MCID: CHR103
MIFTS: 65

Charge Syndrome

Categories: Genetic diseases, Rare diseases, Ear diseases

Aliases & Classifications for Charge Syndrome

MalaCards integrated aliases for Charge Syndrome:

Name: Charge Syndrome 54 12 72 23 50 24 25 71 13 42 14 69
Charge Association 12 50 24 25 29
Hall-Hittner Syndrome 50 24 25
Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies 50 24
Charges 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype, even within families
many cases are sporadic, but somatic and germline mosaicism has been reported
charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities)
incidence ranges from 1 in 8,500 to 1 in 12,000 births


HPO:

32
charge syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

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

Classifications:



Summaries for Charge Syndrome

NIH Rare Diseases : 50 charge syndrome is a congenital condition (present from birth) that affects many areas of the body. charge stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), restricted growth and development, genital abnormality, and ear abnormality. signs and symptoms vary among people with this condition; however, infants often have multiple life-threatening medical conditions. the diagnosis of charge syndrome is based on a combination of major and minor characteristics. in more than half of all cases, mutations in the chd7 gene cause charge syndrome. when caused by a mutation in the chd7 gene, it can be inherited in an autosomal dominant pattern; although most cases result from new (de novo) mutations in the gene and occur in people with no history of the condition in their family. although there is no specific treatment or cure, there may be ways to manage the symptoms. a team of doctors is often needed to figure out the treatment options for each person. last updated: 2/16/2017

MalaCards based summary : Charge Syndrome, also known as charge association, is related to abruzzo-erickson syndrome and gitelman syndrome, and has symptoms including scoliosis, brachydactyly and optic atrophy. An important gene associated with Charge Syndrome is CHD7 (Chromodomain Helicase DNA Binding Protein 7), and among its related pathways/superpathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Dopaminergic Neurogenesis. The drugs Dopamine and rituximab have been mentioned in the context of this disorder. Affiliated tissues include heart, retina and eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and cellular

UniProtKB/Swiss-Prot : 71 CHARGE syndrome: Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.

Genetics Home Reference : 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.

OMIM : 54
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)

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

Wikipedia : 72 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 52)
id Related Disease Score Top Affiliating Genes
1 abruzzo-erickson syndrome 11.4
2 gitelman syndrome 10.9
3 tibial hemimelia 10.8
4 8q12 microduplication syndrome 10.8
5 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 10.8
6 omenn syndrome 10.8
7 ciliary body cancer 10.5 CHD7 FOXE1
8 encephalocraniocutaneous lipomatosis 10.3 FGF8 FGFR1
9 pelizaeus-merzbacher disease in female carriers 10.3 FGF8 FGFR1
10 duodenal atresia 10.3 CHD7 FOXE1
11 laryngotracheoesophageal cleft type 4 10.1 FGF8 FGFR1
12 torsion dystonia 13 10.1 FGF8 PAX2
13 capillary lymphangioma 10.0 ANOS1 PROK2 PROKR2
14 isolated facial myokymia 9.8 FGF8 FGFR1
15 anal spasm 9.8 OTX2 PAX2
16 digeorge syndrome 9.8
17 hypogonadism 9.7
18 kallmann syndrome 9.7
19 sleep apnea 9.7
20 obstructive sleep apnea 9.7
21 hypogonadotropism 9.7
22 hypogonadotropic hypogonadism 9.7
23 polydactyly 9.7
24 coloboma 9.7
25 malignant tumor of undescended testis 9.6 CHD7 OTX2 PAX2
26 cataract 9.5
27 glioblastoma multiforme 9.5
28 common variable immunodeficiency 9.5
29 laryngitis 9.5
30 usher syndrome 9.5
31 congenital diaphragmatic hernia 9.5
32 autism spectrum disorder 9.5
33 muscular atrophy 9.5
34 chorioretinitis 9.5
35 esophageal atresia 9.5
36 hypoparathyroidism 9.5
37 otitis media 9.5
38 t cell deficiency 9.5
39 glioblastoma 9.5
40 medulloblastoma 9.5
41 heart disease 9.5
42 oculo-auriculo-vertebral spectrum 9.5
43 prader-willi syndrome 9.5
44 severe combined immune deficiency 9.5
45 esophagitis 9.5
46 down syndrome 9.5
47 otosclerosis 9.5
48 atresia of urethra 9.1 ANOS1 CHD7 FGF8 FGFR1 PROK2 PROKR2
49 complex cortical dysplasia with other brain malformations 9.1 ANOS1 CHD7 FGF8 FGFR1 PROK2 PROKR2
50 reproductive organ cancer 9.1 ANOS1 CHD7 FGF8 FGFR1 PROK2 PROKR2

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



Diseases related to Charge Syndrome

Symptoms & Phenotypes for Charge Syndrome

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Peripheral Nervous System:
dysphagia
facial palsy
cranial nerve anomalies

