MRD7
MCID: MNT185
MIFTS: 44

Mental Retardation, Autosomal Dominant 7 (MRD7)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 7

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 7:

Name: Mental Retardation, Autosomal Dominant 7 57 72 29 13 6 70
Mrd7 57 12 72
Autosomal Dominant Non-Syndromic Intellectual Disability 7 12 15
Dyrk1a-Related Intellectual Disability Syndrome 58
Mental Retardation, Autosomal Dominant, Type 7 39
Autosomal Dominant Mental Retardation 7 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable features depending on age


HPO:

31
mental retardation, autosomal dominant 7:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, Autosomal Dominant 7

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 7: A disease characterized by primary microcephaly, severe mental retardation without speech, anxious autistic behavior, and dysmorphic features, including bitemporal narrowing, deep-set eyes, large simple ears, and a pointed nasal tip. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, Autosomal Dominant 7, also known as mrd7, is related to dyrk1a syndrome and dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion, and has symptoms including ataxia An important gene associated with Mental Retardation, Autosomal Dominant 7 is DYRK1A (Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A), and among its related pathways/superpathways is Neuroscience. Affiliated tissues include eye, pituitary and kidney, and related phenotypes are gait disturbance and macrotia

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.

More information from OMIM: 614104 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 7

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Recessive 18 Mental Retardation, Autosomal Dominant 10
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 13
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Dominant 41
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43
Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60
Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46
Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Diseases related to Mental Retardation, Autosomal Dominant 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 dyrk1a syndrome 11.6
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 alacrima, achalasia, and mental retardation syndrome 10.2
7 ocular albinism 10.2
8 microcephaly 10.2
9 myopia 10.2
10 mechanical strabismus 10.2
11 albinism 10.2
12 chromosomal duplication syndrome 9.8 KCNJ6 DYRK1A

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 7:



Diseases related to Mental Retardation, Autosomal Dominant 7

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 7

Human phenotypes related to Mental Retardation, Autosomal Dominant 7:

58 31 (show top 50) (show all 94)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 very rare (1%) Very frequent (99-80%) HP:0001288
2 macrotia 58 31 very rare (1%) Occasional (29-5%) HP:0000400
3 delayed speech and language development 58 31 very rare (1%) Very frequent (99-80%) HP:0000750
4 microcephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000252
5 intellectual disability, severe 58 31 very rare (1%) Occasional (29-5%) HP:0010864
6 intrauterine growth retardation 58 31 very rare (1%) Frequent (79-30%) HP:0001511
7 pectus excavatum 58 31 very rare (1%) Very rare (<4-1%) HP:0000767
8 cerebral cortical atrophy 58 31 very rare (1%) Occasional (29-5%) HP:0002120
9 deeply set eye 58 31 very rare (1%) Occasional (29-5%) HP:0000490
10 recurrent infections 58 31 very rare (1%) Occasional (29-5%) HP:0002719
11 small for gestational age 58 31 very rare (1%) Frequent (79-30%) HP:0001518
12 hyperactivity 58 31 very rare (1%) Occasional (29-5%) HP:0000752
13 ataxia 31 very rare (1%) HP:0001251
14 smooth philtrum 31 very rare (1%) HP:0000319
15 feeding difficulties in infancy 31 very rare (1%) HP:0008872
16 thick lower lip vermilion 31 very rare (1%) HP:0000179
17 autism 31 very rare (1%) HP:0000717
18 micrognathia 31 very rare (1%) HP:0000347
19 thin upper lip vermilion 31 very rare (1%) HP:0000219
20 bulbous nose 31 very rare (1%) HP:0000414
21 severe global developmental delay 31 very rare (1%) HP:0011344
22 hypotelorism 31 very rare (1%) HP:0000601
23 thickened helices 31 very rare (1%) HP:0000391
24 generalized hypotonia 31 very rare (1%) HP:0001290
25 inappropriate laughter 31 very rare (1%) HP:0000748
26 incoordination 31 very rare (1%) HP:0002311
27 birth length less than 3rd percentile 31 very rare (1%) HP:0003561
28 happy demeanor 31 very rare (1%) HP:0040082
29 stereotypical hand wringing 31 very rare (1%) HP:0012171
30 seizure 31 very rare (1%) HP:0001250
31 hallux valgus 58 31 Very rare (<4-1%) HP:0001822
32 narrow forehead 58 31 Occasional (29-5%) HP:0000341
33 intellectual disability 58 Very frequent (99-80%)
34 seizures 58 Frequent (79-30%)
35 failure to thrive 58 Frequent (79-30%)
36 scoliosis 58 Very rare (<4-1%)
37 kyphosis 58 Very rare (<4-1%)
38 global developmental delay 58 Very frequent (99-80%)
39 corneal opacity 58 Occasional (29-5%)
40 behavioral abnormality 58 Frequent (79-30%)
41 abnormal facial shape 58 Very frequent (99-80%)
42 visual impairment 58 Frequent (79-30%)
43 short stature 58 Very rare (<4-1%)
44 gastroesophageal reflux 58 Occasional (29-5%)
45 stereotypy 58 Frequent (79-30%)
46 vomiting 58 Occasional (29-5%)
47 strabismus 58 Occasional (29-5%)
48 cryptorchidism 58 Occasional (29-5%)
49 anxiety 58 Frequent (79-30%)
50 failure to thrive in infancy 31 HP:0001531

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
ataxia
febrile seizures
hypotonia
abnormal gait
developmental delay, severe
more
Head And Neck Face:
micrognathia

Head And Neck Eyes:
hypotelorism
deep-set eyes

Head And Neck Ears:
large ears
simple ears
thick helix

Growth Other:
intrauterine growth retardation (iugr)

Growth Height:
decreased birth length

Head And Neck Head:
microcephaly

Head And Neck Nose:
bulbous nose
pointed nose

Neurologic Behavioral Psychiatric Manifestations:
autistic behavior
hyperactivity
anxious behavior

Growth Weight:
low birth weight

Head And Neck Teeth:
prominent incisors

Clinical features from OMIM®:

614104 (Updated 20-May-2021)

UMLS symptoms related to Mental Retardation, Autosomal Dominant 7:


ataxia

GenomeRNAi Phenotypes related to Mental Retardation, Autosomal Dominant 7 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.16 DYRK1A DYRK1B
2 Decreased mitotic index GR00110-A-0 8.65 DYRK1A
3 Decreased substrate adherent cell growth GR00193-A-4 8.62 DYRK3 DYRK4

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 7

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 7

Genetic Tests for Mental Retardation, Autosomal Dominant 7

Genetic tests related to Mental Retardation, Autosomal Dominant 7:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 7 29 DYRK1A

Anatomical Context for Mental Retardation, Autosomal Dominant 7

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 7:

40
Eye, Pituitary, Kidney, Breast

Publications for Mental Retardation, Autosomal Dominant 7

Articles related to Mental Retardation, Autosomal Dominant 7:

(show all 24)
# Title Authors PMID Year
1
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. 57 6
23099646 2012
2
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 6 57
23160955 2012
3
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. 57 6
21294719 2011
4
Whole genome sequencing of 45 Japanese patients with intellectual disability. 6
33624935 2021
5
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. 6
28053047 2017
6
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. 6
29034068 2017
7
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. 6
27241786 2016
8
Clinical application of whole-exome sequencing across clinical indications. 6
26633542 2016
9
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
10
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. 6
26922654 2016
11
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. 6
25707398 2016
12
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 6
25920557 2015
13
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 6
25944381 2015
14
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
25741868 2015
15
Large-scale discovery of novel genetic causes of developmental disorders. 6
25533962 2015
16
DYRK1A mutations in two unrelated patients. 6
25641759 2015
17
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 6
25167861 2014
18
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6. 6
21204217 2011
19
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. 57
18405873 2008
20
Possible narrowed assignment of the loci of monosomy 21-associated microcephaly and intrauterine growth retardation to a 1.2-Mb segment at 21q22.2. 57
9106547 1997
21
DYRK1A and cognition: A lifelong relationship. 61
30268771 2019
22
A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report. 61
31803247 2019
23
Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism. 61
29700199 2018
24
DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down Syndrome. 61
27375444 2016

Variations for Mental Retardation, Autosomal Dominant 7

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 7:

6 (show top 50) (show all 227)
# 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.1372C>T (p.Arg458Ter) SNV Pathogenic 204005 rs797044520 GRCh37: 21:38877745-38877745
GRCh38: 21:37505442-37505442
9 DYRK1A NM_001347721.2(DYRK1A):c.1074_1077del (p.Asp359fs) Deletion Pathogenic 204007 rs797044522 GRCh37: 21:38868421-38868424
GRCh38: 21:37496119-37496122
10 DYRK1A NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs) Duplication Pathogenic 204008 rs797044523 GRCh37: 21:38853058-38853059
GRCh38: 21:37480756-37480757
11 DYRK1A NM_001347721.2(DYRK1A):c.1271_1272insT (p.Pro425fs) Insertion Pathogenic 210890 rs797045539 GRCh37: 21:38877644-38877645
GRCh38: 21:37505341-37505342
12 DYRK1A NM_001347721.2(DYRK1A):c.1612C>T (p.Gln538Ter) SNV Pathogenic 224154 rs869312708 GRCh37: 21:38878494-38878494
GRCh38: 21:37506191-37506191
13 DYRK1A NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter) Duplication Pathogenic 369658 rs1057516030 GRCh37: 21:38853087-38853088
GRCh38: 21:37480785-37480786
14 DYRK1A NM_001347721.2(DYRK1A):c.1464del (p.Ala489fs) Deletion Pathogenic 375629 rs1057519628 GRCh37: 21:38877834-38877834
GRCh38: 21:37505531-37505531
15 DYRK1A NM_001347721.2(DYRK1A):c.270_274del (p.Leu91fs) Deletion Pathogenic 375618 rs1057519402 GRCh37: 21:38850568-38850572
GRCh38: 21:37478266-37478270
16 DYRK1A NM_001347721.2(DYRK1A):c.905C>T (p.Ser302Phe) SNV Pathogenic 381574 rs1039571136 GRCh37: 21:38862744-38862744
GRCh38: 21:37490442-37490442
17 DYRK1A NM_001347721.2(DYRK1A):c.833A>T (p.Asp278Val) SNV Pathogenic 437414 rs1555984343 GRCh37: 21:38862672-38862672
GRCh38: 21:37490370-37490370
18 DYRK1A NM_001347721.2(DYRK1A):c.1135dup (p.Ala379fs) Duplication Pathogenic 209151 rs797045042 GRCh37: 21:38868482-38868483
GRCh38: 21:37496180-37496181
19 DYRK1A NM_001347721.2(DYRK1A):c.284dup (p.Tyr95Ter) Duplication Pathogenic 472250 rs1555979158 GRCh37: 21:38850585-38850586
GRCh38: 21:37478283-37478284
20 DYRK1A NM_001347721.2(DYRK1A):c.910C>T (p.Gln304Ter) SNV Pathogenic 559653 rs1555984433 GRCh37: 21:38862749-38862749
GRCh38: 21:37490447-37490447
21 DYRK1A NM_001347721.2(DYRK1A):c.637+2T>C SNV Pathogenic 571196 rs1569371303 GRCh37: 21:38858918-38858918
GRCh38: 21:37486616-37486616
22 DYRK1A NM_001347721.2(DYRK1A):c.507dup (p.Arg170fs) Duplication Pathogenic 577532 rs1569370887 GRCh37: 21:38858785-38858786
GRCh38: 21:37486483-37486484
23 DYRK1A NC_000021.8:g.(?_38792657)_(38884854_?)del Deletion Pathogenic 584409 GRCh37: 21:38792657-38884854
GRCh38:
24 DYRK1A NM_001347721.2(DYRK1A):c.197_200TAAC[1] (p.Asn68fs) Microsatellite Pathogenic 598757 rs1569355102 GRCh37: 21:38845171-38845174
GRCh38: 21:37472869-37472872
25 DYRK1A NM_001347721.2(DYRK1A):c.334C>T (p.Gln112Ter) SNV Pathogenic 620014 rs1555980234 GRCh37: 21:38852973-38852973
GRCh38: 21:37480671-37480671
26 DYRK1A NM_001347721.2(DYRK1A):c.1069G>T (p.Glu357Ter) SNV Pathogenic 664970 rs1555985742 GRCh37: 21:38865463-38865463
GRCh38: 21:37493161-37493161
27 DYRK1A NM_001347721.2(DYRK1A):c.673_674CT[1] (p.Cys226fs) Microsatellite Pathogenic 666311 rs1601267617 GRCh37: 21:38862511-38862512
GRCh38: 21:37490209-37490210
28 DYRK1A NM_001347721.2(DYRK1A):c.1631_1632CA[2] (p.His545fs) Microsatellite Pathogenic 807597 rs1601319352 GRCh37: 21:38878512-38878513
GRCh38: 21:37506209-37506210
29 DYRK1A NM_001347721.2(DYRK1A):c.450C>G (p.Tyr150Ter) SNV Pathogenic 855931 GRCh37: 21:38853089-38853089
GRCh38: 21:37480787-37480787
30 DYRK1A NM_001347721.2(DYRK1A):c.1357_1358insTC (p.Tyr453fs) Insertion Pathogenic 931056 GRCh37: 21:38877730-38877731
GRCh38: 21:37505427-37505428
31 DYRK1A NM_001347721.2(DYRK1A):c.1289del (p.Ala430fs) Deletion Pathogenic 931464 GRCh37: 21:38877662-38877662
GRCh38: 21:37505359-37505359
32 DYRK1A NM_001347721.2(DYRK1A):c.1354_1357del (p.Asp452fs) Deletion Pathogenic 976301 GRCh37: 21:38877725-38877728
GRCh38: 21:37505422-37505425
33 DYRK1A NM_001347721.2(DYRK1A):c.931C>T (p.Gln311Ter) SNV Pathogenic 976371 GRCh37: 21:38865325-38865325
GRCh38: 21:37493023-37493023
34 DYRK1A NM_001347721.2(DYRK1A):c.980_981insCCCA (p.Met327fs) Insertion Pathogenic 976471 GRCh37: 21:38865374-38865375
GRCh38: 21:37493072-37493073
35 DYRK1A NM_001347721.2(DYRK1A):c.1378C>T (p.Gln460Ter) SNV Pathogenic 620200 rs1555990955 GRCh37: 21:38877751-38877751
GRCh38: 21:37505448-37505448
36 DYRK1A NM_001347721.2(DYRK1A):c.687del (p.Phe229fs) Deletion Pathogenic 984713 GRCh37: 21:38862522-38862522
GRCh38: 21:37490220-37490220
37 DYRK1A NC_000021.9:g.37347863_37423682del Deletion Pathogenic 981631 GRCh37: 21:38720165-38795984
GRCh38:
38 DYRK1A NM_001347721.2(DYRK1A):c.205C>T (p.Gln69Ter) SNV Pathogenic 975538 GRCh37: 21:38845180-38845180
GRCh38: 21:37472878-37472878
39 DYRK1A NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) SNV Pathogenic 162153 rs724159949 GRCh37: 21:38858865-38858865
GRCh38: 21:37486563-37486563
40 DYRK1A NM_001347721.2(DYRK1A):c.434del (p.Lys145fs) Deletion Pathogenic 204006 rs797044521 GRCh37: 21:38853070-38853070
GRCh38: 21:37480768-37480768
41 DYRK1A NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) SNV Pathogenic 162158 rs724159953 GRCh37: 21:38877655-38877655
GRCh38: 21:37505352-37505352
42 DYRK1A NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) SNV Pathogenic 373087 rs1057518204 GRCh37: 21:38852961-38852961
GRCh38: 21:37480659-37480659
43 DYRK1A NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) SNV Pathogenic 162152 rs724159948 GRCh37: 21:38862575-38862575
GRCh38: 21:37490273-37490273
44 DYRK1A NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) SNV Pathogenic 423502 rs780441716 GRCh37: 21:38862503-38862503
GRCh38: 21:37490201-37490201
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.1378del (p.Gln460fs) Deletion Likely pathogenic 435013 rs1555990958 GRCh37: 21:38877751-38877751
GRCh38: 21:37505448-37505448
48 DYRK1A NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln) SNV Likely pathogenic 209150 rs797045041 GRCh37: 21:38877746-38877746
GRCh38: 21:37505443-37505443
49 DYRK1A NM_001347721.2(DYRK1A):c.471del (p.Gly159fs) Deletion Likely pathogenic 976047 GRCh37: 21:38853110-38853110
GRCh38: 21:37480808-37480808
50 DYRK1A NM_001347721.2(DYRK1A):c.536_538del (p.Lys179del) Deletion Likely pathogenic 916033 GRCh37: 21:38858814-38858816
GRCh38: 21:37486512-37486514

Expression for Mental Retardation, Autosomal Dominant 7

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 7.

Pathways for Mental Retardation, Autosomal Dominant 7

Pathways related to Mental Retardation, Autosomal Dominant 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.33 KCNJ6 DYRK1B DYRK1A

GO Terms for Mental Retardation, Autosomal Dominant 7

Cellular components related to Mental Retardation, Autosomal Dominant 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.23 SETD4 OLIG1 DYRK4 DYRK3 DYRK1B DYRK1A
2 nuclear speck GO:0016607 9.13 DYRK3 DYRK1A CCNL2

Biological processes related to Mental Retardation, Autosomal Dominant 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.67 DYRK4 DYRK3 DYRK1B DYRK1A
2 protein phosphorylation GO:0006468 9.62 DYRK4 DYRK3 DYRK1B DYRK1A
3 peptidyl-serine phosphorylation GO:0018105 9.46 DYRK4 DYRK3 DYRK1B DYRK1A
4 negative regulation of DNA damage response, signal transduction by p53 class mediator GO:0043518 9.26 DYRK3 DYRK1A
5 peptidyl-tyrosine phosphorylation GO:0018108 9.26 DYRK4 DYRK3 DYRK1B DYRK1A
6 peptidyl-threonine phosphorylation GO:0018107 8.92 DYRK4 DYRK3 DYRK1B DYRK1A

Molecular functions related to Mental Retardation, Autosomal Dominant 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.77 SETD4 DYRK4 DYRK3 DYRK1B DYRK1A
2 kinase activity GO:0016301 9.62 DYRK4 DYRK3 DYRK1B DYRK1A
3 protein kinase activity GO:0004672 9.56 DYRK4 DYRK3 DYRK1B DYRK1A
4 protein serine/threonine kinase activity GO:0004674 9.46 DYRK4 DYRK3 DYRK1B DYRK1A
5 protein tyrosine kinase activity GO:0004713 9.26 DYRK4 DYRK3 DYRK1B DYRK1A
6 protein serine/threonine/tyrosine kinase activity GO:0004712 8.92 DYRK4 DYRK3 DYRK1B DYRK1A

Sources for Mental Retardation, Autosomal Dominant 7

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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