MCID: CHR103
MIFTS: 60

Charge Syndrome

Categories: Genetic diseases, Rare diseases, Ear 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 Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Dopaminergic Neurogenesis. Affiliated tissues include heart, retina and eye, and related phenotypes are malar flattening and hypertelorism

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.

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.

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.

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 73)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 32.0 GNRHR SEMA3E
2 choanal atresia, posterior 30.1 CHD7 FOXE1
3 anosmia 29.7 ANOS1 FGFR1 PROKR2
4 hypogonadism 27.0 ANOS1 CHD7 FGF8 FGFR1 GNRHR PROK2
5 hypogonadotropic hypogonadism 26.9 ANOS1 CHD7 FGF8 FGFR1 GNRHR PROK2
6 kallmann syndrome 26.0 ANOS1 CHD7 FGF8 FGFR1 GNRHR PAX2
7 tumoral calcinosis, hyperphosphatemic, familial, 1 11.8
8 hypotrichosis 1 11.7
9 abruzzo-erickson syndrome 11.6
10 hemochromatosis, type 1 11.5
11 dyskeratosis congenita, x-linked 11.5
12 heart-hand syndrome, slovenian type 11.4
13 hypothalamic hamartomas 11.0
14 gitelman syndrome 11.0
15 tibial hemimelia 10.9
16 8q12 microduplication syndrome 10.9
17 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 10.9
18 omenn syndrome 10.8
19 tinea favosa 10.6 CHD7 FOXE1
20 hartsfield syndrome 10.5 FGF8 FGFR1
21 lobar holoprosencephaly 10.3 FGF8 FGFR1
22 microform holoprosencephaly 10.2 FGF8 FGFR1
23 orofacial cleft 10.1 FGF8 FGFR1 FOXE1
24 semilobar holoprosencephaly 10.1 FGF8 FGFR1
25 congenital aphakia 10.0 OTX2 PAX2
26 coloboma of macula 9.9 CHD7 OTX2 PAX2
27 autism 9.8
28 thanatophoric dysplasia, type i 9.8 FGF8 FGFR1
29 hypogonadotropism 9.8
30 apnea, obstructive sleep 9.7
31 kabuki syndrome 1 9.7
32 polydactyly 9.7
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
34 sleep apnea 9.7
35 cleft palate, isolated 9.5
36 glioma susceptibility 1 9.5
37 diaphragmatic hernia, congenital 9.5
38 medulloblastoma 9.5
39 otitis media 9.5
40 prader-willi syndrome 9.5
41 tracheoesophageal fistula with or without esophageal atresia 9.5
42 down syndrome 9.5
43 williams-beuren syndrome 9.5
44 ritscher-schinzel syndrome 1 9.5
45 glaucoma 3, primary congenital, a 9.5
46 retinitis pigmentosa-deafness syndrome 9.5
47 cataract 9.5
48 common variable immunodeficiency 9.5
49 usher syndrome 9.5
50 autism spectrum disorder 9.5

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

GenitourinaryInternal GenitaliaMale:
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

Genitourinary External Genitalia Male:
micropenis

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

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 10.13 CHD7 CHD8 FGF8 FGFR1 GNRHR OTX2
2 cardiovascular system MP:0005385 10.06 CHD7 FGF8 FGFR1 OTX2 PAX2 SEMA3E
3 embryo MP:0005380 9.92 SEMA3E SOX11 CHD7 CHD8 FGF8 FGFR1
4 digestive/alimentary MP:0005381 9.91 CHD7 FGF8 FGFR1 FOXE1 GNRHR OTX2
5 endocrine/exocrine gland MP:0005379 9.91 CHD7 FGF8 FGFR1 FOXE1 GNRHR OTX2
6 craniofacial MP:0005382 9.88 CHD7 FGF8 FGFR1 FOXE1 OTX2 SOX11
7 nervous system MP:0003631 9.65 CHD7 FGF8 FGFR1 OTX2 PAX2 PROK2
8 hearing/vestibular/ear MP:0005377 9.55 CHD7 FGF8 FGFR1 OTX2 PAX2
9 vision/eye MP:0005391 9.17 CHD7 FGF8 FGFR1 OTX2 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 29 CHD7 SEMA3E

Anatomical Context for Charge Syndrome

MalaCards organs/tissues related to Charge Syndrome:

41
Heart, Retina, Eye, Bone, T Cells, Skin, Adrenal Gland

Publications for Charge Syndrome

Articles related to Charge Syndrome:

