Aliases & Classifications for Dyrk1a Syndrome

MalaCards integrated aliases for Dyrk1a Syndrome:

Name: Dyrk1a Syndrome 25 20
Dyrk1a-Related Intellectual Disability Syndrome 20 6
Autosomal Dominant Intellectual Disability-7 20

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 Syndrome

MalaCards based summary : Dyrk1a Syndrome, also known as dyrk1a-related intellectual disability syndrome, is related to mental retardation, autosomal dominant 7 and dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion. An important gene associated with Dyrk1a 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

Wikipedia : 73 Dual specificity tyrosine-phosphorylation-regulated kinase 1A is an enzyme that in humans is encoded by... more...

GeneReviews: NBK333438

Related Diseases for Dyrk1a Syndrome

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 mental retardation, autosomal dominant 7 11.4
2 dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion 11.4
3 intellectual disability syndrome due to a dyrk1a point mutation 11.4
4 cleft palate, isolated 10.2
5 strabismus 10.2
6 ocular albinism 10.2
7 myopia 10.2
8 mechanical strabismus 10.2
9 albinism 10.2
10 alacrima, achalasia, and mental retardation syndrome 9.9
11 autism spectrum disorder 9.9
12 microcephaly 9.9
13 constipation 9.9
14 febrile seizures 9.9
15 hypertonia 9.9

Graphical network of the top 20 diseases related to Dyrk1a Syndrome:



Diseases related to Dyrk1a Syndrome

Symptoms & Phenotypes for Dyrk1a Syndrome

Human phenotypes related to Dyrk1a Syndrome:

31 (show top 50) (show all 67)
# 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 stereotypy 31 frequent (33%) HP:0000733
9 intrauterine growth retardation 31 frequent (33%) HP:0001511
10 anxiety 31 frequent (33%) HP:0000739
11 ventriculomegaly 31 frequent (33%) HP:0002119
12 autistic behavior 31 frequent (33%) HP:0000729
13 small for gestational age 31 frequent (33%) HP:0001518
14 poor speech 31 frequent (33%) HP:0002465
15 congenital microcephaly 31 frequent (33%) HP:0011451
16 febrile seizure (within the age range of 3 months to 6 years) 31 frequent (33%) HP:0002373
17 corneal opacity 31 occasional (7.5%) HP:0007957
18 macrotia 31 occasional (7.5%) HP:0000400
19 gastroesophageal reflux 31 occasional (7.5%) HP:0002020
20 vomiting 31 occasional (7.5%) HP:0002013
21 intellectual disability, severe 31 occasional (7.5%) HP:0010864
22 cryptorchidism 31 occasional (7.5%) HP:0000028
23 myopia 31 occasional (7.5%) HP:0000545
24 multiple joint contractures 31 occasional (7.5%) HP:0002828
25 cerebral cortical atrophy 31 occasional (7.5%) HP:0002120
26 arachnodactyly 31 occasional (7.5%) HP:0001166
27 clinodactyly of the 5th finger 31 occasional (7.5%) HP:0004209
28 protruding ear 31 occasional (7.5%) HP:0000411
29 deeply set eye 31 occasional (7.5%) HP:0000490
30 amblyopia 31 occasional (7.5%) HP:0000646
31 prominent nasal bridge 31 occasional (7.5%) HP:0000426
32 toe syndactyly 31 occasional (7.5%) HP:0001770
33 astigmatism 31 occasional (7.5%) HP:0000483
34 hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0002079
35 optic disc pallor 31 occasional (7.5%) HP:0000543
36 recurrent infections 31 occasional (7.5%) HP:0002719
37 aortic regurgitation 31 occasional (7.5%) HP:0001659
38 hyperactivity 31 occasional (7.5%) HP:0000752
39 hypermetropia 31 occasional (7.5%) HP:0000540
40 anterior pituitary hypoplasia 31 occasional (7.5%) HP:0010627
41 exotropia 31 occasional (7.5%) HP:0000577
42 narrow forehead 31 occasional (7.5%) HP:0000341
43 polydactyly 31 occasional (7.5%) HP:0010442
44 hypoplasia of the brainstem 31 occasional (7.5%) HP:0002365
45 narrow nasal tip 31 occasional (7.5%) HP:0011832
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 pectus excavatum 31 very rare (1%) HP:0000767
50 micropenis 31 very rare (1%) HP:0000054

