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
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Aliases & Classifications for Charge Syndrome

MalaCards integrated aliases for Charge Syndrome:

Name: Charge Syndrome 57 11 19 42 58 75 73 12 43 14 38 71
Charge Association 11 19 42 58 28 5
Hall-Hittner Syndrome 57 19 42 58
Coloboma-Heart Defects-Atresia Choanae-Retardation of Growth and Development-Genitourinary Problems-Ear Abnormalities Syndrome 58
Coloboma, Heart Anomaly, Choanal Atresia, Restriction of Growth and Development, Genital and Ear Anomalies 19
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies 57
Charges 73
Hhs 57

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

1-9/100000 (Canada, Europe) 58

Age Of Onset:

Neonatal 58

Age Of Death:

adolescent,late childhood 58

OMIM®:

57 (Updated 24-Oct-2022)
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


Classifications:

Orphanet: 58  
Rare neurological diseases
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

MedlinePlus Genetics: 42 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 Signal Transduction and Chromatin Regulation / Acetylation. Affiliated tissues include heart, eye and retina, and related phenotypes are hearing impairment and global developmental delay

GARD: 19 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 medical conditions. The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics. In more than half of all cases, genetic changes in the CHD7 gene cause CHARGE syndrome. When caused by a genetic change in the CHD7 gene, it can be inherited in an autosomal dominant pattern; although most cases result from new (de novo) genetic changes in the gene and occur in people with no history of the condition in their family.

Orphanet: 58 CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

OMIM®: 57 CHARGE syndrome is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina (summary by Kallen et al., 1999). (214800) (Updated 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.

Wikipedia: 75 CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder.... more...

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 755)
# Related Disease Score Top Affiliating Genes
1 choanal atresia, posterior 31.4 SEMA3E PROKR2 FGFR1 CHD7 CDH7 CDH20
2 coloboma of macula 31.2 SOX11 SEMA3E PUF60 PROKR2 PAX2 KMT2D
3 hypogonadism 31.1 SEMA3A PROKR2 FGFR1 CHD7 ANOS1
4 sensorineural hearing loss 31.0 SEMA3A PROKR2 PAX2 FGFR1 CHD7 ANOS1
5 hypogonadotropic hypogonadism 7 with or without anosmia 30.9 SEMA3E PROKR2 FGFR1 ANOS1
6 hypogonadotropic hypogonadism 30.9 SEMA3A PROKR2 FGFR1 CHD7 ANOS1
7 kallmann syndrome 30.8 SEMA3E SEMA3A PROKR2 FGFR1 CHD7 ANOS1
8 cryptorchidism, unilateral or bilateral 30.8 PROKR2 FGFR1 CHD7 ANOS1
9 kabuki syndrome 1 30.4 KMT2D KDM6A H2AC18 EP300 CHD8 CHD7
10 hypogonadotropic hypogonadism 1 with or without anosmia 30.2 PROKR2 FGFR1 ANOS1
11 normosmic congenital hypogonadotropic hypogonadism 30.2 PROKR2 FGFR1 CHD7
12 atrial heart septal defect 30.2 KMT2D H2AC18 CHD7
13 otopalatodigital syndrome, type i 30.1 H2AC18 EP300 CHD7
14 septooptic dysplasia 30.1 PROKR2 FGFR1 CHD7 ANOS1
15 chromosome 16p13.3 deletion syndrome, proximal 30.1 KMT2D KDM6A H2AC18 EP300 CHD7
16 renal hypodysplasia/aplasia 1 30.0 PROKR2 PAX2 FGFR1 CHD7 ANOS1
17 leukemia, acute myeloid 30.0 KMT2D KDM6A H2AC18 FGFR1 EP300 CDK9
18 coffin-siris syndrome 1 30.0 SOX11 KMT2D H2AC18 EP300
19 medulloblastoma 29.9 SOX11 PAX2 KMT2D KDM6A FGFR1 EP300
20 hypotrichosis 1 11.5
21 tumoral calcinosis, hyperphosphatemic, familial, 1 11.5
22 dyskeratosis congenita, x-linked 11.3
23 coloboma of iris 11.3
24 heart-hand syndrome, slovenian type 11.2
25 hypotrichosis simplex 11.2
26 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 11.2
27 dyskeratosis congenita, autosomal dominant 1 11.1
28 dyskeratosis congenita, autosomal recessive 5 11.1
29 tibial hemimelia 11.0
30 hyperinsulinemic hypoglycemia, familial, 6 10.9
31 tumoral calcinosis, hyperphosphatemic, familial, 2 10.9
32 tumoral calcinosis, hyperphosphatemic, familial, 3 10.9
33 neurodegeneration with brain iron accumulation 2a 10.6
34 chd7 disorder 10.5
35 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
36 human immunodeficiency virus type 1 10.4
37 autosomal dominant intellectual developmental disorder 10.4 SOX11 H2AC18 CHD8
38 coloboma, ocular, autosomal dominant 10.4
39 congenital ptosis 10.4 CHD8 CHD7 ANOS1
40 kleefstra syndrome 10.3 KMT2D KDM6A H2AC18 CHD8
41 nut midline carcinoma 10.3 H2AC18 EP300 CDK9
42 weaver syndrome 10.3 KMT2D KDM6A H2AC18 CHD8
43 bartholin's gland adenoid cystic carcinoma 10.3 KDM6A EP300
44 autosomal dominant intellectual developmental disorder 31 10.3 PAX2 KMT2D KDM6A EP300 CHD7
45 disorder of sexual development 10.3 PROKR2 H2AC18 CHD7 ANOS1
46 bladder urothelial carcinoma 10.3 KMT2D KDM6A FGFR1 EP300
47 tooth agenesis 10.3 KMT2D FGFR1 CHD7 ANOS1
48 sotos syndrome 10.3 KMT2D KDM6A H2AC18 CHD8 CHD7
49 bell's palsy 10.3
50 hypogonadotropic hypogonadism 23 with or without anosmia 10.3 PROKR2 ANOS1

