MRT67
MCID: INT335
MIFTS: 13

Intellectual Developmental Disorder, Autosomal Recessive 67 (MRT67)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Recessive 67

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Recessive 67:

Name: Intellectual Developmental Disorder, Autosomal Recessive 67 58 76 6
Mental Retardation, Autosomal Recessive 67 58 76
Mrt67 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of 9 patients (last curated december 2018)


Classifications:



External Ids:

OMIM 58 618295
MeSH 45 D008607
MedGen 43 CN258146

Summaries for Intellectual Developmental Disorder, Autosomal Recessive 67

UniProtKB/Swiss-Prot : 76 Intellectual developmental disorder, autosomal recessive 67: 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. Some MRT67 patients manifest seizures and sensorineural hearing loss.

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Recessive 67, is also known as mental retardation, autosomal recessive 67. An important gene associated with Intellectual Developmental Disorder, Autosomal Recessive 67 is EIF3F (Eukaryotic Translation Initiation Factor 3 Subunit F). Related phenotype is seizures.

Description from OMIM: 618295

Related Diseases for Intellectual Developmental Disorder, Autosomal Recessive 67

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Recessive 67

Human phenotypes related to Intellectual Developmental Disorder, Autosomal Recessive 67:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250

Symptoms via clinical synopsis from OMIM:

58
Neurologic:
seizures (in some patients)
normal mri
impaired intellectual development (severe in some patients)

Head And Neck Ears:
hearing loss, sensorineural (in some patients)

Clinical features from OMIM:

618295

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Recessive 67

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Recessive 67

Genetic Tests for Intellectual Developmental Disorder, Autosomal Recessive 67

Anatomical Context for Intellectual Developmental Disorder, Autosomal Recessive 67

Publications for Intellectual Developmental Disorder, Autosomal Recessive 67

Articles related to Intellectual Developmental Disorder, Autosomal Recessive 67:

# Title Authors Year
1
Quantifying the contribution of recessive coding variation to developmental disorders. ( 30409806 )
2018

Variations for Intellectual Developmental Disorder, Autosomal Recessive 67

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Recessive 67:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EIF3F NM_003754.3(EIF3F): c.694T> G (p.Phe232Val) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 8016013: 8016013
2 EIF3F NM_003754.3(EIF3F): c.694T> G (p.Phe232Val) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 7994466: 7994466

Expression for Intellectual Developmental Disorder, Autosomal Recessive 67

Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Recessive 67.

Pathways for Intellectual Developmental Disorder, Autosomal Recessive 67

GO Terms for Intellectual Developmental Disorder, Autosomal Recessive 67

Sources for Intellectual Developmental Disorder, Autosomal Recessive 67

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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