Drugs & Therapeutics for Dyrk1a Syndrome

Search Clinical Trials , NIH Clinical Center for Dyrk1a Syndrome

Genetic Tests for Dyrk1a Syndrome

Anatomical Context for Dyrk1a Syndrome

MalaCards organs/tissues related to Dyrk1a Syndrome:

40
Eye, Kidney, Breast, Pituitary

Publications for Dyrk1a Syndrome

Articles related to Dyrk1a Syndrome:

(show all 33)
# Title Authors PMID Year
1
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. 6 25
28053047 2017
2
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. 25 6
29034068 2017
3
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. 25 6
26922654 2016
4
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 6 25
25707398 2016
5
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 6 25
25944381 2015
6
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25 6
25920557 2015
7
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6 25
25741868 2015
8
Large-scale discovery of novel genetic causes of developmental disorders. 6 25
25533962 2015
9
DYRK1A mutations in two unrelated patients. 25 6
25641759 2015
10
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 6 25
25167861 2014
11
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. 6 25
23099646 2012
12
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 25 6
23160955 2012
13
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. 6 25
21294719 2011
14
Whole genome sequencing of 45 Japanese patients with intellectual disability. 6
33624935 2021
15
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. 6
27241786 2016
16
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
17
Clinical application of whole-exome sequencing across clinical indications. 6
26633542 2016
18
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6. 6
21204217 2011
19
A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay. 25
32555303 2020
20
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. 25
31263215 2019
21
A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report. 25
31803247 2019
22
The Genetics of Primary Microcephaly. 25
29799801 2018
23
Mutational analysis of two residues in the DYRK homology box of the protein kinase DYRK1A. 25
29764512 2018
24
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
25
Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features. 25
28496994 2017
26
Timing, rates and spectra of human germline mutation. 25
26656846 2016
27
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. 25
22548977 2012
28
Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A. 25
21031080 2010
29
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. 25
18405873 2008
30
Ocular Phenotype Associated with DYRK1A Variants. 61
33562844 2021
31
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. 61
33159716 2020
32
Ocular findings of albinism in DYRK1A-related intellectual disability syndrome. 61
32838606 2020
33
DYRK1A Syndrome 61
26677511 2015

Variations for Dyrk1a Syndrome

ClinVar genetic disease variations for Dyrk1a Syndrome:

6 (show top 50) (show all 218)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DYRK1A NC_000021.7:g.37796500_37849000del Deletion Pathogenic 30131 GRCh37: 21:38874630-38927130
GRCh38:
2 DYRK1A NM_001347721.2(DYRK1A):c.143_144del (p.Ile48fs) Deletion Pathogenic 39622 rs587776929 GRCh37: 21:38845117-38845118
GRCh38: 21:37472815-37472816
3 DYRK1A NM_001347721.2(DYRK1A):c.1071+1G>A SNV Pathogenic 39623 rs587776930 GRCh37: 21:38865466-38865466
GRCh38: 21:37493164-37493164
4 DYRK1A NM_001347721.2(DYRK1A):c.263_264del (p.Ser88fs) Deletion Pathogenic 418949 rs1064793546 GRCh37: 21:38850564-38850565
GRCh38: 21:37478262-37478263
5 overlap with 8 genes GRCh37/hg19 21q22.13-22.2(chr21:38741104..40274106) copy number loss Pathogenic 204002 GRCh37: 21:38741104-40274106
GRCh38:
6 overlap with 25 genes GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526) copy number loss Pathogenic 204003 GRCh37: 21:37839410-41427526
GRCh38:
7 DYRK1A NM_001347721.2(DYRK1A):c.285C>G (p.Tyr95Ter) SNV Pathogenic 204004 rs797044519 GRCh37: 21:38850587-38850587
GRCh38: 21:37478285-37478285
8 DYRK1A NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) SNV Pathogenic 162153 rs724159949 GRCh37: 21:38858865-38858865
GRCh38: 21:37486563-37486563
9 DYRK1A NM_001347721.2(DYRK1A):c.1372C>T (p.Arg458Ter) SNV Pathogenic 204005 rs797044520 GRCh37: 21:38877745-38877745
GRCh38: 21:37505442-37505442
10 DYRK1A NM_001347721.2(DYRK1A):c.434del (p.Lys145fs) Deletion Pathogenic 204006 rs797044521 GRCh37: 21:38853070-38853070
GRCh38: 21:37480768-37480768
11 DYRK1A NM_001347721.2(DYRK1A):c.1074_1077del (p.Asp359fs) Deletion Pathogenic 204007 rs797044522 GRCh37: 21:38868421-38868424
GRCh38: 21:37496119-37496122
12 DYRK1A NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs) Duplication Pathogenic 204008 rs797044523 GRCh37: 21:38853058-38853059
GRCh38: 21:37480756-37480757
13 DYRK1A NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) SNV Pathogenic 162158 rs724159953 GRCh37: 21:38877655-38877655
GRCh38: 21:37505352-37505352
14 DYRK1A NM_001347721.2(DYRK1A):c.1271_1272insT (p.Pro425fs) Insertion Pathogenic 210890 rs797045539 GRCh37: 21:38877644-38877645
GRCh38: 21:37505341-37505342
15 DYRK1A NM_001347721.2(DYRK1A):c.1612C>T (p.Gln538Ter) SNV Pathogenic 224154 rs869312708 GRCh37: 21:38878494-38878494
GRCh38: 21:37506191-37506191
16 DYRK1A NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter) Duplication Pathogenic 369658 rs1057516030 GRCh37: 21:38853087-38853088
GRCh38: 21:37480785-37480786
17 DYRK1A NM_001347721.2(DYRK1A):c.1464del (p.Ala489fs) Deletion Pathogenic 375629 rs1057519628 GRCh37: 21:38877834-38877834
GRCh38: 21:37505531-37505531
18 DYRK1A NM_001347721.2(DYRK1A):c.270_274del (p.Leu91fs) Deletion Pathogenic 375618 rs1057519402 GRCh37: 21:38850568-38850572
GRCh38: 21:37478266-37478270
19 DYRK1A NM_001347721.2(DYRK1A):c.905C>T (p.Ser302Phe) SNV Pathogenic 381574 rs1039571136 GRCh37: 21:38862744-38862744
GRCh38: 21:37490442-37490442
20 DYRK1A NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) SNV Pathogenic 373087 rs1057518204 GRCh37: 21:38852961-38852961
GRCh38: 21:37480659-37480659
21 DYRK1A NM_001347721.2(DYRK1A):c.1135dup (p.Ala379fs) Duplication Pathogenic 209151 rs797045042 GRCh37: 21:38868482-38868483
GRCh38: 21:37496180-37496181
22 DYRK1A NM_001347721.2(DYRK1A):c.833A>T (p.Asp278Val) SNV Pathogenic 437414 rs1555984343 GRCh37: 21:38862672-38862672
GRCh38: 21:37490370-37490370
23 DYRK1A NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) SNV Pathogenic 162152 rs724159948 GRCh37: 21:38862575-38862575
GRCh38: 21:37490273-37490273
24 DYRK1A NM_001347721.2(DYRK1A):c.284dup (p.Tyr95Ter) Duplication Pathogenic 472250 rs1555979158 GRCh37: 21:38850585-38850586
GRCh38: 21:37478283-37478284
25 DYRK1A NM_001347721.2(DYRK1A):c.910C>T (p.Gln304Ter) SNV Pathogenic 559653 rs1555984433 GRCh37: 21:38862749-38862749
GRCh38: 21:37490447-37490447
26 DYRK1A NM_001347721.2(DYRK1A):c.637+2T>C SNV Pathogenic 571196 rs1569371303 GRCh37: 21:38858918-38858918
GRCh38: 21:37486616-37486616
27 DYRK1A NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) SNV Pathogenic 423502 rs780441716 GRCh37: 21:38862503-38862503
GRCh38: 21:37490201-37490201
28 DYRK1A NM_001347721.2(DYRK1A):c.507dup (p.Arg170fs) Duplication Pathogenic 577532 rs1569370887 GRCh37: 21:38858785-38858786
GRCh38: 21:37486483-37486484
29 DYRK1A NC_000021.8:g.(?_38792657)_(38884854_?)del Deletion Pathogenic 584409 GRCh37: 21:38792657-38884854
GRCh38:
30 DYRK1A NM_001347721.2(DYRK1A):c.197_200TAAC[1] (p.Asn68fs) Microsatellite Pathogenic 598757 rs1569355102 GRCh37: 21:38845171-38845174
GRCh38: 21:37472869-37472872
31 DYRK1A NM_001347721.2(DYRK1A):c.334C>T (p.Gln112Ter) SNV Pathogenic 620014 rs1555980234 GRCh37: 21:38852973-38852973
GRCh38: 21:37480671-37480671
32 DYRK1A NM_001347721.2(DYRK1A):c.1069G>T (p.Glu357Ter) SNV Pathogenic 664970 rs1555985742 GRCh37: 21:38865463-38865463
GRCh38: 21:37493161-37493161
33 DYRK1A NM_001347721.2(DYRK1A):c.673_674CT[1] (p.Cys226fs) Microsatellite Pathogenic 666311 rs1601267617 GRCh37: 21:38862511-38862512
GRCh38: 21:37490209-37490210
34 DYRK1A NM_001347721.2(DYRK1A):c.1631_1632CA[2] (p.His545fs) Microsatellite Pathogenic 807597 rs1601319352 GRCh37: 21:38878512-38878513
GRCh38: 21:37506209-37506210
35 DYRK1A NM_001347721.2(DYRK1A):c.450C>G (p.Tyr150Ter) SNV Pathogenic 855931 GRCh37: 21:38853089-38853089
GRCh38: 21:37480787-37480787
36 DYRK1A NM_001347721.2(DYRK1A):c.1357_1358insTC (p.Tyr453fs) Insertion Pathogenic 931056 GRCh37: 21:38877730-38877731
GRCh38: 21:37505427-37505428
37 DYRK1A NM_001347721.2(DYRK1A):c.1289del (p.Ala430fs) Deletion Pathogenic 931464 GRCh37: 21:38877662-38877662
GRCh38: 21:37505359-37505359
38 DYRK1A NM_001347721.2(DYRK1A):c.1354_1357del (p.Asp452fs) Deletion Pathogenic 976301 GRCh37: 21:38877725-38877728
GRCh38: 21:37505422-37505425
39 DYRK1A NM_001347721.2(DYRK1A):c.931C>T (p.Gln311Ter) SNV Pathogenic 976371 GRCh37: 21:38865325-38865325
GRCh38: 21:37493023-37493023
40 DYRK1A NM_001347721.2(DYRK1A):c.980_981insCCCA (p.Met327fs) Insertion Pathogenic 976471 GRCh37: 21:38865374-38865375
GRCh38: 21:37493072-37493073
41 DYRK1A NM_001347721.2(DYRK1A):c.1378C>T (p.Gln460Ter) SNV Pathogenic 620200 rs1555990955 GRCh37: 21:38877751-38877751
GRCh38: 21:37505448-37505448
42 DYRK1A NM_001347721.2(DYRK1A):c.687del (p.Phe229fs) Deletion Pathogenic 984713 GRCh37: 21:38862522-38862522
GRCh38: 21:37490220-37490220
43 DYRK1A NC_000021.9:g.37347863_37423682del Deletion Pathogenic 981631 GRCh37: 21:38720165-38795984
GRCh38:
44 DYRK1A NM_001347721.2(DYRK1A):c.205C>T (p.Gln69Ter) SNV Pathogenic 975538 GRCh37: 21:38845180-38845180
GRCh38: 21:37472878-37472878
45 DYRK1A NM_001347721.2(DYRK1A):c.638-9_638-5del Deletion Pathogenic/Likely pathogenic 487250 rs1555984064 GRCh37: 21:38862466-38862470
GRCh38: 21:37490164-37490168
46 DYRK1A NM_001347721.2(DYRK1A):c.924+4_924+7del Deletion Pathogenic/Likely pathogenic 435011 rs1555984461 GRCh37: 21:38862764-38862767
GRCh38: 21:37490462-37490465
47 DYRK1A NM_001347721.2(DYRK1A):c.1010C>T (p.Ser337Phe) SNV Likely pathogenic 505359 rs1555985649 GRCh37: 21:38865404-38865404
GRCh38: 21:37493102-37493102
48 DYRK1A NM_001347721.2(DYRK1A):c.953A>G (p.Tyr318Cys) SNV Likely pathogenic 438288 rs1555985554 GRCh37: 21:38865347-38865347
GRCh38: 21:37493045-37493045
49 DYRK1A NM_001347721.2(DYRK1A):c.895T>G (p.Phe299Val) SNV Likely pathogenic 210898 rs797045540 GRCh37: 21:38862734-38862734
GRCh38: 21:37490432-37490432
50 DYRK1A NM_001347721.2(DYRK1A):c.856C>T (p.Leu286Phe) SNV Likely pathogenic 204011 rs797044526 GRCh37: 21:38862695-38862695
GRCh38: 21:37490393-37490393

Expression for Dyrk1a Syndrome

Search GEO for disease gene expression data for Dyrk1a Syndrome.

Pathways for Dyrk1a Syndrome

GO Terms for Dyrk1a Syndrome

Sources for Dyrk1a Syndrome

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