Head And Neck- Head:
microcephaly

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

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

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

Genitourinary- Kidneys:
hydronephrosis
horseshoe kidney

Head And Neck- Ears:
small ears
cup-shaped ears
lop ears
deafness (sensorineural or mixed sensorineural and conductive)
mondini defect
more
Endocrine Features:
growth hormone deficiency
hypothyroidism
parathyroid hypoplasia
gonadotropin deficiency

Laboratory- Abnormalities:
hypocalcemia

Genitourinary- External Genitalia Female:
hypoplastic labia

Genitourinary:
delayed pubertal development

Neurologic- Central Nervous System:
mental retardation, variable severity
intellectual function may be high in milder cases
balance disturbances

Head And Neck- Eyes:
downslanting palpebral fissures
ptosis
hypertelorism
microphthalmia
anophthalmia
more
Abdomen- Gastroin testinal:
poor feeding
duodenal atresia
tracheoesophageal fistula
esophageal atresia
anal stenosis
more
Genitourinary- External Genitalia Male:
micropenis

Head And Neck- Mouth:
cleft palate
cleft lip

Cardiovascular- Vascular:
patent ductus arteriosus

Genitourinary- Internal Genitalia Male:
cryptorchidism

Neurologic- Behavioral Psychiatric Manifestations:
autistic features

Growth- Other:
postnatal growth retardation

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

Chest- Ribs Sternum Clavicles And Scapulae:
rib anomalies

Skeletal- Limbs:
monodactyly (some)
ulnar hypoplasia (some)
tibial aplasia (some)
bifid femur (some)
radial aplasia (reported in 1 patient)


Clinical features from OMIM:

214800

Human phenotypes related to Charge Syndrome:

32 (show top 50) (show all 124)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 very rare (1%) HP:0002650
2 brachydactyly 32 occasional (7.5%) HP:0001156
3 optic atrophy 32 frequent (33%) HP:0000648
4 nystagmus 32 frequent (33%) HP:0000639
5 dysphagia 32 HP:0002015
6 strabismus 32 frequent (33%) HP:0000486
7 umbilical hernia 32 HP:0001537
8 ptosis 32 very rare (1%) HP:0000508
9 microcephaly 32 very rare (1%) HP:0000252
10 micrognathia 32 very rare (1%) HP:0000347
11 depressed nasal bridge 32 frequent (33%) HP:0005280
12 micropenis 32 HP:0000054
13 lymphopenia 32 HP:0001888
14 hypertelorism 32 very rare (1%) HP:0000316
15 intrauterine growth retardation 32 occasional (7.5%) HP:0001511
16 choanal atresia 32 frequent (33%) HP:0000453
17 cleft palate 32 very rare (1%) HP:0000175
18 atrial septal defect 32 HP:0001631
19 patent ductus arteriosus 32 frequent (33%) HP:0001643
20 polyhydramnios 32 frequent (33%) HP:0001561
21 microphthalmia 32 frequent (33%) HP:0000568
22 coloboma 32 HP:0000589
23 hydronephrosis 32 occasional (7.5%) HP:0000126
24 gastroesophageal reflux 32 frequent (33%) HP:0002020
25 cryptorchidism 32 hallmark (90%) HP:0000028
26 hemivertebrae 32 very rare (1%) HP:0002937
27 iris coloboma 32 very rare (1%) HP:0000612
28 intellectual disability 32 very rare (1%) HP:0001249
29 ventricular septal defect 32 HP:0001629
30 tetralogy of fallot 32 frequent (33%) HP:0001636
31 autism 32 frequent (33%) HP:0000717
32 omphalocele 32 very rare (1%) HP:0001539
33 delayed puberty 32 HP:0000823
34 webbed neck 32 very rare (1%) HP:0000465
35 pulmonic stenosis 32 HP:0001642
36 horseshoe kidney 32 occasional (7.5%) HP:0000085
37 bifid scrotum 32 frequent (33%) HP:0000048
38 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
39 renal agenesis 32 very rare (1%) HP:0000104
40 dandy-walker malformation 32 occasional (7.5%) HP:0001305
41 aqueductal stenosis 32 occasional (7.5%) HP:0002410
42 respiratory insufficiency 32 occasional (7.5%) HP:0002093
43 feeding difficulties 32 HP:0011968
44 narrow face 32 frequent (33%) HP:0000275
45 renal hypoplasia 32 very rare (1%) HP:0000089
46 downslanted palpebral fissures 32 HP:0000494
47 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
48 duodenal atresia 32 HP:0002247
49 growth hormone deficiency 32 very rare (1%) HP:0000824
50 postnatal growth retardation 32 HP:0008897

UMLS symptoms related to Charge Syndrome:


anosmia

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.5 CHD8
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.5 CHD8
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.5 CHD8
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.5 FGF8
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.5 CHD8
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.5 FGF8
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.5 CHD8 FGF8 PROKR2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.5 FGF8
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.5 FGF8
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.5 CHD8
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.5 PROKR2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.5 PROKR2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.5 PROKR2

MGI Mouse Phenotypes related to Charge Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.09 CHD8 FGF8 FGFR1 OTX2 PAX2 PROKR2
2 cardiovascular system MP:0005385 10.06 CHD7 FGF8 FGFR1 OTX2 PAX2 SEMA3E
3 embryo MP:0005380 9.92 CHD7 CHD8 FGF8 FGFR1 OTX2 PAX2
4 craniofacial MP:0005382 9.88 CHD7 FGF8 FGFR1 FOXE1 OTX2 SOX11
5 endocrine/exocrine gland MP:0005379 9.86 FGF8 FGFR1 FOXE1 OTX2 PAX2 PROKR2
6 digestive/alimentary MP:0005381 9.85 CHD7 FGF8 FGFR1 FOXE1 OTX2 SOX11
7 nervous system MP:0003631 9.65 CHD7 FGF8 FGFR1 OTX2 PAX2 PROK2
8 hearing/vestibular/ear MP:0005377 9.55 CHD7 FGF8 FGFR1 OTX2 PAX2
9 vision/eye MP:0005391 9.17 CHD7 FGF8 FGFR1 OTX2 PAX2 SEMA3E

Drugs & Therapeutics for Charge Syndrome

Drugs for Charge Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 90)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
rituximab Approved Phase 4,Phase 3 174722-31-7 10201696
3
Tacrolimus Approved, Investigational Phase 4,Phase 3 104987-11-3 445643 439492
4
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
5
Chlorpromazine Approved, Vet_approved Phase 4 50-53-3 2726
6
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
7 Antipsychotic Agents Phase 4
8 Central Nervous System Depressants Phase 4
9 Dopamine Agents Phase 4
10 Dopamine Antagonists Phase 4
11 Dopamine D2 Receptor Antagonists Phase 4
12 Neurotransmitter Agents Phase 4,Phase 1
13 Paliperidone Palmitate Phase 4
14 Psychotropic Drugs Phase 4
15
Serotonin Phase 4 50-67-9 5202
16 Serotonin 5-HT2 Receptor Antagonists Phase 4
17 Serotonin Agents Phase 4
18 Serotonin Antagonists Phase 4
19 Tranquilizing Agents Phase 4
20 Antibodies Phase 4,Phase 3,Phase 2
21 Antirheumatic Agents Phase 4,Phase 3
22 Calcineurin Inhibitors Phase 4,Phase 3
23 Immunoglobulins Phase 4,Phase 3,Phase 2
24 Immunosuppressive Agents Phase 4,Phase 3
25 Adrenergic Agents Phase 4
26 Adrenergic Agonists Phase 4
27 Adrenergic alpha-2 Receptor Agonists Phase 4
28 Adrenergic alpha-Agonists Phase 4
29 Analgesics Phase 4
30 Analgesics, Non-Narcotic Phase 4
31 Hypnotics and Sedatives Phase 4
32 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1
33 Antidepressive Agents Phase 4
34 Antiemetics Phase 4,Phase 3
35 Antimanic Agents Phase 4
36 Autonomic Agents Phase 4,Phase 3,Phase 1
37 Gastrointestinal Agents Phase 4,Phase 3
38 Lithium carbonate Phase 4 554-13-2
39 Neurotransmitter Uptake Inhibitors Phase 4
40 Serotonin Uptake Inhibitors Phase 4
41 Anti-Inflammatory Agents Phase 4,Phase 3
42
Bortezomib Approved, Investigational Phase 3 179324-69-7 387447 93860
43
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
44
Lenalidomide Approved Phase 3 191732-72-6 216326
45 Antibodies, Monoclonal Phase 3
46 Anti-Bacterial Agents Phase 3
47 Anti-Infective Agents Phase 3
48 Angiogenesis Inhibitors Phase 3
49 Angiogenesis Modulating Agents Phase 3
50 Antineoplastic Agents, Hormonal Phase 3

Interventional clinical trials:

(show all 46)

id Name Status NCT ID Phase Drugs
1 Early Prediction of Clinical Response in Patients With Schizophrenia Treated by Paliperidone ER Completed NCT02075528 Phase 4 Paliperidone ER
2 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome Recruiting NCT02382575 Phase 4 Rituximab;Tacrolimus
3 Dexmedetomidine Versus Standard Clinical Practice During Non Invasive Mechanical Ventilation Recruiting NCT02958150 Phase 4 Dexmedetomidine
4 Comparison of Combination Olanzapine+Lithium or Chlorpromazine+Lithium in Treatment of First Manic Episode With Psychotic Features Recruiting NCT00202293 Phase 4 Olanzapine;Lithium;Chlorpromazine
5 Effects of Mesalamine and Amitriptyline on Irritable Bowel Syndrome Withdrawn NCT02190526 Phase 4 Mesalazine(asacol 800 mg);Amitriptyline;placebo like asacol;placebo like amitriptyline
6 Trial for the Use of Pretest Probability to Reduce Unnecessary Testing for Low-Risk Patients With Chest Pain Unknown status NCT00243516 Phase 3
7 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Dependent Nephrotic Syndrome Completed NCT02438982 Phase 3 Tacrolimus;Rituximab
8 Randomized Trial of Lenalidomide, Bortezomib, Dexamethasone vs High-Dose Treatment With SCT in MM Patients up to Age 65 Recruiting NCT01208662 Phase 3 Lenalidomide;Bortezomib;Dexamethasone
9 Schizophrenia TreAtment With electRic Transcranial Stimulation Recruiting NCT02535676 Phase 2, Phase 3
10 Effects of Laser Therapy and LED Therapy on Elderly Individuals With Temporomandibular Disorder Recruiting NCT03257748 Phase 2
11 Effects on Microcirculation of IgGAM in Severe Septic/Septic Shock Patients. Recruiting NCT02655133 Phase 2 Pentaglobin®;Physiologic solution
12 A Phase 1 Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ManNAc in Subjects With Primary Podocyte Diseases Recruiting NCT02639260 Phase 1 N-acetyl-mannosamine (ManNAc)
13 Neostigmine Treatment of Acute Pancreatitis Combined With Intra-abdominal Hypertension Not yet recruiting NCT02543658 Phase 1 Neostigmine;The traditional treatment
14 Safe & Easy Environment at Home for Patients Presenting a Frail Syndrome Unknown status NCT02288221
15 Safe & Easy for Alzheimer's Disease and Related Pathologies Unknown status NCT02518243
16 Does Inspiratory Muscle Training Improve Functional Capacity in Subjects With Obstructive Sleep Apnea? Unknown status NCT02584205
17 Clinical and Molecular Study of CHARGE Syndrom Completed NCT03186144
18 Diagnostic Value of Heart-Fatty Acid Binding Protein and Ischemia Modified Albumin as Biochemical Markers on Non ST Segment Elevation Acute Coronary Syndrome at the Emergency Room. Completed NCT00714298
19 Progressive Resistance Training of the Biceps in Subacromial Impingement Syndrome Completed NCT01314196
20 Observational Study Evaluating the Use of Intellivent® for Patients With Respiratory Distress Syndrome Completed NCT01489085
21 Families Expectations and Hope Raised by an Evaluation of Consciousness in Patients in a Vegetative State Completed NCT02879565
22 Telemedicine in Sleep Breathing Disorders: a Multicenter Study. Completed NCT01716676
23 Statewide Communication to Reach Diverse Low Income Women Completed NCT02956681
24 Multi-level Determinants of Starting ART Late: Aim 2 Completed NCT01997346
25 Natural History of West Nile Virus Infection Completed NCT00069303
26 Health Protection & Promotion for Oregon Correctional Officers Completed NCT02098603
27 Assessment of a Proposed Microbiological Alert and Its Impact on a Sepsis Campaign Completed NCT02325258
28 Male Engagement in PMTCT Services Completed NCT01903889
29 Transgender, Silicone and Blood Smear Completed NCT02580760
30 TranQuill™ Sling Snoreplasty for Snoring and Mild Obstructive Sleep Apnea: Completed NCT02364518
31 Residual Risk Assessment Of HIV Transmission Completed NCT01413152
32 Effects of Nursing Staff on Empiric Antibiotic in Septic Shock Completed NCT03085459
33 In-line Filtration to Reduce Systemic Inflammatory Response Syndrome in Babies Born Very prEtErm Recruiting NCT02686060
34 Copeptin Testing During Pre-hospital Care in the Treatment of Chest Pain Suggestive of Acute Coronary Syndrome Recruiting NCT02116426
35 Extracorporeal Membrane Oxygenation for Severe Acute Respiratory Distress Syndrome Recruiting NCT01470703
36 Type 1 Multiple Endocrine Neoplasia Cohort Study Recruiting NCT03262129
37 Performance Evaluation of Clinical Ultrasound in Management of Acute Pulmonary Edema in Elderly Patient Recruiting NCT02638350
38 Effects of Green-MED Diet Via the Gut-fat-brain Axis Recruiting NCT03020186
39 Fish or Nuts? Dietary Effects on Cardiometabolic Risk Factors and Persistent Organic Pollutants Recruiting NCT02589756
40 Preoperative Omega-3 Polyunsaturated Fatty Acids in Morbidly Obese to Reduce Liver Volume and Steatosis Recruiting NCT03006016 Omega-3 Fatty Acid
41 tDCS Intervention in Primary Progressive Aphasia Recruiting NCT02606422
42 The Inspiratory Muscle Training Improves the Severity of Obstructive Sleep Apnea and Sleep Quality? Recruiting NCT02963844
43 Brain Stimulation for the Treatment of Tourette Syndrome Active, not recruiting NCT01329198
44 Perception of Facial Emotions in Schizophrenia and 22q11 Deletion Syndrome Active, not recruiting NCT02634671
45 Increasing Exercise Adherence After Percutaneous Coronary Intervention With the Fitbit Charge HR Device Enrolling by invitation NCT02788929
46 Whole Body Hyperthermia Registry Study Terminated NCT02174003

