MCID: MNT159
MIFTS: 15

Mental Retardation, Autosomal Dominant 19 malady

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

Summaries for Mental Retardation, Autosomal Dominant 19

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MalaCards based summary: Mental Retardation, Autosomal Dominant 19, is also known as severe intellectual disability-progressive spastic diplegia syndrome, 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:46 615075

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 46
 
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome 48


Classifications:



External Ids:

OMIM46 615075

Related Diseases for Mental Retardation, Autosomal Dominant 19

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Diseases in the Mental Retardation, Autosomal Dominant 6 family:

Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Recessive 2 Mental Retardation
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 15
Mental Retardation, Autosomal Dominant 30 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 43
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 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, 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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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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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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Clinvar genetic disease variations for Mental Retardation, Autosomal Dominant 19:

7
id Gene Name 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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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
  • Proteins
  • Kits and Assays

Sources for Mental Retardation, Autosomal Dominant 19

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet