MCID: MNT244
MIFTS: 21

Mental Retardation, Autosomal Recessive 49

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Fetal diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Skin diseases, Gastrointestinal diseases

Aliases & Classifications for Mental Retardation, Autosomal Recessive 49

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 49:

Name: Mental Retardation, Autosomal Recessive 49 57 75 29 6
Mrt49 57 75
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome 59
Mental Retardation, Autosomal Recessive, Type 49 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
three unrelated families have been reported (last curated september 2016)


HPO:

32
mental retardation, autosomal recessive 49:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Mental Retardation, Autosomal Recessive 49

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal recessive 49: 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. MRT49 patients show a developmental encephalopathy characterized by rapid onset of failure to thrive and microcephaly, as well as profoundly delayed development.

MalaCards based summary : Mental Retardation, Autosomal Recessive 49, is also known as mrt49. An important gene associated with Mental Retardation, Autosomal Recessive 49 is GPT2 (Glutamic--Pyruvic Transaminase 2). Related phenotypes are microcephaly and intellectual disability

Description from OMIM: 616281

Related Diseases for Mental Retardation, Autosomal Recessive 49

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

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 49

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
dysarthria
hyperreflexia
spasticity of the lower limbs
seizures (in some patients)
more
Head And Neck Mouth:
drooling
oromotor dysfunction

Head And Neck Head:
microcephaly, postnatal (up to -6.8 sd)

Growth Other:
failure to thrive

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
decreased alanine in cerebrospinal fluid


Clinical features from OMIM:

616281

Human phenotypes related to Mental Retardation, Autosomal Recessive 49:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 intellectual disability 32 HP:0001249
3 dysarthria 32 HP:0001260
4 global developmental delay 32 HP:0001263
5 generalized hypotonia 32 HP:0001290
6 encephalopathy 32 HP:0001298
7 absent speech 32 HP:0001344
8 hyperreflexia 32 HP:0001347
9 failure to thrive 32 HP:0001508
10 generalized tonic-clonic seizures 32 HP:0002069
11 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
12 drooling 32 HP:0002307
13 postnatal microcephaly 32 HP:0005484

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 49

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 49

Genetic Tests for Mental Retardation, Autosomal Recessive 49

Genetic tests related to Mental Retardation, Autosomal Recessive 49:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 49 29 GPT2

Anatomical Context for Mental Retardation, Autosomal Recessive 49

Publications for Mental Retardation, Autosomal Recessive 49

Variations for Mental Retardation, Autosomal Recessive 49

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 49:

75
# Symbol AA change Variation ID SNP ID
1 GPT2 p.Ser153Arg VAR_073379 rs786203999

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 49:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GPT2 NM_133443.3(GPT2): c.459C> G (p.Ser153Arg) single nucleotide variant Pathogenic rs786203999 GRCh38 Chromosome 16, 46906858: 46906858
2 GPT2 NM_133443.3(GPT2): c.459C> G (p.Ser153Arg) single nucleotide variant Pathogenic rs786203999 GRCh37 Chromosome 16, 46940770: 46940770
3 GPT2 NM_133443.3(GPT2): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs115352435 GRCh38 Chromosome 16, 46922414: 46922414
4 GPT2 NM_133443.3(GPT2): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs115352435 GRCh37 Chromosome 16, 46956326: 46956326
5 GPT2 NM_133443.3(GPT2): c.815C> T (p.Pro272Leu) single nucleotide variant Pathogenic rs886038199 GRCh38 Chromosome 16, 46909922: 46909922
6 GPT2 NM_133443.3(GPT2): c.815C> T (p.Pro272Leu) single nucleotide variant Pathogenic rs886038199 GRCh37 Chromosome 16, 46943834: 46943834

Expression for Mental Retardation, Autosomal Recessive 49

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 49.

Pathways for Mental Retardation, Autosomal Recessive 49

GO Terms for Mental Retardation, Autosomal Recessive 49

Sources for Mental Retardation, Autosomal Recessive 49

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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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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