MCID: INT307
MIFTS: 19

Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Categories: Blood diseases, Ear diseases, Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

MalaCards integrated aliases for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation:

Name: Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 58 6
Dyrk1a-Related Intellectual Disability Syndrome Due to a Point Mutation 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

MalaCards based summary : Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation, is also known as dyrk1a-related intellectual disability syndrome due to a point mutation. An important gene associated with Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation is DYRK1A (Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A). Affiliated tissues include eye, pituitary and brain, and related phenotypes are intellectual disability and global developmental delay

Related Diseases for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Symptoms & Phenotypes for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Human phenotypes related to Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation:

58 31 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
6 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
7 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
8 stereotypy 58 31 frequent (33%) Frequent (79-30%) HP:0000733
9 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
10 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
11 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
12 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
13 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
14 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
15 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
16 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
17 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
18 birth length less than 3rd percentile 58 31 frequent (33%) Frequent (79-30%) HP:0003561
19 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
20 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
21 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
22 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
23 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
24 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
25 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
26 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
27 short toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0001831
28 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
29 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
30 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
31 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
32 tapered finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001182
33 short foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001773
34 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
35 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
36 optic disc pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000543
37 ankle flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0006466
38 abnormality of the cervical spine 58 31 occasional (7.5%) Occasional (29-5%) HP:0003319
39 recurrent infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002719
40 flexion contracture of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0012785
41 abnormality of brainstem morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002363
42 hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000540
43 exotropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000577
44 narrow forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000341
45 posterior pituitary hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011757
46 simple febrile seizure 31 occasional (7.5%) HP:0011171
47 cryptorchidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000028
48 retinal detachment 58 31 very rare (1%) Very rare (<4-1%) HP:0000541
49 micropenis 58 31 very rare (1%) Very rare (<4-1%) HP:0000054
50 polyhydramnios 58 31 very rare (1%) Very rare (<4-1%) HP:0001561

Drugs & Therapeutics for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Search Clinical Trials , NIH Clinical Center for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Genetic Tests for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Anatomical Context for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

MalaCards organs/tissues related to Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation:

40
Eye, Pituitary, Brain, Kidney

Publications for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Variations for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

ClinVar genetic disease variations for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DYRK1A NM_001347721.2(DYRK1A):c.1430G>A (p.Gly477Asp) SNV Uncertain significance 523623 rs1555991030 GRCh37: 21:38877803-38877803
GRCh38: 21:37505500-37505500

Expression for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Search GEO for disease gene expression data for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation.

Pathways for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

GO Terms for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Sources for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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