MCID: DYR001
MIFTS: 10

Dyrk1a-Related Intellectual Disability Syndrome

Categories: Rare diseases

Aliases & Classifications for Dyrk1a-Related Intellectual Disability Syndrome

MalaCards integrated aliases for Dyrk1a-Related Intellectual Disability Syndrome:

Name: Dyrk1a-Related Intellectual Disability Syndrome 24 53
Autosomal Dominant Intellectual Disability-7 53
Dyrk1a Syndrome 53

Characteristics:

GeneReviews:

24
Penetrance Penetrance is likely to be 100% in individuals with a de novo pathogenic variant. haploinsufficiency of dyrk1a has not been observed in control populations. expressivity is similar in males and females [van bon et al 2016].

Classifications:



Summaries for Dyrk1a-Related Intellectual Disability Syndrome

MalaCards based summary : Dyrk1a-Related Intellectual Disability Syndrome, also known as autosomal dominant intellectual disability-7, is related to dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion and mental retardation, autosomal dominant 7. An important gene associated with Dyrk1a-Related Intellectual Disability Syndrome is DYRK1A (Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A).

GeneReviews: NBK333438

Related Diseases for Dyrk1a-Related Intellectual Disability Syndrome

Diseases related to Dyrk1a-Related Intellectual Disability Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion 12.5
2 mental retardation, autosomal dominant 7 11.8
3 intellectual disability syndrome due to a dyrk1a point mutation 11.5
4 pectus excavatum 10.3
5 alacrima, achalasia, and mental retardation syndrome 10.3
6 autism spectrum disorder 10.3
7 scoliosis 10.3
8 microcephaly 10.3
9 hypertonia 10.3

Graphical network of the top 20 diseases related to Dyrk1a-Related Intellectual Disability Syndrome:



Diseases related to Dyrk1a-Related Intellectual Disability Syndrome

Symptoms & Phenotypes for Dyrk1a-Related Intellectual Disability Syndrome

Drugs & Therapeutics for Dyrk1a-Related Intellectual Disability Syndrome

Search Clinical Trials , NIH Clinical Center for Dyrk1a-Related Intellectual Disability Syndrome

Genetic Tests for Dyrk1a-Related Intellectual Disability Syndrome

Anatomical Context for Dyrk1a-Related Intellectual Disability Syndrome

Publications for Dyrk1a-Related Intellectual Disability Syndrome

Articles related to Dyrk1a-Related Intellectual Disability Syndrome:

(show all 16)
# Title Authors PMID Year
1
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 4
25707398 2016
2
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 4
25920557 2015
3
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 4
25944381 2015
4
Large-scale discovery of novel genetic causes of developmental disorders. 4
25533962 2015
5
DYRK1A mutations in two unrelated patients. 4
25641759 2015
6
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 4
25167861 2014
7
New Perspectives of Dyrk1A Role in Neurogenesis and Neuropathologic Features of Down Syndrome. 4
24465139 2013
8
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. 4
23099646 2012
9
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 4
23160955 2012
10
NMD: a multifaceted response to premature translational termination. 4
23072888 2012
11
Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy. 4
22548977 2012
12
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. 4
21294719 2011
13
Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A. 4
21031080 2010
14
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. 4
18405873 2008
15
A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region. 4
8872470 1996
16
DYRK1A-Related Intellectual Disability Syndrome 38
26677511 2015

Variations for Dyrk1a-Related Intellectual Disability Syndrome

Expression for Dyrk1a-Related Intellectual Disability Syndrome

Search GEO for disease gene expression data for Dyrk1a-Related Intellectual Disability Syndrome.

Pathways for Dyrk1a-Related Intellectual Disability Syndrome

GO Terms for Dyrk1a-Related Intellectual Disability Syndrome

Sources for Dyrk1a-Related Intellectual Disability Syndrome

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
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73 UMLS via Orphanet
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