MCID: DYR002
MIFTS: 19

Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dyrk1a-Related Intellectual Disability Syndrome Due to...

MalaCards integrated aliases for Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion:

Name: Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion 58
21q22.13q22.2 Microdeletion Syndrome 58
Monosomy 21q22.13q22.2 58
Del(21)(q22.13q22.2) 58

Characteristics:

Orphanet epidemiological data:

58
dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Dyrk1a-Related Intellectual Disability Syndrome Due to...

MalaCards based summary : Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion, is also known as 21q22.13q22.2 microdeletion syndrome. An important gene associated with Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion is DYRK1A (Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A). Affiliated tissues include eye, brain and breast, and related phenotypes are global developmental delay and abnormal facial shape

Related Diseases for Dyrk1a-Related Intellectual Disability Syndrome Due to...

Symptoms & Phenotypes for Dyrk1a-Related Intellectual Disability Syndrome Due to...

Human phenotypes related to Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion:

58 31 (show top 50) (show all 101)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
3 brain imaging abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0410263
4 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
5 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
6 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
7 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
8 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
9 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
10 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
11 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
12 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
13 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
14 broad-based gait 58 31 frequent (33%) Frequent (79-30%) HP:0002136
15 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
16 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
17 posterior pituitary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0011757
18 cns hypomyelination 58 31 frequent (33%) Frequent (79-30%) HP:0003429
19 hypoplasia of the brainstem 58 31 frequent (33%) Frequent (79-30%) HP:0002365
20 2-4 toe cutaneous syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0005768
21 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
22 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
23 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
24 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
25 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
26 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
27 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
28 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
29 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
30 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
31 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
32 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
33 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
34 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
35 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
36 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
37 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
38 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
39 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
40 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
41 hallux valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001822
42 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
43 underdeveloped nasal alae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000430
44 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
45 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
46 unilateral renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000122
47 shawl scrotum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000049
48 poor suck 58 31 occasional (7.5%) Occasional (29-5%) HP:0002033
49 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
50 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718

Drugs & Therapeutics for Dyrk1a-Related Intellectual Disability Syndrome Due to...

Search Clinical Trials , NIH Clinical Center for Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion

Genetic Tests for Dyrk1a-Related Intellectual Disability Syndrome Due to...

Anatomical Context for Dyrk1a-Related Intellectual Disability Syndrome Due to...

MalaCards organs/tissues related to Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion:

40
Eye, Brain, Breast, Pituitary, Heart

Publications for Dyrk1a-Related Intellectual Disability Syndrome Due to...

Variations for Dyrk1a-Related Intellectual Disability Syndrome Due to...

Expression for Dyrk1a-Related Intellectual Disability Syndrome Due to...

Search GEO for disease gene expression data for Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion.

Pathways for Dyrk1a-Related Intellectual Disability Syndrome Due to...

GO Terms for Dyrk1a-Related Intellectual Disability Syndrome Due to...

Sources for Dyrk1a-Related Intellectual Disability Syndrome Due to...

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
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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