MRD19
MCID: MNT159
MIFTS: 19

Mental Retardation, Autosomal Dominant 19 (MRD19) 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

Aliases & Descriptions for Mental Retardation, Autosomal Dominant 19:

Name: Mental Retardation, Autosomal Dominant 19 54 24 66 29 13 69
Mrd19 24 66
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
severe intellectual disability-progressive spastic diplegia syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

HPO:

32
mental retardation, autosomal dominant 19:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 615075
Orphanet 56 ORPHA404473
ICD10 via Orphanet 34 G11.4
MeSH 42 D008607

Summaries for Mental Retardation, Autosomal Dominant 19

UniProtKB/Swiss-Prot : 66 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 mrd19, is related to severe intellectual disability-progressive spastic diplegia syndrome, and has symptoms including intellectual disability, muscular hypotonia and neurological speech impairment. An important gene associated with Mental Retardation, Autosomal Dominant 19 is CTNNB1 (Catenin Beta 1).

Description from OMIM: 615075

Related Diseases for Mental Retardation, Autosomal Dominant 19

Diseases in the Mental Retardation, Autosomal Dominant 22 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, 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 Dominant 13
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 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 44

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

id Related Disease Score Top Affiliating Genes
1 severe intellectual disability-progressive spastic diplegia syndrome 12.5

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 19

Symptoms by clinical synopsis from OMIM:

615075

Clinical features from OMIM:

615075

Human phenotypes related to Mental Retardation, Autosomal Dominant 19:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 muscular hypotonia 32 HP:0001252
3 neurological speech impairment 32 HP:0002167
4 global developmental delay 32 HP:0001263
5 microcephaly 32 HP:0000252
6 long philtrum 32 HP:0000343
7 strabismus 32 HP:0000486
8 thin upper lip vermilion 32 HP:0000219
9 hypoplasia of the corpus callosum 32 HP:0002079
10 spastic diplegia 32 HP:0001264

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 19

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Mental Retardation, Autosomal Dominant 19

Genetic Tests for Mental Retardation, Autosomal Dominant 19

Genetic tests related to Mental Retardation, Autosomal Dominant 19:

id Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 19 29 24 CTNNB1

Anatomical Context for Mental Retardation, Autosomal Dominant 19

Publications for Mental Retardation, Autosomal Dominant 19

Variations for Mental Retardation, Autosomal Dominant 19

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

66
id Symbol AA change Variation ID SNP ID
1 CTNNB1 p.Leu388Pro VAR_072282

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CTNNB1 NM_001904.3(CTNNB1): c.1272_1275delTTCT (p.Ser425Thrfs) deletion Pathogenic rs398122907 GRCh37 Chromosome 3, 41275106: 41275109
2 CTNNB1 NM_001904.3(CTNNB1): c.1543C> T (p.Arg515Ter) single nucleotide variant Pathogenic rs397514554 GRCh37 Chromosome 3, 41275648: 41275648
3 CTNNB1 NM_001904.3(CTNNB1): c.925C> T (p.Gln309Ter) single nucleotide variant Pathogenic rs376393123 GRCh37 Chromosome 3, 41267341: 41267341
4 CTNNB1 NM_001904.3(CTNNB1): c.705dupA (p.Gly236Argfs) duplication Pathogenic rs587777412 GRCh37 Chromosome 3, 41267034: 41267034
5 CTNNB1 NM_001904.3(CTNNB1): c.1271T> G (p.Leu424Arg) single nucleotide variant Likely pathogenic rs863224864 GRCh37 Chromosome 3, 41275105: 41275105
6 CTNNB1 NM_001904.3(CTNNB1): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 41266471: 41266471
7 CTNNB1 NM_001904.3(CTNNB1): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs775104326 GRCh37 Chromosome 3, 41266486: 41266486

Expression for Mental Retardation, Autosomal Dominant 19

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

Pathways for Mental Retardation, Autosomal Dominant 19

GO Terms for Mental Retardation, Autosomal Dominant 19

Sources for Mental Retardation, Autosomal Dominant 19

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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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