MCID: CHR103
MIFTS: 59

Charge Syndrome

Categories: Genetic diseases, Rare diseases, Ear diseases

Aliases & Classifications for Charge Syndrome

MalaCards integrated aliases for Charge Syndrome:

Name: Charge Syndrome 53 12 72 72 23 49 24 71 36 13 41 14 69
Charge Association 12 49 24 28
Hall-Hittner Syndrome 53 49 24
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies 53
Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies 49
Hall-Hittner Syndrome; Hhs 53
Charges 71
Hhs 53

Characteristics:

OMIM:

53
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:

31
charge syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

23
Penetrance To date, penetrance in those with chd7 pathogenic variants is 100%; i.e., all individuals who are heterozygous for a chd7 pathogenic variant have some features of charge syndrome...

Classifications:



Summaries for Charge Syndrome

NIH Rare Diseases : 49 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. Last updated: 2/16/2017

MalaCards based summary : Charge Syndrome, also known as charge association, is related to hypogonadotropic hypogonadism 7 with or without anosmia and choanal atresia, posterior, and has symptoms including anosmia, malar flattening and hypertelorism. An important gene associated with Charge Syndrome is CHD7 (Chromodomain Helicase DNA Binding Protein 7), and among its related pathways/superpathways is Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include heart, retina and bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

OMIM : 53 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 : 71 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 : 24 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.

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 71)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 31.9 GNRHR SEMA3E
2 choanal atresia, posterior 29.7 CHD7 FOXE1
3 anosmia 29.6 ANOS1 FGFR1 PROKR2
4 coloboma of macula 29.4 CHD7 OTX2 PAX2
5 hypogonadism 28.0 ANOS1 CHD7 FGF8 FGFR1 GNRHR PROK2
6 hypogonadotropic hypogonadism 27.9 ANOS1 CHD7 FGF8 FGFR1 GNRHR PROK2
7 kallmann syndrome 27.2 ANOS1 CHD7 FGF8 FGFR1 GNRHR PAX2
8 tumoral calcinosis, hyperphosphatemic, familial 11.9
9 hypotrichosis 1 11.7
10 abruzzo-erickson syndrome 11.6
11 hemochromatosis, type 1 11.5
12 dyskeratosis congenita, x-linked 11.5
13 heart-hand syndrome, slovenian type 11.4
14 hypothalamic hamartomas 11.0
15 gitelman syndrome 11.0
16 tibial hemimelia 10.9
17 8q12 microduplication syndrome 10.9
18 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 10.9
19 ocular dominance 10.9
20 omenn syndrome 10.9
21 familial periodic paralysis 10.9
22 tinea favosa 10.4 CHD7 FOXE1
23 hartsfield syndrome 10.3 FGF8 FGFR1
24 microform holoprosencephaly 10.3 FGF8 FGFR1
25 lobar holoprosencephaly 10.2 FGF8 FGFR1
26 orofacial cleft 10.0 FGF8 FGFR1 FOXE1
27 semilobar holoprosencephaly 9.9 FGF8 FGFR1
28 autism 9.9
29 congenital aphakia 9.8 OTX2 PAX2
30 hypogonadotropism 9.8
31 apnea, obstructive sleep 9.7
32 kabuki syndrome 1 9.7
33 branchiootic syndrome 1 9.7
34 polydactyly 9.7
35 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
36 sleep apnea 9.7
37 cataract 5, multiple types 9.6
38 cleft palate, isolated 9.6
39 glioma susceptibility 1 9.6
40 diaphragmatic hernia, congenital 9.6
41 medulloblastoma 9.6
42 otitis media 9.6
43 prader-willi syndrome 9.6
44 tracheoesophageal fistula with or without esophageal atresia 9.6
45 down syndrome 9.6
46 williams-beuren syndrome 9.6
47 ritscher-schinzel syndrome 1 9.6
48 retinitis pigmentosa-deafness syndrome 9.6
49 cataract 9.6
50 common variable immunodeficiency 9.6

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:

53
Head And Neck Nose:
anosmia
posterior choanal atresia (membranous and/or bony)

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 Gastroin testinal:
anal atresia
tracheoesophageal fistula
esophageal atresia
anal stenosis
duodenal atresia
more
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 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 Ears:
small ears
cup-shaped ears
lop ears
deafness (sensorineural or mixed sensorineural and conductive)
mondini defect
more
Chest RibsSternum 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:

31 (show top 50) (show all 125)
# Description HPO Frequency HPO Source Accession
1 anosmia 31 hallmark (90%) HP:0000458
2 malar flattening 31 HP:0000272
3 hypertelorism 31 very rare (1%) HP:0000316
4 ptosis 31 very rare (1%) HP:0000508
5 nystagmus 31 frequent (33%) HP:0000639
6 hypothyroidism 31 HP:0000821
7 intellectual disability 31 very rare (1%) HP:0001249
8 muscular hypotonia 31 frequent (33%) HP:0001252
9 dysphagia 31 HP:0002015
10 respiratory insufficiency 31 occasional (7.5%) HP:0002093
11 aqueductal stenosis 31 occasional (7.5%) HP:0002410
12 scoliosis 31 very rare (1%) HP:0002650
13 facial palsy 31 frequent (33%) HP:0010628
14 hearing impairment 31 hallmark (90%) HP:0000365
15 global developmental delay 31 hallmark (90%) HP:0001263
16 depressed nasal bridge 31 frequent (33%) HP:0005280
17 umbilical hernia 31 HP:0001537
18 microtia 31 very rare (1%) HP:0008551
19 microcephaly 31 very rare (1%) HP:0000252
20 optic atrophy 31 frequent (33%) HP:0000648
21 short stature 31 frequent (33%) HP:0004322
22 gastroesophageal reflux 31 frequent (33%) HP:0002020
23 feeding difficulties in infancy 31 hallmark (90%) HP:0008872
24 delayed puberty 31 hallmark (90%) HP:0000823
25 abnormality of vision 31 occasional (7.5%) HP:0000504
26 laryngomalacia 31 occasional (7.5%) HP:0001601
27 cleft palate 31 very rare (1%) HP:0000175
28 micrognathia 31 very rare (1%) HP:0000347
29 feeding difficulties 31 HP:0011968
30 strabismus 31 frequent (33%) HP:0000486
31 delayed eruption of teeth 31 frequent (33%) HP:0000684
32 patent ductus arteriosus 31 frequent (33%) HP:0001643
33 epicanthus 31 occasional (7.5%) HP:0000286
34 cryptorchidism 31 hallmark (90%) HP:0000028
35 autism 31 frequent (33%) HP:0000717
36 attention deficit hyperactivity disorder 31 frequent (33%) HP:0007018
37 intrauterine growth retardation 31 occasional (7.5%) HP:0001511
38 postnatal growth retardation 31 frequent (33%) HP:0008897
39 webbed neck 31 very rare (1%) HP:0000465
40 horseshoe kidney 31 occasional (7.5%) HP:0000085
41 atrial septal defect 31 HP:0001631
42 external ear malformation 31 hallmark (90%) HP:0008572
43 hypogonadotrophic hypogonadism 31 very rare (1%) HP:0000044
44 abnormality of immune system physiology 31 occasional (7.5%) HP:0010978
45 anterior hypopituitarism 31 frequent (33%) HP:0000830
46 aplasia/hypoplasia of the cerebellum 31 occasional (7.5%) HP:0007360
47 chorioretinal coloboma 31 frequent (33%) HP:0000567
48 microphthalmia 31 frequent (33%) HP:0000568
49 clinodactyly of the 5th finger 31 occasional (7.5%) HP:0004209
50 low-set, posteriorly rotated ears 31 frequent (33%) HP:0000368

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

25 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.5 CHD8
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.5 CHD8
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.5 CHD8
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.5 FGF8
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.5 CHD8
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.5 FGF8
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.5 CHD8 FGF8 PROKR2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.5 FGF8
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.5 FGF8
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.5 CHD8
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.5 PROKR2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.5 PROKR2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.5 PROKR2

MGI Mouse Phenotypes related to Charge Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 CHD7 CHD8 FGF8 FGFR1 GNRHR OTX2
2 embryo MP:0005380 9.92 SEMA3E SOX11 CHD7 CHD8 FGF8 FGFR1
3 digestive/alimentary MP:0005381 9.91 CHD7 FGF8 FGFR1 FOXE1 GNRHR OTX2
4 endocrine/exocrine gland MP:0005379 9.91 CHD7 FGF8 FGFR1 FOXE1 GNRHR OTX2
5 craniofacial MP:0005382 9.88 CHD7 FGF8 FGFR1 FOXE1 OTX2 SOX11
6 nervous system MP:0003631 9.65 CHD7 FGF8 FGFR1 OTX2 PAX2 PROK2
7 hearing/vestibular/ear MP:0005377 9.55 CHD7 FGF8 FGFR1 OTX2 PAX2
8 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

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 28 CHD7 SEMA3E

Anatomical Context for Charge Syndrome

MalaCards organs/tissues related to Charge Syndrome:

38
Heart, Retina, Bone, T Cells, Skin, Kidney, Adrenal Gland

Publications for Charge Syndrome

Articles related to Charge Syndrome:

(show top 50) (show all 275)
# Title Authors Year
1
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
2
A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy. ( 29355723 )
2018
3
Cleft Lip and Palate in CHARGE Syndrome: Phenotypic Features That Influence Management. ( 29437513 )
2018
4
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. ( 29300383 )
2018
5
Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome. ( 29311329 )
2018
6
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. ( 29255276 )
2018
7
Sema3a plays a role in the pathogenesis of CHARGE syndrome. ( 29432577 )
2018
8
The Modified Rambo Transcanal Approach for Cochlear Implantation in CHARGE Syndrome. ( 28777229 )
2017
9
Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome. ( 27875026 )
2017
10
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. ( 29144511 )
2017
11
Experiences in feeding and gastrointestinal dysfunction in children with CHARGE syndrome. ( 28940710 )
2017
12
Late Dumping Syndrome in a 17-Year-Old Female With Charge Syndrome. ( 29205658 )
2017
13
Support for the Diagnosis of CHARGE Syndrome. ( 28241200 )
2017
14
Immunodeficiency in CHARGE syndrome. ( 29159871 )
2017
15
Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome. ( 29168327 )
2017
16
New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries. ( 29171162 )
2017
17
CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations. ( 29179815 )
2017
18
Outcomes and Time to Emergence of Auditory Skills After Cochlear Implantation of Children With Charge Syndrome. ( 28657954 )
2017
19
Coronal clival cleft in CHARGE syndrome. ( 28059674 )
2017
20
Support for the Diagnosis of CHARGE Syndrome-Reply. ( 28241177 )
2017
21
A Rare Case of Vascular Ring and Coarctation of the Aorta in Association with CHARGE Syndrome. ( 28461801 )
2017
22
Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe. ( 29082627 )
2017
23
Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). ( 28160409 )
2017
24
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. ( 29178447 )
2017
25
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
26
Guidelines in CHARGE syndrome and the missing link: Cranial imaging. ( 29168326 )
2017
27
Atopic disorders in CHARGE syndrome: A retrospective study and literature review. ( 29191495 )
2017
28
CHARGE Syndrome. ( 28044040 )
2017
29
Head and Neck MRI Findings in CHARGE Syndrome. ( 28705814 )
2017
30
Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up. ( 29088501 )
2017
31
Behavior in CHARGE syndrome. ( 29082623 )
2017
32
12th International CHARGE syndrome conference proceedings. ( 26754144 )
2016
33
Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts. ( 27321065 )
2016
34
Congenital Glaucoma and CHARGE Syndrome: A Case Report. ( 27661987 )
2016
35
CHARGE Syndrome and Common Variable Immunodeficiency: a case report and review of literature. ( 27062223 )
2016
36
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. ( 27832265 )
2016
37
Packing and Problematic Feeding Behaviors in CHARGE Syndrome: A Qualitative Analysis. ( 26857326 )
2016
38
Correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. ( 27739643 )
2016
39
Cochlear Implantation in Patients With CHARGE Syndrome. ( 27557911 )
2016
40
Suggestions for a Guideline for Cochlear Implantation in CHARGE Syndrome. ( 27636388 )
2016
41
EP09.10: Prenatal diagnosis of Charge syndrome associated with intestinal malrotation. ( 27644198 )
2016
42
Prenatal Findings in Children with early postnatal diagnosis of CHARGE Syndrome. ( 27061523 )
2016
43
CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery. ( 27324890 )
2016
44
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. ( 26590800 )
2016
45
Quality of life in adolescents and adults with CHARGE syndrome. ( 27273681 )
2016
46
A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome. ( 27081570 )
2016
47
Radiologic and Audiologic Findings in the Temporal Bone of Patients with CHARGE Syndrome. ( 27303220 )
2016
48
A case of mild CHARGE syndrome associated with a splice site mutation in CHD7. ( 26921530 )
2016
49
Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity. ( 28616537 )
2016
50
Duplication 2p25 in a child with clinical features of CHARGE syndrome. ( 26850571 )
2016

