MRT2
MCID: MNT155
MIFTS: 25

Mental Retardation, Autosomal Recessive 2 (MRT2)

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 Recessive 2

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 2:

Name: Mental Retardation, Autosomal Recessive 2 57 29 13 6 70
Mental Retardation, Autosomal Recessive 2a 57 72
Mrt2a 57 72
Mental Retardation Non-Syndromic Autosomal Recessive 2a 72
Mental Retardation, Autosomal Recessive 2a; Mrt2a 57
Mental Retardation, Autosomal Recessive, Type 2 39
Mrt2 57

Characteristics:

OMIM®:

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

Miscellaneous:
males may be more affected than females
based on independent reports of 2 families (last curated august 2017)


HPO:

31
mental retardation, autosomal recessive 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 607417
OMIM Phenotypic Series 57 PS249500
MeSH 44 D008607
MedGen 41 C1843942
UMLS 70 C1843942

Summaries for Mental Retardation, Autosomal Recessive 2

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 2A: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. MRT2A patients display mild mental retardation with a standard IQ ranged from 50 to 70. IQ scores are lower in males than females. Developmental milestones are mildly delayed. There are no dysmorphic or autistic features.

MalaCards based summary : Mental Retardation, Autosomal Recessive 2, also known as mental retardation, autosomal recessive 2a, is related to plasma cell neoplasm and autosomal recessive non-syndromic intellectual disability. An important gene associated with Mental Retardation, Autosomal Recessive 2 is CRBN (Cereblon). Related phenotypes are global developmental delay and intellectual disability, mild

More information from OMIM: 607417 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 2

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

Diseases related to Mental Retardation, Autosomal Recessive 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 plasma cell neoplasm 9.6 TRNT1 CRBN
2 autosomal recessive non-syndromic intellectual disability 9.6 TRNT1 CRBN
3 myeloma, multiple 9.5 TRNT1 CRBN

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 2

Human phenotypes related to Mental Retardation, Autosomal Recessive 2:

31
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 intellectual disability, mild 31 HP:0001256
3 intellectual disability, severe 31 HP:0010864
4 attention deficit hyperactivity disorder 31 HP:0007018
5 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
mental retardation, mild (iq range from 50 to 70, family a)
mildly delayed developmental milestones (family a)
no autistic features (family a)
mental retardation, severe (family b)
seizures (family b)
more
Neurologic Behavioral Psychiatric Manifestations:
self-mutilating behavior (family b)

Clinical features from OMIM®:

607417 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 2

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 2

Genetic Tests for Mental Retardation, Autosomal Recessive 2

Genetic tests related to Mental Retardation, Autosomal Recessive 2:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 2 29 CRBN

Anatomical Context for Mental Retardation, Autosomal Recessive 2

Publications for Mental Retardation, Autosomal Recessive 2

Articles related to Mental Retardation, Autosomal Recessive 2:

# Title Authors PMID Year
1
A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family. 6 57
28143899 2017
2
A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. 6 57
15557513 2004
3
A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter. 57 6
10932263 2000
4
Candidate genes for recessive non-syndromic mental retardation on chromosome 3p (MRT2A). 61 57
15151510 2004
5
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
6
A mental retardation-linked nonsense mutation in cereblon is rescued by proteasome inhibition. 6
23983124 2013
7
Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation. 6
18414909 2008

Variations for Mental Retardation, Autosomal Recessive 2

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRBN , TRNT1 NM_016302.3(CRBN):c.1255C>T (p.Arg419Ter) SNV Pathogenic 1821 rs121918368 GRCh37: 3:3192623-3192623
GRCh38: 3:3150939-3150939
2 CRBN NM_016302.4(CRBN):c.835+1G>A SNV Pathogenic 984705 GRCh37: 3:3196430-3196430
GRCh38: 3:3154746-3154746
3 CRBN NM_016302.4(CRBN):c.235del (p.Gln79fs) Deletion Pathogenic 1028015 GRCh37: 3:3215885-3215885
GRCh38: 3:3174201-3174201
4 CRBN , TRNT1 NM_016302.4(CRBN):c.1077_1078insTATC (p.Leu360fs) Insertion Pathogenic 1032729 GRCh37: 3:3194210-3194211
GRCh38: 3:3152526-3152527
5 CRBN NM_016302.4(CRBN):c.433C>T (p.Arg145Ter) SNV Pathogenic 1032731 GRCh37: 3:3214554-3214554
GRCh38: 3:3172870-3172870
6 CRBN NM_016302.3(CRBN):c.641C>G (p.Ser214Ter) SNV Likely pathogenic 816985 rs1575094649 GRCh37: 3:3209364-3209364
GRCh38: 3:3167680-3167680
7 CRBN , TRNT1 NM_016302.3(CRBN):c.1171T>C (p.Cys391Arg) SNV Likely pathogenic 209144 rs797045036 GRCh37: 3:3192707-3192707
GRCh38: 3:3151023-3151023
8 CRBN NM_016302.4(CRBN):c.40A>T (p.Met14Leu) SNV Uncertain significance 1028016 GRCh37: 3:3221332-3221332
GRCh38: 3:3179648-3179648
9 CRBN NM_016302.4(CRBN):c.29C>G (p.Ala10Gly) SNV Uncertain significance 1032730 GRCh37: 3:3221343-3221343
GRCh38: 3:3179659-3179659

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 2:

72
# Symbol AA change Variation ID SNP ID
1 CRBN p.Cys391Arg VAR_079409 rs797045036

Expression for Mental Retardation, Autosomal Recessive 2

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 2.

Pathways for Mental Retardation, Autosomal Recessive 2

GO Terms for Mental Retardation, Autosomal Recessive 2

Sources for Mental Retardation, Autosomal Recessive 2

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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