MCID: MNT159
MIFTS: 19

Mental Retardation, Autosomal Dominant 19 malady

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 19

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Aliases & Descriptions for Mental Retardation, Autosomal Dominant 19:

Name: Mental Retardation, Autosomal Dominant 19 50 68 25 12
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome 52
 
Mrd19 68

Characteristics:

Orphanet epidemiological data:

52
severe intellectual disability-progressive spastic diplegia syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy

Classifications:



External Ids:

OMIM50 615075
Orphanet52 ORPHA404473
MeSH37 D008607

Summaries for Mental Retardation, Autosomal Dominant 19

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UniProtKB/Swiss-Prot:68 Mental retardation, autosomal dominant 19: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD19 features include severe intellectual disability with absent or very limited speech, microcephaly, and spasticity which severely impaired the ability to walk.

MalaCards based summary: Mental Retardation, Autosomal Dominant 19, also known as severe intellectual disability-progressive spastic diplegia syndrome, is related to 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 Beta 1).

Description from OMIM:50 615075

Related Diseases for Mental Retardation, Autosomal Dominant 19

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Diseases in the Mental Retardation, Autosomal Dominant 13 family:

Mental Retardation, Autosomal Dominant 14 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Dominant 37 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Dominant 22
Mental Retardation, Autosomal Dominant, 27 Mental Retardation, Autosomal Dominant 39
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 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 Recessive 18
Mental Retardation, Autosomal Dominant 12 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 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 Dominant 6
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 34
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Recessive 32 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 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 36 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Dominant 7
Mental Retardation, Autosomal Dominant 15 Mental Retardation, Autosomal Dominant 10
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Recessive 51
Mental Retardation, Autosomal Recessive 52

Diseases related to Mental Retardation, Autosomal Dominant 19 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1severe intellectual disability-progressive spastic diplegia syndrome12.6

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 7)
id Description Frequency HPO Source Accession
1 thin upper lip vermilion HP:0000219
2 microcephaly HP:0000252
3 intellectual disability HP:0001249
4 muscular hypotonia HP:0001252
5 global developmental delay HP:0001263
6 spastic diplegia HP:0001264
7 hypoplasia of the corpus callosum HP:0002079

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 19

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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 1925

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:

68
id Symbol AA change Variation ID SNP ID
1CTNNB1p.Leu388ProVAR_072282

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1CTNNB1NM_001904.3(CTNNB1): c.705dupA (p.Gly236Argfs)duplicationPathogenicrs587777412GRCh37Chr 3, 41267034: 41267034
2CTNNB1NM_001904.3(CTNNB1): c.1271T> G (p.Leu424Arg)single nucleotide variantLikely pathogenicrs863224864GRCh37Chr 3, 41275105: 41275105
3CTNNB1NM_001904.3(CTNNB1): c.268C> T (p.Arg90Ter)single nucleotide variantPathogenicGRCh37Chr 3, 41266471: 41266471
4CTNNB1NM_001904.3(CTNNB1): c.1272_1275delTTCT (p.Ser425Thrfs)deletionPathogenicrs398122907GRCh37Chr 3, 41275106: 41275109
5CTNNB1NM_001904.3(CTNNB1): c.1543C> T (p.Arg515Ter)single nucleotide variantPathogenicrs397514554GRCh37Chr 3, 41275648: 41275648
6CTNNB1NM_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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GO Terms for genes affiliated with Mental Retardation, Autosomal Dominant 19

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Sources for Mental Retardation, Autosomal Dominant 19

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet