MRT52
MCID: MNT264
MIFTS: 18

Mental Retardation, Autosomal Recessive 52 (MRT52)

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 52

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 52:

Name: Mental Retardation, Autosomal Recessive 52 57 72 29 6
Mrt52 57 72
Mental Retardation, Autosomal Recessive, 52 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
seizures remit spontaneously by age 5 years
one consanguineous pakistani family has been reported (last curated march 2016)


HPO:

31
mental retardation, autosomal recessive 52:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM® 57 616887
OMIM Phenotypic Series 57 PS249500
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Recessive 52

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 52: 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. MRT52 clinical features include global developmental delay, severe intellectual disability with poor speech, and mild seizures in early childhood.

MalaCards based summary : Mental Retardation, Autosomal Recessive 52, is also known as mrt52. An important gene associated with Mental Retardation, Autosomal Recessive 52 is LMAN2L (Lectin, Mannose Binding 2 Like). Related phenotypes are global developmental delay and intellectual disability, severe

More information from OMIM: 616887 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 52

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 52

Human phenotypes related to Mental Retardation, Autosomal Recessive 52:

31
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 intellectual disability, severe 31 HP:0010864
3 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
global developmental delay
intellectual disability, severe
seizures, mild

Clinical features from OMIM®:

616887 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 52

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 52

Genetic Tests for Mental Retardation, Autosomal Recessive 52

Genetic tests related to Mental Retardation, Autosomal Recessive 52:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 52 29 LMAN2L

Anatomical Context for Mental Retardation, Autosomal Recessive 52

Publications for Mental Retardation, Autosomal Recessive 52

Articles related to Mental Retardation, Autosomal Recessive 52:

# Title Authors PMID Year
1
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. 6 57
26566883 2016

Variations for Mental Retardation, Autosomal Recessive 52

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 52:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMAN2L NM_001322346.1(LMAN2L):c.-195G>A SNV Pathogenic 224890 rs869320632 GRCh37: 2:97405620-97405620
GRCh38: 2:96739883-96739883
2 LMAN2L NM_030805.4(LMAN2L):c.424+11C>T SNV Uncertain significance 1030198 GRCh37: 2:97400135-97400135
GRCh38: 2:96734398-96734398
3 LMAN2L NM_030805.4(LMAN2L):c.46C>A (p.Arg16=) SNV Uncertain significance 1030199 GRCh37: 2:97405732-97405732
GRCh38: 2:96739995-96739995
4 LMAN2L NM_030805.4(LMAN2L):c.652G>A (p.Val218Ile) SNV Uncertain significance 1030200 GRCh37: 2:97377618-97377618
GRCh38: 2:96711881-96711881
5 LMAN2L NM_030805.4(LMAN2L):c.776A>T (p.Asp259Val) SNV Uncertain significance 1031876 GRCh37: 2:97377401-97377401
GRCh38: 2:96711664-96711664

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 52:

72
# Symbol AA change Variation ID SNP ID
1 LMAN2L p.Arg53Gln VAR_076429 rs869320632

Expression for Mental Retardation, Autosomal Recessive 52

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 52.

Pathways for Mental Retardation, Autosomal Recessive 52

GO Terms for Mental Retardation, Autosomal Recessive 52

Sources for Mental Retardation, Autosomal Recessive 52

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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