MCID: DYR001
MIFTS: 8

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 25 54
Autosomal Dominant Intellectual Disability-7 54
Dyrk1a Syndrome 54

Characteristics:

GeneReviews:

25
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

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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43 MedGen
45 MeSH
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47 MGI
50 NCI
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55 NINDS
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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