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 ⁷² ²⁹ ⁶

Mrt58 ⁵⁷ ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

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

HPO:

³¹

mental retardation, autosomal recessive 58:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive congenital 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 617270

OMIM Phenotypic Series ⁵⁷ PS249500

MeSH ⁴⁴ D008607

MedGen ⁴¹ C4310641 CN239931

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Summaries for Mental Retardation, Autosomal Recessive 58

UniProtKB/Swiss-Prot : ⁷² 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 short stature and intellectual disability

More information from OMIM: 617270 PS249500

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Related Diseases for Mental Retardation, Autosomal Recessive 58

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

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Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 58

Human phenotypes related to Mental Retardation, Autosomal Recessive 58:

³¹ (show all 14)

#	Description	HPO Frequency	HPO Source Accession
1	short stature ³¹	occasional (7.5%)	HP:0004322
2	intellectual disability ³¹	very rare (1%)	HP:0001249
3	hyperreflexia ³¹	very rare (1%)	HP:0001347
4	self-injurious behavior ³¹	very rare (1%)	HP:0100716
5	global developmental delay ³¹	very rare (1%)	HP:0001263
6	delayed speech and language development ³¹	very rare (1%)	HP:0000750
7	stereotypy ³¹	very rare (1%)	HP:0000733
8	poor head control ³¹	very rare (1%)	HP:0002421
9	spastic diplegia ³¹	very rare (1%)	HP:0001264
10	muscular hypotonia of the trunk ³¹	very rare (1%)	HP:0008936
11	pica ³¹	very rare (1%)	HP:0011856
12	absent speech ³¹		HP:0001344
13	choreoathetosis ³¹		HP:0001266
14	aggressive behavior ³¹		HP:0000718

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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 (Updated 05-Apr-2021)

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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

Articles related to Mental Retardation, Autosomal Recessive 58:

#	Title	Authors	PMID	Year
1	ELP2 is a novel gene implicated in neurodevelopmental disabilities. ⁵⁷ ⁶	Cohen JS...Fatemi A	25847581	2015
2	Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ⁵⁷ ⁶	Najmabadi H...Ropers HH	21937992	2011

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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	PubMed IDs
1	ELP2	Elongator Acetyltransferase Complex Subunit 2	Protein Coding	1043.46	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ 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 (show all 16)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ELP2	NM_018255.4(ELP2):c.1385G>T (p.Arg462Leu)	SNV	Pathogenic	374912	rs371310428	GRCh37: 18:33736538-33736538 GRCh38: 18:36156575-36156575
2	ELP2	NM_018255.4(ELP2):c.1663A>C (p.Thr555Pro)	SNV	Pathogenic	374911	rs772450541	GRCh37: 18:33739953-33739953 GRCh38: 18:36159990-36159990
3	ELP2	NM_018255.4(ELP2):c.1657C>T (p.Gln553Ter)	SNV	Pathogenic	870397		GRCh37: 18:33739947-33739947 GRCh38: 18:36159984-36159984
4	ELP2	NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp)	SNV	Pathogenic	225038	rs767713084	GRCh37: 18:33736537-33736537 GRCh38: 18:36156574-36156574
5	ELP2	NM_018255.4(ELP2):c.617A>G (p.His206Arg)	SNV	Pathogenic	225008	rs773432002	GRCh37: 18:33722272-33722272 GRCh38: 18:36142309-36142309
6	ELP2	NM_018255.4(ELP2):c.1747del (p.Ala583fs)	Deletion	Pathogenic	1033376		GRCh37: 18:33740953-33740953 GRCh38: 18:36160990-36160990
7	ELP2	NM_018255.4(ELP2):c.293dup (p.Leu98fs)	Duplication	Pathogenic	1012186		GRCh37: 18:33718233-33718234 GRCh38: 18:36138270-36138271
8	ELP2	NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln)	SNV	Likely pathogenic	870396		GRCh37: 18:33736538-33736538 GRCh38: 18:36156575-36156575
9	ELP2	NM_018255.4(ELP2):c.1239A>C (p.Arg413Ser)	SNV	Uncertain significance	1030307		GRCh37: 18:33734926-33734926 GRCh38: 18:36154963-36154963
10	ELP2	NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser)	SNV	Uncertain significance	1012183		GRCh37: 18:33736484-33736484 GRCh38: 18:36156521-36156521
11	ELP2	NM_018255.4(ELP2):c.1381C>A (p.Leu461Ile)	SNV	Uncertain significance	1030308		GRCh37: 18:33736534-33736534 GRCh38: 18:36156571-36156571
12	ELP2	NM_018255.4(ELP2):c.2236T>C (p.Cys746Arg)	SNV	Uncertain significance	1031244		GRCh37: 18:33751035-33751035 GRCh38: 18:36171072-36171072
13	ELP2	NM_018255.4(ELP2):c.918A>T (p.Arg306Ser)	SNV	Uncertain significance	1033373		GRCh37: 18:33725936-33725936 GRCh38: 18:36145973-36145973
14	ELP2	NM_018255.4(ELP2):c.178C>T (p.Arg60Ter)	SNV	Uncertain significance	1033375		GRCh37: 18:33713240-33713240 GRCh38: 18:36133277-36133277
15	ELP2	NM_018255.4(ELP2):c.2045A>T (p.Lys682Met)	SNV	Uncertain significance	1033377		GRCh37: 18:33747154-33747154 GRCh38: 18:36167191-36167191
16	ELP2	NM_018255.4(ELP2):c.2396C>T (p.Ala799Val)	SNV	Uncertain significance	788374	rs35629953	GRCh37: 18:33754519-33754519 GRCh38: 18:36174556-36174556

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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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Mental Retardation, Autosomal Recessive 58 (MRT58)

Aliases & Classifications for Mental Retardation, Autosomal Recessive 58

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 58:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Mental Retardation, Autosomal Recessive 58

Related Diseases for Mental Retardation, Autosomal Recessive 58

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 58

Human phenotypes related to Mental Retardation, Autosomal Recessive 58:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 58

Genetic Tests for Mental Retardation, Autosomal Recessive 58

Genetic tests related to Mental Retardation, Autosomal Recessive 58:

Anatomical Context for Mental Retardation, Autosomal Recessive 58

Publications for Mental Retardation, Autosomal Recessive 58

Articles related to Mental Retardation, Autosomal Recessive 58:

Genes for Mental Retardation, Autosomal Recessive 58

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

Variations for Mental Retardation, Autosomal Recessive 58

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

Expression for Mental Retardation, Autosomal Recessive 58

Pathways for Mental Retardation, Autosomal Recessive 58

GO Terms for Mental Retardation, Autosomal Recessive 58

Sources for Mental Retardation, Autosomal Recessive 58