurons GO:0048699 9.56 FGF8 FGFR1
15 mesonephros development GO:0001823 9.55 FGF8 PAX2
16 branching involved in salivary gland morphogenesis GO:0060445 9.52 FGF8 FGFR1
17 organ induction GO:0001759 9.49 FGF8 FGFR1
18 neuroepithelial cell differentiation GO:0060563 9.46 FGF8 SOX11
19 hard palate development GO:0060022 9.43 FOXE1 SOX11
20 forebrain neuron development GO:0021884 9.37 FGF8 GBX2
21 midbrain-hindbrain boundary development GO:0030917 9.32 FGF8 GBX2
22 soft palate development GO:0060023 9.26 FOXE1 SOX11
23 branching involved in blood vessel morphogenesis GO:0001569 9.13 FGF8 GBX2 SEMA3E
24 inner ear morphogenesis GO:0042472 9.02 CHD7 FGF8 FGFR1 GBX2 PAX2
25 cell differentiation GO:0030154 10.01 FGF8 FGFR1 FOXE1 PAX2 SEMA3E 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 9.91 CHD6 CHD7 CHD8 FOXE1 GBX2 OTX2
2 DNA-dependent ATPase activity GO:0008094 9.33 CHD6 CHD8 SMARCA1
3 helicase activity GO:0004386 9.26 CHD6 CHD7 CHD8 SMARCA1
4 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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