MCID: CHD008
MIFTS: 8

Chd4 Neurodevelopmental Disorder

Categories: Neuronal diseases

Aliases & Classifications for Chd4 Neurodevelopmental Disorder

MalaCards integrated aliases for Chd4 Neurodevelopmental Disorder:

Name: Chd4 Neurodevelopmental Disorder 25
Sifrim-Hitz-Weiss Syndrome 25
Sihiwes 25

Characteristics:

GeneReviews:

25
Penetrance Because the vast majority of individuals with chd4-ndd reported to date have de novo variants, it is currently thought the penetrance is close to 100%.

Classifications:



Summaries for Chd4 Neurodevelopmental Disorder

MalaCards based summary : Chd4 Neurodevelopmental Disorder, also known as sifrim-hitz-weiss syndrome, is related to sifrim-hitz-weiss syndrome and strabismus. An important gene associated with Chd4 Neurodevelopmental Disorder is CHD4 (Chromodomain Helicase DNA Binding Protein 4).

GeneReviews: NBK561516

Related Diseases for Chd4 Neurodevelopmental Disorder

Diseases related to Chd4 Neurodevelopmental Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sifrim-hitz-weiss syndrome 12.1
2 strabismus 10.1
3 alacrima, achalasia, and mental retardation syndrome 10.1
4 hypogonadism 10.1
5 mechanical strabismus 10.1
6 refractive error 10.1

Graphical network of the top 20 diseases related to Chd4 Neurodevelopmental Disorder:



Diseases related to Chd4 Neurodevelopmental Disorder

Symptoms & Phenotypes for Chd4 Neurodevelopmental Disorder

Drugs & Therapeutics for Chd4 Neurodevelopmental Disorder

Search Clinical Trials , NIH Clinical Center for Chd4 Neurodevelopmental Disorder

Genetic Tests for Chd4 Neurodevelopmental Disorder

Anatomical Context for Chd4 Neurodevelopmental Disorder

Publications for Chd4 Neurodevelopmental Disorder

Articles related to Chd4 Neurodevelopmental Disorder:

# Title Authors PMID Year
1
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. 25 61
31388190 2020
2
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy. 25
31474762 2020
3
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. 25
27616479 2016
4
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 25
27479907 2016
5
Timing, rates and spectra of human germline mutation. 25
26656846 2016
6
[Clinical and genetic analysis of a novel CHD4 gene variant in a Chinese patient with Sifrim-Hitz-Weiss syndrome]. 61
33423261 2021
7
CHD4 Neurodevelopmental Disorder 61
32881470 2020

Variations for Chd4 Neurodevelopmental Disorder

Expression for Chd4 Neurodevelopmental Disorder

Search GEO for disease gene expression data for Chd4 Neurodevelopmental Disorder.

Pathways for Chd4 Neurodevelopmental Disorder

GO Terms for Chd4 Neurodevelopmental Disorder

Sources for Chd4 Neurodevelopmental Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
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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