Mental Retardation, Autosomal Recessive 58 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Mental Retardation, Autosomal Recessive 58

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 58:

Name: Mental Retardation, Autosomal Recessive 58 ⁵⁷ ⁷⁵ ²⁹ ⁶

Mrt58 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth
three unrelated families have been reported (last curated december 2016)

HPO:

³²

mental retardation, autosomal recessive 58:
Onset and clinical course congenital onset progressive
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Mental diseases Eye diseases Cardiovascular diseases Bone diseases Skin diseases Gastrointestinal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617270

MedGen ⁴² C4310641 CN239931

MeSH ⁴⁴ D008607

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Summaries for Mental Retardation, Autosomal Recessive 58

UniProtKB/Swiss-Prot : ⁷⁵ Mental retardation, autosomal recessive 58: 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. MRT58 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mental Retardation, Autosomal Recessive 58, is also known as mrt58. An important gene associated with Mental Retardation, Autosomal Recessive 58 is ELP2 (Elongator Acetyltransferase Complex Subunit 2). Related phenotypes are aggressive behavior and stereotypy

Description from OMIM: 617270

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Related Diseases for Mental Retardation, Autosomal Recessive 58

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

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Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 58

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
intellectual disability
spasticity
hyperreflexia
choreoathetosis
delayed psychomotor development
more

Muscle Soft Tissue:
hypotonia, truncal

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
self-injury

Growth Height:
short stature (1 patient)

Clinical features from OMIM:

617270

Human phenotypes related to Mental Retardation, Autosomal Recessive 58:

³² (show all 13)

#	Description	HPO Frequency	HPO Source Accession
1	aggressive behavior ³²		HP:0000718
2	stereotypy ³²	very rare (1%)	HP:0000733
3	delayed speech and language development ³²	very rare (1%)	HP:0000750
4	intellectual disability ³²	very rare (1%)	HP:0001249
5	global developmental delay ³²	very rare (1%)	HP:0001263
6	spastic diplegia ³²	very rare (1%)	HP:0001264
7	choreoathetosis ³²		HP:0001266
8	hyperreflexia ³²	very rare (1%)	HP:0001347
9	poor head control ³²	very rare (1%)	HP:0002421
10	short stature ³²	occasional (7.5%)	HP:0004322
11	muscular hypotonia of the trunk ³²	very rare (1%)	HP:0008936
12	pica ³²	very rare (1%)	HP:0011856
13	self-injurious behavior ³²	very rare (1%)	HP:0100716

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Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 58

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 58

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Genetic Tests for Mental Retardation, Autosomal Recessive 58

Genetic tests related to Mental Retardation, Autosomal Recessive 58:

#	Genetic test	Affiliating Genes
1	Mental Retardation, Autosomal Recessive 58 ²⁹	ELP2

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Anatomical Context for Mental Retardation, Autosomal Recessive 58

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Publications for Mental Retardation, Autosomal Recessive 58

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Genes for Mental Retardation, Autosomal Recessive 58

Genes related to Mental Retardation, Autosomal Recessive 58 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ELP2	Elongator Acetyltransferase Complex Subunit 2	Protein Coding	1053.57	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	21937992 25847581

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Variations for Mental Retardation, Autosomal Recessive 58

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 58:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ELP2	NM_001242875.2(ELP2): c.812A> G (p.His271Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs773432002	GRCh37	Chromosome 18, 33722272: 33722272
2	ELP2	NM_001242875.2(ELP2): c.812A> G (p.His271Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs773432002	GRCh38	Chromosome 18, 36142309: 36142309
3	ELP2	NM_001242875.2(ELP2): c.1579C> T (p.Arg527Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs767713084	GRCh37	Chromosome 18, 33736537: 33736537
4	ELP2	NM_001242875.2(ELP2): c.1579C> T (p.Arg527Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs767713084	GRCh38	Chromosome 18, 36156574: 36156574
5	ELP2	NM_001242875.2(ELP2): c.1858A> C (p.Thr620Pro)	single nucleotide variant	Pathogenic	rs772450541	GRCh37	Chromosome 18, 33739953: 33739953
6	ELP2	NM_001242875.2(ELP2): c.1858A> C (p.Thr620Pro)	single nucleotide variant	Pathogenic	rs772450541	GRCh38	Chromosome 18, 36159990: 36159990
7	ELP2	NM_001242875.2(ELP2): c.1580G> T (p.Arg527Leu)	single nucleotide variant	Pathogenic	rs371310428	GRCh37	Chromosome 18, 33736538: 33736538
8	ELP2	NM_001242875.2(ELP2): c.1580G> T (p.Arg527Leu)	single nucleotide variant	Pathogenic	rs371310428	GRCh38	Chromosome 18, 36156575: 36156575

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Expression for Mental Retardation, Autosomal Recessive 58

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 58.

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Pathways for Mental Retardation, Autosomal Recessive 58

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GO Terms for Mental Retardation, Autosomal Recessive 58

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Sources for Mental Retardation, Autosomal Recessive 58

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