Search NIH Clinical Center for Charge Syndrome

Cochrane evidence based reviews: charge syndrome

Genetic Tests for Charge Syndrome

Genetic tests related to Charge Syndrome:

id Genetic test Affiliating Genes
1 Charge Association 29
2 Charge Syndrome 24 CHD7 SEMA3E

Anatomical Context for Charge Syndrome

MalaCards organs/tissues related to Charge Syndrome:

39
Heart, Retina, Eye, Bone, Testes, Liver, Brain

Publications for Charge Syndrome

Articles related to Charge Syndrome:

(show top 50) (show all 255)
id Title Authors Year
1
Experiences in feeding and gastrointestinal dysfunction in children with CHARGE syndrome. ( 28940710 )
2017
2
Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). ( 28160409 )
2017
3
The Modified Rambo Transcanal Approach for Cochlear Implantation in CHARGE Syndrome. ( 28777229 )
2017
4
Support for the Diagnosis of CHARGE Syndrome-Reply. ( 28241177 )
2017
5
Coronal clival cleft in CHARGE syndrome. ( 28059674 )
2017
6
Support for the Diagnosis of CHARGE Syndrome. ( 28241200 )
2017
7
A Rare Case of Vascular Ring and Coarctation of the Aorta in Association with CHARGE Syndrome. ( 28461801 )
2017
8
CHARGE Syndrome. ( 28044040 )
2017
9
Head and Neck MRI Findings in CHARGE Syndrome. ( 28705814 )
2017
10
Outcomes and Time to Emergence of Auditory Skills After Cochlear Implantation of Children With Charge Syndrome. ( 28657954 )
2017
11
Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome. ( 27875026 )
2017
12
Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome. ( 27145116 )
2016
13
Congenital Glaucoma and CHARGE Syndrome: A Case Report. ( 27661987 )
2016
14
Newly Emerging Feeding Difficulties in a 33-Year-Old Adult With CHARGE Syndrome. ( 26668685 )
2016
15
Outcomes of long-term audiological rehabilitation in charge syndrome. ( 27214832 )
2016
16
Quality of life in adolescents and adults with CHARGE syndrome. ( 27273681 )
2016
17
Correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. ( 27739643 )
2016
18
Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports. ( 27957375 )
2016
19
Prenatal Findings in Children with early postnatal diagnosis of CHARGE Syndrome. ( 27061523 )
2016
20
Duplication 2p25 in a child with clinical features of CHARGE syndrome. ( 26850571 )
2016
21
CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery. ( 27324890 )
2016
22
Oral features and computerized rehabilitation of a young patient with CHARGE syndrome using minimally invasive long-term interim CAD-CAM restorations. ( 27881329 )
2016
23
CHARGE syndrome gastrointestinal involvement: from mouth to anus. ( 28155231 )
2016
24
Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity. ( 28616537 )
2016
25
Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts. ( 27321065 )
2016
26
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. ( 27832265 )
2016
27
Anomalous Origin of the Left Common Carotid Artery from the Main Pulmonary Artery: A Rare Association in an Infant with CHARGE Syndrome. ( 27974985 )
2016
28
CHARGE Syndrome and Common Variable Immunodeficiency: a case report and review of literature. ( 27062223 )
2016
29
Cochlear Implantation in Patients With CHARGE Syndrome. ( 27557911 )
2016
30
12th International CHARGE syndrome conference proceedings. ( 26754144 )
2016
31
Response to correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. ( 26996150 )
2016
32
EP09.10: Prenatal diagnosis of Charge syndrome associated with intestinal malrotation. ( 27644198 )
2016
33
Suggestions for a Guideline for Cochlear Implantation in CHARGE Syndrome. ( 27636388 )
2016
34
Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly. ( 26901670 )
2016
35
A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome. ( 27081570 )
2016
36
Packing and Problematic Feeding Behaviors in CHARGE Syndrome: A Qualitative Analysis. ( 26857326 )
2016
37
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. ( 26590800 )
2016
38
A case of mild CHARGE syndrome associated with a splice site mutation in CHD7. ( 26921530 )
2016
39
Radiologic and Audiologic Findings in the Temporal Bone of Patients with CHARGE Syndrome. ( 27303220 )
2016
40
Ultrasound evaluation of development of olfactory sulci in normal fetuses: a possible role in diagnosis of CHARGE syndrome. ( 26255985 )
2015
41
Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome. ( 26411921 )
2015
42
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon. ( 26334530 )
2015
43
The Immune Phenotype of Patients with CHARGE Syndrome. ( 26563674 )
2015
44
Pocketing of food in cheeks during eating in an adolescent with CHARGE syndrome. ( 26541624 )
2015
45
Charge syndrome in a Nigerian infant: a rare genetic disorder. ( 26937533 )
2015
46
Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study. ( 26544072 )
2015
47
Clinical utility gene card for: CHARGE syndrome - update 2015. ( 25689928 )
2015
48
CHARGE syndrome with oculomotor nerve palsy. ( 26691038 )
2015
49
Spontaneous postnatal growth is reduced in children with CHARGE syndrome. ( 25703429 )
2015
50
Epigenetic Developmental Disorders: CHARGE syndrome, a case study. ( 25685640 )
2015

