MCID: DYR001
MIFTS: 9

Dyrk1a-Related Intellectual Disability Syndrome

Categories: Fetal diseases, Mental diseases, Neuronal diseases, 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.

GeneReviews: NBK333438

Related Diseases for 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:

# Title Authors Year
1
DYRK1A-Related Intellectual Disability Syndrome ( 26677511 )
1993

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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