MCID: DYR001
MIFTS: 25

Dyrk1a-Related Intellectual Disability Syndrome

Categories: Blood diseases, Eye diseases, Fetal diseases, Gastrointestinal 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 52
Autosomal Dominant Intellectual Disability-7 52
Dyrk1a Syndrome 52

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). Affiliated tissues include eye, kidney and breast, and related phenotypes are gait disturbance and global developmental delay

GeneReviews: NBK333438

Related Diseases for Dyrk1a-Related Intellectual Disability Syndrome

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

Human phenotypes related to Dyrk1a-Related Intellectual Disability Syndrome:

31 (show top 50) (show all 66)
# Description HPO Frequency HPO Source Accession
1 gait disturbance 31 hallmark (90%) HP:0001288
2 global developmental delay 31 hallmark (90%) HP:0001263
3 delayed speech and language development 31 hallmark (90%) HP:0000750
4 abnormal facial shape 31 hallmark (90%) HP:0001999
5 feeding difficulties 31 hallmark (90%) HP:0011968
6 acromesomelia 31 hallmark (90%) HP:0003086
7 failure to thrive 31 frequent (33%) HP:0001508
8 intrauterine growth retardation 31 frequent (33%) HP:0001511
9 congenital microcephaly 31 frequent (33%) HP:0011451
10 stereotypy 31 frequent (33%) HP:0000733
11 anxiety 31 frequent (33%) HP:0000739
12 poor speech 31 frequent (33%) HP:0002465
13 febrile seizures 31 frequent (33%) HP:0002373
14 autistic behavior 31 frequent (33%) HP:0000729
15 small for gestational age 31 frequent (33%) HP:0001518
16 corneal opacity 31 occasional (7.5%) HP:0007957
17 macrotia 31 occasional (7.5%) HP:0000400
18 cryptorchidism 31 occasional (7.5%) HP:0000028
19 cerebral cortical atrophy 31 occasional (7.5%) HP:0002120
20 gastroesophageal reflux 31 occasional (7.5%) HP:0002020
21 hypoplasia of the brainstem 31 occasional (7.5%) HP:0002365
22 vomiting 31 occasional (7.5%) HP:0002013
23 intellectual disability, severe 31 occasional (7.5%) HP:0010864
24 narrow forehead 31 occasional (7.5%) HP:0000341
25 protruding ear 31 occasional (7.5%) HP:0000411
26 hyperactivity 31 occasional (7.5%) HP:0000752
27 myopia 31 occasional (7.5%) HP:0000545
28 multiple joint contractures 31 occasional (7.5%) HP:0002828
29 prominent nasal bridge 31 occasional (7.5%) HP:0000426
30 deeply set eye 31 occasional (7.5%) HP:0000490
31 clinodactyly of the 5th finger 31 occasional (7.5%) HP:0004209
32 arachnodactyly 31 occasional (7.5%) HP:0001166
33 recurrent infections 31 occasional (7.5%) HP:0002719
34 amblyopia 31 occasional (7.5%) HP:0000646
35 hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0002079
36 optic disc pallor 31 occasional (7.5%) HP:0000543
37 toe syndactyly 31 occasional (7.5%) HP:0001770
38 astigmatism 31 occasional (7.5%) HP:0000483
39 aortic regurgitation 31 occasional (7.5%) HP:0001659
40 exotropia 31 occasional (7.5%) HP:0000577
41 polydactyly 31 occasional (7.5%) HP:0010442
42 hypermetropia 31 occasional (7.5%) HP:0000540
43 anterior pituitary hypoplasia 31 occasional (7.5%) HP:0010627
44 narrow nasal tip 31 occasional (7.5%) HP:0011832
45 pectus excavatum 31 very rare (1%) HP:0000767
46 scoliosis 31 very rare (1%) HP:0002650
47 kyphosis 31 very rare (1%) HP:0002808
48 short stature 31 very rare (1%) HP:0004322
49 renal cyst 31 very rare (1%) HP:0000107
50 ventricular septal defect 31 very rare (1%) HP:0001629

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

MalaCards organs/tissues related to Dyrk1a-Related Intellectual Disability Syndrome:

40
Eye, Kidney, Breast, Pituitary

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. 24
25707398 2016
2
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 24
25944381 2015
3
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 24
25920557 2015
4
DYRK1A mutations in two unrelated patients. 24
25641759 2015
5
Large-scale discovery of novel genetic causes of developmental disorders. 24
25533962 2015
6
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 24
25167861 2014
7
New Perspectives of Dyrk1A Role in Neurogenesis and Neuropathologic Features of Down Syndrome. 24
24465139 2013
8
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. 24
23099646 2012
9
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 24
23160955 2012
10
NMD: a multifaceted response to premature translational termination. 24
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. 24
22548977 2012
12
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. 24
21294719 2011
13
Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A. 24
21031080 2010
14
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. 24
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. 24
8872470 1996
16
DYRK1A-Related Intellectual Disability Syndrome 61
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....