MRT68
MCID: INT336
MIFTS: 18

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 58 76 6
Mental Retardation, Autosomal Recessive 68 58 76
Mrt68 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
intellectual developmental disorder, autosomal recessive 68:
Onset and clinical course infantile onset


Classifications:



Summaries for Intellectual Developmental Disorder, Autosomal Recessive 68

UniProtKB/Swiss-Prot : 76 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 seizures and abnormal facial shape

Description from OMIM: 618302

Related Diseases for Intellectual Developmental Disorder, Autosomal Recessive 68

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Recessive 68

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

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 abnormal facial shape 33 very rare (1%) HP:0001999
3 cerebellar atrophy 33 very rare (1%) HP:0001272
4 generalized hypotonia 33 very rare (1%) HP:0001290
5 periventricular leukomalacia 33 very rare (1%) HP:0006970
6 global developmental delay 33 HP:0001263
7 delayed speech and language development 33 HP:0000750
8 synophrys 33 HP:0000664
9 narrow palpebral fissure 33 HP:0045025
10 broad eyebrow 33 HP:0011229
11 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
global developmental delay
seizures (in some patients)
speech delay
delayed walking
cerebellar atrophy (in some patients)
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

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

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 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. ( 30289604 )
2018
2
The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families. ( 26308914 )
2015
3
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ( 21937992 )
2011

Variations for Intellectual Developmental Disorder, Autosomal Recessive 68

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRMT1 NM_001136035.3(TRMT1): c.657_688del (p.Gln219Hisfs) deletion Pathogenic GRCh38 Chromosome 19, 13112965: 13112996
2 TRMT1 NM_001136035.3(TRMT1): c.657_688del (p.Gln219Hisfs) deletion Pathogenic GRCh37 Chromosome 19, 13223779: 13223810
3 TRMT1 NM_001136035.3(TRMT1): c.1506+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 19, 13107750: 13107750
4 TRMT1 NM_001136035.3(TRMT1): c.1506+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 19, 13218564: 13218564
5 TRMT1 NM_001136035.3(TRMT1): c.1332_1333delGT (p.Tyr445Leufs) deletion Pathogenic GRCh38 Chromosome 19, 13109445: 13109446
6 TRMT1 NM_001136035.3(TRMT1): c.1332_1333delGT (p.Tyr445Leufs) deletion Pathogenic GRCh37 Chromosome 19, 13220259: 13220260

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

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10 dbSNP
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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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74 UMLS
75 UMLS via Orphanet
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