MCID: MNT159
MIFTS: 12

Mental Retardation, Autosomal Dominant 19 malady

Genetic diseases, Neuronal diseases, Mental diseases, Fetal diseases, Rare diseases, Eye diseases categories
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Summaries for Mental Retardation, Autosomal Dominant 19

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47OMIM, 33MalaCards
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MalaCards: Mental Retardation, Autosomal Dominant 19 An important gene associated with Mental Retardation, Autosomal Dominant 19 is CTNNB1 (catenin (cadherin-associated protein), beta 1, 88kDa).

Description from OMIM:47 615075

Aliases & Classifications for Mental Retardation, Autosomal Dominant 19

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47OMIM
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Classifications:



Aliases & Descriptions:

mental retardation, autosomal dominant 19 47


Related Diseases for Mental Retardation, Autosomal Dominant 19

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Diseases in the Mental Retardation, Autosomal Recessive 43 family:

Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 6 Mental Retardation, Autosomal Recessive 2
Mental Retardation, Autosomal Dominant 14 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant, 27
Mental Retardation, Autosomal Recessive 42 Mental Retardation, Autosomal Dominant 23
mental retardation, autosomal dominant 19 Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 12 Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 26 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Dominant 8 Mental Retardation, Autosomal Recessive, 37
Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Dominant 17 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 34 Mental Retardation, Autosomal Recessive, 9/26
Mental Retardation, Autosomal Recessive 32 Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 10/20
Mental Retardation, Autosomal Dominant 21 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 36 Mental Retardation, Autosomal Dominant 16
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Dominant, 28
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Dominant 15
Mental Retardation, Autosomal Dominant 10

Symptoms for Mental Retardation, Autosomal Dominant 19

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47OMIM
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Symptoms by clinical synopsis from OMIM:

615075

Clinical features from OMIM:

615075

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 19

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Mental Retardation, Autosomal Dominant 19

Search NIH Clinical Center for Mental Retardation, Autosomal Dominant 19

Genetic Tests for Mental Retardation, Autosomal Dominant 19

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Anatomical Context for Mental Retardation, Autosomal Dominant 19

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Animal Models for Mental Retardation, Autosomal Dominant 19 or affiliated genes

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Publications for Mental Retardation, Autosomal Dominant 19

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Variations for Mental Retardation, Autosomal Dominant 19

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Mental Retardation, Autosomal Dominant 19:

1
id Gene Name Type Significance SNP ID Assembly Location
1CTNNB1NM_001904.3(CTNNB1): c.705dupA (p.Gly236Argfs)duplicationPathogenic/card/mental_retardation_autosomal_dominant_19GRCh37Chr 3, 41267034: 41267034
2CTNNB1NM_001904.3(CTNNB1): c.1272_1275delTTCT (p.Ser425Thrfs)deletionPathogenicrs398122907GRCh37Chr 3, 41275106: 41275109
3CTNNB1NM_001904.3(CTNNB1): c.1543C> T (p.Arg515Ter)single nucleotide variantPathogenicrs397514554GRCh37Chr 3, 41275648: 41275648
4CTNNB1NM_001904.3(CTNNB1): c.925C> T (p.Gln309Ter)single nucleotide variantPathogenicrs376393123GRCh37Chr 3, 41267341: 41267341

Expression for genes affiliated with Mental Retardation, Autosomal Dominant 19

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mental Retardation, Autosomal Dominant 19

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Pathways for genes affiliated with Mental Retardation, Autosomal Dominant 19

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Compounds for genes affiliated with Mental Retardation, Autosomal Dominant 19

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GO Terms for genes affiliated with Mental Retardation, Autosomal Dominant 19

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Products for genes affiliated with Mental Retardation, Autosomal Dominant 19

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mental Retardation, Autosomal Dominant 19

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet