MRD7
MCID: MNT185
MIFTS: 30

Mental Retardation, Autosomal Dominant 7 (MRD7)

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 7

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 7:

Name: Mental Retardation, Autosomal Dominant 7 58 76 30 13 6 74
Mrd7 58 12 76
Autosomal Dominant Non-Syndromic Intellectual Disability 7 12 15
Dyrk1a-Related Intellectual Disability Syndrome 60
Mental Retardation, Autosomal Dominant, Type 7 41
Autosomal Dominant Mental Retardation 7 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable features depending on age


HPO:

33
mental retardation, autosomal dominant 7:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 7

UniProtKB/Swiss-Prot : 76 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-related intellectual disability 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). Affiliated tissues include eye, skin and bone, and related phenotypes are pectus excavatum and seizures

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.

Description from OMIM: 614104

Related Diseases for Mental Retardation, Autosomal Dominant 7

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
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 Dominant 18
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 24
Mental Retardation, Autosomal Dominant 26 Mental Retardation, Autosomal Dominant 27
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 Dominant 32
Mental Retardation, Autosomal Recessive 48 Mental Retardation, Autosomal Recessive 49
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 55
Mental Retardation, Autosomal Dominant 44 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 Dominant 49 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:

# Related Disease Score Top Affiliating Genes
1 dyrk1a-related intellectual disability syndrome 12.4
2 dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion 12.4
3 intellectual disability syndrome due to a dyrk1a point mutation 11.3

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 7

Human phenotypes related to Mental Retardation, Autosomal Dominant 7:

33 (show all 35)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 33 very rare (1%) HP:0000767
2 seizures 33 very rare (1%) HP:0001250
3 ataxia 33 very rare (1%) HP:0001251
4 gait disturbance 33 very rare (1%) HP:0001288
5 macrotia 33 very rare (1%) HP:0000400
6 delayed speech and language development 33 very rare (1%) HP:0000750
7 microcephaly 33 very rare (1%) HP:0000252
8 smooth philtrum 33 very rare (1%) HP:0000319
9 feeding difficulties in infancy 33 very rare (1%) HP:0008872
10 intellectual disability, severe 33 very rare (1%) HP:0010864
11 micrognathia 33 very rare (1%) HP:0000347
12 thick lower lip vermilion 33 very rare (1%) HP:0000179
13 severe global developmental delay 33 very rare (1%) HP:0011344
14 autism 33 very rare (1%) HP:0000717
15 intrauterine growth retardation 33 very rare (1%) HP:0001511
16 cerebral cortical atrophy 33 very rare (1%) HP:0002120
17 deeply set eye 33 very rare (1%) HP:0000490
18 bulbous nose 33 very rare (1%) HP:0000414
19 recurrent infections 33 very rare (1%) HP:0002719
20 thin upper lip vermilion 33 very rare (1%) HP:0000219
21 hypotelorism 33 very rare (1%) HP:0000601
22 thickened helices 33 very rare (1%) HP:0000391
23 generalized hypotonia 33 very rare (1%) HP:0001290
24 hyperactivity 33 very rare (1%) HP:0000752
25 incoordination 33 very rare (1%) HP:0002311
26 small for gestational age 33 very rare (1%) HP:0001518
27 happy demeanor 33 very rare (1%) HP:0040082
28 birth length less than 3rd percentile 33 very rare (1%) HP:0003561
29 inappropriate laughter 33 very rare (1%) HP:0000748
30 stereotypical hand wringing 33 very rare (1%) HP:0012171
31 failure to thrive in infancy 33 HP:0001531
32 abnormality of the pinna 33 HP:0000377
33 febrile seizures 33 HP:0002373
34 hallux valgus 33 HP:0001822
35 narrow forehead 33 HP:0000341

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
febrile seizures
hypotonia
developmental delay, severe
mental retardation, 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

UMLS symptoms related to Mental Retardation, Autosomal Dominant 7:


ataxia

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 30 DYRK1A

Anatomical Context for Mental Retardation, Autosomal Dominant 7

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

42
Eye, Skin, Bone

Publications for Mental Retardation, Autosomal Dominant 7

Articles related to Mental Retardation, Autosomal Dominant 7:

# Title Authors Year
1
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. ( 23099646 )
2012
2
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. ( 23160955 )
2012
3
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. ( 21294719 )
2011

Variations for Mental Retardation, Autosomal Dominant 7

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

6 (show top 50) (show all 179)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYRK1A NC_000021.8: g.38874630_38927130del52501 deletion Pathogenic NCBI36 Chromosome 21, 37796500: 37849000
2 DYRK1A NC_000021.8: g.38874630_38927130del52501 deletion Pathogenic GRCh37 Chromosome 21, 38874630: 38927130
3 DYRK1A NM_001396.3(DYRK1A): c.142_143delAT (p.Ile48Lysfs) deletion Pathogenic rs587776929 GRCh37 Chromosome 21, 38845117: 38845118
4 DYRK1A NM_001396.3(DYRK1A): c.142_143delAT (p.Ile48Lysfs) deletion Pathogenic rs587776929 GRCh38 Chromosome 21, 37472815: 37472816
5 DYRK1A NM_001396.3(DYRK1A): c.1098+1G> A single nucleotide variant Pathogenic rs587776930 GRCh37 Chromosome 21, 38865466: 38865466
6 DYRK1A NM_001396.3(DYRK1A): c.1098+1G> A single nucleotide variant Pathogenic rs587776930 GRCh38 Chromosome 21, 37493164: 37493164
7 DYRK1A NM_001396.3(DYRK1A): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs724159949 GRCh38 Chromosome 21, 37486563: 37486563
8 DYRK1A NM_001396.3(DYRK1A): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs724159949 GRCh37 Chromosome 21, 38858865: 38858865
9 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh38 Chromosome 21, 37490273: 37490273
10 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh37 Chromosome 21, 38862575: 38862575
11 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh38 Chromosome 21, 37505352: 37505352
12 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh37 Chromosome 21, 38877655: 38877655
13 DYRK1A NM_001396.3(DYRK1A): c.312C> G (p.Tyr104Ter) single nucleotide variant Pathogenic rs797044519 GRCh38 Chromosome 21, 37478285: 37478285
14 DYRK1A NM_001396.3(DYRK1A): c.312C> G (p.Tyr104Ter) single nucleotide variant Pathogenic rs797044519 GRCh37 Chromosome 21, 38850587: 38850587
15 DYRK1A NM_001396.4(DYRK1A): c.452dup (p.Asn151Lysfs) duplication Pathogenic rs797044523 GRCh38 Chromosome 21, 37480762: 37480762
16 DYRK1A NM_001396.4(DYRK1A): c.452dup (p.Asn151Lysfs) duplication Pathogenic rs797044523 GRCh37 Chromosome 21, 38853064: 38853064
17 DYRK1A NM_001396.3(DYRK1A): c.461delA (p.Lys154Serfs) deletion Pathogenic rs797044521 GRCh38 Chromosome 21, 37480771: 37480771
18 DYRK1A NM_001396.3(DYRK1A): c.461delA (p.Lys154Serfs) deletion Pathogenic rs797044521 GRCh37 Chromosome 21, 38853073: 38853073
19 DYRK1A NM_001396.3(DYRK1A): c.563A> T (p.Lys188Ile) single nucleotide variant Likely pathogenic rs797044524 GRCh37 Chromosome 21, 38858815: 38858815
20 DYRK1A NM_001396.3(DYRK1A): c.563A> T (p.Lys188Ile) single nucleotide variant Likely pathogenic rs797044524 GRCh38 Chromosome 21, 37486513: 37486513
21 DYRK1A NM_001396.3(DYRK1A): c.734T> G (p.Leu245Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs797044525 GRCh38 Chromosome 21, 37490244: 37490244
22 DYRK1A NM_001396.3(DYRK1A): c.734T> G (p.Leu245Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs797044525 GRCh37 Chromosome 21, 38862546: 38862546
23 DYRK1A NM_001396.3(DYRK1A): c.883C> T (p.Leu295Phe) single nucleotide variant Pathogenic/Likely pathogenic rs797044526 GRCh38 Chromosome 21, 37490393: 37490393
24 DYRK1A NM_001396.3(DYRK1A): c.883C> T (p.Leu295Phe) single nucleotide variant Pathogenic/Likely pathogenic rs797044526 GRCh37 Chromosome 21, 38862695: 38862695
25 DYRK1A NM_001396.3(DYRK1A): c.1101_1104delAGAT (p.Asp368Argfs) deletion Pathogenic rs797044522 GRCh37 Chromosome 21, 38868422: 38868425
26 DYRK1A NM_001396.3(DYRK1A): c.1101_1104delAGAT (p.Asp368Argfs) deletion Pathogenic rs797044522 GRCh38 Chromosome 21, 37496120: 37496123
27 DYRK1A NM_001396.3(DYRK1A): c.1399C> T (p.Arg467Ter) single nucleotide variant Pathogenic rs797044520 GRCh38 Chromosome 21, 37505442: 37505442
28 DYRK1A NM_001396.3(DYRK1A): c.1399C> T (p.Arg467Ter) single nucleotide variant Pathogenic rs797044520 GRCh37 Chromosome 21, 38877745: 38877745
29 DSCR4; DSCR8; DYRK1A; ERG; ETS2; KCNJ15; KCNJ6; LINC00114 GRCh37/hg19 21q22.13-22.2(chr21: 38741104..40274106) copy number loss Pathogenic GRCh37 Chromosome 21, 38741104: 40274106
30 subset of 25 genes:DSCAM; DYRK1A GRCh37/hg19 21q22.13-22.2(chr21: 37839410..41427526) copy number loss Pathogenic GRCh37 Chromosome 21, 37839410: 41427526
31 DYRK1A NM_001396.4(DYRK1A): c.1162dup (p.Ala388Glyfs) duplication Pathogenic rs797045042 GRCh37 Chromosome 21, 38868483: 38868483
32 DYRK1A NM_001396.4(DYRK1A): c.1162dup (p.Ala388Glyfs) duplication Pathogenic rs797045042 GRCh38 Chromosome 21, 37496181: 37496181
33 DYRK1A NM_001396.3(DYRK1A): c.1400G> A (p.Arg467Gln) single nucleotide variant Pathogenic/Likely pathogenic rs797045041 GRCh37 Chromosome 21, 38877746: 38877746
34 DYRK1A NM_001396.3(DYRK1A): c.1400G> A (p.Arg467Gln) single nucleotide variant Pathogenic/Likely pathogenic rs797045041 GRCh38 Chromosome 21, 37505443: 37505443
35 DYRK1A NM_001396.3(DYRK1A): c.516+9A> G single nucleotide variant Benign/Likely benign rs187936450 GRCh37 Chromosome 21, 38853137: 38853137
36 DYRK1A NM_001396.3(DYRK1A): c.516+9A> G single nucleotide variant Benign/Likely benign rs187936450 GRCh38 Chromosome 21, 37480835: 37480835
37 DYRK1A NM_001396.3(DYRK1A): c.922T> G (p.Phe308Val) single nucleotide variant Likely pathogenic rs797045540 GRCh37 Chromosome 21, 38862734: 38862734
38 DYRK1A NM_001396.3(DYRK1A): c.922T> G (p.Phe308Val) single nucleotide variant Likely pathogenic rs797045540 GRCh38 Chromosome 21, 37490432: 37490432
39 DYRK1A NM_001396.4(DYRK1A): c.1298_1299insT (p.Pro434Thrfs) insertion Pathogenic rs797045539 GRCh37 Chromosome 21, 38877644: 38877645
40 DYRK1A NM_001396.4(DYRK1A): c.1298_1299insT (p.Pro434Thrfs) insertion Pathogenic rs797045539 GRCh38 Chromosome 21, 37505341: 37505342
41 DYRK1A NM_001396.3(DYRK1A): c.2035G> C (p.Ala679Pro) single nucleotide variant Benign/Likely benign rs55720916 GRCh37 Chromosome 21, 38884577: 38884577
42 DYRK1A NM_001396.3(DYRK1A): c.2035G> C (p.Ala679Pro) single nucleotide variant Benign/Likely benign rs55720916 GRCh38 Chromosome 21, 37512274: 37512274
43 DYRK1A NM_101395.2(DYRK1A): c.208-1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs552103257 GRCh38 Chromosome 21, 37478180: 37478180
44 DYRK1A NM_101395.2(DYRK1A): c.208-1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs552103257 GRCh37 Chromosome 21, 38850482: 38850482
45 DYRK1A NM_001396.3(DYRK1A): c.1639C> T (p.Gln547Ter) single nucleotide variant Pathogenic/Likely pathogenic rs869312708 GRCh37 Chromosome 21, 38878494: 38878494
46 DYRK1A NM_001396.3(DYRK1A): c.1639C> T (p.Gln547Ter) single nucleotide variant Pathogenic/Likely pathogenic rs869312708 GRCh38 Chromosome 21, 37506191: 37506191
47 DYRK1A NM_001396.4(DYRK1A): c.476dupA (p.Tyr159Terfs) insertion Pathogenic rs1057516030 GRCh37 Chromosome 21, 38853088: 38853088
48 DYRK1A NM_001396.4(DYRK1A): c.476dupA (p.Tyr159Terfs) insertion Pathogenic rs1057516030 GRCh38 Chromosome 21, 37480786: 37480786
49 DYRK1A NM_001396.4(DYRK1A): c.349C> T (p.Arg117Ter) single nucleotide variant Pathogenic rs1057518204 GRCh37 Chromosome 21, 38852961: 38852961
50 DYRK1A NM_001396.4(DYRK1A): c.349C> T (p.Arg117Ter) single nucleotide variant Pathogenic rs1057518204 GRCh38 Chromosome 21, 37480659: 37480659

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

GO Terms for Mental Retardation, Autosomal Dominant 7

Sources for Mental Retardation, Autosomal Dominant 7

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