MRD41
MCID: MNT272
MIFTS: 23

Mental Retardation, Autosomal Dominant 41 (MRD41)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 41

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 41:

Name: Mental Retardation, Autosomal Dominant 41 57 72 29 6
Mrd41 57 12 72
Autosomal Dominant Non-Syndromic Intellectual Disability 41 12 15
Mental Retardation, Autosomal Dominant, Type 41 39
Autosomal Dominant Mental Retardation 41 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation


HPO:

31
mental retardation, autosomal dominant 41:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070071
OMIM® 57 616944
OMIM Phenotypic Series 57 PS156200
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Dominant 41

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 41: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD41 patients manifest delayed psychomotor development, variable severity of intellectual disability, and delayed language. Non-specific dysmorphic features and autistic behavior is observed in some patients.

MalaCards based summary : Mental Retardation, Autosomal Dominant 41, is also known as mrd41. An important gene associated with Mental Retardation, Autosomal Dominant 41 is TBL1XR1 (TBL1X Receptor 1). Related phenotypes are seizure and intellectual disability

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of TBL1XR1 on chromosome 3q26.32.

More information from OMIM: 616944 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 41

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 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 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 26
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 Recessive 48
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 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 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 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 41

Human phenotypes related to Mental Retardation, Autosomal Dominant 41:

31
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
delayed psychomotor development
seizures (1 patient)
delayed language
intellectual disability, variable severity

Head And Neck Face:
dysmorphic features, nonspecific (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)

Clinical features from OMIM®:

616944 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 41

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 41

Genetic Tests for Mental Retardation, Autosomal Dominant 41

Genetic tests related to Mental Retardation, Autosomal Dominant 41:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 41 29 TBL1XR1

Anatomical Context for Mental Retardation, Autosomal Dominant 41

Publications for Mental Retardation, Autosomal Dominant 41

Articles related to Mental Retardation, Autosomal Dominant 41:

# Title Authors PMID Year
1
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. 57 6
27133561 2016
2
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. 6 57
25102098 2014
3
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 6 57
23160955 2012
4
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 57 6
22495309 2012
5
Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment. 6 57
19760657 2009
6
A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion. 57
25425123 2015
7
De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability. 57
24891185 2014
8
A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome. 61
28574232 2017

Variations for Mental Retardation, Autosomal Dominant 41

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 41:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBL1XR1 NM_001321195.2(TBL1XR1):c.-53G>A SNV Pathogenic 191371 rs786205859 GRCh37: 3:176769510-176769510
GRCh38: 3:177051722-177051722
2 TBL1XR1 NM_024665.6(TBL1XR1):c.734A>G (p.Tyr245Cys) SNV Pathogenic 225873 rs878854401 GRCh37: 3:176765306-176765306
GRCh38: 3:177047518-177047518
3 TBL1XR1 L282P Variation Pathogenic 225871 GRCh37:
GRCh38:
4 TBL1XR1 I397SFSTER19 Variation Pathogenic 225872 GRCh37:
GRCh38:
5 TBL1XR1 NM_024665.6(TBL1XR1):c.874dup (p.Ile292fs) Duplication Pathogenic 559628 rs1553813646 GRCh37: 3:176763967-176763968
GRCh38: 3:177046179-177046180
6 TBL1XR1 NM_024665.7(TBL1XR1):c.799G>T (p.Gly267Cys) SNV Pathogenic 807509 rs1577017863 GRCh37: 3:176765153-176765153
GRCh38: 3:177047365-177047365
7 TBL1XR1 NM_024665.6(TBL1XR1):c.689C>T (p.Ser230Phe) SNV Likely pathogenic 521029 rs1553815393 GRCh37: 3:176767798-176767798
GRCh38: 3:177050010-177050010
8 TBL1XR1 NM_024665.7(TBL1XR1):c.973_975dup (p.Cys325dup) Duplication Likely pathogenic 976675 GRCh37: 3:176756172-176756173
GRCh38: 3:177038384-177038385
9 TBL1XR1 NM_024665.6(TBL1XR1):c.1000T>C (p.Cys334Arg) SNV Likely pathogenic 666258 rs1576994101 GRCh37: 3:176756148-176756148
GRCh38: 3:177038360-177038360
10 TBL1XR1 NM_024665.6(TBL1XR1):c.1043A>G (p.His348Arg) SNV Likely pathogenic 666259 rs1576994053 GRCh37: 3:176756105-176756105
GRCh38: 3:177038317-177038317
11 TBL1XR1 NM_024665.6(TBL1XR1):c.1336T>C (p.Tyr446His) SNV Likely pathogenic 627550 rs1553808301 GRCh37: 3:176750839-176750839
GRCh38: 3:177033051-177033051
12 TBL1XR1 NM_024665.6(TBL1XR1):c.977G>T (p.Ser326Ile) SNV Likely pathogenic 431083 rs1135401760 GRCh37: 3:176756171-176756171
GRCh38: 3:177038383-177038383
13 TBL1XR1 NM_024665.6(TBL1XR1):c.974G>A (p.Cys325Tyr) SNV Conflicting interpretations of pathogenicity 545441 rs1553810255 GRCh37: 3:176756174-176756174
GRCh38: 3:177038386-177038386
14 TBL1XR1 NM_024665.7(TBL1XR1):c.1156G>C (p.Asp386His) SNV Uncertain significance 1028837 GRCh37: 3:176752080-176752080
GRCh38: 3:177034292-177034292
15 TBL1XR1 NM_024665.7(TBL1XR1):c.1486G>A (p.Asp496Asn) SNV Uncertain significance 1028838 GRCh37: 3:176744193-176744193
GRCh38: 3:177026405-177026405
16 TBL1XR1 NM_024665.7(TBL1XR1):c.40A>G (p.Arg14Gly) SNV Uncertain significance 996874 GRCh37: 3:176782726-176782726
GRCh38: 3:177064938-177064938
17 TBL1XR1 NM_024665.7(TBL1XR1):c.343G>A (p.Ala115Thr) SNV Uncertain significance 626177 rs375411293 GRCh37: 3:176769376-176769376
GRCh38: 3:177051588-177051588
18 TBL1XR1 NM_024665.7(TBL1XR1):c.208G>C (p.Gly70Arg) SNV Uncertain significance 976171 GRCh37: 3:176769511-176769511
GRCh38: 3:177051723-177051723

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 41:

72
# Symbol AA change Variation ID SNP ID
1 TBL1XR1 p.Gly70Asp VAR_076753 rs786205859
2 TBL1XR1 p.Tyr245Cys VAR_076755 rs878854401
3 TBL1XR1 p.Leu282Pro VAR_076756

Expression for Mental Retardation, Autosomal Dominant 41

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 41.

Pathways for Mental Retardation, Autosomal Dominant 41

GO Terms for Mental Retardation, Autosomal Dominant 41

Sources for Mental Retardation, Autosomal Dominant 41

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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