MRD45
MCID: MNT286
MIFTS: 23

Mental Retardation, Autosomal Dominant 45 (MRD45)

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 45

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 45:

Name: Mental Retardation, Autosomal Dominant 45 57 72 6
Mrd45 57 72
Mental Retardation, Autosomal Dominant, Type 45 39
Autosomal Dominant Mental Retardation 45 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation


HPO:

31
mental retardation, autosomal dominant 45:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0080236
OMIM® 57 617600
OMIM Phenotypic Series 57 PS156200
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Dominant 45

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 45: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD45 patients manifest developmental delay, variable intellectual disability, and behavioral disorders, including autistic features, attention deficit, and hyperactivity.

MalaCards based summary : Mental Retardation, Autosomal Dominant 45, is also known as mrd45. An important gene associated with Mental Retardation, Autosomal Dominant 45 is CIC (Capicua Transcriptional Repressor). Affiliated tissues include brain, and related phenotypes are seizure and intellectual disability

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in heterozygous mutation in the CIC gene on chromosome 19q13.

More information from OMIM: 617600 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 45

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

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 45

Human phenotypes related to Mental Retardation, Autosomal Dominant 45:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 seizure 31 very rare (1%) HP:0001250
2 intellectual disability 31 HP:0001249
3 developmental regression 31 HP:0002376
4 global developmental delay 31 HP:0001263
5 attention deficit hyperactivity disorder 31 HP:0007018
6 generalized hypotonia 31 HP:0001290
7 poor speech 31 HP:0002465

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
developmental regression
poor speech
seizures (in some patients)
delayed psychomotor development
more
Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features
attention deficit

Clinical features from OMIM®:

617600 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 45

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 45

Genetic Tests for Mental Retardation, Autosomal Dominant 45

Anatomical Context for Mental Retardation, Autosomal Dominant 45

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 45:

40
Brain

Publications for Mental Retardation, Autosomal Dominant 45

Articles related to Mental Retardation, Autosomal Dominant 45:

# Title Authors PMID Year
1
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. 57 6
28288114 2017
2
A de novo paradigm for mental retardation. 6 57
21076407 2010
3
The New CIC Mutation Associates with Mental Retardation and Severity of Seizure in Turkish Child with a Rare Class I Glucose-6-Phosphate Dehydrogenase Deficiency. 61
32535712 2020

Variations for Mental Retardation, Autosomal Dominant 45

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 45:

6 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CIC NM_015125.4(CIC):c.2571_2586del (p.Pro858fs) Deletion Pathogenic 431170 rs1555769968 GRCh37: 19:42795490-42795505
GRCh38: 19:42291338-42291353
2 CIC NM_015125.4(CIC):c.2974C>T (p.Gln992Ter) SNV Pathogenic 431171 rs1135401825 GRCh37: 19:42796325-42796325
GRCh38: 19:42292173-42292173
3 CIC NM_015125.4(CIC):c.1801_1808dup (p.Glu604fs) Duplication Pathogenic 431169 rs1135401824 GRCh37: 19:42794719-42794720
GRCh38: 19:42290567-42290568
4 CIC NM_015125.4(CIC):c.1474C>T (p.Arg492Trp) SNV Pathogenic 437890 rs373584239 GRCh37: 19:42794394-42794394
GRCh38: 19:42290242-42290242
5 CIC NM_001304815.1(CIC):c.3159_3160AG[2] (p.Glu1054_Ser1055insTer) Microsatellite Pathogenic 637047 rs1599892470 GRCh37: 19:42791372-42791373
GRCh38: 19:42287220-42287221
6 CIC NM_015125.4(CIC):c.1057C>T (p.Arg353Ter) SNV Pathogenic 431168 rs1135401823 GRCh37: 19:42793165-42793165
GRCh38: 19:42289013-42289013
7 CIC NM_001386298.1(CIC):c.3400C>T (p.Gln1134Ter) SNV Pathogenic 1030471 GRCh37: 19:42791787-42791787
GRCh38: 19:42287635-42287635
8 CIC NM_015125.4(CIC):c.1867G>T (p.Gly623Ter) SNV Likely pathogenic 803567 rs747706524 GRCh37: 19:42794787-42794787
GRCh38: 19:42290635-42290635
9 CIC NM_015125.5(CIC):c.680A>G (p.Asn227Ser) SNV Likely pathogenic 973295 GRCh37: 19:42791794-42791794
GRCh38: 19:42287642-42287642
10 CIC NM_001304815.2(CIC):c.844C>T (p.Arg282Trp) SNV Uncertain significance 996859 GRCh37: 19:42776779-42776779
GRCh38: 19:42272627-42272627
11 CIC NM_015125.5(CIC):c.1550C>G (p.Pro517Arg) SNV Uncertain significance 996872 GRCh37: 19:42794470-42794470
GRCh38: 19:42290318-42290318
12 CIC NM_015125.5(CIC):c.568C>T (p.Arg190Cys) SNV Uncertain significance 931250 GRCh37: 19:42791587-42791587
GRCh38: 19:42287435-42287435
13 CIC NM_015125.5(CIC):c.3398T>G (p.Ile1133Ser) SNV Uncertain significance 982770 GRCh37: 19:42796940-42796940
GRCh38: 19:42292788-42292788
14 CIC NM_015125.5(CIC):c.1885C>T (p.Gln629Ter) SNV Uncertain significance 982841 GRCh37: 19:42794805-42794805
GRCh38: 19:42290653-42290653
15 CIC NM_001304815.1(CIC):c.998G>A (p.Arg333His) SNV Uncertain significance 638530 rs1283116229 GRCh37: 19:42776933-42776933
GRCh38: 19:42272781-42272781
16 CIC NM_001304815.1(CIC):c.7506dup (p.Pro2503fs) Duplication Uncertain significance 638626 rs1422380205 GRCh37: 19:42799294-42799295
GRCh38: 19:42295142-42295143
17 CIC NM_001304815.2(CIC):c.92G>A (p.Arg31Gln) SNV Uncertain significance 915326 GRCh37: 19:42776027-42776027
GRCh38: 19:42271875-42271875
18 CIC NM_015125.5(CIC):c.3674G>A (p.Gly1225Glu) SNV Uncertain significance 930273 GRCh37: 19:42797312-42797312
GRCh38: 19:42293160-42293160
19 CIC NM_015125.5(CIC):c.4636G>T (p.Ala1546Ser) SNV Uncertain significance 930274 GRCh37: 19:42799152-42799152
GRCh38: 19:42295000-42295000
20 CIC NM_015125.5(CIC):c.4703C>T (p.Thr1568Met) SNV Uncertain significance 930872 GRCh37: 19:42799219-42799219
GRCh38: 19:42295067-42295067
21 CIC NM_015125.5(CIC):c.2414del (p.Pro805fs) Deletion Uncertain significance 931015 GRCh37: 19:42795333-42795333
GRCh38: 19:42291181-42291181
22 CIC NM_015125.5(CIC):c.2801G>T (p.Arg934Leu) SNV Uncertain significance 931086 GRCh37: 19:42795812-42795812
GRCh38: 19:42291660-42291660
23 CIC NM_001386298.1(CIC):c.4419G>T (p.Gln1473His) SNV Uncertain significance 1033732 GRCh37: 19:42794612-42794612
GRCh38: 19:42290460-42290460
24 CIC NM_001386298.1(CIC):c.4946C>T (p.Pro1649Leu) SNV Uncertain significance 1033733 GRCh37: 19:42795139-42795139
GRCh38: 19:42290987-42290987
25 CIC NM_001386298.1(CIC):c.5302A>G (p.Thr1768Ala) SNV Uncertain significance 1033734 GRCh37: 19:42795495-42795495
GRCh38: 19:42291343-42291343
26 CIC NM_001386298.1(CIC):c.5455C>T (p.Pro1819Ser) SNV Uncertain significance 1033735 GRCh37: 19:42795739-42795739
GRCh38: 19:42291587-42291587
27 CIC NM_015125.5(CIC):c.3463G>A (p.Ala1155Thr) SNV Uncertain significance 1013169 GRCh37: 19:42797005-42797005
GRCh38: 19:42292853-42292853
28 CIC NM_001386298.1(CIC):c.7407C>G (p.Thr2469=) SNV Uncertain significance 1033736 GRCh37: 19:42799196-42799196
GRCh38: 19:42295044-42295044
29 CIC NM_001386298.1(CIC):c.3974C>T (p.Pro1325Leu) SNV Uncertain significance 1030467 GRCh37: 19:42793445-42793445
GRCh38: 19:42289293-42289293
30 CIC NM_001386298.1(CIC):c.3031T>C (p.Cys1011Arg) SNV Uncertain significance 1030468 GRCh37: 19:42791244-42791244
GRCh38: 19:42287092-42287092
31 CIC NM_001386298.1(CIC):c.6188G>C (p.Ser2063Thr) SNV Uncertain significance 1030469 GRCh37: 19:42797003-42797003
GRCh38: 19:42292851-42292851
32 CIC NM_001386298.1(CIC):c.6747G>A (p.Lys2249=) SNV Uncertain significance 1030470 GRCh37: 19:42797968-42797968
GRCh38: 19:42293816-42293816
33 CIC NM_015125.5(CIC):c.453-10C>G SNV Likely benign 931184 GRCh37: 19:42791462-42791462
GRCh38: 19:42287310-42287310
34 CIC NM_015125.5(CIC):c.3446C>G (p.Thr1149Ser) SNV Likely benign 983013 GRCh37: 19:42796988-42796988
GRCh38: 19:42292836-42292836
35 CIC NM_015125.4(CIC):c.4783T>C (p.Ser1595Pro) SNV Likely benign 252693 rs745695673 GRCh37: 19:42799299-42799299
GRCh38: 19:42295147-42295147

Expression for Mental Retardation, Autosomal Dominant 45

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 45.

Pathways for Mental Retardation, Autosomal Dominant 45

GO Terms for Mental Retardation, Autosomal Dominant 45

Sources for Mental Retardation, Autosomal Dominant 45

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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