MRT5
MCID: MNT145
MIFTS: 29

Mental Retardation, Autosomal Recessive 5 (MRT5)

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 5

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 5:

Name: Mental Retardation, Autosomal Recessive 5 57 72 29 13 6 70
Mrt5 57 72
Mental Retardation, Autosomal Recessive, Type 5 39

Characteristics:

OMIM®:

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

Miscellaneous:
dysmorphic features are variable


HPO:

31
mental retardation, autosomal recessive 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 5

UniProtKB/Swiss-Prot : 72 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 and autosomal recessive non-syndromic intellectual disability. An important gene associated with Mental Retardation, Autosomal Recessive 5 is NSUN2 (NOP2/Sun RNA Methyltransferase 2). Related phenotypes are hypertelorism and wide nasal bridge

More information from OMIM: 611091 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 5

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

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.0
2 autosomal recessive non-syndromic intellectual disability 9.5 SYNGAP1 NSUN2

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 5

Human phenotypes related to Mental Retardation, Autosomal Recessive 5:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
delayed psychomotor development
seizures (rare)
mental retardation, moderate to severe
more
Head And Neck Face:
smooth philtrum
narrow face
long face
short philtrum
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 (Updated 05-Apr-2021)

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 29 NSUN2

Anatomical Context for Mental Retardation, Autosomal Recessive 5

Publications for Mental Retardation, Autosomal Recessive 5

Articles related to Mental Retardation, Autosomal Recessive 5:

# Title Authors PMID Year
1
Mutations in NSUN2 cause autosomal-recessive intellectual disability. 61 57 6
22541559 2012
2
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. 57 6 61
21063731 2011
3
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. 6 57
22577224 2012
4
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. 57 6
22541562 2012
5
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. 57 6
17120046 2007
6
A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child. 61
26055038 2015
7
Frequencies of Six (Five Novel) STR Markers Linked to TUSC3 (MRT7) or NSUN2 (MRT5) Genes Used for Homozygosity Mapping of Recessive Intellectual Disability. 61
26427135 2015

