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MRT50
MCID: MNT243
MIFTS: 17

Mental Retardation, Autosomal Recessive 50 (MRT50)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Publications Symptoms & Phenotypes
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Aliases & Classifications for Mental Retardation, Autosomal Recessive 50

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MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 50:

Name: Mental Retardation, Autosomal Recessive 50 57 72 29 6
Mrt50 57 72
Mental Retardation, Autosomal Recessive, Type 50 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset in first year of life
two sibs from a consanguineous syrian family have been reported (last curated july 2015)


HPO:

31
mental retardation, autosomal recessive 50:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases Eye diseases Gastrointestinal diseases Ear diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 616460
OMIM Phenotypic Series 57 PS249500
MeSH 44 D008607
Sources

Summaries for Mental Retardation, Autosomal Recessive 50

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UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 50: 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. MRT50 patients show mild intellectual disability and microcephaly.

MalaCards based summary : Mental Retardation, Autosomal Recessive 50, is also known as mrt50. An important gene associated with Mental Retardation, Autosomal Recessive 50 is EDC3 (Enhancer Of MRNA Decapping 3). Related phenotypes are sensorineural hearing impairment and microcephaly

More information from OMIM: 616460 PS249500
Sources

Related Diseases for Mental Retardation, Autosomal Recessive 50

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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

Sources

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 50

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Human phenotypes related to Mental Retardation, Autosomal Recessive 50:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
2 microcephaly 31 HP:0000252
3 intellectual disability, mild 31 HP:0001256

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability, mild

Head And Neck Head:
microcephaly (down to -3.6 sd)

Head And Neck Ears:
sensorineural hearing loss (1 patient)

Clinical features from OMIM®:

616460 (Updated 05-Apr-2021)

Sources

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 50

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Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 50

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Genetic Tests for Mental Retardation, Autosomal Recessive 50

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Genetic tests related to Mental Retardation, Autosomal Recessive 50:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 50 29 EDC3
Sources

Anatomical Context for Mental Retardation, Autosomal Recessive 50

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Publications for Mental Retardation, Autosomal Recessive 50

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Articles related to Mental Retardation, Autosomal Recessive 50:

# Title Authors PMID Year
1
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. 57 6
25701870 2015
2
Synchrotron microbeam radiation therapy for rat brain tumor palliation-influence of the microbeam width at constant valley dose. 61
19841517 2009
Sources

Variations for Mental Retardation, Autosomal Recessive 50

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ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 50:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EDC3 NM_025083.5(EDC3):c.161T>C (p.Phe54Ser) SNV Pathogenic 372218 rs1057517676 GRCh37: 15:74967305-74967305
GRCh38: 15:74674964-74674964

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 50:

72
# Symbol AA change Variation ID SNP ID
1 EDC3 p.Phe54Ser VAR_073963 rs105751767

Sources

Expression for Mental Retardation, Autosomal Recessive 50

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Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 50.
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Pathways for Mental Retardation, Autosomal Recessive 50

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GO Terms for Mental Retardation, Autosomal Recessive 50

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Sources for Mental Retardation, Autosomal Recessive 50

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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