Mental Retardation, Autosomal Recessive 59 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Mental Retardation, Autosomal Recessive 59

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 59:

Name: Mental Retardation, Autosomal Recessive 59 ⁵⁷ ⁷⁵ ⁶

Mrt59 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

mental retardation, autosomal recessive 59:
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 617323

MedGen ⁴² C4310619 CN240390

MeSH ⁴⁴ D008607

SNOMED-CT via HPO ⁶⁹ 258211005 248004009 61372001 more

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Summaries for Mental Retardation, Autosomal Recessive 59

UniProtKB/Swiss-Prot : ⁷⁵ 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 aggressive behavior and intellectual disability

Description from OMIM: 617323

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Related Diseases for Mental Retardation, Autosomal Recessive 59

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 59

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
mental retardation, moderate to severe

Neurologic Behavioral Psychiatric Manifestations:
disruptive behavior
aggression
paranoia

Clinical features from OMIM:

617323

Human phenotypes related to Mental Retardation, Autosomal Recessive 59:

³²

#	Description	HPO Source Accession
1	aggressive behavior ³²	HP:0000718
2	intellectual disability ³²	HP:0001249
3	paranoia ³²	HP:0011999

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Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 59

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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Anatomical Context for Mental Retardation, Autosomal Recessive 59

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Publications for Mental Retardation, Autosomal Recessive 59

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Genes for Mental Retardation, Autosomal Recessive 59

Genes related to Mental Retardation, Autosomal Recessive 59 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	IMPA1	Inositol Monophosphatase 1	Protein Coding	927.66	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	26416544

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Variations for Mental Retardation, Autosomal Recessive 59

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

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	IMPA1	NM_001144878.1(IMPA1): c.666_670dupGGGCT (p.Ser224Trpfs)	duplication	Pathogenic	rs1057519491	GRCh37	Chromosome 8, 82583247: 82583251
2	IMPA1	NM_001144878.1(IMPA1): c.666_670dupGGGCT (p.Ser224Trpfs)	duplication	Pathogenic	rs1057519491	GRCh38	Chromosome 8, 81671012: 81671016

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Expression for Mental Retardation, Autosomal Recessive 59

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 for Mental Retardation, Autosomal Recessive 59

¹ BioSystems

² BitterDB

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⁵⁹ Orphanet

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia