MCID: MNT159
MIFTS: 13

Mental Retardation, Autosomal Dominant 19 malady

Genetic diseases (common), Neuronal diseases, Mental diseases categories

Aliases & Classifications for Mental Retardation, Autosomal Dominant 19

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Mental Retardation, Autosomal Dominant 19, Aliases & Descriptions:

Name: Mental Retardation, Autosomal Dominant 19 45 10 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases, Mental diseases


External Ids:

OMIM45 615075

Summaries for Mental Retardation, Autosomal Dominant 19

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MalaCards based summary: Mental Retardation, Autosomal Dominant 19 and has symptoms including thin upper lip vermilion, microcephaly and intellectual disability. An important gene associated with Mental Retardation, Autosomal Dominant 19 is CTNNB1 (catenin (cadherin-associated protein), beta 1, 88kDa).

Description from OMIM:45 615075

Related Diseases for Mental Retardation, Autosomal Dominant 19

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Diseases in the Mental Retardation family:

Mental Retardation, Autosomal Dominant 14 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Dominant 22
Mental Retardation, Autosomal Recessive 42 Mental Retardation, Autosomal Recessive 2
Mental Retardation, Autosomal Dominant 23 mental retardation, autosomal dominant 19
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 5 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 46 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 15
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Dominant 24
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Dominant 17
Mental Retardation, Autosomal Dominant 6 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 34 Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Recessive 32
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 27
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 Dominant 29 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 7 Mental Retardation, Autosomal Dominant 15
Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant, 27
Mental Retardation, Autosomal Recessive, 37 Mental Retardation, Autosomal Dominant, 28

Symptoms for Mental Retardation, Autosomal Dominant 19

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Symptoms by clinical synopsis from OMIM:

615075

Clinical features from OMIM:

615075

HPO human phenotypes related to Mental Retardation, Autosomal Dominant 19:

(show all 6)
id Description Frequency HPO Source Accession
1 thin upper lip vermilion HP:0000219
2 microcephaly HP:0000252
3 intellectual disability HP:0001249
4 global developmental delay HP:0001263
5 spastic diplegia HP:0001264
6 hypoplasia of the corpus callosum HP:0002079

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 19

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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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Genetic tests related to Mental Retardation, Autosomal Dominant 19:

id Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 1922

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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UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 19:

62
id Symbol AA change Variation ID SNP ID
1CTNNB1p.Leu388ProVAR_072282

Clinvar genetic disease variations for Mental Retardation, Autosomal Dominant 19:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CTNNB1NM_001904.3(CTNNB1): c.705dupA (p.Gly236Argfs)duplicationPathogenicGRCh37Chr 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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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
  • Proteins
  • Kits and Assays

Sources for Mental Retardation, Autosomal Dominant 19

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet