CHARGES
MCID: CHR103
MIFTS: 67

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 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 choanal atresia, posterior and coloboma of macula. An important gene associated with Charge Syndrome is CHD7 (Chromodomain Helicase DNA Binding Protein 7), and among its related pathways/superpathways are ERK Signaling and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include heart, retina 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 1093)
# Related Disease Score Top Affiliating Genes
1 choanal atresia, posterior 31.7 PROKR2 FOXE1 FGFR1 FGF8 CHD7 CDH7
2 coloboma of macula 31.7 SOX11 SEMA3E PUF60 PROKR2 PAX2 FGFR1
3 hypogonadism 31.3 SEMA3A PROKR2 FGFR1 FGF8 CHD7 ANOS1
4 sensorineural hearing loss 31.2 PROKR2 PAX2 FGFR1 FGF8 CHD7 ANOS1
5 hypogonadotropic hypogonadism 31.1 SEMA3A PROKR2 FGFR1 FGF8 CHD7 ANOS1
6 kallmann syndrome 31.1 SEMA3E SEMA3A PROKR2 PAX2 FGFR1 FGF8
7 cryptorchidism, unilateral or bilateral 31.0 PROKR2 FGFR1 FGF8 CHD7 ANOS1
8 congenital hypogonadotropic hypogonadism 30.4 FGFR1 FGF8 CHD7 ANOS1
9 hypogonadotropic hypogonadism 7 with or without anosmia 30.4 SEMA3E PROKR2 FGFR1 ANOS1
10 normosmic congenital hypogonadotropic hypogonadism 30.4 PROKR2 FGFR1 FGF8 CHD7 ANOS1
11 vesicoureteral reflux 1 30.3 PAX2 FGF8 CHD7
12 septooptic dysplasia 30.3 PROKR2 FGFR1 FGF8 ANOS1
13 renal hypodysplasia/aplasia 1 30.2 PROKR2 PAX2 FGFR1 FGF8 ANOS1
14 physical disorder 30.1 FOXE1 FGF8 CHD7
15 tumoral calcinosis, hyperphosphatemic, familial, 1 12.0
16 hypotrichosis 1 12.0
17 hemochromatosis, type 1 11.8
18 dyskeratosis congenita, x-linked 11.8
19 heart-hand syndrome, slovenian type 11.7
20 tibial hemimelia 11.5
21 hypogonadotropic hypogonadism 15 with or without anosmia 11.4
22 hypothalamic hamartomas 11.3
23 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 11.3
24 inclusion body myositis 11.3
25 gitelman syndrome 11.3
26 dyskeratosis congenita, autosomal dominant 1 11.2
27 hypogonadotropic hypogonadism 2 with or without anosmia 11.2
28 dyskeratosis congenita, autosomal recessive 5 11.2
29 hoyeraal hreidarsson syndrome 11.2
30 burn-mckeown syndrome 11.2
31 8q12 microduplication syndrome 11.2
32 hyperinsulinemic hypoglycemia, familial, 6 11.2
33 hypotrichosis simplex 11.2
34 antiphospholipid syndrome, familial 11.1
35 ocular dominance 11.1
36 scott syndrome 11.1
37 familial periodic paralysis 11.1
38 laryngeal cleft 11.1
39 hypogonadotropic hypogonadism 3 with or without anosmia 11.0
40 hypogonadotropic hypogonadism 4 with or without anosmia 11.0
41 hypogonadotropic hypogonadism 6 with or without anosmia 11.0
42 hypogonadotropic hypogonadism 8 with or without anosmia 11.0
43 hypogonadotropic hypogonadism 9 with or without anosmia 11.0
44 hypogonadotropic hypogonadism 10 with or without anosmia 11.0
45 hypogonadotropic hypogonadism 11 with or without anosmia 11.0
46 hypogonadotropic hypogonadism 12 with or without anosmia 11.0
47 hypogonadotropic hypogonadism 13 with or without anosmia 11.0
48 hypogonadotropic hypogonadism 14 with or without anosmia 11.0
49 hypogonadotropic hypogonadism 16 with or without anosmia 11.0
50 hypogonadotropic hypogonadism 17 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 133)
# 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 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
4 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
5 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
6 external ear malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008572
7 micropenis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000054
8 overfolded helix 58 31 hallmark (90%) Very frequent (99-80%) HP:0000396
9 anosmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000458
10 iris coloboma 58 31 very rare (1%) Very frequent (99-80%) HP:0000612
11 aplasia/hypoplasia of the earlobes 58 31 hallmark (90%) Very frequent (99-80%) HP:0009906
12 hypoplasia of the semicircular canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0011382
13 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
14 intellectual disability 58 31 very rare (1%) Frequent (79-30%) HP:0001249
15 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
16 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
17 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
18 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
19 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
20 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
21 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
22 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
23 abnormal aortic valve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001646
24 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
25 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
26 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
27 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
28 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
29 anterior hypopituitarism 58 31 frequent (33%) Frequent (79-30%) HP:0000830
30 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
31 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
32 bifid scrotum 58 31 frequent (33%) Frequent (79-30%) HP:0000048
33 labial hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000066
34 cleft upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0000204
35 facial asymmetry 58 31 very rare (1%) Frequent (79-30%) HP:0000324
36 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
37 choanal atresia 58 31 very rare (1%) Frequent (79-30%) HP:0000453
38 anophthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000528
39 chorioretinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000567
40 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
41 obsessive-compulsive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000722
42 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
43 tetralogy of fallot 58 31 frequent (33%) Frequent (79-30%) HP:0001636
44 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
45 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
46 facial palsy 58 31 very rare (1%) Frequent (79-30%) HP:0010628
47 interrupted aortic arch 58 31 frequent (33%) Frequent (79-30%) HP:0011611
48 dimple chin 31 frequent (33%) HP:0010751
49 aortic arch aneurysm 31 frequent (33%) HP:0005113
50 abnormal morphology of female internal genitalia 31 frequent (33%) HP:0000008

