MRT57
MCID: MNT287
MIFTS: 23

Mental Retardation, Autosomal Recessive 57 (MRT57)

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 57

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 57:

Name: Mental Retardation, Autosomal Recessive 57 57 72 29 6
Mrt57 57 72
Mental Retardation, Autosomal Recessive, Type 57 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth
seizures may remit later in childhood
seizures are well-controlled


HPO:

31
mental retardation, autosomal recessive 57:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 57

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 57: 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. MRT57 patients have moderate to severe intellectual disability, and delayed psychomotor development with poor or absent speech. Some patients manifest seizures and autistic features.

MalaCards based summary : Mental Retardation, Autosomal Recessive 57, is also known as mrt57. An important gene associated with Mental Retardation, Autosomal Recessive 57 is MBOAT7 (Membrane Bound O-Acyltransferase Domain Containing 7). Affiliated tissues include brain, and related phenotypes are hyperreflexia and microcephaly

More information from OMIM: 617188 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 57

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 57

Human phenotypes related to Mental Retardation, Autosomal Recessive 57:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 occasional (7.5%) HP:0001347
2 microcephaly 31 occasional (7.5%) HP:0000252
3 autistic behavior 31 occasional (7.5%) HP:0000729
4 intellectual disability 31 HP:0001249
5 global developmental delay 31 HP:0001263
6 hypertonia 31 HP:0001276
7 absent speech 31 HP:0001344
8 polymicrogyria 31 HP:0002126
9 generalized hypotonia 31 HP:0001290
10 focal-onset seizure 31 HP:0007359
11 muscular hypotonia of the trunk 31 HP:0008936
12 inability to walk 31 HP:0002540
13 delayed ability to walk 31 HP:0031936
14 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373
15 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
inability to walk
febrile seizures
myoclonic seizures
seizures (in some patients)
delayed psychomotor development
more
Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder (in some patients)

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
small head circumference (in some patients)

Clinical features from OMIM®:

617188 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 57

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 57

Genetic Tests for Mental Retardation, Autosomal Recessive 57

Genetic tests related to Mental Retardation, Autosomal Recessive 57:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 57 29 MBOAT7

Anatomical Context for Mental Retardation, Autosomal Recessive 57

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 57:

40
Brain

Publications for Mental Retardation, Autosomal Recessive 57

Articles related to Mental Retardation, Autosomal Recessive 57:

# Title Authors PMID Year
1
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. 6 57
27616480 2016
2
LPIAT1 regulates arachidonic acid content in phosphatidylinositol and is required for cortical lamination in mice. 57
23097495 2012

Variations for Mental Retardation, Autosomal Recessive 57

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 57:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MBOAT7 NM_024298.5(MBOAT7):c.423del (p.Leu142fs) Deletion Pathogenic 268113 rs886041059 GRCh37: 19:54687474-54687474
GRCh38: 19:54183591-54183591
2 MBOAT7 NM_024298.5(MBOAT7):c.854+1G>C SNV Pathogenic 268114 rs886041060 GRCh37: 19:54684489-54684489
GRCh38: 19:54180772-54180772
3 MBOAT7 NM_024298.5(MBOAT7):c.820_826del (p.Gly274fs) Deletion Pathogenic 268115 rs886041061 GRCh37: 19:54684518-54684524
GRCh38: 19:54180801-54180807
4 MBOAT7 NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del) Deletion Pathogenic 268112 rs750035706 GRCh37: 19:54684566-54684586
GRCh38: 19:54180849-54180869
5 MBOAT7 NM_024298.5(MBOAT7):c.183G>A (p.Trp61Ter) SNV Pathogenic 1033620 GRCh37: 19:54692094-54692094
GRCh38: 19:54188240-54188240
6 MBOAT7 NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs) Deletion Likely pathogenic 268111 rs886041058 GRCh37: 19:54692132-54692151
GRCh38: 19:54188278-54188297
7 MBOAT7 NM_024298.5(MBOAT7):c.1135del (p.Leu379fs) Deletion Likely pathogenic 812079 GRCh37: 19:54678022-54678022
GRCh38: 19:54174328-54174328
8 MBOAT7 NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter) SNV Likely pathogenic 812082 GRCh37: 19:54678095-54678095
GRCh38: 19:54174401-54174401
9 MBOAT7 NM_024298.5(MBOAT7):c.1031+17A>G SNV Uncertain significance 1028295 GRCh37: 19:54682465-54682465
GRCh38: 19:54178748-54178748
10 MBOAT7 NM_024298.5(MBOAT7):c.1031G>A (p.Arg344Gln) SNV Uncertain significance 1028296 GRCh37: 19:54682482-54682482
GRCh38: 19:54178765-54178765
11 MBOAT7 NM_024298.5(MBOAT7):c.1126G>A (p.Glu376Lys) SNV Uncertain significance 546854 rs758805684 GRCh37: 19:54678031-54678031
GRCh38: 19:54174337-54174337
12 MBOAT7 NM_024298.5(MBOAT7):c.1196A>C (p.His399Pro) SNV Uncertain significance 1028297 GRCh37: 19:54677961-54677961
GRCh38: 19:54174267-54174267
13 MBOAT7 NM_024298.5(MBOAT7):c.849C>G (p.Pro283=) SNV Uncertain significance 1028298 GRCh37: 19:54684495-54684495
GRCh38: 19:54180778-54180778
14 MBOAT7 NM_024298.5(MBOAT7):c.968C>T (p.Thr323Met) SNV Uncertain significance 1028299 GRCh37: 19:54682545-54682545
GRCh38: 19:54178828-54178828
15 MBOAT7 NM_024298.5(MBOAT7):c.1229T>C (p.Met410Thr) SNV Uncertain significance 1033618 GRCh37: 19:54677928-54677928
GRCh38: 19:54174234-54174234
16 MBOAT7 NM_024298.5(MBOAT7):c.1366A>G (p.Lys456Glu) SNV Uncertain significance 1033619 GRCh37: 19:54677791-54677791
GRCh38: 19:54174097-54174097
17 MBOAT7 NM_024298.5(MBOAT7):c.653G>C (p.Arg218Pro) SNV Uncertain significance 1013401 GRCh37: 19:54684691-54684691
GRCh38: 19:54180974-54180974
18 MBOAT7 NM_024298.5(MBOAT7):c.847C>G (p.Pro283Ala) SNV Uncertain significance 1033621 GRCh37: 19:54684497-54684497
GRCh38: 19:54180780-54180780
19 MBOAT7 NM_024298.5(MBOAT7):c.854+8G>A SNV Uncertain significance 1033622 GRCh37: 19:54684482-54684482
GRCh38: 19:54180765-54180765
20 MBOAT7 NM_024298.5(MBOAT7):c.937G>T (p.Val313Leu) SNV Uncertain significance 1033623 GRCh37: 19:54682576-54682576
GRCh38: 19:54178859-54178859
21 MBOAT7 NM_024298.5(MBOAT7):c.1151G>A (p.Arg384Gln) SNV Uncertain significance 548624 rs545959971 GRCh37: 19:54678006-54678006
GRCh38: 19:54174312-54174312

Expression for Mental Retardation, Autosomal Recessive 57

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 57.

Pathways for Mental Retardation, Autosomal Recessive 57

GO Terms for Mental Retardation, Autosomal Recessive 57

Sources for Mental Retardation, Autosomal Recessive 57

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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