MCID: MNT145
MIFTS: 26

Mental Retardation, Autosomal Recessive 5

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 5

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 5:

Name: Mental Retardation, Autosomal Recessive 5 57 75 29 13 6 73
Mrt5 57 75
Mental Retardation, Autosomal Recessive, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
dysmorphic features are variable


HPO:

32
mental retardation, autosomal recessive 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 5

UniProtKB/Swiss-Prot : 75 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 trehalase deficiency. An important gene associated with Mental Retardation, Autosomal Recessive 5 is NSUN2 (NOP2/Sun RNA Methyltransferase Family Member 2). Related phenotypes are hypertelorism and intellectual disability

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 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 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 trehalase deficiency 9.0 NSUN2 SYNGAP1

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 5

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Mental Retardation, Autosomal Recessive 5:

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

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

Variations for Mental Retardation, Autosomal Recessive 5

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

75
# 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
# 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 NSUN2, IVS5AS, G-C, -1 single nucleotide variant Pathogenic
9 SYNGAP1 NM_006772.2(SYNGAP1): c.403C> T (p.Arg135Ter) single nucleotide variant Pathogenic rs1131692154 GRCh38 Chromosome 6, 33432700: 33432700
10 SYNGAP1 NM_006772.2(SYNGAP1): c.403C> T (p.Arg135Ter) single nucleotide variant Pathogenic rs1131692154 GRCh37 Chromosome 6, 33400477: 33400477

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 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
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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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