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ptosis
anophthalmia
microphthalmia
downslanting palpebral fissures
more
Head And Neck Head:
microcephaly

Neurologic Peripheral Nervous System:
dysphagia
facial palsy
cranial nerve anomalies

Abdomen Gastrointestinal:
tracheoesophageal fistula
anal atresia
esophageal atresia
anal stenosis
duodenal atresia
more
Growth Other:
postnatal growth retardation

Genitourinary Kidneys:
horseshoe kidney
hydronephrosis

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

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

Laboratory Abnormalities:
hypocalcemia

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)

Abdomen External Features:
umbilical hernia
omphalocele

Endocrine Features:
hypothyroidism
growth hormone deficiency
gonadotropin deficiency
parathyroid hypoplasia

Head And Neck Mouth:
cleft palate
cleft lip

Genitourinary Internal Genitalia Male:
cryptorchidism

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

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

Genitourinary External Genitalia Male:
micropenis

Cardiovascular Vascular:
patent ductus arteriosus

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 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-112 10.02 CHD8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-117 10.02 CHD8
3 Increased shRNA abundance (Z-score > 2) GR00366-A-128 10.02 FGF8
4 Increased shRNA abundance (Z-score > 2) GR00366-A-134 10.02 CHD8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.02 FGF8
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.02 FGF8
7 Increased shRNA abundance (Z-score > 2) GR00366-A-155 10.02 PROKR2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.02 FGF8
9 Increased shRNA abundance (Z-score > 2) GR00366-A-187 10.02 PROKR2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.02 CHD8
11 Increased shRNA abundance (Z-score > 2) GR00366-A-205 10.02 FGF8
12 Increased shRNA abundance (Z-score > 2) GR00366-A-210 10.02 CHD8
13 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.02 PROKR2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-24 10.02 PROKR2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.02 FGF8
16 Increased shRNA abundance (Z-score > 2) GR00366-A-33 10.02 PROKR2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.02 FGF8
18 Increased shRNA abundance (Z-score > 2) GR00366-A-48 10.02 PROKR2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.02 CHD8
20 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.02 FGF8
21 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.02 PROKR2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.02 FGF8
23 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.02 PROKR2
24 Reduced shRNA abundance in FBW7 KO line GR00369-A 8.8 CDH19 PUF60 RERE

MGI Mouse Phenotypes related to Charge Syndrome:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.26 CHD7 EP300 FGF8 FGFR1 KMT2D PAX2
2 cellular MP:0005384 10.25 CHD7 CHD8 EP300 FGF8 FGFR1 KMT2D
3 embryo MP:0005380 10.2 CHD7 CHD8 EP300 FGF8 FGFR1 KMT2D
4 growth/size/body region MP:0005378 10.18 CHD7 CHD8 EP300 FGF8 FGFR1 FOXE1
5 endocrine/exocrine gland MP:0005379 10.17 CHD7 EP300 FAM172A FGF8 FGFR1 FOXE1
6 craniofacial MP:0005382 10.15 CHD7 EP300 FGF8 FGFR1 FOXE1 KMT2D
7 mortality/aging MP:0010768 10.13 CHD7 CHD8 EP300 FGF8 FGFR1 FOXE1
8 digestive/alimentary MP:0005381 10.08 CHD7 CHD8 EP300 FGF8 FGFR1 FOXE1
9 nervous system MP:0003631 10.07 CHD7 CHD8 EP300 FGF8 FGFR1 KMT2D
10 hearing/vestibular/ear MP:0005377 9.85 CHD7 FGF8 FGFR1 KMT2D PAX2 RERE
11 renal/urinary system MP:0005367 9.7 EP300 FGF8 FGFR1 PAX2 RERE SEMA3A
12 respiratory system MP:0005388 9.5 CHD7 EP300 FGF8 KMT2D SEMA3A SOX11
13 vision/eye MP:0005391 9.32 CDH7 CHD7 EP300 FGF8 FGFR1 PAX2

Drugs & Therapeutics for Charge Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Study of CHARGE Syndrom Completed NCT03186144
2 French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH Completed NCT01314534

Search NIH Clinical Center for 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, Retina, Eye, Bone, Kidney, Brain, Testes

Publications for Charge Syndrome

Articles related to Charge Syndrome:

(show top 50) (show all 791)
# Title Authors PMID Year
1
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features. 6 56 24 61
18978652 2008
2
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. 56 6 61 24
18074359 2008
3
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. 24 6 56 61
17661815 2007
4
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. 24 61 6 56
16155193 2006
5
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. 61 56 24 6
16400610 2006
6
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 6 56 24 61
15300250 2004
7
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 61 6 56
18834967 2008
8
Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype. 56 6 61
17937444 2007
9
An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome. 61 6 56
17334995 2007
10
SEMA3E mutation in a patient with CHARGE syndrome. 6 56 61
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. 56 61 24
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
Updated diagnostic criteria for CHARGE syndrome: a proposal. 61 56 24
15666308 2005
16
An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. 24 56 61
15637722 2005
17
Hypogonadism and CHARGE association. 61 56 24
10995509 2000
18
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. 56 24 61
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 56 24
1999835 1991
21
Who's in CHARGE? Multidisciplinary management of patients with CHARGE association. 56 24 61
2317068 1990
22
CHARGE syndrome. Part I. External ear anomalies. 61 56 24
3570680 1986
23
The spectrum of clinical features in CHARGE syndrome. 24 61 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. 56 61
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. 6 61
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. 56 61
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. 56 61
16532469 2006
34
Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. 56 61
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). 56 61
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. 56 61
9041289 1997
39
Increased paternal age in CHARGE association. 56 61
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. 56 61
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. 56 61
2468773 1989
47
CHARGE-association with pulmonary stenosis. 61 56
3207026 1988
48
A reappraisal of the CHARGE association. 56 61
3351900 1988
49
Spectrum of congenital heart disease in CHARGE association. 56 61
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 760) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHD7 NM_017780.4(CHD7):c.1058del (p.Phe353fs)deletion Pathogenic 411185 rs1060503184 8:61655048-61655048 8:60742489-60742489
2 CHD7 NM_017780.4(CHD7):c.3093G>C (p.Trp1031Cys)SNV Pathogenic 411188 rs1060503187 8:61735197-61735197 8:60822638-60822638
3 CHD7 NM_017780.4(CHD7):c.3202-3T>GSNV Pathogenic 411184 rs1060503183 8:61736396-61736396 8:60823837-60823837
4 CHD7 NM_017780.4(CHD7):c.6292del (p.Arg2098fs)deletion Pathogenic 403716 rs1060499560 8:61765575-61765575 8:60853016-60853016
5 CHD7 NM_017780.4(CHD7):c.2097-1G>CSNV Pathogenic 411182 rs1060503182 8:61707544-61707544 8:60794985-60794985
6 CHD7 NM_017780.4(CHD7):c.5211-1G>CSNV Pathogenic 411179 rs1060503180 8:61761073-61761073 8:60848514-60848514
7 CHD7 NM_017780.4(CHD7):c.6161_6162CT[1] (p.Leu2055fs)short repeat Pathogenic 411186 rs1060503185 8:61765445-61765446 8:60852886-60852887
8 CHD7 NM_017780.4(CHD7):c.7312C>T (p.Gln2438Ter)SNV Pathogenic 411190 rs1060503188 8:61769151-61769151 8:60856592-60856592
9 CHD7 NM_017780.4(CHD7):c.2568del (p.Lys857fs)deletion Pathogenic 411180 rs1060503181 8:61729014-61729014 8:60816455-60816455
10 CHD7 NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter)SNV Pathogenic 418655 rs1064793346 8:61774803-61774803 8:60862244-60862244
11 KMT2D NM_003482.3(KMT2D):c.9602dup (p.Ser3202fs)duplication Pathogenic 424021 rs1555190375 12:49431536-49431537 12:49037753-49037754
12 CHD7 NM_017780.4(CHD7):c.5405-18C>ASNV Pathogenic 428609 rs199981784 8:61763034-61763034 8:60850475-60850475
13 CHD7 NM_017780.4(CHD7):c.5405-13G>ASNV Pathogenic 428610 rs1131690787 8:61763039-61763039 8:60850480-60850480
14 CHD7 NM_017780.4(CHD7):c.6114_6120del (p.Leu2039fs)deletion Pathogenic 429504 rs1131691420 8:61765398-61765404 8:60852839-60852845
15 CHD7 NM_017780.4(CHD7):c.5405-2A>GSNV Pathogenic 430832 rs1131692153 8:61763050-61763050 8:60850491-60850491
16 CHD7 NM_017780.4(CHD7):c.5706C>G (p.Tyr1902Ter)SNV Pathogenic 431034 rs1131692325 8:61764618-61764618 8:60852059-60852059
