MCID: MNT185
MIFTS: 28

Mental Retardation, Autosomal Dominant 7

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Skin diseases, Gastrointestinal 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 75 29 13 6 73
Mrd7 57 12 75
Autosomal Dominant Non-Syndromic Intellectual Disability 7 12
Dyrk1a-Related Intellectual Disability Syndrome 59
Mental Retardation, Autosomal Dominant, Type 7 40
Autosomal Dominant Mental Retardation 7 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable features depending on age


HPO:

32
mental retardation, autosomal dominant 7:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 7

UniProtKB/Swiss-Prot : 75 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, and related phenotypes are microcephaly and narrow forehead

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 Dominant 19 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 Autosomal Dominant Mental Retardation 55
Autosomal Dominant Mental Retardation 61

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 12.2
3 intellectual disability syndrome due to a dyrk1a point mutation 11.1
4 alacrima, achalasia, and mental retardation syndrome 10.1

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 7

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Mental Retardation, Autosomal Dominant 7:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 narrow forehead 32 HP:0000341
3 micrognathia 32 HP:0000347
4 thickened helices 32 HP:0000391
5 macrotia 32 HP:0000400
6 bulbous nose 32 HP:0000414
7 deeply set eye 32 HP:0000490
8 hypotelorism 32 HP:0000601
9 autism 32 HP:0000717
10 delayed speech and language development 32 HP:0000750
11 hyperactivity 32 HP:0000752
12 intellectual disability 32 HP:0001249
13 ataxia 32 HP:0001251
14 gait disturbance 32 HP:0001288
15 generalized hypotonia 32 HP:0001290
16 intrauterine growth retardation 32 HP:0001511
17 small for gestational age 32 HP:0001518
18 failure to thrive in infancy 32 HP:0001531
19 hallux valgus 32 HP:0001822
20 cerebral cortical atrophy 32 HP:0002120
21 febrile seizures 32 HP:0002373
22 intellectual disability, severe 32 HP:0010864
23 severe global developmental delay 32 HP:0011344

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 29 DYRK1A

Anatomical Context for Mental Retardation, Autosomal Dominant 7

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

41
Eye

Publications for Mental Retardation, Autosomal Dominant 7

Articles related to Mental Retardation, Autosomal Dominant 7:

# Title Authors Year
1
DYRK1A-Related Intellectual Disability Syndrome ( 26677511 )
1993

Variations for Mental Retardation, Autosomal Dominant 7

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

6
(show top 50) (show all 152)
# 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 DYRK1A, 1-BP DEL, C deletion Pathogenic
8 DYRK1A DYRK1A, 2-BP DEL, 290CT deletion Pathogenic
9 DYRK1A NM_001396.3(DYRK1A): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs724159949 GRCh38 Chromosome 21, 37486563: 37486563
10 DYRK1A NM_001396.3(DYRK1A): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs724159949 GRCh37 Chromosome 21, 38858865: 38858865
11 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh38 Chromosome 21, 37490273: 37490273
12 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh37 Chromosome 21, 38862575: 38862575
13 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh38 Chromosome 21, 37505352: 37505352
14 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh37 Chromosome 21, 38877655: 38877655
15 DYRK1A NM_001396.3(DYRK1A): c.312C> G (p.Tyr104Ter) single nucleotide variant Pathogenic rs797044519 GRCh38 Chromosome 21, 37478285: 37478285
16 DYRK1A NM_001396.3(DYRK1A): c.312C> G (p.Tyr104Ter) single nucleotide variant Pathogenic rs797044519 GRCh37 Chromosome 21, 38850587: 38850587
17 DYRK1A NM_001396.4(DYRK1A): c.452dup (p.Asn151Lysfs) duplication Pathogenic rs797044523 GRCh38 Chromosome 21, 37480762: 37480762
18 DYRK1A NM_001396.4(DYRK1A): c.452dup (p.Asn151Lysfs) duplication Pathogenic rs797044523 GRCh37 Chromosome 21, 38853064: 38853064
19 DYRK1A NM_001396.3(DYRK1A): c.461delA (p.Lys154Serfs) deletion Pathogenic rs797044521 GRCh38 Chromosome 21, 37480771: 37480771
20 DYRK1A NM_001396.3(DYRK1A): c.461delA (p.Lys154Serfs) deletion Pathogenic rs797044521 GRCh37 Chromosome 21, 38853073: 38853073
21 DYRK1A NM_001396.3(DYRK1A): c.563A> T (p.Lys188Ile) single nucleotide variant Likely pathogenic rs797044524 GRCh37 Chromosome 21, 38858815: 38858815
22 DYRK1A NM_001396.3(DYRK1A): c.563A> T (p.Lys188Ile) single nucleotide variant Likely pathogenic rs797044524 GRCh38 Chromosome 21, 37486513: 37486513
23 DYRK1A NM_001396.3(DYRK1A): c.734T> G (p.Leu245Arg) single nucleotide variant Likely pathogenic rs797044525 GRCh38 Chromosome 21, 37490244: 37490244
24 DYRK1A NM_001396.3(DYRK1A): c.734T> G (p.Leu245Arg) single nucleotide variant Likely pathogenic rs797044525 GRCh37 Chromosome 21, 38862546: 38862546
25 DYRK1A NM_001396.3(DYRK1A): c.883C> T (p.Leu295Phe) single nucleotide variant Pathogenic/Likely pathogenic rs797044526 GRCh38 Chromosome 21, 37490393: 37490393
26 DYRK1A NM_001396.3(DYRK1A): c.883C> T (p.Leu295Phe) single nucleotide variant Pathogenic/Likely pathogenic rs797044526 GRCh37 Chromosome 21, 38862695: 38862695
27 DYRK1A NM_001396.3(DYRK1A): c.1101_1104delAGAT (p.Asp368Argfs) deletion Pathogenic rs797044522 GRCh37 Chromosome 21, 38868422: 38868425
28 DYRK1A NM_001396.3(DYRK1A): c.1101_1104delAGAT (p.Asp368Argfs) deletion Pathogenic rs797044522 GRCh38 Chromosome 21, 37496120: 37496123
29 DYRK1A NM_001396.3(DYRK1A): c.1399C> T (p.Arg467Ter) single nucleotide variant Pathogenic rs797044520 GRCh38 Chromosome 21, 37505442: 37505442
30 DYRK1A NM_001396.3(DYRK1A): c.1399C> T (p.Arg467Ter) single nucleotide variant Pathogenic rs797044520 GRCh37 Chromosome 21, 38877745: 38877745
31 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
32 subset of 25 genes:DSCAM; DYRK1A GRCh37/hg19 21q22.13-22.2(chr21: 37839410..41427526) copy number loss Pathogenic GRCh37 Chromosome 21, 37839410: 41427526
33 DYRK1A NM_001396.4(DYRK1A): c.1162dup (p.Ala388Glyfs) duplication Pathogenic rs797045042 GRCh37 Chromosome 21, 38868483: 38868483
34 DYRK1A NM_001396.4(DYRK1A): c.1162dup (p.Ala388Glyfs) duplication Pathogenic rs797045042 GRCh38 Chromosome 21, 37496181: 37496181
35 DYRK1A NM_001396.3(DYRK1A): c.1400G> A (p.Arg467Gln) single nucleotide variant Pathogenic/Likely pathogenic rs797045041 GRCh37 Chromosome 21, 38877746: 38877746
36 DYRK1A NM_001396.3(DYRK1A): c.1400G> A (p.Arg467Gln) single nucleotide variant Pathogenic/Likely pathogenic rs797045041 GRCh38 Chromosome 21, 37505443: 37505443
37 DYRK1A NM_001396.3(DYRK1A): c.516+9A> G single nucleotide variant Benign/Likely benign rs187936450 GRCh37 Chromosome 21, 38853137: 38853137
38 DYRK1A NM_001396.3(DYRK1A): c.516+9A> G single nucleotide variant Benign/Likely benign rs187936450 GRCh38 Chromosome 21, 37480835: 37480835
39 DYRK1A NM_001396.3(DYRK1A): c.922T> G (p.Phe308Val) single nucleotide variant Likely pathogenic rs797045540 GRCh37 Chromosome 21, 38862734: 38862734
40 DYRK1A NM_001396.3(DYRK1A): c.922T> G (p.Phe308Val) single nucleotide variant Likely pathogenic rs797045540 GRCh38 Chromosome 21, 37490432: 37490432
41 DYRK1A NM_001396.4(DYRK1A): c.1298_1299insT (p.Pro434Thrfs) insertion Pathogenic rs797045539 GRCh37 Chromosome 21, 38877644: 38877645
42 DYRK1A NM_001396.4(DYRK1A): c.1298_1299insT (p.Pro434Thrfs) insertion Pathogenic rs797045539 GRCh38 Chromosome 21, 37505341: 37505342
43 DYRK1A NM_001396.3(DYRK1A): c.2035G> C (p.Ala679Pro) single nucleotide variant Benign/Likely benign rs55720916 GRCh37 Chromosome 21, 38884577: 38884577
44 DYRK1A NM_001396.3(DYRK1A): c.2035G> C (p.Ala679Pro) single nucleotide variant Benign/Likely benign rs55720916 GRCh38 Chromosome 21, 37512274: 37512274
45 DYRK1A NM_101395.2(DYRK1A): c.208-1G> A single nucleotide variant Likely benign rs552103257 GRCh38 Chromosome 21, 37478180: 37478180
46 DYRK1A NM_101395.2(DYRK1A): c.208-1G> A single nucleotide variant Likely benign rs552103257 GRCh37 Chromosome 21, 38850482: 38850482
47 DYRK1A NM_001396.3(DYRK1A): c.1639C> T (p.Gln547Ter) single nucleotide variant Pathogenic/Likely pathogenic rs869312708 GRCh37 Chromosome 21, 38878494: 38878494
48 DYRK1A NM_001396.3(DYRK1A): c.1639C> T (p.Gln547Ter) single nucleotide variant Pathogenic/Likely pathogenic rs869312708 GRCh38 Chromosome 21, 37506191: 37506191
49 DYRK1A NM_001396.4(DYRK1A): c.476dupA (p.Tyr159Terfs) insertion Pathogenic rs1057516030 GRCh37 Chromosome 21, 38853088: 38853088
50 DYRK1A NM_001396.4(DYRK1A): c.476dupA (p.Tyr159Terfs) insertion Pathogenic rs1057516030 GRCh38 Chromosome 21, 37480786: 37480786

Expression for Mental Retardation, Autosomal Dominant 7

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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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