MRT51
MCID: MNT263
MIFTS: 20

Mental Retardation, Autosomal Recessive 51 (MRT51)

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 51

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 51:

Name: Mental Retardation, Autosomal Recessive 51 57 72 29 6
Mrt51 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
two unrelated consanguineous families have been reported (last curated january 2016)


HPO:

31
mental retardation, autosomal recessive 51:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 51

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 51: A form of mental retardation, 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 51, is also known as mrt51. An important gene associated with Mental Retardation, Autosomal Recessive 51 is HNMT (Histamine N-Methyltransferase). Related phenotypes are motor delay and intellectual disability

More information from OMIM: 616739 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 51

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

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 51

Human phenotypes related to Mental Retardation, Autosomal Recessive 51:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 motor delay 31 occasional (7.5%) HP:0001270
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 delayed speech and language development 31 HP:0000750
5 microcephaly 31 HP:0000252
6 intellectual disability, severe 31 HP:0010864

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
mental retardation, severe
delayed motor development (in some patients)
delayed cognitive development

Growth Height:
decreased height, mild

Head And Neck Head:
small head circumference

Clinical features from OMIM®:

616739 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 51

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 51

Genetic Tests for Mental Retardation, Autosomal Recessive 51

Genetic tests related to Mental Retardation, Autosomal Recessive 51:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 51 29 HNMT

Anatomical Context for Mental Retardation, Autosomal Recessive 51

Publications for Mental Retardation, Autosomal Recessive 51

Articles related to Mental Retardation, Autosomal Recessive 51:

# Title Authors PMID Year
1
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. 57 6
26206890 2015
2
Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene. 61
33310825 2020

Variations for Mental Retardation, Autosomal Recessive 51

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 51:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HNMT NM_006895.3(HNMT):c.179G>A (p.Gly60Asp) SNV Pathogenic 219125 rs758252808 GRCh37: 2:138727776-138727776
GRCh38: 2:137970206-137970206
2 HNMT NM_006895.3(HNMT):c.623T>C (p.Leu208Pro) SNV Pathogenic 219126 rs745756308 GRCh37: 2:138771444-138771444
GRCh38: 2:138013874-138013874
3 HNMT NM_006895.3(HNMT):c.317C>T (p.Ser106Leu) SNV Uncertain significance 1032500 GRCh37: 2:138759652-138759652
GRCh38: 2:138002082-138002082

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 51:

72
# Symbol AA change Variation ID SNP ID
1 HNMT p.Gly60Asp VAR_076312 rs758252808
2 HNMT p.Leu208Pro VAR_076313 rs745756308

Expression for Mental Retardation, Autosomal Recessive 51

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 51.

Pathways for Mental Retardation, Autosomal Recessive 51

GO Terms for Mental Retardation, Autosomal Recessive 51

Sources for Mental Retardation, Autosomal Recessive 51

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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