MCID: MNT159
MIFTS: 12

Mental Retardation, Autosomal Dominant 19 malady

Genetic diseases, Neuronal diseases, Mental diseases, Fetal diseases, Rare diseases, Eye diseases categories

Summaries for Mental Retardation, Autosomal Dominant 19

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Sources:
48OMIM, 34MalaCards
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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:48 615075

Aliases & Classifications for Mental Retardation, Autosomal Dominant 19

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Sources:
48OMIM
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Classifications:



Aliases & Descriptions:

mental retardation, autosomal dominant 19 48


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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Sources:
48OMIM
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Mental Retardation, Autosomal Dominant 19

Drug clinical trials:

Search ClinicalTrials for Mental Retardation, Autosomal Dominant 19

Search NIH Clinical Center for Mental Retardation, Autosomal Dominant 19

Search CenterWatch 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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Sources:
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mental Retardation, Autosomal Dominant 19

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 19.

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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet