MCID: MNT286
MIFTS: 18

Mental Retardation, Autosomal Dominant 45

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Fetal diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Skin diseases, Gastrointestinal 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 75 6
Mrd45 57 75
Autosomal Dominant Mental Retardation 45 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation


Classifications:



External Ids:

OMIM 57 617600
Disease Ontology 12 DOID:0080236
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Dominant 45

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 617600

Related Diseases for Mental Retardation, Autosomal Dominant 45

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

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 45

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features
attention deficit
hyperactivity

Neurologic Central Nervous System:
delayed psychomotor development
intellectual disability
developmental regression
learning difficulties
poor speech
more

Clinical features from OMIM:

617600

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:

41
Brain

Publications for Mental Retardation, Autosomal Dominant 45

Variations for Mental Retardation, Autosomal Dominant 45

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CIC NM_015125.4(CIC): c.1057C> T (p.Arg353Ter) single nucleotide variant Pathogenic rs1135401823 GRCh38 Chromosome 19, 42289013: 42289013
2 CIC NM_015125.4(CIC): c.1057C> T (p.Arg353Ter) single nucleotide variant Pathogenic rs1135401823 GRCh37 Chromosome 19, 42793165: 42793165
3 CIC NM_015125.4(CIC): c.1801_1808dup (p.Glu604Argfs) duplication Pathogenic rs1135401824 GRCh38 Chromosome 19, 42290569: 42290576
4 CIC NM_015125.4(CIC): c.1801_1808dup (p.Glu604Argfs) duplication Pathogenic rs1135401824 GRCh37 Chromosome 19, 42794721: 42794728
5 CIC NM_015125.4(CIC): c.2571_2587del17insC (p.Pro858Valfs) indel Pathogenic GRCh38 Chromosome 19, 42291339: 42291355
6 CIC NM_015125.4(CIC): c.2571_2587del17insC (p.Pro858Valfs) indel Pathogenic GRCh37 Chromosome 19, 42795491: 42795507
7 CIC NM_001304815.1(CIC): c.5701C> T (p.Gln1901Ter) single nucleotide variant Pathogenic rs1135401825 GRCh37 Chromosome 19, 42796325: 42796325
8 CIC NM_001304815.1(CIC): c.5701C> T (p.Gln1901Ter) single nucleotide variant Pathogenic rs1135401825 GRCh38 Chromosome 19, 42292173: 42292173
9 CIC NM_015125.4(CIC): c.1474C> T (p.Arg492Trp) single nucleotide variant Pathogenic rs373584239 GRCh38 Chromosome 19, 42290242: 42290242
10 CIC NM_015125.4(CIC): c.1474C> T (p.Arg492Trp) single nucleotide variant Pathogenic rs373584239 GRCh37 Chromosome 19, 42794394: 42794394

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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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