CHARGES
MCID: CHR103
MIFTS: 66

Charge Syndrome (CHARGES)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Charge Syndrome

MalaCards integrated aliases for Charge Syndrome:

Name: Charge Syndrome 56 12 74 24 52 25 58 73 36 13 43 15 39 71
Charge Association 12 52 25 58 29 6
Hall-Hittner Syndrome 56 52 25 58
Coloboma-Heart Defects-Atresia Choanae-Retardation of Growth and Development-Genitourinary Problems-Ear Abnormalities Syndrome 58
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies 56
Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies 52
Hall-Hittner Syndrome; Hhs 56
Charges 73
Hhs 56

Characteristics:

Orphanet epidemiological data:

58
charge syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Canada); Age of onset: Neonatal; Age of death: adolescent,late childhood;

OMIM:

56
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:
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:

Orphanet: 58  
Rare eye diseases
Rare cardiac malformations
Rare renal diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Charge Syndrome

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. The major characteristics of CHARGE syndrome are common in this disorder and occur less frequently in other disorders. Most individuals with CHARGE syndrome have a gap or hole in one of the structures of the eye (coloboma), which forms during early development. A coloboma may be present in one or both eyes and may impair a person's vision, depending on its size and location. Some affected individuals also have abnormally small or underdeveloped eyes (microphthalmia). In many people with CHARGE syndrome, one or both nasal passages are narrowed (choanal stenosis) or completely blocked (choanal atresia), which can cause difficulty breathing. Affected individuals frequently have cranial nerve abnormalities. The cranial nerves emerge directly from the brain and extend to various areas of the head and neck, controlling muscle movement and transmitting sensory information. Abnormal function of certain cranial nerves can cause swallowing problems, facial paralysis, a sense of smell that is diminished (hyposmia) or completely absent (anosmia), and mild to profound hearing loss. People with CHARGE syndrome also typically have middle and inner ear abnormalities, which can contribute to hearing problems, and unusually shaped external ears. While the minor characteristics of CHARGE syndrome are common in this disorder, they are also frequently present in people without the disorder. The minor characteristics include heart defects; slow growth starting in late infancy; delayed development of motor skills, such as sitting unsupported and walking; and an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Affected individuals frequently have hypogonadotropic hypogonadism, which affects the production of hormones that direct sexual development. As a result, males with CHARGE syndrome are often born with an unusually small penis (micropenis) and undescended testes (cryptorchidism). Abnormalities of external genitalia are seen less often in affected females. Puberty can be incomplete or delayed in affected males and females. Another minor feature of CHARGE syndrome is tracheoesophageal fistula, which is an abnormal connection (fistula) between the esophagus and the trachea. Most people with CHARGE syndrome also have distinctive facial features, including a square-shaped face and differences in appearance between the right and left sides of the face (facial asymmetry). Affected individuals have a wide range of cognitive function, from normal intelligence to major learning disabilities with absent speech and poor communication. Less common features of CHARGE syndrome include kidney abnormalities; immune system problems; abnormal curvature of the spine (scoliosis or kyphosis); and limb abnormalities, such as extra fingers or toes (polydactyly), missing fingers or toes (oligodactyly), an inward and upward turning foot (club foot), and abnormalities of the long bones of the arms and legs.

MalaCards based summary : Charge Syndrome, also known as charge association, is related to hypogonadotropism and sensorineural hearing loss. An important gene associated with Charge Syndrome is CHD7 (Chromodomain Helicase DNA Binding Protein 7), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and WNT Signaling. Affiliated tissues include heart, bone and eye, and related phenotypes are hearing impairment and global developmental delay

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

NIH Rare Diseases : 52 CHARGE syndrome is a congenital condition (present from birth) that affects many areas of the body. CHARGE stands for c oloboma, h eart defect, a tresia c hoanae (also known as choanal atresia ), r estricted growth and development, g enital abnormality, and e ar 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.

OMIM : 56 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)

KEGG : 36 CHARGE syndrome is a rare, usually sporadic disorder with multiple congenital anomalies. CHARGE is an acronym for the six prevalent clinical features of the disease, namely, coloboma, heart defect, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear anomalies/deafness. Abnormal semicircular canals, arhinencephaly, and rhombencephalic dysfunctions are also considered as important features. Nearly 2/3 of cases harbor mutations within the CHD7 gene.

UniProtKB/Swiss-Prot : 73 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 : 74 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 1105)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropism 31.1 PROKR2 ANOS1
2 sensorineural hearing loss 30.9 PROKR2 PAX2 FGFR1 FGF8 CHD7 ANOS1
3 choanal atresia, posterior 30.9 SMARCA2 PROKR2 PROK2 FOXE1 FGF8 CHD7
4 hypogonadism 30.8 SEMA3A PROKR2 PROK2 FGFR1 FGF8 CHD7
5 hypogonadotropic hypogonadism 30.7 SEMA3A PROKR2 PROK2 FGFR1 FGF8 CHD7
6 cryptorchidism, unilateral or bilateral 30.7 PROKR2 PROK2 FGFR1 FGF8 CHD7 ANOS1
7 coloboma of macula 30.6 SOX11 SMARCA2 PTK6 PROKR2 PROK2 PAX2
8 kallmann syndrome 30.5 SEMA3E SEMA3A PROKR2 PROK2 PAX2 FGFR1
9 congenital hypogonadotropic hypogonadism 30.3 FGFR1 CHD7 ANOS1
10 microphthalmia 30.3 SMARCA4 SMARCA2 PAX2 CHD7 CDH19
11 vesicoureteral reflux 1 30.3 PAX2 FGF8 CHD7
12 hypogonadotropic hypogonadism 7 with or without anosmia 30.2 SEMA3E PROKR2 FGFR1 ANOS1
13 septooptic dysplasia 30.0 PROKR2 PROK2 FGFR1 FGF8 ANOS1
14 normosmic congenital hypogonadotropic hypogonadism 30.0 PROKR2 PROK2 FGFR1 FGF8 CHD7 ANOS1
15 renal hypodysplasia/aplasia 1 29.8 PROKR2 PROK2 PAX2 FGFR1 FGF8 ANOS1
16 tumoral calcinosis, hyperphosphatemic, familial, 1 12.0
17 hypotrichosis 1 12.0
18 hemochromatosis, type 1 11.8
19 dyskeratosis congenita, x-linked 11.8
20 heart-hand syndrome, slovenian type 11.7
21 tibial hemimelia 11.5
22 periodic paralysis 11.5
23 hypogonadotropic hypogonadism 15 with or without anosmia 11.4
24 hypothalamic hamartomas 11.3
25 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 11.3
26 inclusion body myositis 11.3
27 gitelman syndrome 11.3
28 dyskeratosis congenita, autosomal dominant 1 11.2
29 hypogonadotropic hypogonadism 2 with or without anosmia 11.2
30 dyskeratosis congenita, autosomal recessive 5 11.2
31 hoyeraal hreidarsson syndrome 11.2
32 burn-mckeown syndrome 11.2
33 8q12 microduplication syndrome 11.2
34 hyperinsulinemic hypoglycemia, familial, 6 11.2
35 hypotrichosis simplex 11.2
36 antiphospholipid syndrome, familial 11.1
37 ocular dominance 11.1
38 scott syndrome 11.1
39 familial periodic paralysis 11.1
40 laryngeal cleft 11.1
41 hypogonadotropic hypogonadism 3 with or without anosmia 11.0
42 hypogonadotropic hypogonadism 4 with or without anosmia 11.0
43 hypogonadotropic hypogonadism 6 with or without anosmia 11.0
44 hypogonadotropic hypogonadism 8 with or without anosmia 11.0
45 hypogonadotropic hypogonadism 9 with or without anosmia 11.0
46 hypogonadotropic hypogonadism 10 with or without anosmia 11.0
47 hypogonadotropic hypogonadism 11 with or without anosmia 11.0
48 hypogonadotropic hypogonadism 12 with or without anosmia 11.0
49 hypogonadotropic hypogonadism 13 with or without anosmia 11.0
50 hypogonadotropic hypogonadism 14 with or without anosmia 11.0

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



Diseases related to Charge Syndrome

Symptoms & Phenotypes for Charge Syndrome

Human phenotypes related to Charge Syndrome:

58 31 (show top 50) (show all 132)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
4 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
5 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
6 external ear malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008572
7 hypogonadotrophic hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000044
8 micropenis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000054
9 overfolded helix 58 31 hallmark (90%) Very frequent (99-80%) HP:0000396
10 anosmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000458
11 iris coloboma 58 31 very rare (1%) Very frequent (99-80%) HP:0000612
12 aplasia/hypoplasia of the earlobes 58 31 hallmark (90%) Very frequent (99-80%) HP:0009906
13 hypoplasia of the semicircular canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0011382
14 intellectual disability 58 31 very rare (1%) Frequent (79-30%) HP:0001249
15 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
16 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
17 facial palsy 58 31 very rare (1%) Frequent (79-30%) HP:0010628
18 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
19 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
20 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
21 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
22 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
23 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
24 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
25 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
26 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
27 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
28 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
29 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
30 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
31 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
32 anterior hypopituitarism 58 31 frequent (33%) Frequent (79-30%) HP:0000830
33 chorioretinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000567
34 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
35 choanal atresia 58 31 very rare (1%) Frequent (79-30%) HP:0000453
36 interrupted aortic arch 58 31 frequent (33%) Frequent (79-30%) HP:0011611
37 obsessive-compulsive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000722
38 tetralogy of fallot 58 31 frequent (33%) Frequent (79-30%) HP:0001636
39 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
40 abnormality of female internal genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000008
41 bifid scrotum 58 31 frequent (33%) Frequent (79-30%) HP:0000048
42 labial hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000066
43 cleft upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0000204
44 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
45 facial asymmetry 58 31 very rare (1%) Frequent (79-30%) HP:0000324
46 anophthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000528
47 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
48 dimple chin 31 frequent (33%) HP:0010751
49 aortic arch aneurysm 31 frequent (33%) HP:0005113
50 abnormal aortic valve morphology 31 frequent (33%) HP:0001646

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
malar flattening
micrognathia
facial asymmetry
square face

Neurologic Peripheral Nervous System:
dysphagia
facial palsy
cranial nerve anomalies

Abdomen External Features:
umbilical hernia
omphalocele

Genitourinary Kidneys:
horseshoe kidney
hydronephrosis

Head And Neck Head:
microcephaly

Cardiovascular Vascular:
patent ductus arteriosus

Growth Other:
postnatal growth retardation

Laboratory Abnormalities:
hypocalcemia

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

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
Endocrine Features:
hypothyroidism
growth hormone deficiency
parathyroid hypoplasia
gonadotropin deficiency

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Head And Neck Mouth:
cleft palate
cleft lip

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

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

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.47 CHD8
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.47 CHD8
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.47 CHD8
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.47 FGF8
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.47 FGF8
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.47 CHD8 FGF8 PROKR2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.47 FGF8
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.47 CHD8
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.47 PROKR2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.47 PROKR2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.47 PROKR2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.47 PROKR2

MGI Mouse Phenotypes related to Charge Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 CHD7 CHD8 FGF8 FGFR1 PAX2 PROKR2
2 digestive/alimentary MP:0005381 10.07 CHD7 CHD8 FGF8 FGFR1 FOXE1 PTK6
3 embryo MP:0005380 9.97 CHD7 CHD8 FGF8 FGFR1 PAX2 SEMA3E
4 endocrine/exocrine gland MP:0005379 9.96 CHD7 FGF8 FGFR1 FOXE1 PAX2 PROKR2
5 craniofacial MP:0005382 9.95 CHD7 FGF8 FGFR1 FOXE1 SMARCA4 SOX11
6 nervous system MP:0003631 9.93 CHD7 CHD8 FGF8 FGFR1 PAX2 PROK2
7 renal/urinary system MP:0005367 9.56 FGF8 FGFR1 PAX2 PTK6 SEMA3A SMARCA2
8 vision/eye MP:0005391 9.28 CDH7 CHD7 FGF8 FGFR1 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
2 French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH Completed NCT01314534

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:

40
Heart, Bone, Eye, Retina, Kidney, T Cells, Brain

Publications for Charge Syndrome

Articles related to Charge Syndrome:

(show top 50) (show all 770)
# Title Authors PMID Year
1
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features. 61 24 56 6
18978652 2008
2
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. 61 24 56 6
18074359 2008
3
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. 61 24 56 6
17661815 2007
4
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. 61 24 56 6
16155193 2006
5
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. 61 24 56 6
16400610 2006
6
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 61 24 56 6
15300250 2004
7
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 61 56 6
18834967 2008
8
Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype. 61 56 6
17937444 2007
9
An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome. 61 56 6
17334995 2007
10
SEMA3E mutation in a patient with CHARGE syndrome. 61 56 6
15235037 2004
11
Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. 61 24 56
18472328 2008
12
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. 61 24 56
18445044 2008
13
Immunological abnormalities in CHARGE syndrome. 61 24 56
17684005 2007
14
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. 61 24 56
16169932 2006
15
An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. 61 24 56
15637722 2005
16
Updated diagnostic criteria for CHARGE syndrome: a proposal. 61 24 56
15666308 2005
17
Hypogonadism and CHARGE association. 61 24 56
10995509 2000
18
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. 61 24 56
10869107 2000
19
CHARGE syndrome: report of 47 cases and review. 61 24 56
9556299 1998
20
Balanced t(6;8)(6p8p;6q8q) and the CHARGE association. 61 24 56
1999835 1991
21
Who's in CHARGE? Multidisciplinary management of patients with CHARGE association. 61 24 56
2317068 1990
22
CHARGE syndrome. Part I. External ear anomalies. 61 24 56
3570680 1986
23
The spectrum of clinical features in CHARGE syndrome. 61 24 56
2424647 1986
24
Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome. 61 56
26670829 2015
25
Inappropriate p53 activation during development induces features of CHARGE syndrome. 61 56
25119037 2014
26
CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. 61 56
21554267 2012
27
Clinical utility gene card for: CHARGE syndrome. 61 6
21407266 2011
28
CHD7 cooperates with PBAF to control multipotent neural crest formation. 61 56
20130577 2010
29
Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. 61 56
19279158 2009
30
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. 61 56
19021638 2009
31
Cranial nerve manifestations in CHARGE syndrome. 61 56
18241060 2008
32
CHARGE Syndrome 61 6
20301296 2006
33
CHARGE syndrome: relations between behavioral characteristics and medical conditions. 61 56
16532469 2006
34
Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. 61 56
16207732 2005
35
CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11). 61 56
11241468 2001
36
CHARGE Association in newborns: a registry-based study. 61 56
10590394 1999
37
Deletion in chromosome region 22q11 in a child with CHARGE association. 61 56
9660062 1998
38
Epidemiology of choanal atresia with special reference to the CHARGE association. 61 56
9041289 1997
39
Increased paternal age in CHARGE association. 61 56
9147897 1996
40
Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism. 61 56
8818446 1996
41
CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3). 61 56
7573139 1995
42
Congenital heart disease in CHARGE association. 61 56
8469635 1993
43
Agonadism in a 46,XY patient with CHARGE association. 61 56
1308372 1992
44
Central nervous system malformations in the CHARGE association. 61 56
2260555 1990
45
The CHARGE association. 61 56
2213850 1990
46
Limb anomalies in the CHARGE association. 61 56
2468773 1989
47
CHARGE-association with pulmonary stenosis. 61 56
3207026 1988
48
A reappraisal of the CHARGE association. 61 56
3351900 1988
49
Spectrum of congenital heart disease in CHARGE association. 61 56
3559808 1987
50
Familial CHARGE syndrome: clinical report with autopsy findings. 61 56
3565473 1987