(show top 50) (show all 282)
# 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
CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations. ( 29179815 )
2017
15
Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome. ( 29168327 )
2017
16
Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). ( 28160409 )
2017
17
Coronal clival cleft in CHARGE syndrome. ( 28059674 )
2017
18
Outcomes and Time to Emergence of Auditory Skills After Cochlear Implantation of Children With Charge Syndrome. ( 28657954 )
2017
19
CHARGE Syndrome. ( 28044040 )
2017
20
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. ( 29144511 )
2017
21
A Rare Case of Vascular Ring and Coarctation of the Aorta in Association with CHARGE Syndrome. ( 28461801 )
2017
22
Support for the Diagnosis of CHARGE Syndrome. ( 28241200 )
2017
23
Dealing a Neonate with CHARGE Syndrome:Anaesthesia perspective of perioperative care. ( 29492094 )
2017
24
Late Dumping Syndrome in a 17-Year-Old Female With Charge Syndrome. ( 29205658 )
2017
25
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. ( 29178447 )
2017
26
Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up. ( 29088501 )
2017
27
Immunodeficiency in CHARGE syndrome. ( 29159871 )
2017
28
New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries. ( 29171162 )
2017
29
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
30
Experiences in feeding and gastrointestinal dysfunction in children with CHARGE syndrome. ( 28940710 )
2017
31
Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe. ( 29082627 )
2017
32
Head and Neck MRI Findings in CHARGE Syndrome. ( 28705814 )
2017
33
Guidelines in CHARGE syndrome and the missing link: Cranial imaging. ( 29168326 )
2017
34
Support for the Diagnosis of CHARGE Syndrome-Reply. ( 28241177 )
2017
35
Atopic disorders in CHARGE syndrome: A retrospective study and literature review. ( 29191495 )
2017
36
Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome. ( 27875026 )
2017
37
Behavior in CHARGE syndrome. ( 29082623 )
2017
38
The Modified Rambo Transcanal Approach for Cochlear Implantation in CHARGE Syndrome. ( 28777229 )
2017
39
EP09.10: Prenatal diagnosis of Charge syndrome associated with intestinal malrotation. ( 27644198 )
2016
40
CHARGE Syndrome and Common Variable Immunodeficiency: a case report and review of literature. ( 27062223 )
2016
41
Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports. ( 27957375 )
2016
42
Oral features and computerized rehabilitation of a young patient with CHARGE syndrome using minimally invasive long-term interim CAD-CAM restorations. ( 27881329 )
2016
43
CHARGE syndrome gastrointestinal involvement: from mouth to anus. ( 28155231 )
2016
44
A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome. ( 27081570 )
2016
45
Suggestions for a Guideline for Cochlear Implantation in CHARGE Syndrome. ( 27636388 )
2016
46
Cochlear Implantation in Patients With CHARGE Syndrome. ( 27557911 )
2016
47
Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome. ( 27145116 )
2016
48
Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts. ( 27321065 )
2016
49
Newly Emerging Feeding Difficulties in a 33-Year-Old Adult With CHARGE Syndrome. ( 26668685 )
2016
50
Congenital Glaucoma and CHARGE Syndrome: A Case Report. ( 27661987 )
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
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 756)
# 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 CHD7, IVS26AS, G-A, -7 single nucleotide variant Pathogenic
8 CHD7 CHD7, TRP2332TER undetermined variant Pathogenic
9 CHD7 NM_017780.3(CHD7): c.6955C> A (p.Arg2319Ser) single nucleotide variant Pathogenic rs121434341 GRCh37 Chromosome 8, 61768552: 61768552
10 CHD7 NM_017780.3(CHD7): c.6955C> A (p.Arg2319Ser) single nucleotide variant Pathogenic rs121434341 GRCh38 Chromosome 8, 60855993: 60855993
11 CHD7 NM_017780.3(CHD7): c.3811G> T (p.Glu1271Ter) single nucleotide variant Pathogenic rs121434342 GRCh37 Chromosome 8, 61748664: 61748664
12 CHD7 NM_017780.3(CHD7): c.3811G> T (p.Glu1271Ter) single nucleotide variant Pathogenic rs121434342 GRCh38 Chromosome 8, 60836105: 60836105
13 CHD7 NM_017780.3(CHD7): c.5752dupA (p.Thr1918Asnfs) duplication Pathogenic rs786200873 GRCh38 Chromosome 8, 60852105: 60852105
14 CHD7 NM_017780.3(CHD7): c.5752dupA (p.Thr1918Asnfs) duplication Pathogenic rs786200873 GRCh37 Chromosome 8, 61764664: 61764664
15 CHD7 CHD7, DEL EXONS 8-12 deletion Pathogenic
16 CHD7 NM_017780.3(CHD7): c.6322G> A (p.Gly2108Arg) single nucleotide variant Pathogenic rs121434343 GRCh37 Chromosome 8, 61765606: 61765606
