MRT70
MCID: INT345
MIFTS: 19

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 57 72 29 6
Mental Retardation, Autosomal Recessive 70 57 72
Mrt70 57 72

Characteristics:

OMIM®:

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

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


HPO:

31
intellectual developmental disorder, autosomal recessive 70:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Intellectual Developmental Disorder, Autosomal Recessive 70

UniProtKB/Swiss-Prot : 72 Intellectual developmental disorder, autosomal recessive 70: 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. Intellectual deficiency is the only primary symptom of non-syndromic mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRT70 is characterized primarily by impaired intellectual development. Mild facial dysmorphism, febrile seizures, and behavioral abnormalities have been reported in some patients.

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 phenotypes are intellectual disability and hypertelorism

OMIM® : 57 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) (Updated 20-May-2021)

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Recessive 70

Human phenotypes related to Intellectual Developmental Disorder, Autosomal Recessive 70:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hypertelorism 31 HP:0000316
3 wide nasal bridge 31 HP:0000431
4 delayed speech and language development 31 HP:0000750
5 attention deficit hyperactivity disorder 31 HP:0007018
6 retrognathia 31 HP:0000278
7 motor delay 31 HP:0001270
8 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
hypertelorism

Genitourinary Bladder:
urinary incontinence

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

Head And Neck Face:
retrognathia

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

Clinical features from OMIM®:

618402 (Updated 20-May-2021)

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

Genetic tests related to Intellectual Developmental Disorder, Autosomal Recessive 70:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder, Autosomal Recessive 70 29 RSRC1

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 PMID Year
1
RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3. 6 57
29522154 2018
2
GWAS signals revisited using human knockouts. 57 6
28640246 2018

Variations for Intellectual Developmental Disorder, Autosomal Recessive 70

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RSRC1 NM_001271838.2(RSRC1):c.268C>T (p.Arg90Ter) SNV Pathogenic 626265 rs1183090232 GRCh37: 3:157841728-157841728
GRCh38: 3:158123939-158123939
2 RSRC1 NM_001271838.2(RSRC1):c.205C>T (p.Arg69Ter) SNV Pathogenic 626266 rs868818936 GRCh37: 3:157841665-157841665
GRCh38: 3:158123876-158123876
3 RSRC1 NM_001271838.2(RSRC1):c.196C>T (p.Arg66Cys) SNV Uncertain significance 1030571 GRCh37: 3:157841656-157841656
GRCh38: 3:158123867-158123867

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

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
Content
Loading form....