Variations for Charge Syndrome

ClinVar genetic disease variations for Charge Syndrome:

6 (show top 50) (show all 545) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHD7 NM_017780.4(CHD7):c.1246G>T (p.Gly416Ter)SNV Pathogenic 158278 rs587783428 8:61655237-61655237 8:60742678-60742678
2 CHD7 NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)SNV Pathogenic 158279 rs587783429 8:61655471-61655471 8:60742912-60742912
3 CHD7 NM_017780.4(CHD7):c.2613+1G>ASNV Pathogenic 158283 rs587783432 8:61729061-61729061 8:60816502-60816502
4 CHD7 NM_017780.4(CHD7):c.2643T>G (p.Tyr881Ter)SNV Pathogenic 158284 rs587783433 8:61732595-61732595 8:60820036-60820036
5 CHD7 NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter)SNV Pathogenic 158285 rs587783434 8:61734466-61734466 8:60821907-60821907
6 CHD7 NM_017780.4(CHD7):c.187_190CAAA[1] (p.Thr64fs)short repeat Pathogenic 158281 rs587783431 8:61654178-61654181 8:60741619-60741622
7 CHD7 NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs)deletion Pathogenic 158287 rs587783436 8:61734652-61734653 8:60822093-60822094
8 CHD7 NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter)SNV Pathogenic 158294 rs587783440 8:61750359-61750359 8:60837800-60837800
9 CHD7 NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter)SNV Pathogenic 158296 rs587783442 8:61750761-61750761 8:60838202-60838202
10 CHD7 NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter)SNV Pathogenic 158302 rs587783446 8:61763105-61763105 8:60850546-60850546
11 CHD7 NM_017780.4(CHD7):c.5551G>T (p.Glu1851Ter)SNV Pathogenic 158303 rs587783447 8:61763607-61763607 8:60851048-60851048
12 CHD7 NM_017780.4(CHD7):c.5666-2A>CSNV Pathogenic 158304 rs587783448 8:61764576-61764576 8:60852017-60852017
13 CHD7 NM_017780.4(CHD7):c.4634del (p.Ala1544_Leu1545insTer)deletion Pathogenic 158298 rs587783443 8:61754302-61754302 8:60841743-60841743
14 CHD7 NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter)SNV Pathogenic 158307 rs587783450 8:61765441-61765441 8:60852882-60852882
15 CHD7 NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter)SNV Pathogenic 158313 rs587783454 8:61766996-61766996 8:60854437-60854437
16 CHD7 NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter)SNV Pathogenic 158314 rs587783455 8:61769091-61769091 8:60856532-60856532
17 CHD7 NM_017780.4(CHD7):c.7380_7383TCTT[1] (p.Ser2462fs)short repeat Pathogenic 158316 rs587783456 8:61769219-61769222 8:60856660-60856663
18 CHD7 NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter)SNV Pathogenic 158320 rs587783457 8:61774815-61774815 8:60862256-60862256
19 CHD7 NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter)SNV Pathogenic 158321 rs587783458 8:61774881-61774881 8:60862322-60862322
20 CHD7 NM_017780.4(CHD7):c.8055G>A (p.Trp2685Ter)SNV Pathogenic 158322 rs587783459 8:61775190-61775190 8:60862631-60862631
21 CHD7 NM_017780.4(CHD7):c.1488dup (p.Pro497fs)duplication Pathogenic 188297 rs786204200 8:61655478-61655479 8:60742919-60742920
22 CHD7 NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)SNV Pathogenic 195321 rs794727293 8:61654460-61654460 8:60741901-60741901
23 CHD7 NM_017780.4(CHD7):c.6995G>A (p.Trp2332Ter)SNV Pathogenic 196870 rs794727569 8:61768592-61768592 8:60856033-60856033
24 CHD7 NM_017780.4(CHD7):c.1678dup (p.Glu560fs)duplication Pathogenic 210712 rs797045461 8:61693569-61693570 8:60781010-60781011