17 RERE NM_001042681.2(RERE):c.4307_4312TCCACC[3] (p.1436_1437LH[3])short repeat Pathogenic 418456 rs1064793252 1:8418276-8418277 1:8358216-8358217
18 CHD7 NM_017780.4(CHD7):c.2990del (p.Leu997fs)deletion Pathogenic 441170 rs1554597677 8:61735092-61735092 8:60822533-60822533
19 CHD7 NM_017780.4(CHD7):c.7165-4A>GSNV Pathogenic 444870 rs1554604915 8:61769000-61769000 8:60856441-60856441
20 CHD7 NM_017780.4(CHD7):c.3937del (p.Ser1313fs)deletion Pathogenic 459547 rs1554600538 8:61748787-61748787 8:60836228-60836228
21 CHD7 NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter)SNV Pathogenic 459542 rs780953224 8:61693628-61693628 8:60781069-60781069
22 CHD7 NM_017780.4(CHD7):c.3490C>T (p.Gln1164Ter)SNV Pathogenic 459546 rs1554599065 8:61741333-61741333 8:60828774-60828774
23 CHD7 NM_017780.4(CHD7):c.5101del (p.Gln1701fs)deletion Pathogenic 459549 rs1554602557 8:61757857-61757857 8:60845298-60845298
24 CHD7 NM_017780.4(CHD7):c.5238C>G (p.Tyr1746Ter)SNV Pathogenic 459551 rs1554603151 8:61761101-61761101 8:60848542-60848542
25 CHD7 NM_017780.4(CHD7):c.6841_6842insTA (p.Asp2281fs)insertion Pathogenic 459561 rs1554604441 8:61766987-61766988 8:60854428-60854429
26 CHD7 NM_017780.4(CHD7):c.6473C>A (p.Ser2158Ter)SNV Pathogenic 459559 rs376056567 8:61765757-61765757 8:60853198-60853198
27 CHD7 NM_017780.4(CHD7):c.8067del (p.Lys2690fs)deletion Pathogenic 459565 rs1554606375 8:61775201-61775201 8:60862642-60862642
28 CHD7 NM_017780.4(CHD7):c.2858G>A (p.Trp953Ter)SNV Pathogenic 488479 rs1554597465 8:61734605-61734605 8:60822046-60822046
29 CHD7 NM_017780.4(CHD7):c.5678_5679AG[3] (p.Ser1894fs)short repeat Pathogenic 488480 rs1554603818 8:61764588-61764589 8:60852029-60852030
30 CHD7 NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter)SNV Pathogenic 488373 rs1554597716 8:61735210-61735210 8:60822651-60822651
31 CHD7 NM_017780.4(CHD7):c.604C>T (p.Gln202Ter)SNV Pathogenic 459557 rs1554581277 8:61654595-61654595 8:60742036-60742036
32 CHD7 NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter)SNV Pathogenic 459555 rs1554603552 8:61763075-61763075 8:60850516-60850516
33 CHD7 NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter)SNV Pathogenic 488369 rs1554593049 8:61714150-61714150 8:60801591-60801591
34 CHD7 NM_017780.4(CHD7):c.6199C>T (p.Gln2067Ter)SNV Pathogenic 488803 rs766862122 8:61765483-61765483 8:60852924-60852924
35 CHD7 NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter)SNV Pathogenic 504190 rs748504264 8:61775158-61775158 8:60862599-60862599
36 CHD7 NM_017780.4(CHD7):c.7282C>T (p.Arg2428Ter)SNV Pathogenic 523619 rs1320897198 8:61769121-61769121 8:60856562-60856562
37 CHD7 NM_017780.4(CHD7):c.1803_1806del (p.Lys602fs)deletion Pathogenic 524142 rs1554588671 8:61693693-61693696 8:60781134-60781137
38 CHD7 NC_000008.11:g.(?_60741413)_(60865953_?)deldeletion Pathogenic 529154 8:61653972-61778512 8:60741413-60865953
39 CHD7 NM_017780.4(CHD7):c.478del (p.Tyr160fs)deletion Pathogenic 529127 rs1554581198 8:61654469-61654469 8:60741910-60741910
40 CHD7 NM_017780.4(CHD7):c.1312C>T (p.Gln438Ter)SNV Pathogenic 529121 rs1554581657 8:61655303-61655303 8:60742744-60742744
41 CHD7 NM_017780.4(CHD7):c.1925del (p.Lys642fs)deletion Pathogenic 529122 rs1554588712 8:61693812-61693812 8:60781253-60781253
42 CHD7 NM_017780.4(CHD7):c.7132G>T (p.Glu2378Ter)SNV Pathogenic 529132 rs878975068 8:61768729-61768729 8:60856170-60856170
43 CHD7 NM_017780.4(CHD7):c.1294del (p.His432fs)deletion Pathogenic 547190 rs1554581646 8:61655282-61655282 8:60742723-60742723
44 CHD7 NM_017780.4(CHD7):c.5210+3A>GSNV Pathogenic 547193 rs1554602588 8:61757971-61757971 8:60845412-60845412
45 CHD7 NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter)SNV Pathogenic 547195 rs1360515765 8:61765232-61765232 8:60852673-60852673
46 CHD7 NM_017780.4(CHD7):c.8744dup (p.Leu2916fs)duplication Pathogenic 547198 rs1554607313 8:61778236-61778237 8:60865677-60865678
47 CHD7 NM_017780.4(CHD7):c.3412C>T (p.Gln1138Ter)SNV Pathogenic 548946 rs1554599035 8:61741255-61741255 8:60828696-60828696
48 CHD7 NM_017780.4(CHD7):c.282del (p.Asn96fs)deletion Pathogenic 560976 rs1563559321 8:61654273-61654273 8:60741714-60741714
49 CHD7 NM_017780.4(CHD7):c.6473del (p.Ser2158fs)deletion Pathogenic 581030 rs1563660938 8:61765757-61765757 8:60853198-60853198
50 CHD7 NM_017780.4(CHD7):c.4494dup (p.Thr1499fs)duplication Pathogenic 572561 rs1563645417 8:61750773-61750774 8:60838214-60838215

