MRT64
MCID: MNT336
MIFTS: 19

Mental Retardation, Autosomal Recessive 64 (MRT64)

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 64

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 64:

Name: Mental Retardation, Autosomal Recessive 64 57 74 29 6
Mrt64 57 74
Mental Retardation, Autosomal Recessive, Type 64 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated consanguineous pakistani families have been reported (last curated august 2018)


HPO:

32
mental retardation, autosomal recessive 64:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Recessive 64

UniProtKB/Swiss-Prot : 74 Mental retardation, autosomal recessive 64: 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. MRT64 patients have moderate to severe intellectual disability, delayed motor development, aggressive behavior, and slurred or absent speech.

MalaCards based summary : Mental Retardation, Autosomal Recessive 64, is also known as mrt64. An important gene associated with Mental Retardation, Autosomal Recessive 64 is LINGO1 (Leucine Rich Repeat And Ig Domain Containing 1). Related phenotypes are spasticity and intellectual disability

More information from OMIM: 618103 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 64

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 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

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 64

Human phenotypes related to Mental Retardation, Autosomal Recessive 64:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 spasticity 32 very rare (1%) HP:0001257
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 dysphagia 32 HP:0002015
5 global developmental delay 32 HP:0001263
6 microcephaly 32 HP:0000252
7 feeding difficulties 32 HP:0011968
8 absent speech 32 HP:0001344
9 aggressive behavior 32 HP:0000718

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
dysphagia
feeding problems

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
delayed psychomotor development
spasticity (in some patients)
seizures (in 1 patient)
poor or absent speech
hypertonia (in some patients)
more

Clinical features from OMIM:

618103

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 64

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 64

Genetic Tests for Mental Retardation, Autosomal Recessive 64

Genetic tests related to Mental Retardation, Autosomal Recessive 64:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 64 29 LINGO1

Anatomical Context for Mental Retardation, Autosomal Recessive 64

Publications for Mental Retardation, Autosomal Recessive 64

Articles related to Mental Retardation, Autosomal Recessive 64:

# Title Authors PMID Year
1
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. 71
28837161 2018

Variations for Mental Retardation, Autosomal Recessive 64

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 64:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LINGO1 NM_032808.7(LINGO1): c.869G> A (p.Arg290His) single nucleotide variant Pathogenic rs757077698 15:77907380-77907380 15:77615038-77615038
2 LINGO1 NM_032808.7(LINGO1): c.863A> G (p.Tyr288Cys) single nucleotide variant Pathogenic rs750612085 15:77907386-77907386 15:77615044-77615044

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 64:

74
# Symbol AA change Variation ID SNP ID
1 LINGO1 p.Tyr288Cys VAR_081164 rs750612085
2 LINGO1 p.Arg290His VAR_081165 rs757077698

Expression for Mental Retardation, Autosomal Recessive 64

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 64.

Pathways for Mental Retardation, Autosomal Recessive 64

GO Terms for Mental Retardation, Autosomal Recessive 64

Sources for Mental Retardation, Autosomal Recessive 64

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HGMD
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32 HPO
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34 ICD10 via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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