25 CHD7 NM_017780.4(CHD7):c.2502_2509dup (p.His837fs)duplication Pathogenic 210714 rs797045463 8:61728946-61728947 8:60816387-60816388
26 CHD7 NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter)duplication Pathogenic 210716 rs797045465 8:61732593-61732594 8:60820034-60820035
27 CHD7 NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter)SNV Pathogenic 210719 rs797045467 8:61757595-61757595 8:60845036-60845036
28 CHD7 NM_017780.4(CHD7):c.6446del (p.Gly2149fs)deletion Pathogenic 210722 rs797045470 8:61765729-61765729 8:60853170-60853170
29 CHD7 NM_017780.4(CHD7):c.6526del (p.Glu2176fs)deletion Pathogenic 210723 rs797045471 8:61765809-61765809 8:60853250-60853250
30 CHD7 NM_017780.4(CHD7):c.6825dup (p.Met2276fs)duplication Pathogenic 210724 rs797045472 8:61766969-61766970 8:60854410-60854411
31 CHD7 NM_017780.4(CHD7):c.7940_7941dup (p.Pro2648fs)duplication Pathogenic 210726 rs797045473 8:61774862-61774863 8:60862303-60862304
32 CHD7 NM_017780.4(CHD7):c.1505del (p.Pro502fs)deletion Pathogenic 216115 rs863224517 8:61655495-61655495 8:60742936-60742936
33 CHD7 NM_017780.4(CHD7):c.3678del (p.Phe1226fs)deletion Pathogenic 216116 rs863224518 8:61743036-61743036 8:60830477-60830477
34 CHD7 NM_017780.4(CHD7):c.7663del (p.Arg2555fs)deletion Pathogenic 216875 rs863224843 8:61773516-61773516 8:60860957-60860957
35 CHD7 NM_017780.4(CHD7):c.5199dup (p.His1734fs)duplication Pathogenic 216901 rs863224856 8:61757956-61757957 8:60845397-60845398
36 CHD7 deletion Pathogenic 218417 8:61716600-61721089 8:60804042-60808531
37 CHD7 NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter)SNV Pathogenic 226115 rs875989879 8:61765576-61765576 8:60853017-60853017
38 CHD7 NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val)SNV Pathogenic 2022 rs121434338 8:61735186-61735186 8:60822627-60822627
39 CHD7 NM_017780.4(CHD7):c.3770T>G (p.Leu1257Arg)SNV Pathogenic 2023 rs121434339 8:61743128-61743128 8:60830569-60830569
40 CHD7 NM_017780.4(CHD7):c.5418C>G (p.Tyr1806Ter)SNV Pathogenic 2024 rs121434340 8:61763065-61763065 8:60850506-60850506
41 CHD7 NM_017780.4(CHD7):c.6955C>A (p.Arg2319Ser)SNV Pathogenic 2027 rs121434341 8:61768552-61768552 8:60855993-60855993
42 CHD7 NM_017780.4(CHD7):c.3811G>T (p.Glu1271Ter)SNV Pathogenic 2028 rs121434342 8:61748664-61748664 8:60836105-60836105
43 CHD7 NM_017780.4(CHD7):c.5752dup (p.Thr1918fs)duplication Pathogenic 2029 rs786200873 8:61764663-61764664 8:60852104-60852105
44 CHD7 CHD7, DEL EXONS 8-12deletion Pathogenic 2031
45 CHD7 NM_017780.4(CHD7):c.6322G>A (p.Gly2108Arg)SNV Pathogenic 2032 rs121434343 8:61765606-61765606 8:60853047-60853047
46 CHD7 NM_017780.4(CHD7):c.2501C>T (p.Ser834Phe)SNV Pathogenic 2033 rs121434344 8:61728948-61728948 8:60816389-60816389
47 CHD7 NM_017780.4(CHD7):c.2442+5G>CSNV Pathogenic 2034 rs387906271 8:61714157-61714157 8:60801598-60801598
48 CHD7 NM_017780.4(CHD7):c.8682_8683insT (p.Leu2895fs)insertion Pathogenic 2037 rs1563674576 8:61778180-61778181 8:60865621-60865622
49 CHD7 NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter)SNV Pathogenic 2038 rs267606724 8:61754556-61754556 8:60841997-60841997
50 SEMA3E NM_012431.3(SEMA3E):c.2108C>T (p.Ser703Leu)SNV Pathogenic 2505 rs121918341 7:82997122-82997122 7:83367806-83367806

