Mental Retardation, Autosomal Recessive 50 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Mental Retardation, Autosomal Recessive 50

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 50:

Name: Mental Retardation, Autosomal Recessive 50 ⁵⁷ ⁷⁵ ⁶

Mrt50 ⁵⁷ ⁷⁵

Mental Retardation, Autosomal Recessive, Type 50 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in first year of life
two sibs from a consanguineous syrian family have been reported (last curated july 2015)

HPO:

³²

mental retardation, autosomal recessive 50:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616460

MedGen ⁴² C4225319 CN231449

MeSH ⁴⁴ D008607

SNOMED-CT via HPO ⁶⁹ 258211005 271611007 60700002 more

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Summaries for Mental Retardation, Autosomal Recessive 50

UniProtKB/Swiss-Prot : ⁷⁵ Mental retardation, autosomal recessive 50: 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. MRT50 patients show mild intellectual disability and microcephaly.

MalaCards based summary : Mental Retardation, Autosomal Recessive 50, is also known as mrt50. An important gene associated with Mental Retardation, Autosomal Recessive 50 is EDC3 (Enhancer Of MRNA Decapping 3). Affiliated tissues include skin, bone and eye, and related phenotypes are microcephaly and sensorineural hearing impairment

Description from OMIM: 616460

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Related Diseases for Mental Retardation, Autosomal Recessive 50

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	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
Autosomal Dominant Mental Retardation 55

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Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 50

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
intellectual disability, mild

Head And Neck Head:
microcephaly (down to -3.6 sd)

Head And Neck Ears:
sensorineural hearing loss (1 patient)

Clinical features from OMIM:

616460

Human phenotypes related to Mental Retardation, Autosomal Recessive 50:

³²

#	Description	HPO Frequency	HPO Source Accession
1	microcephaly ³²		HP:0000252
2	sensorineural hearing impairment ³²	occasional (7.5%)	HP:0000407
3	intellectual disability, mild ³²		HP:0001256

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Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 50

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 50

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Genetic Tests for Mental Retardation, Autosomal Recessive 50

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Anatomical Context for Mental Retardation, Autosomal Recessive 50

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 50:

⁴¹

Skin, Bone, Eye

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Publications for Mental Retardation, Autosomal Recessive 50

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Genes for Mental Retardation, Autosomal Recessive 50

Genes related to Mental Retardation, Autosomal Recessive 50 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EDC3	Enhancer Of MRNA Decapping 3	Protein Coding	1277.62	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	25701870

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Variations for Mental Retardation, Autosomal Recessive 50

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 50:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	EDC3	p.Phe54Ser	VAR_073963	rs105751767

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 50:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	EDC3	NM_001142443.2(EDC3): c.161T> C (p.Phe54Ser)	single nucleotide variant	Pathogenic	rs1057517676	GRCh38	Chromosome 15, 74674964: 74674964
2	EDC3	NM_001142443.2(EDC3): c.161T> C (p.Phe54Ser)	single nucleotide variant	Pathogenic	rs1057517676	GRCh37	Chromosome 15, 74967305: 74967305

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Expression for Mental Retardation, Autosomal Recessive 50

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 50.

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Pathways for Mental Retardation, Autosomal Recessive 50

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GO Terms for Mental Retardation, Autosomal Recessive 50

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Sources for Mental Retardation, Autosomal Recessive 50

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Mental Retardation, Autosomal Recessive 50 (MRT50)

Aliases & Classifications for Mental Retardation, Autosomal Recessive 50

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 50:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Mental Retardation, Autosomal Recessive 50

Related Diseases for Mental Retardation, Autosomal Recessive 50

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 50

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Mental Retardation, Autosomal Recessive 50:

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 50

Genetic Tests for Mental Retardation, Autosomal Recessive 50

Anatomical Context for Mental Retardation, Autosomal Recessive 50

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 50:

Publications for Mental Retardation, Autosomal Recessive 50

Genes for Mental Retardation, Autosomal Recessive 50

Genes related to Mental Retardation, Autosomal Recessive 50 (1 elite genes):

Variations for Mental Retardation, Autosomal Recessive 50

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 50:

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 50:

Expression for Mental Retardation, Autosomal Recessive 50

Pathways for Mental Retardation, Autosomal Recessive 50

GO Terms for Mental Retardation, Autosomal Recessive 50

Sources for Mental Retardation, Autosomal Recessive 50