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 30 (show top 50) (show all 149)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000365
2 global developmental delay 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001263
3 feeding difficulties in infancy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008872
4 delayed puberty 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000823
5 cryptorchidism 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000028
6 external ear malformation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008572
7 micropenis 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000054
8 overfolded helix 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000396
9 anosmia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000458
10 iris coloboma 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000612
11 aplasia/hypoplasia of the earlobes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009906
12 hypoplasia of the semicircular canal 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011382
13 hypogonadotropic hypogonadism 30 Hallmark (90%) HP:0000044
14 intellectual disability 58 30 Very rare (1%) Frequent (79-30%)
HP:0001249
15 ptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000508
16 nystagmus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000639
17 facial palsy 58 30 Very rare (1%) Frequent (79-30%)
HP:0010628
18 depressed nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0005280
19 optic atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000648
20 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
21 gastroesophageal reflux 58 30 Frequent (33%) Frequent (79-30%)
HP:0002020
22 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
23 cleft palate 58 30 Very rare (1%) Frequent (79-30%)
HP:0000175
24 abnormal aortic valve morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001646
25 autism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000717
26 attention deficit hyperactivity disorder 58 30 Frequent (33%) Frequent (79-30%)
HP:0007018
27 postnatal growth retardation 58 30 Very rare (1%) Frequent (79-30%)
HP:0008897
28 anterior hypopituitarism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000830
29 narrow face 58 30 Frequent (33%) Frequent (79-30%)
HP:0000275
30 narrow mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000160
31 abnormal morphology of female internal genitalia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000008
32 bifid scrotum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000048
33 labial hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000066
34 cleft upper lip 58 30 Frequent (33%) Frequent (79-30%)
HP:0000204
35 facial asymmetry 58 30 Very rare (1%) Frequent (79-30%)
HP:0000324
36 low-set, posteriorly rotated ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000368
37 choanal atresia 58 30 Very rare (1%) Frequent (79-30%)
HP:0000453
38 anophthalmia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000528
39 chorioretinal coloboma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000567
40 microphthalmia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000568
41 delayed eruption of teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000684
42 obsessive-compulsive behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0000722
43 polyhydramnios 58 30 Very rare (1%) Frequent (79-30%)
HP:0001561
44 tetralogy of fallot 58 30 Frequent (33%) Frequent (79-30%)
HP:0001636
45 patent ductus arteriosus 58 30 Very rare (1%) Frequent (79-30%)
HP:0001643
46 abnormal cardiac septum morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001671
47 interrupted aortic arch 58 30 Frequent (33%) Frequent (79-30%)
HP:0011611
48 hypotonia 30 Frequent (33%) HP:0001252
49 dimple chin 30 Frequent (33%) HP:0010751
50 aortic arch aneurysm 30 Frequent (33%) HP:0005113

