MRT5
MCID: MNT145
MIFTS: 30

Mental Retardation, Autosomal Recessive 5 (MRT5)

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

Aliases & Classifications for Mental Retardation, Autosomal Recessive 5

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 5:

Name: Mental Retardation, Autosomal Recessive 5 58 76 30 13 6 74
Mrt5 58 76
Mental Retardation, Autosomal Recessive, Type 5 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
dysmorphic features are variable


HPO:

33
mental retardation, autosomal recessive 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 5

UniProtKB/Swiss-Prot : 76 Mental retardation, autosomal recessive 5: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, Autosomal Recessive 5, also known as mrt5, is related to alacrima, achalasia, and mental retardation syndrome. An important gene associated with Mental Retardation, Autosomal Recessive 5 is NSUN2 (NOP2/Sun RNA Methyltransferase 2). Affiliated tissues include skin, bone and eye, and related phenotypes are hypertelorism and seizures

Description from OMIM: 611091

Related Diseases for Mental Retardation, Autosomal Recessive 5

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 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
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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.1

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 5

Human phenotypes related to Mental Retardation, Autosomal Recessive 5:

33 (show all 34)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 occasional (7.5%) HP:0000316
2 seizures 33 occasional (7.5%) HP:0001250
3 wide nasal bridge 33 occasional (7.5%) HP:0000431
4 pes cavus 33 occasional (7.5%) HP:0001761
5 achilles tendon contracture 33 occasional (7.5%) HP:0001771
6 prominent nasal bridge 33 occasional (7.5%) HP:0000426
7 telecanthus 33 occasional (7.5%) HP:0000506
8 eczema 33 occasional (7.5%) HP:0000964
9 blepharophimosis 33 occasional (7.5%) HP:0000581
10 sparse hair 33 occasional (7.5%) HP:0008070
11 elevated serum creatine kinase 33 occasional (7.5%) HP:0003236
12 intellectual disability 33 HP:0001249
13 spasticity 33 HP:0001257
14 dysarthria 33 HP:0001260
15 hyperreflexia 33 HP:0001347
16 global developmental delay 33 HP:0001263
17 delayed speech and language development 33 HP:0000750
18 microcephaly 33 HP:0000252
19 smooth philtrum 33 HP:0000319
20 thick eyebrow 33 HP:0000574
21 short stature 33 HP:0004322
22 strabismus 33 HP:0000486
23 postnatal growth retardation 33 HP:0008897
24 underdeveloped nasal alae 33 HP:0000430
25 short philtrum 33 HP:0000322
26 narrow face 33 HP:0000275
27 long face 33 HP:0000276
28 thick upper lip vermilion 33 HP:0000215
29 hypotelorism 33 HP:0000601
30 synophrys 33 HP:0000664
31 prominent nose 33 HP:0000448
32 short chin 33 HP:0000331
33 small for gestational age 33 HP:0001518
34 muscular hypotonia of the trunk 33 HP:0008936

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
hyperreflexia
delayed psychomotor development
seizures (rare)
mental retardation, moderate to severe
more
Head And Neck Face:
smooth philtrum
short philtrum
narrow face
long face
small chin

Muscle Soft Tissue:
hypertonia
distal myopathy (in 1 family)

Growth Weight:
postnatal growth retardation
low birth weight

Head And Neck Mouth:
full upper lip
downturned upper lip

Skin Nails Hair Skin:
eczema (in 1 patient)

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in 1 family)

Head And Neck Head:
microcephaly

Growth Height:
short stature

Head And Neck Eyes:
strabismus
hypotelorism
synophrys
bushy eyebrows
blepharophimosis (in 1 family)
more
Head And Neck Nose:
hypoplastic alae nasi
large nose
long columella
high nasal bridge (in 1 patient)
broad nasal bridge (in 1 family)

Skeletal Feet:
pes cavus (in 1 family)
tight achilles tendon (in 1 family)

Skin Nails Hair Hair:
sparse hair (in 1 family)

Laboratory Abnormalities:
increased serum lactate dehydrogenase (in 1 family)
increased serum creatine kinase (1 family)

Clinical features from OMIM:

611091

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 5

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 5

Genetic Tests for Mental Retardation, Autosomal Recessive 5

Genetic tests related to Mental Retardation, Autosomal Recessive 5:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 5 30 NSUN2

Anatomical Context for Mental Retardation, Autosomal Recessive 5

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 5:

42
Skin, Bone, Eye

Publications for Mental Retardation, Autosomal Recessive 5

Articles related to Mental Retardation, Autosomal Recessive 5:

# Title Authors Year
1
Frequencies of Six (Five Novel) STR Markers Linked to TUSC3 (MRT7) or NSUN2 (MRT5) Genes Used for Homozygosity Mapping of Recessive Intellectual Disability. ( 26427135 )
2015
2
Mutations in NSUN2 cause autosomal-recessive intellectual disability. ( 22541559 )
2012
3
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. ( 22541562 )
2012
4
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. ( 22577224 )
2012
5
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. ( 21063731 )
2011
6
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. ( 17120046 )
2007

Variations for Mental Retardation, Autosomal Recessive 5

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 5:

76
# Symbol AA change Variation ID SNP ID
1 NSUN2 p.Gly679Arg VAR_068530 rs587776908

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 5:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 NSUN2 NM_017755.5(NSUN2): c.679C> T (p.Gln227Ter) single nucleotide variant Pathogenic rs387907190 GRCh37 Chromosome 5, 6620355: 6620355
2 NSUN2 NM_017755.5(NSUN2): c.679C> T (p.Gln227Ter) single nucleotide variant Pathogenic rs387907190 GRCh38 Chromosome 5, 6620242: 6620242
3 NSUN2 NM_017755.5(NSUN2): c.1114C> T (p.Gln372Ter) single nucleotide variant Pathogenic rs387907191 GRCh37 Chromosome 5, 6611180: 6611180
4 NSUN2 NM_017755.5(NSUN2): c.1114C> T (p.Gln372Ter) single nucleotide variant Pathogenic rs387907191 GRCh38 Chromosome 5, 6611067: 6611067
5 NSUN2 NSUN2, IVS5, A-C single nucleotide variant Pathogenic
6 NSUN2 NM_017755.5(NSUN2): c.2035G> A (p.Gly679Arg) single nucleotide variant Pathogenic rs587776908 GRCh38 Chromosome 5, 6600195: 6600195
7 NSUN2 NM_017755.5(NSUN2): c.2035G> A (p.Gly679Arg) single nucleotide variant Pathogenic rs587776908 GRCh37 Chromosome 5, 6600308: 6600308
8 NSUN2 NM_017755.5(NSUN2): c.538-1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 5, 6622101: 6622101
9 NSUN2 NM_017755.5(NSUN2): c.538-1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 5, 6622214: 6622214
10 SYNGAP1 NM_006772.2(SYNGAP1): c.403C> T (p.Arg135Ter) single nucleotide variant Pathogenic rs1131692154 GRCh38 Chromosome 6, 33432700: 33432700
11 SYNGAP1 NM_006772.2(SYNGAP1): c.403C> T (p.Arg135Ter) single nucleotide variant Pathogenic rs1131692154 GRCh37 Chromosome 6, 33400477: 33400477
12 NSUN2 NM_017755.5(NSUN2): c.1112G> A (p.Gly371Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 6611182: 6611182
13 NSUN2 NM_017755.5(NSUN2): c.1112G> A (p.Gly371Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 6611069: 6611069
14 NSUN2 NM_017755.5(NSUN2): c.1039G> A (p.Asp347Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 6611781: 6611781
15 NSUN2 NM_017755.5(NSUN2): c.1039G> A (p.Asp347Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 6611894: 6611894

Expression for Mental Retardation, Autosomal Recessive 5

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 5.

Pathways for Mental Retardation, Autosomal Recessive 5

GO Terms for Mental Retardation, Autosomal Recessive 5

Sources for Mental Retardation, Autosomal Recessive 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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