Aliases & Classifications for Chd7 Disorder

MalaCards integrated aliases for Chd7 Disorder:

Name: Chd7 Disorder 25

Summaries for Chd7 Disorder

MalaCards based summary : Chd7 Disorder is related to choanal atresia, posterior and charge syndrome. An important gene associated with Chd7 Disorder is CHD7 (Chromodomain Helicase DNA Binding Protein 7).

GeneReviews: NBK1117

Related Diseases for Chd7 Disorder

Diseases related to Chd7 Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 choanal atresia, posterior 29.3 SEMA3E CHD7
2 charge syndrome 29.2 SEMA3E CHD7
3 coloboma of macula 9.9
4 branchiootic syndrome 1 9.9
5 cleft lip 9.9
6 kallmann syndrome 9.5 SEMA3E CHD7

Graphical network of the top 20 diseases related to Chd7 Disorder:



Diseases related to Chd7 Disorder

Symptoms & Phenotypes for Chd7 Disorder

Drugs & Therapeutics for Chd7 Disorder

Search Clinical Trials , NIH Clinical Center for Chd7 Disorder

Genetic Tests for Chd7 Disorder

Anatomical Context for Chd7 Disorder

Publications for Chd7 Disorder

Articles related to Chd7 Disorder:

(show top 50) (show all 57)
# Title Authors PMID Year
1
CHARGE syndrome: genetic aspects and dental challenges, a review and case presentation. 25
32384900 2020
2
Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study. 25
30237300 2018
3
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. 25
29144511 2018
4
New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries. 25
29171162 2017
5
Clinical and molecular effects of CHD7 in the heart. 25
29088513 2017
6
Reproductive endocrine phenotypes relating to CHD7 mutations in humans. 25
29152903 2017
7
Late Dumping Syndrome in a 17-Year-Old Female With Charge Syndrome. 25
29205658 2017
8
Guidelines in CHARGE syndrome and the missing link: Cranial imaging. 25
29168326 2017
9
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. 25
29178447 2017
10
Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe. 25
29082627 2017
11
Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up. 25
29088501 2017
12
Birth defects after use of antithyroid drugs in early pregnancy: a Swedish nationwide study. 25
28780518 2017
13
Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). 25
28160409 2017
14
Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of Chd7 from the Embryonic Mid-Hindbrain Region. 25
29046629 2017
15
CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery. 25
27324890 2016
16
Suggestions for a Guideline for Cochlear Implantation in CHARGE Syndrome. 25
27636388 2016
17
Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity. 25
28616537 2016
18
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease. 25
26813943 2016
19
Quality of life in adolescents and adults with CHARGE syndrome. 25
27273681 2016
20
Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome. 25
27145116 2016
21
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. 25
26590800 2016
22
Pocketing of food in cheeks during eating in an adolescent with CHARGE syndrome. 25
26541624 2015
23
CHARGE syndrome: a review of the immunological aspects. 25
25689927 2015
24
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
25
Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study. 25
26544072 2015
26
Birth defects after early pregnancy use of antithyroid drugs: a Danish nationwide study. 25
24151287 2013
27
Potential teratogenicity of methimazole: exposure of zebrafish embryos to methimazole causes similar developmental anomalies to human methimazole embryopathy. 25
23630110 2013
28
The cardiac phenotype in patients with a CHD7 mutation. 25
23677905 2013
29
Mutation update on the CHD7 gene involved in CHARGE syndrome. 25
22461308 2012
30
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. 25
22539353 2012
31
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. 25
21378379 2011
32
Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome. 25
20884005 2011
33
Death in CHARGE syndrome after the neonatal period. 25
20447140 2010
34
Proven germline mosaicism in a father of two children with CHARGE syndrome. 25
19475719 2009
35
Postoperative airway events of individuals with CHARGE syndrome. 25
19058860 2009
36
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. 25
19021638 2009
37
Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. 25
18472328 2008
38
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. 25
18074359 2008
39
Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype. 25
17937444 2007
40
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. 25
18073582 2007
41
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. 25
17661815 2007
42
Cecal volvulus in a child with CHARGE syndrome. 25
16676864 2006
43
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. 25
16400610 2006
44
Updated diagnostic criteria for CHARGE syndrome: a proposal. 25
15666308 2005
45
An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. 25
15637722 2005
46
Scoliosis in CHARGE: a prospective survey and two case reports. 25
15688383 2005
47
Factors related to the development of communication in CHARGE syndrome. 25
15669098 2005
48
Adolescent and adult issues in CHARGE syndrome. 25
15735833 2005
49
Behavior in CHARGE syndrome: introduction to the special topic. 25
15637707 2005
50
Adaptive behavior in children with CHARGE syndrome. 25
15641025 2005

Variations for Chd7 Disorder

Expression for Chd7 Disorder

Search GEO for disease gene expression data for Chd7 Disorder.

Pathways for Chd7 Disorder

GO Terms for Chd7 Disorder

Sources for Chd7 Disorder

3 CDC
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32 ICD10
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57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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