17 CHD7 NM_017780.3(CHD7): c.6322G> A (p.Gly2108Arg) single nucleotide variant Pathogenic rs121434343 GRCh38 Chromosome 8, 60853047: 60853047
18 CHD7 NM_017780.3(CHD7): c.2501C> T (p.Ser834Phe) single nucleotide variant Pathogenic rs121434344 GRCh37 Chromosome 8, 61728948: 61728948
19 CHD7 NM_017780.3(CHD7): c.2501C> T (p.Ser834Phe) single nucleotide variant Pathogenic rs121434344 GRCh38 Chromosome 8, 60816389: 60816389
20 CHD7 NM_017780.3(CHD7): c.2442+5G> C single nucleotide variant Pathogenic rs387906271 GRCh37 Chromosome 8, 61714157: 61714157
21 CHD7 NM_017780.3(CHD7): c.2442+5G> C single nucleotide variant Pathogenic rs387906271 GRCh38 Chromosome 8, 60801598: 60801598
22 CHD7 CHD7, 1-BP INS, 8682T insertion Pathogenic
23 CHD7 NM_017780.3(CHD7): c.4795C> T (p.Gln1599Ter) single nucleotide variant Pathogenic rs267606724 GRCh37 Chromosome 8, 61754556: 61754556
24 CHD7 NM_017780.3(CHD7): c.4795C> T (p.Gln1599Ter) single nucleotide variant Pathogenic rs267606724 GRCh38 Chromosome 8, 60841997: 60841997
25 SEMA3E NM_012431.2(SEMA3E): c.2108C> T (p.Ser703Leu) single nucleotide variant Pathogenic rs121918341 GRCh37 Chromosome 7, 82997122: 82997122
26 SEMA3E NM_012431.2(SEMA3E): c.2108C> T (p.Ser703Leu) single nucleotide variant Pathogenic rs121918341 GRCh38 Chromosome 7, 83367806: 83367806
27 CHD7 NM_017780.3(CHD7): c.2839C> T (p.Arg947Ter) single nucleotide variant Pathogenic rs200220845 GRCh37 Chromosome 8, 61734586: 61734586
28 CHD7 NM_017780.3(CHD7): c.2839C> T (p.Arg947Ter) single nucleotide variant Pathogenic rs200220845 GRCh38 Chromosome 8, 60822027: 60822027
29 CHD7 NM_017780.3(CHD7): c.4379_4380delTA (p.Ile1460Argfs) deletion Pathogenic rs398124319 GRCh37 Chromosome 8, 61750660: 61750661
30 CHD7 NM_017780.3(CHD7): c.4379_4380delTA (p.Ile1460Argfs) deletion Pathogenic rs398124319 GRCh38 Chromosome 8, 60838101: 60838102
31 CHD7 NM_017780.3(CHD7): c.5181C> G (p.Tyr1727Ter) single nucleotide variant Pathogenic rs398124320 GRCh37 Chromosome 8, 61757939: 61757939
32 CHD7 NM_017780.3(CHD7): c.5181C> G (p.Tyr1727Ter) single nucleotide variant Pathogenic rs398124320 GRCh38 Chromosome 8, 60845380: 60845380
33 CHD7 NM_017780.3(CHD7): c.5405-7G> A single nucleotide variant Pathogenic rs398124321 GRCh37 Chromosome 8, 61763045: 61763045
34 CHD7 NM_017780.3(CHD7): c.5405-7G> A single nucleotide variant Pathogenic rs398124321 GRCh38 Chromosome 8, 60850486: 60850486
35 CHD7 NM_017780.3(CHD7): c.5895-1G> C single nucleotide variant Pathogenic rs398124322 GRCh37 Chromosome 8, 61765056: 61765056
36 CHD7 NM_017780.3(CHD7): c.5895-1G> C single nucleotide variant Pathogenic rs398124322 GRCh38 Chromosome 8, 60852497: 60852497
37 CHD7 NM_017780.3(CHD7): c.191_194delCAAA (p.Thr64Serfs) deletion Pathogenic rs587783431 GRCh38 Chromosome 8, 60741623: 60741626
38 CHD7 NM_017780.3(CHD7): c.191_194delCAAA (p.Thr64Serfs) deletion Pathogenic rs587783431 GRCh37 Chromosome 8, 61654182: 61654185
39 CHD7 NM_017780.3(CHD7): c.361G> A (p.Gly121Ser) single nucleotide variant Uncertain significance rs587783439 GRCh38 Chromosome 8, 60741793: 60741793
40 CHD7 NM_017780.3(CHD7): c.361G> A (p.Gly121Ser) single nucleotide variant Uncertain significance rs587783439 GRCh37 Chromosome 8, 61654352: 61654352
41 CHD7 NM_017780.3(CHD7): c.856A> G (p.Arg286Gly) single nucleotide variant Benign/Likely benign rs61995713 GRCh37 Chromosome 8, 61654847: 61654847
42 CHD7 NM_017780.3(CHD7): c.856A> G (p.Arg286Gly) single nucleotide variant Benign/Likely benign rs61995713 GRCh38 Chromosome 8, 60742288: 60742288
43 CHD7 NM_017780.3(CHD7): c.1246G> T (p.Gly416Ter) single nucleotide variant Pathogenic rs587783428 GRCh38 Chromosome 8, 60742678: 60742678
44 CHD7 NM_017780.3(CHD7): c.1246G> T (p.Gly416Ter) single nucleotide variant Pathogenic rs587783428 GRCh37 Chromosome 8, 61655237: 61655237
45 CHD7 NM_017780.3(CHD7): c.1480C> T (p.Arg494Ter) single nucleotide variant Pathogenic rs587783429 GRCh38 Chromosome 8, 60742912: 60742912
46 CHD7 NM_017780.3(CHD7): c.1480C> T (p.Arg494Ter) single nucleotide variant Pathogenic rs587783429 GRCh37 Chromosome 8, 61655471: 61655471
47 CHD7 NM_017780.3(CHD7): c.1512A> G (p.Gln504=) single nucleotide variant Uncertain significance rs587783430 GRCh38 Chromosome 8, 60742944: 60742944
48 CHD7 NM_017780.3(CHD7): c.1512A> G (p.Gln504=) single nucleotide variant Uncertain significance rs587783430 GRCh37 Chromosome 8, 61655503: 61655503
49 CHD7 NM_017780.3(CHD7): c.2230G> A (p.Gly744Ser) single nucleotide variant Benign rs141947938 GRCh38 Chromosome 8, 60795119: 60795119
50 CHD7 NM_017780.3(CHD7): c.2230G> A (p.Gly744Ser) single nucleotide variant Benign rs141947938 GRCh37 Chromosome 8, 61707678: 61707678

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 10.7 FGF8 FGFR1 PAX2
2 10.43 FGF8 OTX2

GO Terms for Charge Syndrome

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 9.91 CHD8 FGF8 FGFR1 PAX2 PROK2
2 chromatin organization GO:0006325 9.87 CHD6 CHD7 CHD8 SMARCA1
3 multicellular organism development GO:0007275 9.87 FGF8 FGFR1 GNRHR OTX2 PAX2 SEMA3E
4 positive regulation of cell proliferation GO:0008284 9.83 FGF8 FGFR1 PAX2 PROK2 SOX11
5 skeletal system development GO:0001501 9.77 CHD7 FGFR1 SOX11
6 fibroblast growth factor receptor signaling pathway GO:0008543 9.63 ANOS1 FGF8 FGFR1
7 branching involved in blood vessel morphogenesis GO:0001569 9.62 FGF8 SEMA3E
8 embryonic hindlimb morphogenesis GO:0035116 9.62 CHD7 FGF8
9 ATP-dependent chromatin remodeling GO:0043044 9.61 CHD8 SMARCA1
10 thyroid gland development GO:0030878 9.61 FGF8 FOXE1
11 dopaminergic neuron differentiation GO:0071542 9.59 FGF8 OTX2
12 lung morphogenesis GO:0060425 9.58 FGF8 SOX11
13 generation of neurons GO:0048699 9.56 FGF8 FGFR1
14 aorta morphogenesis GO:0035909 9.55 CHD7 FGF8
15 mesonephros development GO:0001823 9.52 FGF8 PAX2
16 organ induction GO:0001759 9.49 FGF8 FGFR1
17 branching involved in salivary gland morphogenesis GO:0060445 9.48 FGF8 FGFR1
18 positive regulation of transcription, DNA-templated GO:0045893 9.43 CHD8 FOXE1 OTX2 PAX2 SMARCA1 SOX11
19 neuroepithelial cell differentiation GO:0060563 9.37 FGF8 SOX11
20 hard palate development GO:0060022 9.26 FOXE1 SOX11
21 soft palate development GO:0060023 9.16 FOXE1 SOX11
22 inner ear morphogenesis GO:0042472 8.92 CHD7 FGF8 FGFR1 PAX2
23 transcription, DNA-templated GO:0006351 10.18 CHD6 CHD7 CHD8 FGFR1 FOXE1 PAX2
24 regulation of transcription, DNA-templated GO:0006355 10.06 CHD6 CHD7 CHD8 FGFR1 FOXE1 OTX2
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 9.86 CHD6 CHD7 CHD8 FOXE1 OTX2 PAX2
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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