MRT70
MCID: INT345
MIFTS: 13

Intellectual Developmental Disorder, Autosomal Recessive 70 (MRT70)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Recessive 70

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Recessive 70:

Name: Intellectual Developmental Disorder, Autosomal Recessive 70 58 6
Mental Retardation, Autosomal Recessive 70 58
Mrt70 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable features may be present
five bedouin sibs and 3 malaysian sibs have been reported (last curated april 2019)


Classifications:



External Ids:

OMIM 58 618402

Summaries for Intellectual Developmental Disorder, Autosomal Recessive 70

OMIM : 58 MRT70 is characterized primarily by impaired intellectual development. Mild facial dysmorphism, febrile seizures, and behavioral abnormalities have been reported in some patients (Maddirevula et al., 2018; Perez et al., 2018). (618402)

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Recessive 70, is also known as mental retardation, autosomal recessive 70. An important gene associated with Intellectual Developmental Disorder, Autosomal Recessive 70 is RSRC1 (Arginine And Serine Rich Coiled-Coil 1).

Related Diseases for Intellectual Developmental Disorder, Autosomal Recessive 70

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Recessive 70

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism

Head And Neck Nose:
broad nasal bridge

Neurologic Central Nervous System:
motor developmental delay
speech delay
intellectual disability, mild-to-moderate
febrile seizures (in childhood)
deficits in fine motor skills

Head And Neck Face:
retrognathia

Neurologic Behavioral Psychiatric Manifestations:
temper tantrums
attention deficit hyperactivity disorder (adhd)
self-harm behaviors
autistic features (in 1 patient)

Genitourinary Bladder:
incontinence

Clinical features from OMIM:

618402

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Recessive 70

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Recessive 70

Genetic Tests for Intellectual Developmental Disorder, Autosomal Recessive 70

Anatomical Context for Intellectual Developmental Disorder, Autosomal Recessive 70

Publications for Intellectual Developmental Disorder, Autosomal Recessive 70

Articles related to Intellectual Developmental Disorder, Autosomal Recessive 70:

# Title Authors Year
1
GWAS signals revisited using human knockouts. ( 28640246 )
2018
2
RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3. ( 29522154 )
2018

Variations for Intellectual Developmental Disorder, Autosomal Recessive 70

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Recessive 70:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RSRC1 NM_016625.3(RSRC1): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 157841728: 157841728
2 RSRC1 NM_016625.3(RSRC1): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 158123939: 158123939
3 RSRC1 NM_001271838.2(RSRC1): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 157841665: 157841665
4 RSRC1 NM_001271838.2(RSRC1): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 158123876: 158123876

Expression for Intellectual Developmental Disorder, Autosomal Recessive 70

Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Recessive 70.

Pathways for Intellectual Developmental Disorder, Autosomal Recessive 70

GO Terms for Intellectual Developmental Disorder, Autosomal Recessive 70

Sources for Intellectual Developmental Disorder, Autosomal Recessive 70

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18 ExPASy
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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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