Variations for Charge Syndrome

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

71 (show all 33)
id Symbol AA change Variation ID SNP ID
1 CHD7 p.Ile1028Val VAR_021059 rs121434338
2 CHD7 p.Leu1257Arg VAR_021060 rs121434339
3 CHD7 p.Trp1031Gly VAR_033245
4 CHD7 p.Gln1214Arg VAR_033246
5 CHD7 p.Leu1294Pro VAR_033247 rs864309609
6 CHD7 p.Leu1815Pro VAR_033248
7 CHD7 p.His2096Arg VAR_033249 rs587783451
8 CHD7 p.Arg2319Ser VAR_033250 rs121434341
9 CHD7 p.Glu871Asp VAR_068117
10 CHD7 p.Leu1020Ser VAR_068124
11 CHD7 p.Gln1395His VAR_068129
12 CHD7 p.Gly1684Ser VAR_068134
13 CHD7 p.Leu1739Arg VAR_068135
14 CHD7 p.Gly1802Asp VAR_068137
15 CHD7 p.Arg2065Ser VAR_068141
16 CHD7 p.Gly2108Arg VAR_068144 rs121434343
17 CHD7 p.Ile2116Asn VAR_068145
18 CHD7 p.Arg2418Gly VAR_068150
19 CHD7 p.Trp840Cys VAR_068387
20 CHD7 p.Trp1031Arg VAR_068390
21 CHD7 p.Thr1082Asn VAR_068392
22 CHD7 p.Cys1101Arg VAR_068393
23 CHD7 p.Leu1292Pro VAR_068395
24 CHD7 p.Cys1318Arg VAR_068397
25 CHD7 p.Arg1345His VAR_068398
26 CHD7 p.Gly1797Val VAR_068403
27 CHD7 p.Asp1812Gly VAR_068404
28 CHD7 p.Asp1812His VAR_068405
29 CHD7 p.Trp2091Arg VAR_068409
30 CHD7 p.Gly2286Ala VAR_068415
31 CHD7 p.Leu1302Pro VAR_072961
32 CHD7 p.Val1742Asp VAR_072964
33 CHD7 p.Gly2108Trp VAR_078703

ClinVar genetic disease variations for Charge Syndrome:

6 (show top 50) (show all 121)
id Gene Variation Type Significance SNP ID Assembly Location
1 CHD7 NM_017780.3(CHD7): c.3082A> G (p.Ile1028Val) single nucleotide variant Pathogenic rs121434338 GRCh37 Chromosome 8, 61735186: 61735186
2 CHD7 NM_017780.3(CHD7): c.3770T> G (p.Leu1257Arg) single nucleotide variant Pathogenic rs121434339 GRCh37 Chromosome 8, 61743128: 61743128
3 CHD7 NM_017780.3(CHD7): c.5418C> G (p.Tyr1806Ter) single nucleotide variant Pathogenic rs121434340 GRCh37 Chromosome 8, 61763065: 61763065
4 CHD7 CHD7, IVS26AS, G-A, -7 single nucleotide variant Pathogenic
5 CHD7 CHD7, TRP2332TER undetermined variant Pathogenic
6 CHD7 NM_017780.3(CHD7): c.6955C> A (p.Arg2319Ser) single nucleotide variant Pathogenic rs121434341 GRCh37 Chromosome 8, 61768552: 61768552
7 CHD7 NM_017780.3(CHD7): c.3811G> T (p.Glu1271Ter) single nucleotide variant Pathogenic rs121434342 GRCh37 Chromosome 8, 61748664: 61748664
8 CHD7 NM_017780.3(CHD7): c.5752dupA (p.Thr1918Asnfs) duplication Pathogenic rs786200873 GRCh38 Chromosome 8, 60852105: 60852105
9 CHD7 CHD7, DEL EXONS 8-12 deletion Pathogenic
10 CHD7 NM_017780.3(CHD7): c.6322G> A (p.Gly2108Arg) single nucleotide variant Pathogenic rs121434343 GRCh37 Chromosome 8, 61765606: 61765606
11 CHD7 NM_017780.3(CHD7): c.2501C> T (p.Ser834Phe) single nucleotide variant Pathogenic rs121434344 GRCh37 Chromosome 8, 61728948: 61728948
12 CHD7 NM_017780.3(CHD7): c.2442+5G> C single nucleotide variant Pathogenic rs387906271 GRCh37 Chromosome 8, 61714157: 61714157
13 CHD7 CHD7, 1-BP INS, 8682T insertion Pathogenic
14 CHD7 NM_017780.3(CHD7): c.4795C> T (p.Gln1599Ter) single nucleotide variant Pathogenic rs267606724 GRCh37 Chromosome 8, 61754556: 61754556
15 SEMA3E NM_012431.2(SEMA3E): c.2108C> T (p.Ser703Leu) single nucleotide variant Pathogenic rs121918341 GRCh37 Chromosome 7, 82997122: 82997122
16 CHD7 NM_017780.3(CHD7): c.2839C> T (p.Arg947Ter) single nucleotide variant Pathogenic rs200220845 GRCh37 Chromosome 8, 61734586: 61734586
17 CHD7 NM_017780.3(CHD7): c.4379_4380delTA (p.Ile1460Argfs) deletion Pathogenic rs398124319 GRCh37 Chromosome 8, 61750660: 61750661
18 CHD7 NM_017780.3(CHD7): c.5181C> G (p.Tyr1727Ter) single nucleotide variant Pathogenic rs398124320 GRCh37 Chromosome 8, 61757939: 61757939
19 CHD7 NM_017780.3(CHD7): c.5405-7G> A single nucleotide variant Pathogenic rs398124321 GRCh37 Chromosome 8, 61763045: 61763045
20 CHD7 NM_017780.3(CHD7): c.5895-1G> C single nucleotide variant Pathogenic rs398124322 GRCh37 Chromosome 8, 61765056: 61765056
21 CHD7 NM_017780.3(CHD7): c.191_194delCAAA (p.Thr64Serfs) deletion Pathogenic rs587783431 GRCh38 Chromosome 8, 60741623: 60741626
22 CHD7 NM_017780.3(CHD7): c.1246G> T (p.Gly416Ter) single nucleotide variant Pathogenic rs587783428 GRCh38 Chromosome 8, 60742678: 60742678
23 CHD7 NM_017780.3(CHD7): c.1480C> T (p.Arg494Ter) single nucleotide variant Pathogenic rs587783429 GRCh38 Chromosome 8, 60742912: 60742912
24 CHD7 NM_017780.3(CHD7): c.2613+1G> A single nucleotide variant Pathogenic rs587783432 GRCh38 Chromosome 8, 60816502: 60816502
25 CHD7 NM_017780.3(CHD7): c.2643T> G (p.Tyr881Ter) single nucleotide variant Pathogenic rs587783433 GRCh38 Chromosome 8, 60820036: 60820036
26 CHD7 NM_017780.3(CHD7): c.2815G> T (p.Glu939Ter) single nucleotide variant Pathogenic rs587783434 GRCh38 Chromosome 8, 60821907: 60821907
27 CHD7 NM_017780.3(CHD7): c.2905_2906delAG (p.Arg969Glyfs) deletion Pathogenic rs587783436 GRCh38 Chromosome 8, 60822093: 60822094
28 CHD7 NM_017780.3(CHD7): c.4318C> T (p.Gln1440Ter) single nucleotide variant Pathogenic rs587783440 GRCh38 Chromosome 8, 60837800: 60837800
29 CHD7 NM_017780.3(CHD7): c.4353+3A> G single nucleotide variant Likely pathogenic rs587783441 GRCh38 Chromosome 8, 60837838: 60837838
30 CHD7 NM_017780.3(CHD7): c.4480C> T (p.Arg1494Ter) single nucleotide variant Pathogenic rs587783442 GRCh38 Chromosome 8, 60838202: 60838202
31 CHD7 NM_017780.3(CHD7): c.4634delT (p.Leu1545Terfs) deletion Pathogenic rs587783443 GRCh38 Chromosome 8, 60841744: 60841744
32 CHD7 NM_017780.3(CHD7): c.5450T> G (p.Phe1817Cys) single nucleotide variant Likely pathogenic rs587783445 GRCh38 Chromosome 8, 60850538: 60850538
33 CHD7 NM_017780.3(CHD7): c.5458C> T (p.Arg1820Ter) single nucleotide variant Pathogenic rs587783446 GRCh38 Chromosome 8, 60850546: 60850546
34 CHD7 NM_017780.3(CHD7): c.5551G> T (p.Glu1851Ter) single nucleotide variant Pathogenic rs587783447 GRCh38 Chromosome 8, 60851048: 60851048
35 CHD7 NM_017780.3(CHD7): c.5666-2A> C single nucleotide variant Pathogenic rs587783448 GRCh38 Chromosome 8, 60852017: 60852017
36 CHD7 NM_017780.3(CHD7): c.6157C> T (p.Arg2053Ter) single nucleotide variant Pathogenic rs587783450 GRCh38 Chromosome 8, 60852882: 60852882
37 CHD7 NM_017780.3(CHD7): c.6287A> G (p.His2096Arg) single nucleotide variant Likely pathogenic rs587783451 GRCh38 Chromosome 8, 60853012: 60853012
38 CHD7 NM_017780.3(CHD7): c.6850C> T (p.Arg2284Ter) single nucleotide variant Pathogenic rs587783454 GRCh38 Chromosome 8, 60854437: 60854437
39 CHD7 NM_017780.3(CHD7): c.7252C> T (p.Arg2418Ter) single nucleotide variant Pathogenic rs587783455 GRCh38 Chromosome 8, 60856532: 60856532
40 CHD7 NM_017780.3(CHD7): c.7384_7387delTCTT (p.Ser2462Glnfs) deletion Pathogenic rs587783456 GRCh38 Chromosome 8, 60856664: 60856667
41 CHD7 NM_017780.3(CHD7): c.7891C> T (p.Arg2631Ter) single nucleotide variant Pathogenic rs587783457 GRCh38 Chromosome 8, 60862256: 60862256
42 CHD7 NM_017780.3(CHD7): c.7957C> T (p.Arg2653Ter) single nucleotide variant Pathogenic rs587783458 GRCh38 Chromosome 8, 60862322: 60862322
43 CHD7 NM_017780.3(CHD7): c.8055G> A (p.Trp2685Ter) single nucleotide variant Pathogenic rs587783459 GRCh38 Chromosome 8, 60862631: 60862631
44 CHD7 NM_017780.3(CHD7): c.1090C> T (p.Gln364Ter) single nucleotide variant Pathogenic rs727503860 GRCh38 Chromosome 8, 60742522: 60742522
45 CHD7 NM_017780.3(CHD7): c.1369C> T (p.Gln457Ter) single nucleotide variant Pathogenic rs727503861 GRCh37 Chromosome 8, 61655360: 61655360
46 CHD7 NM_017780.3(CHD7): c.2933G> A (p.Trp978Ter) single nucleotide variant Pathogenic rs727503863 GRCh37 Chromosome 8, 61734680: 61734680
47 CHD7 NM_017780.3(CHD7): c.7145dupC (p.Ser2383Valfs) duplication Pathogenic rs786200969 GRCh37 Chromosome 8, 61768742: 61768742
48 CHD7 NM_017780.3(CHD7): c.1487_1488insA (p.Pro497Thrfs) duplication Pathogenic rs786204200 GRCh37 Chromosome 8, 61655479: 61655479
49 CHD7 NM_017780.3(CHD7): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs794727293 GRCh37 Chromosome 8, 61654460: 61654460
50 CHD7 NM_017780.3(CHD7): c.1224_1234delTCCTCCTCCAC (p.Pro409Serfs) deletion Pathogenic rs794727295 GRCh37 Chromosome 8, 61655215: 61655225

Copy number variations for Charge Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 241347 8 61753892 61942021 Deletion or duplicat ion CHD7 Charge syndrome

Expression for Charge Syndrome

Search GEO for disease gene expression data for Charge Syndrome.

Pathways for Charge Syndrome

Pathways related to Charge Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.7 FGF8 FGFR1 PAX2
2 10.43 FGF8 OTX2

GO Terms for Charge Syndrome

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

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.97 CHD6 CHD7 CHD8 FGFR1 FOXE1 OTX2
2 covalent chromatin modification GO:0016569 9.8 CHD6 CHD7 CHD8 SMARCA1
3 positive regulation of cell proliferation GO:0008284 9.8 FGF8 FGFR1 PAX2 PROK2 SOX11
4 skeletal system development GO:0001501 9.77 CHD7 FGFR1 SOX11
5 branching involved in blood vessel morphogenesis GO:0001569 9.61 FGF8 SEMA3E
6 fibroblast growth factor receptor signaling pathway GO:0008543 9.61 ANOS1 FGF8 FGFR1
7 embryonic hindlimb morphogenesis GO:0035116 9.6 CHD7 FGF8
8 thyroid gland development GO:0030878 9.58 FGF8 FOXE1
9 dopaminergic neuron differentiation GO:0071542 9.58 FGF8 OTX2
10 ATP-dependent chromatin remodeling GO:0043044 9.57 CHD8 SMARCA1
11 lung morphogenesis GO:0060425 9.56 FGF8 SOX11
12 aorta morphogenesis GO:0035909 9.54 CHD7 FGF8
13 mesonephros development GO:0001823 9.52 FGF8 PAX2
14 generation of neurons GO:0048699 9.51 FGF8 FGFR1
15 branching involved in salivary gland morphogenesis GO:0060445 9.48 FGF8 FGFR1
16 organ induction GO:0001759 9.46 FGF8 FGFR1
17 positive regulation of transcription, DNA-templated GO:0045893 9.43 CHD8 FOXE1 OTX2 PAX2 SMARCA1 SOX11
18 neuroepithelial cell differentiation GO:0060563 9.37 FGF8 SOX11
19 hard palate development GO:0060022 9.26 FOXE1 SOX11
20 soft palate development GO:0060023 9.16 FOXE1 SOX11
21 inner ear morphogenesis GO:0042472 8.92 CHD7 FGF8 FGFR1 PAX2
22 transcription, DNA-templated GO:0006351 10.15 CHD6 CHD7 CHD8 FGFR1 FOXE1 PAX2

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.86 CHD6 CHD7 CHD8 FOXE1 OTX2 PAX2
2 DNA-dependent ATPase activity GO:0008094 9.33 CHD6 CHD8 SMARCA1
3 helicase activity GO:0004386 9.26 CHD6 CHD7 CHD8 SMARCA1
4 hydrolase activity, acting on acid anhydrides GO:0016817 8.8 CHD6 CHD7 CHD8

Sources for Charge Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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