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

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Aliases & Descriptions for Mental Retardation, Autosomal Dominant 19:

Name: Mental Retardation, Autosomal Dominant 19 52 24 70 27 12 68
Mrd19 24 70
 
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome 54

Characteristics:

Orphanet epidemiological data:

54
severe intellectual disability-progressive spastic diplegia syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy

HPO:

64
mental retardation, autosomal dominant 19:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 615075
Orphanet54 ORPHA404473
ICD10 via Orphanet31 G11.4
MeSH39 D008607

Summaries for Mental Retardation, Autosomal Dominant 19

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UniProtKB/Swiss-Prot:70 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 thin upper lip vermilion, microcephaly and long philtrum. An important gene associated with Mental Retardation, Autosomal Dominant 19 is CTNNB1 (Catenin Beta 1).

Description from OMIM:52 615075

Related Diseases for Mental Retardation, Autosomal Dominant 19

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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:

idRelated DiseaseScoreTop Affiliating Genes
1severe intellectual disability-progressive spastic diplegia syndrome12.5

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 19

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Symptoms by clinical synopsis from OMIM:

615075

Clinical features from OMIM:

615075

Human phenotypes related to Mental Retardation, Autosomal Dominant 19:

 64 (show all 10)
id Description HPO Frequency HPO Source Accession
1 thin upper lip vermilion64 HP:0000219
2 microcephaly64 HP:0000252
3 long philtrum64 HP:0000343
4 strabismus64 HP:0000486
5 intellectual disability64 HP:0001249
6 muscular hypotonia64 HP:0001252
7 global developmental delay64 HP:0001263
8 spastic diplegia64 HP:0001264
9 hypoplasia of the corpus callosum64 HP:0002079
10 neurological speech impairment64 HP:0002167

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 1927 24 CTNNB1

Anatomical Context for Mental Retardation, Autosomal Dominant 19

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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:

70
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)SNVLikely pathogenicrs863224864GRCh37Chr 3, 41275105: 41275105
3CTNNB1NM_ 001904.3(CTNNB1): c.268C> T (p.Arg90Ter)SNVPathogenicGRCh37Chr 3, 41266471: 41266471
4CTNNB1NM_ 001904.3(CTNNB1): c.283C> T (p.Arg95Ter)SNVPathogenicrs775104326GRCh37Chr 3, 41266486: 41266486
5CTNNB1NM_ 001904.3(CTNNB1): c.1272_ 1275delTTCT (p.Ser425Thrfs)deletionPathogenicrs398122907GRCh37Chr 3, 41275106: 41275109
6CTNNB1NM_ 001904.3(CTNNB1): c.1543C> T (p.Arg515Ter)SNVPathogenicrs397514554GRCh37Chr 3, 41275648: 41275648
7CTNNB1NM_ 001904.3(CTNNB1): c.925C> T (p.Gln309Ter)SNVPathogenicrs376393123GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet