MCID: MNT159
MIFTS: 21

Mental Retardation, Autosomal Dominant 19

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 19

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 19:

Name: Mental Retardation, Autosomal Dominant 19 53 71 28 13 69
Mrd19 53 71
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
severe intellectual disability-progressive spastic diplegia syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy


HPO:

31
mental retardation, autosomal dominant 19:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 615075
Orphanet 55 ORPHA404473
ICD10 via Orphanet 33 G11.4
MeSH 41 D008607
UMLS 69 C3554449

Summaries for Mental Retardation, Autosomal Dominant 19

UniProtKB/Swiss-Prot : 71 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, neurological speech impairment and global developmental delay. An important gene associated with Mental Retardation, Autosomal Dominant 19 is CTNNB1 (Catenin Beta 1). Affiliated tissues include skin.

Description from OMIM: 615075

Related Diseases for Mental Retardation, Autosomal Dominant 19

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Recessive 16 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Recessive 35
Mental Retardation, Autosomal Recessive 36 Mental Retardation, Autosomal Recessive 37
Mental Retardation, Autosomal Dominant 21 Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 39 Mental Retardation, Autosomal Recessive 40
Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Dominant 23
Mental Retardation, Autosomal Recessive 42 Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 27 Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Dominant 29
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Recessive 46
Mental Retardation, Autosomal Dominant 31 Mental Retardation, Autosomal Recessive 47
Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Dominant 33
Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 38
Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Dominant 39
Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Recessive 51
Mental Retardation, Autosomal Recessive 52 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 42
Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Recessive 56 Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Recessive 58 Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 48 Mental Retardation, Autosomal Dominant 49
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56

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

# Related Disease Score Top Affiliating Genes
1 severe intellectual disability-progressive spastic diplegia syndrome 12.4

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 19

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
intellectual disability
hypoplastic corpus callosum
delayed psychomotor development
speech impairment
spastic diplegia, progressive

Head And Neck Eyes:
strabismus
hypermetropia (in some patients)
exudative vitreoretinopathy (in some patients)
visual defects

Head And Neck Mouth:
thin upper lip

Head And Neck Head:
microcephaly (in some patients)

Skin Nails Hair Skin:
fair skin (in some patients)

Head And Neck Face:
long philtrum

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Head And Neck Nose:
small alae nasi
full nasal tip

Skin Nails Hair Hair:
fine fair hair (in some patients)
unusual hair patterning (in some patients)


Clinical features from OMIM:

615075

Human phenotypes related to Mental Retardation, Autosomal Dominant 19:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 neurological speech impairment 31 HP:0002167
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 long philtrum 31 HP:0000343
6 strabismus 31 HP:0000486
7 thin upper lip vermilion 31 HP:0000219
8 hypoplasia of the corpus callosum 31 HP:0002079
9 spastic diplegia 31 HP:0001264
10 generalized hypotonia 31 HP:0001290

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 19

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 19 28 CTNNB1

Anatomical Context for Mental Retardation, Autosomal Dominant 19

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 19:

38
Skin

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:

71
# Symbol AA change Variation ID SNP ID
1 CTNNB1 p.Leu388Pro VAR_072282

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

6 (show all 11)
# 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.1434_1435insC (p.Glu479Argfs) insertion Pathogenic rs1057519379 GRCh38 Chromosome 3, 41233777: 41233778
7 CTNNB1 NM_001904.3(CTNNB1): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 41266471: 41266471
8 CTNNB1 NM_001904.3(CTNNB1): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs775104326 GRCh37 Chromosome 3, 41266486: 41266486
9 CTNNB1 NM_001904.3(CTNNB1): c.1603C> T (p.Arg535Ter) single nucleotide variant Pathogenic rs886039332 GRCh37 Chromosome 3, 41275708: 41275708
10 CTNNB1 NM_001904.3(CTNNB1): c.1672C> T (p.Gln558Ter) single nucleotide variant Pathogenic rs1131692181 GRCh37 Chromosome 3, 41275777: 41275777
11 CTNNB1 NM_001904.3(CTNNB1): c.427_470dup (p.Leu159Metfs) duplication Pathogenic GRCh38 Chromosome 3, 41225139: 41225182

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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41 MeSH
42 MESH via Orphanet
43 MGI
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50 NINDS
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53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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