MRT68
MCID: INT336
MIFTS: 22

Intellectual Developmental Disorder, Autosomal Recessive 68 (MRT68)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Recessive 68

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Recessive 68:

Name: Intellectual Developmental Disorder, Autosomal Recessive 68 57 72 29 6
Mental Retardation, Autosomal Recessive 68 57 72
Mrt68 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
variable phenotype
onset in infancy
some patients have no motor involvement


HPO:

31
intellectual developmental disorder, autosomal recessive 68:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Intellectual Developmental Disorder, Autosomal Recessive 68

UniProtKB/Swiss-Prot : 72 Intellectual developmental disorder, autosomal recessive 68: 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.

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Recessive 68, is also known as mental retardation, autosomal recessive 68. An important gene associated with Intellectual Developmental Disorder, Autosomal Recessive 68 is TRMT1 (TRNA Methyltransferase 1). Related phenotypes are pes planus and abnormal facial shape

More information from OMIM: 618302 PS249500

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Recessive 68

Human phenotypes related to Intellectual Developmental Disorder, Autosomal Recessive 68:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 pes planus 31 very rare (1%) HP:0001763
2 abnormal facial shape 31 very rare (1%) HP:0001999
3 cerebellar atrophy 31 very rare (1%) HP:0001272
4 generalized hypotonia 31 very rare (1%) HP:0001290
5 periventricular leukomalacia 31 very rare (1%) HP:0006970
6 seizure 31 very rare (1%) HP:0001250
7 global developmental delay 31 HP:0001263
8 wide nasal bridge 31 HP:0000431
9 delayed speech and language development 31 HP:0000750
10 microcephaly 31 HP:0000252
11 synophrys 31 HP:0000664
12 small for gestational age 31 HP:0001518
13 narrow palpebral fissure 31 HP:0045025
14 broad eyebrow 31 HP:0011229
15 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
global developmental delay
seizures (in some patients)
speech delay
delayed walking
impaired intellectual development
more
Head And Neck Nose:
broad nasal bridge

Growth Weight:
low birth weight

Muscle Soft Tissue:
hypotonia (in some patients)
muscle weakness, lower limbs (in some patients)

Head And Neck Head:
microcephaly, congenital, progressive (-4.5 sd) (in some patients)

Head And Neck Eyes:
synophrys
narrow palpebral fissures
broad eyebrows

Head And Neck Face:
hypoplastic maxilla
dysmorphic facial features, mild, variable (in some patients)

Growth Other:
poor overall growth

Skeletal Feet:
pes planus (in some patients)

Clinical features from OMIM®:

618302 (Updated 20-May-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Recessive 68

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Recessive 68

Genetic Tests for Intellectual Developmental Disorder, Autosomal Recessive 68

Genetic tests related to Intellectual Developmental Disorder, Autosomal Recessive 68:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder, Autosomal Recessive 68 29 TRMT1

Anatomical Context for Intellectual Developmental Disorder, Autosomal Recessive 68

Publications for Intellectual Developmental Disorder, Autosomal Recessive 68

Articles related to Intellectual Developmental Disorder, Autosomal Recessive 68:

# Title Authors PMID Year
1
Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability. 57 6
30289604 2018
2
The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families. 6 57
26308914 2015
3
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 57 6
21937992 2011

Variations for Intellectual Developmental Disorder, Autosomal Recessive 68

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Recessive 68:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRMT1 NM_001351762.2(TRMT1):c.-114_-83del Deletion Pathogenic 617602 rs746572548 GRCh37: 19:13223779-13223810
GRCh38: 19:13112965-13112996
2 TRMT1 NM_017722.4(TRMT1):c.1506+1G>T SNV Pathogenic 617603 rs1568361011 GRCh37: 19:13218564-13218564
GRCh38: 19:13107750-13107750
3 TRMT1 NM_001136035.4(TRMT1):c.312del (p.Lys105fs) Deletion Pathogenic 982958 GRCh37: 19:13226581-13226581
GRCh38: 19:13115767-13115767
4 TRMT1 NM_001136035.3(TRMT1):c.1332_1333del (p.Tyr445fs) Deletion Pathogenic 617604 rs1203487591 GRCh37: 19:13220259-13220260
GRCh38: 19:13109445-13109446
5 TRMT1 NM_001136035.4(TRMT1):c.1534C>T (p.Arg512Ter) SNV Likely pathogenic 997949 GRCh37: 19:13218437-13218437
GRCh38: 19:13107623-13107623
6 TRMT1 NM_001136035.4(TRMT1):c.1019+9G>C SNV Uncertain significance 1029137 GRCh37: 19:13220963-13220963
GRCh38: 19:13110149-13110149
7 TRMT1 NM_001136035.4(TRMT1):c.1078G>A (p.Gly360Ser) SNV Uncertain significance 1029138 GRCh37: 19:13220757-13220757
GRCh38: 19:13109943-13109943
8 TRMT1 NM_001136035.4(TRMT1):c.1833G>A (p.Glu611=) SNV Uncertain significance 1029139 GRCh37: 19:13216081-13216081
GRCh38: 19:13105267-13105267
9 TRMT1 NM_001136035.4(TRMT1):c.583C>T (p.Arg195Trp) SNV Uncertain significance 1029140 GRCh37: 19:13226151-13226151
GRCh38: 19:13115337-13115337
10 TRMT1 NM_001136035.4(TRMT1):c.814A>G (p.Thr272Ala) SNV Uncertain significance 1029141 GRCh37: 19:13223575-13223575
GRCh38: 19:13112761-13112761

Expression for Intellectual Developmental Disorder, Autosomal Recessive 68

Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Recessive 68.

Pathways for Intellectual Developmental Disorder, Autosomal Recessive 68

GO Terms for Intellectual Developmental Disorder, Autosomal Recessive 68

Sources for Intellectual Developmental Disorder, Autosomal Recessive 68

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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