Variations for Mental Retardation, Autosomal Recessive 5

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

6 (show top 50) (show all 83)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NSUN2 NM_017755.6(NSUN2):c.679C>T (p.Gln227Ter) SNV Pathogenic 31675 rs387907190 GRCh37: 5:6620355-6620355
GRCh38: 5:6620242-6620242
2 NSUN2 NM_017755.6(NSUN2):c.1114C>T (p.Gln372Ter) SNV Pathogenic 31676 rs387907191 GRCh37: 5:6611180-6611180
GRCh38: 5:6611067-6611067
3 NSUN2 NSUN2, IVS5, A-C SNV Pathogenic 31677 GRCh37:
GRCh38:
4 NSUN2 NM_017755.6(NSUN2):c.2035G>A (p.Gly679Arg) SNV Pathogenic 31678 rs587776908 GRCh37: 5:6600308-6600308
GRCh38: 5:6600195-6600195
5 NSUN2 NM_017755.6(NSUN2):c.538-1G>C SNV Pathogenic 37005 rs1560982564 GRCh37: 5:6622214-6622214
GRCh38: 5:6622101-6622101
6 NSUN2 NM_017755.6(NSUN2):c.1020del (p.Gly341fs) Deletion Pathogenic 828097 rs1579368865 GRCh37: 5:6616841-6616841
GRCh38: 5:6616728-6616728
7 NSUN2 NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter) SNV Pathogenic 1030591 GRCh37: 5:6611129-6611129
GRCh38: 5:6611016-6611016
8 SYNGAP1 NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) SNV Likely pathogenic 430834 rs1131692154 GRCh37: 6:33400477-33400477
GRCh38: 6:33432700-33432700
9 NSUN2 NM_017755.6(NSUN2):c.430_431del (p.Lys144fs) Deletion Likely pathogenic 804451 rs1579377990 GRCh37: 5:6625711-6625712
GRCh38: 5:6625598-6625599
10 NSUN2 NM_017755.6(NSUN2):c.839dup (p.Asn280fs) Duplication Likely pathogenic 800516 rs1579370234 GRCh37: 5:6618113-6618114
GRCh38: 5:6618000-6618001
11 NSUN2 NM_017755.6(NSUN2):c.604A>G (p.Met202Val) SNV Uncertain significance 1030592 GRCh37: 5:6622147-6622147
GRCh38: 5:6622034-6622034
12 NSUN2 NM_017755.6(NSUN2):c.1594C>G (p.Pro532Ala) SNV Uncertain significance 1031995 GRCh37: 5:6606940-6606940
GRCh38: 5:6606827-6606827
13 NSUN2 NM_017755.6(NSUN2):c.2032T>G (p.Cys678Gly) SNV Uncertain significance 1031996 GRCh37: 5:6600311-6600311
GRCh38: 5:6600198-6600198
14 NSUN2 NM_017755.6(NSUN2):c.2045G>A (p.Gly682Glu) SNV Uncertain significance 1031997 GRCh37: 5:6600298-6600298
GRCh38: 5:6600185-6600185
15 NSUN2 NM_017755.6(NSUN2):c.767G>A (p.Arg256Lys) SNV Uncertain significance 1031998 GRCh37: 5:6620267-6620267
GRCh38: 5:6620154-6620154
16 NSUN2 NM_017755.6(NSUN2):c.2254C>T (p.Pro752Ser) SNV Uncertain significance 904562 GRCh37: 5:6600089-6600089
GRCh38: 5:6599976-6599976
17 NSUN2 NM_017755.6(NSUN2):c.2025C>G (p.Ile675Met) SNV Uncertain significance 904563 GRCh37: 5:6600318-6600318
GRCh38: 5:6600205-6600205
18 NSUN2 NM_017755.6(NSUN2):c.486A>G (p.Glu162=) SNV Uncertain significance 588068 rs147958833 GRCh37: 5:6623378-6623378
GRCh38: 5:6623265-6623265
19 NSUN2 NM_017755.6(NSUN2):c.255-4A>G SNV Uncertain significance 904640 GRCh37: 5:6632094-6632094
GRCh38: 5:6631981-6631981
20 NSUN2 NM_017755.6(NSUN2):c.2188A>G (p.Asn730Asp) SNV Uncertain significance 354048 rs140467698 GRCh37: 5:6600155-6600155
GRCh38: 5:6600042-6600042
21 NSUN2 NM_017755.6(NSUN2):c.1039G>A (p.Asp347Asn) SNV Uncertain significance 560233 rs779298195 GRCh37: 5:6611894-6611894
GRCh38: 5:6611781-6611781
22 NSUN2 NM_017755.6(NSUN2):c.1112G>A (p.Gly371Glu) SNV Uncertain significance 560234 rs1560975832 GRCh37: 5:6611182-6611182
GRCh38: 5:6611069-6611069
23 NSUN2 NM_017755.6(NSUN2):c.*622T>A SNV Uncertain significance 905284 GRCh37: 5:6599417-6599417
GRCh38: 5:6599304-6599304
24 NSUN2 NM_017755.6(NSUN2):c.*619G>A SNV Uncertain significance 905285 GRCh37: 5:6599420-6599420
GRCh38: 5:6599307-6599307
25 NSUN2 NM_017755.6(NSUN2):c.*532A>G SNV Uncertain significance 905286 GRCh37: 5:6599507-6599507
GRCh38: 5:6599394-6599394
26 NSUN2 NM_017755.6(NSUN2):c.1818+4A>G SNV Uncertain significance 905351 GRCh37: 5:6604714-6604714
GRCh38: 5:6604601-6604601
27 NSUN2 NM_017755.6(NSUN2):c.1780G>A (p.Gly594Ser) SNV Uncertain significance 905352 GRCh37: 5:6604756-6604756
GRCh38: 5:6604643-6604643
28 NSUN2 NM_017755.6(NSUN2):c.1458T>C (p.His486=) SNV Uncertain significance 722336 rs200925761 GRCh37: 5:6607363-6607363
GRCh38: 5:6607250-6607250
29 NSUN2 NM_017755.6(NSUN2):c.*389A>G SNV Uncertain significance 906880 GRCh37: 5:6599650-6599650
GRCh38: 5:6599537-6599537
30 NSUN2 NM_017755.6(NSUN2):c.*202C>T SNV Uncertain significance 906881 GRCh37: 5:6599837-6599837
GRCh38: 5:6599724-6599724
31 NSUN2 NM_017755.6(NSUN2):c.*97C>A SNV Uncertain significance 906882 GRCh37: 5:6599942-6599942
GRCh38: 5:6599829-6599829
32 NSUN2 NM_017755.6(NSUN2):c.*85G>A SNV Uncertain significance 906883 GRCh37: 5:6599954-6599954
GRCh38: 5:6599841-6599841
33 NSUN2 NM_017755.6(NSUN2):c.1422G>A (p.Pro474=) SNV Uncertain significance 589252 rs1055478673 GRCh37: 5:6607399-6607399
GRCh38: 5:6607286-6607286
34 NSUN2 NM_017755.6(NSUN2):c.1310A>G (p.Lys437Arg) SNV Uncertain significance 906963 GRCh37: 5:6609952-6609952
GRCh38: 5:6609839-6609839
35 NSUN2 NM_017755.6(NSUN2):c.1226+4A>T SNV Uncertain significance 436075 rs202085420 GRCh37: 5:6611064-6611064
GRCh38: 5:6610951-6610951
36 NSUN2 NM_017755.6(NSUN2):c.1022-3C>T SNV Uncertain significance 906964 GRCh37: 5:6611914-6611914
GRCh38: 5:6611801-6611801
37 NSUN2 NM_017755.6(NSUN2):c.989C>G (p.Ala330Gly) SNV Uncertain significance 906965 GRCh37: 5:6616872-6616872
GRCh38: 5:6616759-6616759
38 NSUN2 NM_017755.6(NSUN2):c.980A>G (p.Glu327Gly) SNV Uncertain significance 906966 GRCh37: 5:6616881-6616881
GRCh38: 5:6616768-6616768
39 NSUN2 NM_017755.6(NSUN2):c.*16C>T SNV Uncertain significance 907873 GRCh37: 5:6600023-6600023
GRCh38: 5:6599910-6599910
40 NSUN2 NM_017755.6(NSUN2):c.2282C>T (p.Ala761Val) SNV Uncertain significance 907874 GRCh37: 5:6600061-6600061
GRCh38: 5:6599948-6599948
41 NSUN2 NM_017755.6(NSUN2):c.914G>A (p.Arg305His) SNV Uncertain significance 907939 GRCh37: 5:6616947-6616947
GRCh38: 5:6616834-6616834
42 NSUN2 NM_017755.6(NSUN2):c.862A>G (p.Thr288Ala) SNV Uncertain significance 907940 GRCh37: 5:6618091-6618091
GRCh38: 5:6617978-6617978
43 NSUN2 NM_017755.6(NSUN2):c.763G>A (p.Gly255Ser) SNV Uncertain significance 436080 rs140003855 GRCh37: 5:6620271-6620271
GRCh38: 5:6620158-6620158
44 NSUN2 NM_017755.6(NSUN2):c.615C>A (p.Pro205=) SNV Uncertain significance 907941 GRCh37: 5:6622136-6622136
GRCh38: 5:6622023-6622023
45 NSUN2 NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) SNV Uncertain significance 129843 rs149196615 GRCh37: 5:6623335-6623335
GRCh38: 5:6623222-6623222
46 NSUN2 NM_017755.6(NSUN2):c.1602-14G>C SNV Uncertain significance 354055 rs771558713 GRCh37: 5:6605535-6605535
GRCh38: 5:6605422-6605422
47 NSUN2 NM_017755.6(NSUN2):c.2059C>T (p.Arg687Ter) SNV Uncertain significance 354050 rs886060728 GRCh37: 5:6600284-6600284
GRCh38: 5:6600171-6600171
48 NSUN2 NM_017755.6(NSUN2):c.*294C>G SNV Uncertain significance 354041 rs886060727 GRCh37: 5:6599745-6599745
GRCh38: 5:6599632-6599632
49 NSUN2 NM_017755.6(NSUN2):c.2043G>A (p.Arg681=) SNV Uncertain significance 354051 rs150785220 GRCh37: 5:6600300-6600300
GRCh38: 5:6600187-6600187
50 NSUN2 NM_017755.6(NSUN2):c.*140T>C SNV Uncertain significance 354042 rs564014439 GRCh37: 5:6599899-6599899
GRCh38: 5:6599786-6599786

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

72
# Symbol AA change Variation ID SNP ID
1 NSUN2 p.Gly679Arg VAR_068530 rs587776908

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
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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