MCID: MNT287
MIFTS: 24

Mental Retardation, Autosomal Recessive 57

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Fetal diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Skin diseases, Gastrointestinal 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 75 6
Mrt57 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mental retardation, autosomal recessive 57:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 57

UniProtKB/Swiss-Prot : 75 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, also known as mrt57, is related to pontocerebellar hypoplasia, type 2c and pontoneocerebellar hypoplasia. 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 microcephaly and autistic behavior

Description from OMIM: 617188

Related Diseases for Mental Retardation, Autosomal Recessive 57

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

Diseases related to Mental Retardation, Autosomal Recessive 57 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia, type 2c 9.2 MBOAT7 TSEN34
2 pontoneocerebellar hypoplasia 9.0 MBOAT7 TSEN34

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 57

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
inability to walk
generalized seizures
febrile seizures
focal seizures
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

Human phenotypes related to Mental Retardation, Autosomal Recessive 57:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 autistic behavior 32 occasional (7.5%) HP:0000729
3 global developmental delay 32 HP:0001263
4 generalized hypotonia 32 HP:0001290
5 hyperreflexia 32 occasional (7.5%) HP:0001347
6 generalized myoclonic seizures 32 HP:0002123
7 polymicrogyria 32 HP:0002126
8 febrile seizures 32 HP:0002373
9 inability to walk 32 HP:0002540
10 focal seizures 32 HP:0007359
11 muscular hypotonia of the trunk 32 HP:0008936

GenomeRNAi Phenotypes related to Mental Retardation, Autosomal Recessive 57 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.23 MBOAT7 TSEN34
2 Decreased shRNA abundance GR00251-A-2 9.23 TSEN34 MBOAT7

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

Anatomical Context for Mental Retardation, Autosomal Recessive 57

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

41
Brain

Publications for Mental Retardation, Autosomal Recessive 57

Variations for Mental Retardation, Autosomal Recessive 57

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MBOAT7 NM_024298.4(MBOAT7): c.126_145del20 (p.Leu43Hisfs) deletion Pathogenic rs886041058 GRCh38 Chromosome 19, 54188278: 54188297
2 MBOAT7 NM_024298.4(MBOAT7): c.126_145del20 (p.Leu43Hisfs) deletion Pathogenic rs886041058 GRCh37 Chromosome 19, 54692132: 54692151
3 MBOAT7 NM_024298.4(MBOAT7): c.758_778del21 (p.Glu253_Ala259del) deletion Pathogenic rs750035706 GRCh37 Chromosome 19, 54684566: 54684586
4 MBOAT7 NM_024298.4(MBOAT7): c.758_778del21 (p.Glu253_Ala259del) deletion Pathogenic rs750035706 GRCh38 Chromosome 19, 54180849: 54180869
5 MBOAT7 NM_024298.4(MBOAT7): c.423delG (p.Leu142Cysfs) deletion Pathogenic rs886041059 GRCh38 Chromosome 19, 54183591: 54183591
6 MBOAT7 NM_024298.4(MBOAT7): c.423delG (p.Leu142Cysfs) deletion Pathogenic rs886041059 GRCh37 Chromosome 19, 54687474: 54687474
7 MBOAT7 NM_024298.4(MBOAT7): c.854+1G> C single nucleotide variant Pathogenic rs886041060 GRCh37 Chromosome 19, 54684489: 54684489
8 MBOAT7 NM_024298.4(MBOAT7): c.854+1G> C single nucleotide variant Pathogenic rs886041060 GRCh38 Chromosome 19, 54180772: 54180772
9 MBOAT7 NM_024298.4(MBOAT7): c.820_826delGGCGGCC (p.Gly274Profs) deletion Pathogenic rs886041061 GRCh38 Chromosome 19, 54180801: 54180807
10 MBOAT7 NM_024298.4(MBOAT7): c.820_826delGGCGGCC (p.Gly274Profs) deletion Pathogenic rs886041061 GRCh37 Chromosome 19, 54684518: 54684524

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

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