MRT67
MCID: INT335
MIFTS: 18

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 57 72 29 6
Mental Retardation, Autosomal Recessive 67 57 72
Mrt67 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
intellectual developmental disorder, autosomal recessive 67:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618295
OMIM Phenotypic Series 57 PS249500
MeSH 44 D008607

Summaries for Intellectual Developmental Disorder, Autosomal Recessive 67

UniProtKB/Swiss-Prot : 72 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 phenotypes are sensorineural hearing impairment and seizure

More information from OMIM: 618295 PS249500

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Recessive 67

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

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 very rare (1%) HP:0000407
2 seizure 31 very rare (1%) HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Genetic tests related to Intellectual Developmental Disorder, Autosomal Recessive 67:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder, Autosomal Recessive 67 29 EIF3F

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 PMID Year
1
Quantifying the contribution of recessive coding variation to developmental disorders. 57 6
30409806 2018
2
The translation regulatory subunit eIF3f controls the kinase-dependent mTOR signaling required for muscle differentiation and hypertrophy in mouse. 57
20126553 2010

Variations for Intellectual Developmental Disorder, Autosomal Recessive 67

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EIF3F NM_003754.3(EIF3F):c.671C>T (p.Pro224Leu) SNV Likely pathogenic 988781 GRCh37: 11:8015990-8015990
GRCh38: 11:7994443-7994443
2 EIF3F NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) SNV Conflicting interpretations of pathogenicity 617475 rs141976414 GRCh37: 11:8016013-8016013
GRCh38: 11:7994466-7994466
3 EIF3F NM_003754.3(EIF3F):c.653+3G>T SNV Uncertain significance 996992 GRCh37: 11:8014574-8014574
GRCh38: 11:7993027-7993027
4 EIF3F NM_003754.3(EIF3F):c.908C>T (p.Thr303Ile) SNV Uncertain significance 1028654 GRCh37: 11:8016826-8016826
GRCh38: 11:7995279-7995279

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder, Autosomal Recessive 67:

72
# Symbol AA change Variation ID SNP ID
1 EIF3F p.Phe232Val VAR_081783 rs141976414

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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