MCID: MNT155
MIFTS: 23

Mental Retardation, Autosomal Recessive 2

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Fetal diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Skin diseases, Gastrointestinal 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 73
Mental Retardation, Autosomal Recessive 2a 57 75
Mrt2a 57 75
Mental Retardation Non-Syndromic Autosomal Recessive 2a 75
Mental Retardation, Autosomal Recessive 2a; Mrt2a 57
Mental Retardation, Autosomal Recessive, Type 2 40
Mrt2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mental retardation, autosomal recessive 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 607417
MedGen 42 C1843942
MeSH 44 D008607
SNOMED-CT via HPO 69 258211005 86765009 224958001
UMLS 73 C1843942

Summaries for Mental Retardation, Autosomal Recessive 2

UniProtKB/Swiss-Prot : 75 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 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay and retinitis pigmentosa and erythrocytic microcytosis. An important gene associated with Mental Retardation, Autosomal Recessive 2 is CRBN (Cereblon). Related phenotypes are intellectual disability, mild and global developmental delay

Description from OMIM: 607417

Related Diseases for Mental Retardation, Autosomal Recessive 2

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 Recessive 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 9.3 CRBN TRNT1
2 retinitis pigmentosa and erythrocytic microcytosis 9.2 CRBN TRNT1
3 retinitis pigmentosa 9.0 CRBN TRNT1

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 2

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Mental Retardation, Autosomal Recessive 2:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability, mild 32 HP:0001256
2 global developmental delay 32 HP:0001263

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

Variations for Mental Retardation, Autosomal Recessive 2

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

75
# Symbol AA change Variation ID SNP ID
1 CRBN p.Cys391Arg VAR_079409 rs797045036

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CRBN NM_016302.3(CRBN): c.1255C> T (p.Arg419Ter) single nucleotide variant Pathogenic rs121918368 GRCh37 Chromosome 3, 3192623: 3192623
2 CRBN NM_016302.3(CRBN): c.1255C> T (p.Arg419Ter) single nucleotide variant Pathogenic rs121918368 GRCh38 Chromosome 3, 3150939: 3150939
3 CRBN NM_016302.3(CRBN): c.1171T> C (p.Cys391Arg) single nucleotide variant Likely pathogenic rs797045036 GRCh37 Chromosome 3, 3192707: 3192707
4 CRBN NM_016302.3(CRBN): c.1171T> C (p.Cys391Arg) single nucleotide variant Likely pathogenic rs797045036 GRCh38 Chromosome 3, 3151023: 3151023

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 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
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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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
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