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MRT59
MCID: MNT281
MIFTS: 18

Mental Retardation, Autosomal Recessive 59 (MRT59)

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 59

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MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 59:

Name: Mental Retardation, Autosomal Recessive 59 57 72 29 6
Mrt59 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
one consanguineous brazilian family has been reported (last curated january 2017)


HPO:

31
mental retardation, autosomal recessive 59:
Inheritance autosomal recessive inheritance


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 617323
OMIM Phenotypic Series 57 PS249500
MeSH 44 D008607
Sources

Summaries for Mental Retardation, Autosomal Recessive 59

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UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 59: 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. MRT59 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mental Retardation, Autosomal Recessive 59, is also known as mrt59. An important gene associated with Mental Retardation, Autosomal Recessive 59 is IMPA1 (Inositol Monophosphatase 1). Related phenotypes are intellectual disability and aggressive behavior

More information from OMIM: 617323 PS249500
Sources

Related Diseases for Mental Retardation, Autosomal Recessive 59

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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 59

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Human phenotypes related to Mental Retardation, Autosomal Recessive 59:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 aggressive behavior 31 HP:0000718
3 paranoia 31 HP:0011999

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Behavioral Psychiatric Manifestations:
paranoia
aggression
disruptive behavior

Neurologic Central Nervous System:
mental retardation, moderate to severe

Clinical features from OMIM®:

617323 (Updated 05-Apr-2021)

Sources

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 59

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Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 59

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Genetic Tests for Mental Retardation, Autosomal Recessive 59

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Genetic tests related to Mental Retardation, Autosomal Recessive 59:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 59 29 IMPA1
Sources

Anatomical Context for Mental Retardation, Autosomal Recessive 59

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Publications for Mental Retardation, Autosomal Recessive 59

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Articles related to Mental Retardation, Autosomal Recessive 59:

# Title Authors PMID Year
1
A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability. 57 6
26416544 2016
Sources

Variations for Mental Retardation, Autosomal Recessive 59

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ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 59:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IMPA1 NM_005536.4(IMPA1):c.489_493dup (p.Ser165fs) Duplication Pathogenic 375412 rs1057519491 GRCh37: 8:82583246-82583247
GRCh38: 8:81671011-81671012
2 IMPA1 NM_005536.4(IMPA1):c.550dup (p.Cys184fs) Duplication Pathogenic 1029976 GRCh37: 8:82583189-82583190
GRCh38: 8:81670954-81670955
3 IMPA1 NM_005536.4(IMPA1):c.719G>A (p.Gly240Asp) SNV Uncertain significance 1029977 GRCh37: 8:82571701-82571701
GRCh38: 8:81659466-81659466
4 IMPA1 NM_005536.4(IMPA1):c.379G>C (p.Glu127Gln) SNV Uncertain significance 1031546 GRCh37: 8:82586154-82586154
GRCh38: 8:81673919-81673919
5 IMPA1 NM_005536.4(IMPA1):c.613A>G (p.Thr205Ala) SNV Uncertain significance 1031547 GRCh37: 8:82572856-82572856
GRCh38: 8:81660621-81660621
Sources

Expression for Mental Retardation, Autosomal Recessive 59

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Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 59.
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Pathways for Mental Retardation, Autosomal Recessive 59

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GO Terms for Mental Retardation, Autosomal Recessive 59

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Sources

Sources for Mental Retardation, Autosomal Recessive 59

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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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