MCID: MNT159
MIFTS: 22

Mental Retardation, Autosomal Dominant 19

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 19

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 19:

Name: Mental Retardation, Autosomal Dominant 19 57 75 29 13 6 73
Mrd19 57 12 75
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome 59
Autosomal Dominant Non-Syndromic Intellectual Disability 19 12
Mental Retardation, Autosomal Dominant, Type 19 40
Autosomal Dominant Mental Retardation 19 12

Characteristics:

Orphanet epidemiological data:

59
severe intellectual disability-progressive spastic diplegia syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy


HPO:

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


Classifications:



External Ids:

OMIM 57 615075
Disease Ontology 12 DOID:0070049
Orphanet 59 ORPHA404473
ICD10 via Orphanet 34 G11.4
MeSH 44 D008607
UMLS 73 C3554449

Summaries for Mental Retardation, Autosomal Dominant 19

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Mental Retardation, Autosomal Dominant 19 is CTNNB1 (Catenin Beta 1). Affiliated tissues include skin, and related phenotypes are thin upper lip vermilion and microcephaly

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1.

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 Autosomal Dominant Mental Retardation 55
Autosomal Dominant Mental Retardation 61

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:

57
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:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 thin upper lip vermilion 32 HP:0000219
2 microcephaly 32 HP:0000252
3 long philtrum 32 HP:0000343
4 strabismus 32 HP:0000486
5 intellectual disability 32 HP:0001249
6 global developmental delay 32 HP:0001263
7 spastic diplegia 32 HP:0001264
8 generalized hypotonia 32 HP:0001290
9 hypoplasia of the corpus callosum 32 HP:0002079
10 neurological speech impairment 32 HP:0002167

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 29 CTNNB1

Anatomical Context for Mental Retardation, Autosomal Dominant 19

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

41
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:

75
# 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 24)
# 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.1272_1275delTTCT (p.Ser425Thrfs) deletion Pathogenic rs398122907 GRCh38 Chromosome 3, 41233615: 41233618
3 CTNNB1 NM_001904.3(CTNNB1): c.1543C> T (p.Arg515Ter) single nucleotide variant Pathogenic rs397514554 GRCh37 Chromosome 3, 41275648: 41275648
4 CTNNB1 NM_001904.3(CTNNB1): c.1543C> T (p.Arg515Ter) single nucleotide variant Pathogenic rs397514554 GRCh38 Chromosome 3, 41234157: 41234157
5 CTNNB1 NM_001904.3(CTNNB1): c.925C> T (p.Gln309Ter) single nucleotide variant Pathogenic rs376393123 GRCh37 Chromosome 3, 41267341: 41267341
6 CTNNB1 NM_001904.3(CTNNB1): c.925C> T (p.Gln309Ter) single nucleotide variant Pathogenic rs376393123 GRCh38 Chromosome 3, 41225850: 41225850
7 CTNNB1 NM_001904.3(CTNNB1): c.705dupA (p.Gly236Argfs) duplication Pathogenic rs587777412 GRCh37 Chromosome 3, 41267034: 41267034
8 CTNNB1 NM_001904.3(CTNNB1): c.705dupA (p.Gly236Argfs) duplication Pathogenic rs587777412 GRCh38 Chromosome 3, 41225543: 41225543
9 CTNNB1 NM_001904.3(CTNNB1): c.1271T> G (p.Leu424Arg) single nucleotide variant Likely pathogenic rs863224864 GRCh37 Chromosome 3, 41275105: 41275105
10 CTNNB1 NM_001904.3(CTNNB1): c.1271T> G (p.Leu424Arg) single nucleotide variant Likely pathogenic rs863224864 GRCh38 Chromosome 3, 41233614: 41233614
11 CTNNB1 NM_001904.3(CTNNB1): c.1434_1435insC (p.Glu479Argfs) insertion Pathogenic rs1057519379 GRCh38 Chromosome 3, 41233777: 41233778
12 CTNNB1 NM_001904.3(CTNNB1): c.1434_1435insC (p.Glu479Argfs) insertion Pathogenic rs1057519379 GRCh37 Chromosome 3, 41275268: 41275269
13 CTNNB1 NM_001904.3(CTNNB1): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 41266471: 41266471
14 CTNNB1 NM_001904.3(CTNNB1): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 41224980: 41224980
15 CTNNB1 NM_001904.3(CTNNB1): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs775104326 GRCh37 Chromosome 3, 41266486: 41266486
16 CTNNB1 NM_001904.3(CTNNB1): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs775104326 GRCh38 Chromosome 3, 41224995: 41224995
17 CTNNB1 NM_001904.3(CTNNB1): c.1603C> T (p.Arg535Ter) single nucleotide variant Pathogenic rs886039332 GRCh37 Chromosome 3, 41275708: 41275708
18 CTNNB1 NM_001904.3(CTNNB1): c.1603C> T (p.Arg535Ter) single nucleotide variant Pathogenic rs886039332 GRCh38 Chromosome 3, 41234217: 41234217
19 CTNNB1 NM_001904.3(CTNNB1): c.1672C> T (p.Gln558Ter) single nucleotide variant Pathogenic rs1131692181 GRCh37 Chromosome 3, 41275777: 41275777
20 CTNNB1 NM_001904.3(CTNNB1): c.1672C> T (p.Gln558Ter) single nucleotide variant Pathogenic rs1131692181 GRCh38 Chromosome 3, 41234286: 41234286
21 CTNNB1 NM_001904.3(CTNNB1): c.427_470dup (p.Leu159Metfs) duplication Pathogenic GRCh38 Chromosome 3, 41225139: 41225182
22 CTNNB1 NM_001904.3(CTNNB1): c.427_470dup (p.Leu159Metfs) duplication Pathogenic GRCh37 Chromosome 3, 41266630: 41266673
23 CTNNB1 NM_001904.3(CTNNB1): c.1494dup (p.His499Thrfs) duplication Pathogenic GRCh37 Chromosome 3, 41275328: 41275328
24 CTNNB1 NM_001904.3(CTNNB1): c.1494dup (p.His499Thrfs) duplication Pathogenic GRCh38 Chromosome 3, 41233837: 41233837

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....