Variations for Charge Syndrome

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

71 (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 145)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHD7 NM_017780.3(CHD7): c.2839C> T (p.Arg947Ter) single nucleotide variant Pathogenic rs200220845 GRCh37 Chromosome 8, 61734586: 61734586
2 CHD7 NM_017780.3(CHD7): c.4379_4380delTA (p.Ile1460Argfs) deletion Pathogenic rs398124319 GRCh37 Chromosome 8, 61750660: 61750661
3 CHD7 NM_017780.3(CHD7): c.5181C> G (p.Tyr1727Ter) single nucleotide variant Pathogenic rs398124320 GRCh37 Chromosome 8, 61757939: 61757939
4 CHD7 NM_017780.3(CHD7): c.5405-7G> A single nucleotide variant Pathogenic rs398124321 GRCh37 Chromosome 8, 61763045: 61763045
5 CHD7 NM_017780.3(CHD7): c.5895-1G> C single nucleotide variant Pathogenic rs398124322 GRCh37 Chromosome 8, 61765056: 61765056
6 CHD7 NM_017780.3(CHD7): c.191_194delCAAA (p.Thr64Serfs) deletion Pathogenic rs587783431 GRCh38 Chromosome 8, 60741623: 60741626
7 CHD7 NM_017780.3(CHD7): c.1246G> T (p.Gly416Ter) single nucleotide variant Pathogenic rs587783428 GRCh38 Chromosome 8, 60742678: 60742678
8 CHD7 NM_017780.3(CHD7): c.1480C> T (p.Arg494Ter) single nucleotide variant Pathogenic rs587783429 GRCh38 Chromosome 8, 60742912: 60742912
9 CHD7 NM_017780.3(CHD7): c.2613+1G> A single nucleotide variant Pathogenic rs587783432 GRCh38 Chromosome 8, 60816502: 60816502
10 CHD7 NM_017780.3(CHD7): c.2643T> G (p.Tyr881Ter) single nucleotide variant Pathogenic rs587783433 GRCh38 Chromosome 8, 60820036: 60820036
11 CHD7 NM_017780.3(CHD7): c.2815G> T (p.Glu939Ter) single nucleotide variant Pathogenic rs587783434 GRCh38 Chromosome 8, 60821907: 60821907
12 CHD7 NM_017780.3(CHD7): c.2905_2906delAG (p.Arg969Glyfs) deletion Pathogenic rs587783436 GRCh38 Chromosome 8, 60822093: 60822094
13 CHD7 NM_017780.3(CHD7): c.4318C> T (p.Gln1440Ter) single nucleotide variant Pathogenic rs587783440 GRCh38 Chromosome 8, 60837800: 60837800
14 CHD7 NM_017780.3(CHD7): c.4353+3A> G single nucleotide variant Likely pathogenic rs587783441 GRCh38 Chromosome 8, 60837838: 60837838
15 CHD7 NM_017780.3(CHD7): c.4480C> T (p.Arg1494Ter) single nucleotide variant Pathogenic rs587783442 GRCh38 Chromosome 8, 60838202: 60838202
16 CHD7 NM_017780.3(CHD7): c.4634delT (p.Leu1545Terfs) deletion Pathogenic rs587783443 GRCh38 Chromosome 8, 60841744: 60841744
17 CHD7 NM_017780.3(CHD7): c.5450T> G (p.Phe1817Cys) single nucleotide variant Likely pathogenic rs587783445 GRCh38 Chromosome 8, 60850538: 60850538
18 CHD7 NM_017780.3(CHD7): c.5458C> T (p.Arg1820Ter) single nucleotide variant Pathogenic rs587783446 GRCh38 Chromosome 8, 60850546: 60850546
19 CHD7 NM_017780.3(CHD7): c.5551G> T (p.Glu1851Ter) single nucleotide variant Pathogenic rs587783447 GRCh38 Chromosome 8, 60851048: 60851048
20 CHD7 NM_017780.3(CHD7): c.5666-2A> C single nucleotide variant Pathogenic rs587783448 GRCh38 Chromosome 8, 60852017: 60852017
21 CHD7 NM_017780.3(CHD7): c.6157C> T (p.Arg2053Ter) single nucleotide variant Pathogenic rs587783450 GRCh38 Chromosome 8, 60852882: 60852882
22 CHD7 NM_017780.3(CHD7): c.6287A> G (p.His2096Arg) single nucleotide variant Likely pathogenic rs587783451 GRCh38 Chromosome 8, 60853012: 60853012
23 CHD7 NM_017780.3(CHD7): c.6850C> T (p.Arg2284Ter) single nucleotide variant Pathogenic rs587783454 GRCh38 Chromosome 8, 60854437: 60854437
24 CHD7 NM_017780.3(CHD7): c.7252C> T (p.Arg2418Ter) single nucleotide variant Pathogenic rs587783455 GRCh38 Chromosome 8, 60856532: 60856532
25 CHD7 NM_017780.3(CHD7): c.7384_7387delTCTT (p.Ser2462Glnfs) deletion Pathogenic rs587783456 GRCh38 Chromosome 8, 60856664: 60856667
26 CHD7 NM_017780.3(CHD7): c.7891C> T (p.Arg2631Ter) single nucleotide variant Pathogenic rs587783457 GRCh38 Chromosome 8, 60862256: 60862256
27 CHD7 NM_017780.3(CHD7): c.7957C> T (p.Arg2653Ter) single nucleotide variant Pathogenic rs587783458 GRCh38 Chromosome 8, 60862322: 60862322
28 CHD7 NM_017780.3(CHD7): c.8055G> A (p.Trp2685Ter) single nucleotide variant Pathogenic rs587783459 GRCh38 Chromosome 8, 60862631: 60862631
29 CHD7 NM_017780.3(CHD7): c.1090C> T (p.Gln364Ter) single nucleotide variant Pathogenic rs727503860 GRCh37 Chromosome 8, 61655081: 61655081
30 CHD7 NM_017780.3(CHD7): c.1369C> T (p.Gln457Ter) single nucleotide variant Pathogenic rs727503861 GRCh37 Chromosome 8, 61655360: 61655360
31 CHD7 NM_017780.3(CHD7): c.2933G> A (p.Trp978Ter) single nucleotide variant Pathogenic rs727503863 GRCh37 Chromosome 8, 61734680: 61734680
32 CHD7 NM_017780.3(CHD7): c.7145dupC (p.Ser2383Valfs) duplication Pathogenic rs786200969 GRCh37 Chromosome 8, 61768742: 61768742
33 CHD7 NM_017780.3(CHD7): c.1487_1488insA (p.Pro497Thrfs) duplication Pathogenic rs786204200 GRCh38 Chromosome 8, 60742920: 60742920
34 CHD7 NM_017780.3(CHD7): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs794727293 GRCh37 Chromosome 8, 61654460: 61654460
35 CHD7 NM_017780.3(CHD7): c.1224_1234delTCCTCCTCCAC (p.Pro409Serfs) deletion Pathogenic rs794727295 GRCh37 Chromosome 8, 61655215: 61655225
36 CHD7 NM_017780.3(CHD7): c.1465C> T (p.Gln489Ter) single nucleotide variant Pathogenic rs794727298 GRCh37 Chromosome 8, 61655456: 61655456
37 CHD7 NM_017780.3(CHD7): c.6529G> T (p.Glu2177Ter) single nucleotide variant Pathogenic rs750047137 GRCh37 Chromosome 8, 61765813: 61765813
38 CHD7 NM_017780.3(CHD7): c.6995G> A (p.Trp2332Ter) single nucleotide variant Pathogenic rs794727569 GRCh37 Chromosome 8, 61768592: 61768592
39 CHD7 NM_017780.3(CHD7): c.8453_8463dupACCCTCTGTCA (p.Ala2822Thrfs) duplication Pathogenic rs797044725 GRCh37 Chromosome 8, 61777951: 61777961
40 CHD7 NM_017780.3(CHD7): c.3082A> G (p.Ile1028Val) single nucleotide variant Pathogenic rs121434338 GRCh37 Chromosome 8, 61735186: 61735186
41 CHD7 NM_017780.3(CHD7): c.3770T> G (p.Leu1257Arg) single nucleotide variant Pathogenic rs121434339 GRCh37 Chromosome 8, 61743128: 61743128
42 CHD7 NM_017780.3(CHD7): c.5418C> G (p.Tyr1806Ter) single nucleotide variant Pathogenic rs121434340 GRCh37 Chromosome 8, 61763065: 61763065
43 CHD7 CHD7, IVS26AS, G-A, -7 single nucleotide variant Pathogenic
44 CHD7 CHD7, TRP2332TER undetermined variant Pathogenic
45 CHD7 NM_017780.3(CHD7): c.6955C> A (p.Arg2319Ser) single nucleotide variant Pathogenic rs121434341 GRCh37 Chromosome 8, 61768552: 61768552
46 CHD7 NM_017780.3(CHD7): c.3811G> T (p.Glu1271Ter) single nucleotide variant Pathogenic rs121434342 GRCh37 Chromosome 8, 61748664: 61748664
47 CHD7 NM_017780.3(CHD7): c.5752dupA (p.Thr1918Asnfs) duplication Pathogenic rs786200873 GRCh38 Chromosome 8, 60852105: 60852105
48 CHD7 CHD7, DEL EXONS 8-12 deletion Pathogenic
49 CHD7 NM_017780.3(CHD7): c.6322G> A (p.Gly2108Arg) single nucleotide variant Pathogenic rs121434343 GRCh37 Chromosome 8, 61765606: 61765606
50 CHD7 NM_017780.3(CHD7): c.2501C> T (p.Ser834Phe) single nucleotide variant Pathogenic rs121434344 GRCh37 Chromosome 8, 61728948: 61728948

