Details of Disease

General Information of Disease (ID: DISINB3A)

Disease Name Intellectual disability, autosomal recessive 1
Synonyms
mental retardation, autosomal recessive 1; MRT1; intellectual disability, autosomal recessive type 1; mental retardation, autosomal recessive type 1; autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12; PRSS12 autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive 1
Definition Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene.
Disease Hierarchy
DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
DISINB3A: Intellectual disability, autosomal recessive 1
Disease Identifiers
MONDO ID
MONDO_0009580
MESH ID
C565406
UMLS CUI
C1855304
OMIM ID
249500
MedGen ID
344468

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CRBN TTDKGTC Strong Biomarker [1]
PRSS12 TT2JYUE Strong Biomarker [2]
PRSS12 TT2JYUE Definitive Autosomal recessive [3]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GEN1 OT1XFQXF moderate Genetic Variation [2]
NTHL1 OTPQXPT1 moderate Biomarker [2]
SNX27 OTVPS7S0 moderate Biomarker [2]
PRSS12 OT1MYL3L Definitive Autosomal recessive [3]
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References

1 Rescue of Learning and Memory Deficits in the Human Nonsyndromic Intellectual Disability Cereblon Knock-Out Mouse Model by Targeting the AMP-Activated Protein Kinase-mTORC1 Translational Pathway.J Neurosci. 2018 Mar 14;38(11):2780-2795. doi: 10.1523/JNEUROSCI.0599-17.2018. Epub 2018 Feb 19.
2 Systematic analysis of DNA crosslink repair pathways during development and aging in Caenorhabditis elegans.Nucleic Acids Res. 2017 Sep 19;45(16):9467-9480. doi: 10.1093/nar/gkx660.
3 Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science. 2002 Nov 29;298(5599):1779-81. doi: 10.1126/science.1076521.