MCID: MNT286
MIFTS: 14

Mental Retardation, Autosomal Dominant 45

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Rare diseases, Fetal diseases, Cardiovascular diseases, Bone diseases, Eye diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 45

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 45:

Name: Mental Retardation, Autosomal Dominant 45 54

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation


Classifications:



External Ids:

OMIM 54 617600

Summaries for Mental Retardation, Autosomal Dominant 45

MalaCards based summary : Mental Retardation, Autosomal Dominant 45 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 22 family:

Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Dominant, 27
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Recessive, 52
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Dominant 23
Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 5 Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Dominant 8 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Recessive, 37
Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Dominant 6
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Dominant 7
Mental Retardation, Autosomal Dominant 10 Mental Retardation 105

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 45

Symptoms via clinical synopsis from OMIM:

54

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:

39
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
id Gene Variation Type Significance SNP ID Assembly Location
1 CIC NM_001304815.1(CIC): c.3784C> T (p.Arg1262Ter) single nucleotide variant Pathogenic rs1135401823 GRCh38 Chromosome 19, 42289013: 42289013
2 CIC NM_015125.4(CIC): c.1801_1808dup (p.Glu604Argfs) duplication Pathogenic rs1135401824 GRCh38 Chromosome 19, 42290569: 42290576
3 CIC NM_015125.4(CIC): c.2571_2587del17insC (p.Pro858Valfs) indel Pathogenic GRCh38 Chromosome 19, 42291339: 42291355
4 CIC NM_001304815.1(CIC): c.5701C> T (p.Gln1901Ter) single nucleotide variant Pathogenic rs1135401825 GRCh37 Chromosome 19, 42796325: 42796325
5 CIC NM_015125.4(CIC): c.1474C> T (p.Arg492Trp) single nucleotide variant Pathogenic rs373584239 GRCh38 Chromosome 19, 42290242: 42290242

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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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