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

GO Terms for Charge Syndrome

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 covalent chromatin modification GO:0016569 9.83 CHD6 CHD7 CHD8 SMARCA1
2 positive regulation of cell proliferation GO:0008284 9.8 FGF8 FGFR1 PAX2 PROK2 SOX11
3 skeletal system development GO:0001501 9.77 CHD7 FGFR1 SOX11
4 embryonic hindlimb morphogenesis GO:0035116 9.61 CHD7 FGF8
5 fibroblast growth factor receptor signaling pathway GO:0008543 9.61 ANOS1 FGF8 FGFR1
6 thyroid gland development GO:0030878 9.59 FGF8 FOXE1
7 ATP-dependent chromatin remodeling GO:0043044 9.58 CHD8 SMARCA1
8 dopaminergic neuron differentiation GO:0071542 9.58 FGF8 OTX2
9 lung morphogenesis GO:0060425 9.56 FGF8 SOX11
10 aorta morphogenesis GO:0035909 9.54 CHD7 FGF8
11 mesonephros development GO:0001823 9.51 FGF8 PAX2
12 generation of neurons GO:0048699 9.49 FGF8 FGFR1
13 organ induction GO:0001759 9.48 FGF8 FGFR1
14 branching involved in salivary gland morphogenesis GO:0060445 9.46 FGF8 FGFR1
15 positive regulation of transcription, DNA-templated GO:0045893 9.43 CHD8 FOXE1 OTX2 PAX2 SMARCA1 SOX11
16 neuroepithelial cell differentiation GO:0060563 9.32 FGF8 SOX11
17 hard palate development GO:0060022 9.26 FOXE1 SOX11
18 soft palate development GO:0060023 9.16 FOXE1 SOX11
19 inner ear morphogenesis GO:0042472 8.92 CHD7 FGF8 FGFR1 PAX2
20 transcription, DNA-templated GO:0006351 10.17 CHD6 CHD7 CHD8 FGFR1 FOXE1 PAX2
21 multicellular organism development GO:0007275 10.02 FGF8 GNRHR OTX2 PAX2 SEMA3E SOX11
22 regulation of transcription, DNA-templated GO:0006355 10.02 CHD6 CHD7 CHD8 FGFR1 FOXE1 OTX2

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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