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Eyes:
ptosis
hypertelorism
anophthalmia
microphthalmia
downslanting palpebral fissures
more
Endocrine Features:
hypothyroidism
growth hormone deficiency
gonadotropin deficiency
parathyroid hypoplasia

Head And Neck Head:
microcephaly

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

Abdomen Gastrointestinal:
anal atresia
tracheoesophageal fistula
esophageal atresia
anal stenosis
duodenal atresia
more
Head And Neck Nose:
anosmia
posterior choanal atresia (membranous and/or bony)

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)

Neurologic Peripheral Nervous System:
dysphagia
facial palsy
cranial nerve anomalies

Abdomen External Features:
umbilical hernia
omphalocele

Head And Neck Mouth:
cleft palate
cleft lip

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)

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 (Updated 24-Oct-2022)

MGI Mouse Phenotypes related to Charge Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.27 CHD7 CHD8 EP300 FGFR1 KDM6A KMT2D
2 embryo MP:0005380 10.18 CDK9 CHD7 CHD8 EP300 FGFR1 KDM6A
3 digestive/alimentary MP:0005381 10.02 CHD7 CHD8 EP300 FGFR1 KDM6A KMT2D
4 cellular MP:0005384 10 CHD7 CHD8 EP300 FGFR1 KDM6A KMT2D
5 cardiovascular system MP:0005385 9.93 CDK9 CHD7 EP300 FGFR1 KDM6A KMT2D
6 craniofacial MP:0005382 9.92 CHD7 EP300 FGFR1 KDM6A KMT2D RERE
7 hearing/vestibular/ear MP:0005377 9.91 CHD7 FAM172A FGFR1 KMT2D PAX2 RERE
8 respiratory system MP:0005388 9.5 CHD7 EP300 KDM6A KMT2D SEMA3A SOX11
9 mortality/aging MP:0010768 9.44 CDK9 CHD7 CHD8 EP300 FGFR1 KDM6A

Drugs & Therapeutics for Charge Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316

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

Anatomical Context for Charge Syndrome

Organs/tissues related to Charge Syndrome:

MalaCards : Heart, Eye, Retina, Trachea, Kidney, Testes, Brain
ODiseA: Respiratory System-Trachea, Blood And Bone Marrow, Respiratory System, Kidney

Publications for Charge Syndrome

Articles related to Charge Syndrome:

(show top 50) (show all 30892)
# Title Authors PMID Year
1
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. 62 57 5
19021638 2009
2
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 62 57 5
18834967 2008
3
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features. 62 57 5
18978652 2008
4
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. 62 57 5
18074359 2008
5
Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype. 62 57 5
17937444 2007
6
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. 62 57 5
17661815 2007
7
An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome. 62 57 5
17334995 2007
8
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. 62 57 5
16155193 2006
9
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. 62 57 5
16169932 2006
10
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. 62 57 5
16400610 2006
11
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 62 57 5
15300250 2004
12
SEMA3E mutation in a patient with CHARGE syndrome. 62 57 5
15235037 2004
13
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses. 62 5
33184947 2021
14
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. 62 5
29300383 2018
15
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. 62 5
29255276 2018
16
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. 62 5
29178447 2017
17
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. 62 5
27832265 2017
18
Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome. 62 5
27061523 2016
19
Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients. 62 5
26538304 2016
20
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. 62 5
26590800 2016
21
The Immune Phenotype of Patients with CHARGE Syndrome. 62 5
26563674 2016
22
Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome. 62 57
26670829 2015
23
Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study. 62 5
26544072 2015
24
Inappropriate p53 activation during development induces features of CHARGE syndrome. 62 57
25119037 2014
25
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 62 5
25077900 2014
26
Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome. 62 5
22462537 2013
27
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. 62 5
23024289 2012
28
Mutation update on the CHD7 gene involved in CHARGE syndrome. 62 5
22461308 2012
29
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. 62 5
22539353 2012
30
CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. 62 57
21554267 2012
31
Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis. 62 5
22033296 2012
32
Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome. 62 5
20884005 2011
33
CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. 62 5
21931733 2011
34
Mutations in the CHD7 gene: the experience of a commercial laboratory. 62 5
21158681 2010
35
Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. 62 5
21041284 2010
36
CHD7 cooperates with PBAF to control multipotent neural crest formation. 62 57
20130577 2010
37
Radial aplasia in CHARGE syndrome: a new association. 62 57
19375527 2009
38
Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. 62 57
19279158 2009
39
Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. 62 57
18472328 2008
40
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. 62 57
18445044 2008
41
Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. 62 5
18505430 2008
42
Cranial nerve manifestations in CHARGE syndrome. 62 57
18241060 2008
43
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. 62 5
18073582 2007
44
Immunological abnormalities in CHARGE syndrome. 62 57
17684005 2007
45
CHD7 Disorder 62 5
20301296 2006
46
CHARGE syndrome: relations between behavioral characteristics and medical conditions. 62 57
16532469 2006
47
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. 62 5
16615981 2006
48
Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. 62 57
16207732 2005
49
Updated diagnostic criteria for CHARGE syndrome: a proposal. 62 57
15666308 2005
50
An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. 62 57
15637722 2005

Variations for Charge Syndrome

ClinVar genetic disease variations for Charge Syndrome:

5 (show top 50) (show all 1760)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHD7 NM_017780.4(CHD7):c.5418C>G (p.Tyr1806Ter) SNV Pathogenic
2024 rs121434340 GRCh37: 8:61763065-61763065
GRCh38: 8:60850506-60850506
2 CHD7 NM_017780.4(CHD7):c.6955C>A (p.Arg2319Ser) SNV Pathogenic
Pathogenic
2027 rs121434341 GRCh37: 8:61768552-61768552
GRCh38: 8:60855993-60855993
3 CHD7 NM_017780.4(CHD7):c.3811G>T (p.Glu1271Ter) SNV Pathogenic
2028 rs121434342 GRCh37: 8:61748664-61748664
GRCh38: 8:60836105-60836105
4 CHD7 NM_017780.4(CHD7):c.5752dup (p.Thr1918fs) DUP Pathogenic
2029 rs786200873 GRCh37: 8:61764663-61764664
GRCh38: 8:60852104-60852105
5 CHD7 NM_017780.4(CHD7):c.6322G>A (p.Gly2108Arg) SNV Pathogenic
2032 rs121434343 GRCh37: 8:61765606-61765606
GRCh38: 8:60853047-60853047
6 CHD7 NM_017780.4(CHD7):c.2501C>T (p.Ser834Phe) SNV Pathogenic
2033 rs121434344 GRCh37: 8:61728948-61728948
GRCh38: 8:60816389-60816389
7 CHD7 NM_017780.4(CHD7):c.2442+5G>C SNV Pathogenic
2034 rs387906271 GRCh37: 8:61714157-61714157
GRCh38: 8:60801598-60801598
8 CHD7 NM_017780.4(CHD7):c.8682_8683insT (p.Leu2895fs) INSERT Pathogenic
2037 rs1563674576 GRCh37: 8:61778180-61778181
GRCh38: 8:60865621-60865622
9 CHD7 NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter) SNV Pathogenic
2038 rs267606724 GRCh37: 8:61754556-61754556
GRCh38: 8:60841997-60841997
10 CHD7 NM_017780.4(CHD7):c.1488dup (p.Pro497fs) DUP Pathogenic
188297 rs786204200 GRCh37: 8:61655478-61655479
GRCh38: 8:60742919-60742920
11 CHD7 NM_017780.4(CHD7):c.6995G>A (p.Trp2332Ter) SNV Pathogenic
196870 rs794727569 GRCh37: 8:61768592-61768592
GRCh38: 8:60856033-60856033
12 CHD7 NM_017780.4(CHD7):c.5199dup (p.His1734fs) DUP Pathogenic
216901 rs863224856 GRCh37: 8:61757956-61757957
GRCh38: 8:60845397-60845398
13 CHD7 NM_017780.4(CHD7):c.2442+2449_2498+259del DEL Pathogenic
218417 GRCh37: 8:61716600-61721089
GRCh38: 8:60804041-60808530
14 CHD7 NM_017780.4(CHD7):c.3811_3814del (p.Glu1271fs) DEL Pathogenic
267429 rs886040990 GRCh37: 8:61748661-61748664
GRCh38: 8:60836102-60836105
15 CHD7 NM_017780.4(CHD7):c.496C>T (p.Gln166Ter) SNV Pathogenic
267414 rs886040978 GRCh37: 8:61654487-61654487
GRCh38: 8:60741928-60741928
16 CHD7 NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs) DEL Pathogenic
267426 rs886040987 GRCh37: 8:61742929-61742930
GRCh38: 8:60830370-60830371
17 CHD7 NM_017780.4(CHD7):c.4837_4838del (p.Leu1613fs) DEL Pathogenic
267431 rs886040992 GRCh37: 8:61754597-61754598
GRCh38: 8:60842038-60842039
18 CHD7 NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) DUP Pathogenic
267438 rs886040998 GRCh37: 8:61773655-61773656
GRCh38: 8:60861096-60861097
19 CHD7 NM_017780.4(CHD7):c.3674dup (p.Asn1225fs) DUP Pathogenic
267428 rs886040989 GRCh37: 8:61743030-61743031
GRCh38: 8:60830471-60830472
20 CHD7 NM_017780.4(CHD7):c.8730_8731del (p.Pro2911fs) DEL Pathogenic
267441 rs886041000 GRCh37: 8:61778227-61778228
GRCh38: 8:60865668-60865669
21 CHD7 NM_017780.4(CHD7):c.3526C>T (p.Gln1176Ter) SNV Pathogenic
267425 rs886040986 GRCh37: 8:61742884-61742884
GRCh38: 8:60830325-60830325
22 CHD7 NM_017780.4(CHD7):c.1073del (p.Gly358fs) DEL Pathogenic
267417 rs886040980 GRCh37: 8:61655063-61655063
GRCh38: 8:60742504-60742504
23 CHD7 NM_017780.4(CHD7):c.3964del (p.Leu1322fs) DEL Pathogenic
252713 rs879255410 GRCh37: 8:61748817-61748817
GRCh38: 8:60836258-60836258
24 CHD7 NM_017780.4(CHD7):c.5235_5236dup (p.Tyr1746fs) DUP Pathogenic
267433 rs886040994 GRCh37: 8:61761096-61761097
GRCh38: 8:60848537-60848538
25 CHD7 NM_017780.4(CHD7):c.2215G>T (p.Glu739Ter) SNV Pathogenic
267419 rs886040981 GRCh37: 8:61707663-61707663
GRCh38: 8:60795104-60795104
26 CHD7 NM_017780.4(CHD7):c.7282dup (p.Arg2428fs) DUP Pathogenic
267437 rs886040997 GRCh37: 8:61769120-61769121
GRCh38: 8:60856561-60856562
27 CHD7 NM_017780.4(CHD7):c.3071dup (p.Leu1025fs) DUP Pathogenic
267422 rs886040984 GRCh37: 8:61735171-61735172
GRCh38: 8:60822612-60822613
28 CHD7 NM_017780.4(CHD7):c.3770T>G (p.Leu1257Arg) SNV Pathogenic
2023 rs121434339 GRCh37: 8:61743128-61743128
GRCh38: 8:60830569-60830569
29 CHD7 NM_017780.4(CHD7):c.1552C>T (p.Gln518Ter) SNV Pathogenic
375575 rs1057519423 GRCh37: 8:61655543-61655543
GRCh38: 8:60742984-60742984
30 CHD7 NM_017780.4(CHD7):c.6292del (p.Arg2098fs) DEL Pathogenic
403716 rs1060499560 GRCh37: 8:61765575-61765575
GRCh38: 8:60853016-60853016
31 CHD7 NM_017780.4(CHD7):c.5405-13G>A SNV Pathogenic
428610 rs1131690787 GRCh37: 8:61763039-61763039
GRCh38: 8:60850480-60850480
32 CHD7 NM_017780.4(CHD7):c.5405-18C>A SNV Pathogenic
428609 rs199981784 GRCh37: 8:61763034-61763034
GRCh38: 8:60850475-60850475
33 CHD7 NM_017780.4(CHD7):c.5405-2A>G SNV Pathogenic
430832 rs1131692153 GRCh37: 8:61763050-61763050
GRCh38: 8:60850491-60850491
34 CHD7 NM_017780.4(CHD7):c.5706C>G (p.Tyr1902Ter) SNV Pathogenic
431034 rs1131692325 GRCh37: 8:61764618-61764618
GRCh38: 8:60852059-60852059
35 CHD7 NM_017780.4(CHD7):c.604C>T (p.Gln202Ter) SNV Pathogenic
459557 rs1554581277 GRCh37: 8:61654595-61654595
GRCh38: 8:60742036-60742036
36 CHD7 NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) SNV Pathogenic
488373 rs1554597716 GRCh37: 8:61735210-61735210
GRCh38: 8:60822651-60822651
37 CHD7 NM_017780.4(CHD7):c.2858G>A (p.Trp953Ter) SNV Pathogenic
488479 rs1554597465 GRCh37: 8:61734605-61734605
GRCh38: 8:60822046-60822046
38 CHD7 NM_017780.4(CHD7):c.5680_5681dup (p.Ser1894fs) MICROSAT Pathogenic
488480 rs1554603818 GRCh37: 8:61764588-61764589
GRCh38: 8:60852029-60852030
39 CHD7 NM_017780.4(CHD7):c.2990del (p.Leu997fs) DEL Pathogenic
441170 rs1554597677 GRCh37: 8:61735092-61735092
GRCh38: 8:60822533-60822533
40 CHD7 NC_000008.11:g.(?_60741413)_(60865953_?)del DEL Pathogenic
529154 GRCh37: 8:61653972-61778512
GRCh38: 8:60741413-60865953
41 CHD7 NM_017780.4(CHD7):c.1294del (p.His432fs) DEL Pathogenic
547190 rs1554581646 GRCh37: 8:61655282-61655282
GRCh38: 8:60742723-60742723
42 CHD7 NM_017780.4(CHD7):c.8744dup (p.Leu2916fs) DUP Pathogenic
547198 rs1554607313 GRCh37: 8:61778236-61778237
GRCh38: 8:60865677-60865678
43 CHD7 NM_017780.4(CHD7):c.3412C>T (p.Gln1138Ter) SNV Pathogenic
548946 rs1554599035 GRCh37: 8:61741255-61741255
GRCh38: 8:60828696-60828696
44 CHD7 NM_017780.4(CHD7):c.7165-4A>G SNV Pathogenic
444870 rs1554604915 GRCh37: 8:61769000-61769000
GRCh38: 8:60856441-60856441
45 CHD7 NM_017780.4(CHD7):c.8076+1G>C SNV Pathogenic
598779 rs1563671108 GRCh37: 8:61775212-61775212
GRCh38: 8:60862653-60862653
46 CHD7 NM_017780.4(CHD7):c.1951_1952delinsT (p.Lys650_Lys651insTer) INDEL Pathogenic
619295 rs1563595095 GRCh37: 8:61693844-61693845
GRCh38: 8:60781285-60781286
47 CHD7 NM_017780.4(CHD7):c.7123del (p.Ser2375fs) DEL Pathogenic
620060 GRCh37: 8:61768720-61768720
GRCh38: 8:60856161-60856161
48 CHD7 NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter) SNV Pathogenic
95781 rs200220845 GRCh37: 8:61734586-61734586
GRCh38: 8:60822027-60822027
49 CHD7 NM_017780.4(CHD7):c.8015G>A (p.Trp2672Ter) SNV Pathogenic
625860 rs1563670964 GRCh37: 8:61775150-61775150
GRCh38: 8:60862591-60862591
50 CHD7 NM_017780.4(CHD7):c.3905T>C (p.Leu1302Pro) SNV Pathogenic
626915 rs1563643394 GRCh37: 8:61748758-61748758
GRCh38: 8:60836199-60836199

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 rs1057521077
11 CHD7 p.Gln1395His VAR_068129
12 CHD7 p.Gly1684Ser VAR_068134 rs1554602465
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 rs1586393556
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 rs1563643394
32 CHD7 p.Val1742Asp VAR_072964
33 CHD7 p.Gly2108Trp VAR_078703

Copy number variations for Charge Syndrome from CNVD:

6
# 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 13.02 TNFRSF1A PROKR2 KMT2D H2AC18 FGFR1 EP300
2 11.86 KDM6A EP300 CHD8 CHD7
3 10.49 SOX11 PAX2
4 10.34 SEMA3E PROKR2 FGFR1 CHD7 ANOS1

GO Terms for Charge Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.86 TNFRSF1A SOX11 PAX2 KMT2D EP300 CHD8
2 chromatin remodeling GO:0006338 9.76 RERE KDM6A CHD8 CHD7
3 chordate embryonic development GO:0043009 8.92 FGFR1 CHD7

Sources for Charge Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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