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

73 (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 rs155460246
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

Copy number variations for Charge Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 241347 8 61753892 61942021 Deletion or duplication 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
Show member pathways
12.55 TNFRSF1A SEMA3A FGFR1 FGF8 CDH7 CDH20
2 12.02 SMARCA4 CDH7 CDH20 CDH19
3 11.86 SMARCA4 SMARCA2 CHD8 CHD7
4 11.67 CDH7 CDH20 CDH19
5 11.55 FGFR1 FGF8 CDH7
6 10.82 SMARCA4 PAX2 FGFR1 FGF8
7 10.56 SEMA3A FGFR1 FGF8 CDH7 CDH19

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 SWI/SNF complex GO:0016514 9.16 SMARCA4 SMARCA2
2 nBAF complex GO:0071565 8.96 SMARCA4 SMARCA2
3 npBAF complex GO:0071564 8.62 SMARCA4 SMARCA2

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.97 SMARCA4 SMARCA2 PAX2 FOXE1 CHD8
2 positive regulation of cell proliferation GO:0008284 9.96 SOX11 PROK2 PAX2 FGFR1 FGF8
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.95 TNFRSF1A SOX11 SMARCA4 SMARCA2 PAX2 CHD8
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.93 SOX11 SMARCA4 SMARCA2 FOXE1 FGFR1 CHD8
5 nervous system development GO:0007399 9.92 SOX11 SMARCA4 SMARCA2 SEMA3E SEMA3A
6 chromatin remodeling GO:0006338 9.76 SMARCA4 SMARCA2 CHD7
7 positive regulation of transcription, DNA-templated GO:0045893 9.73 SOX11 SMARCA4 SMARCA2 PAX2 FOXE1 CHD8
8 cell differentiation GO:0030154 9.7 SOX11 SEMA3E SEMA3A PTK6 PAX2 FOXE1
9 fibroblast growth factor receptor signaling pathway GO:0008543 9.65 FGFR1 FGF8 ANOS1
10 lung morphogenesis GO:0060425 9.61 SOX11 FGF8
11 olfactory bulb development GO:0021772 9.6 SEMA3A CHD7
12 sympathetic nervous system development GO:0048485 9.59 SOX11 SEMA3A
13 aorta morphogenesis GO:0035909 9.57 FGF8 CHD7
14 generation of neurons GO:0048699 9.55 FGFR1 FGF8
15 mesonephros development GO:0001823 9.54 PAX2 FGF8
16 branching involved in salivary gland morphogenesis GO:0060445 9.51 FGFR1 FGF8
17 organ induction GO:0001759 9.49 FGFR1 FGF8
18 neuroepithelial cell differentiation GO:0060563 9.43 SOX11 FGF8
19 hard palate development GO:0060022 9.37 SOX11 FOXE1
20 soft palate development GO:0060023 9.32 SOX11 FOXE1
21 ATP-dependent chromatin remodeling GO:0043044 9.13 SMARCA4 SMARCA2 CHD8
22 inner ear morphogenesis GO:0042472 8.92 PAX2 FGFR1 FGF8 CHD7

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

# Name GO ID Score Top Affiliating Genes
1 DNA-dependent ATPase activity GO:0008094 9.33 SMARCA4 SMARCA2 CHD8
2 helicase activity GO:0004386 9.26 SMARCA4 SMARCA2 CHD8 CHD7
3 hydrolase activity, acting on acid anhydrides GO:0016817 8.92 SMARCA4 SMARCA2 CHD8 CHD7

Sources for Charge Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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