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
13.28 TNFRSF1A SOX11 SEMA3A FGFR1 FGF8 EP300
2
Show member pathways
12.22 TNFRSF1A SEMA3A FGFR1 FGF8 CDH7 CDH20
3
Show member pathways
11.97 TNFRSF1A SEMA3A FGFR1 FGF8 EP300
4 11.67 CDH7 CDH20 CDH19
5 11.55 FGFR1 FGF8 CDH7
6 11.33 PAX2 FGFR1 FGF8
7 10.62 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 catenin complex GO:0016342 8.8 CDH7 CDH20 CDH19

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.16 SOX11 RERE PAX2 KMT2D FOXE1 EP300
2 cell differentiation GO:0030154 10.08 SOX11 SEMA3E SEMA3A PAX2 FOXE1 FGF8
3 positive regulation of transcription, DNA-templated GO:0045893 10 SOX11 PAX2 FOXE1 EP300 CHD8
4 positive regulation of transcription by RNA polymerase II GO:0045944 10 TNFRSF1A SOX11 PAX2 KMT2D EP300 CHD8
5 positive regulation of cell proliferation GO:0008284 9.96 SOX11 PAX2 KMT2D FGFR1 FGF8
6 cell morphogenesis GO:0000902 9.75 CDH7 CDH20 CDH19
7 lung development GO:0030324 9.74 FGFR1 FGF8 EP300
8 fibroblast growth factor receptor signaling pathway GO:0008543 9.67 FGFR1 FGF8 ANOS1
9 sympathetic nervous system development GO:0048485 9.59 SOX11 SEMA3A
10 aorta morphogenesis GO:0035909 9.58 FGF8 CHD7
11 generation of neurons GO:0048699 9.55 FGFR1 FGF8
12 mesonephros development GO:0001823 9.54 PAX2 FGF8
13 adherens junction organization GO:0034332 9.54 CDH7 CDH20 CDH19
14 branching involved in salivary gland morphogenesis GO:0060445 9.52 FGFR1 FGF8
15 organ induction GO:0001759 9.51 FGFR1 FGF8
16 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.5 CDH7 CDH20 CDH19
17 neuroepithelial cell differentiation GO:0060563 9.48 SOX11 FGF8
18 hard palate development GO:0060022 9.43 SOX11 FOXE1
19 cell-cell junction assembly GO:0007043 9.43 CDH7 CDH20 CDH19
20 soft palate development GO:0060023 9.4 SOX11 FOXE1
21 cell-cell adhesion via plasma-membrane adhesion molecules GO:0098742 9.33 CDH7 CDH20 CDH19
22 multicellular organism development GO:0007275 9.28 SOX11 SEMA3E SEMA3A RERE PAX2 FGFR1
23 inner ear morphogenesis GO:0042472 9.26 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 binding GO:0003677 9.61 SOX11 RERE PUF60 PAX2 KMT2D FOXE1
2 cadherin binding GO:0045296 9.56 PUF60 CDH7 CDH20 CDH19
3 transcription coactivator activity GO:0003713 9.46 SOX11 RERE KMT2D EP300
4 hydrolase activity, acting on acid anhydrides GO:0016817 8.62 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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