Details of Disease

General Information of Disease (ID: DISDPS6G)

Disease Name FRAXE intellectual disability
Synonyms
intellectual disability, X-linked, associated with fragile site FRAXE; FRAXE intellectual disability syndrome; mental retardation, X-linked, associated with fragile site FRAXE; fragile XE syndrome; FRAXE syndrome; X-linked intellectual disability associated with fragile site FRAXE; FRAXE mental retardation syndrome; fragile site, folic acid type; X-linked mental retardation associated with fragile site FRAXE; intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability; intellectual developmental disorder, X-linked 109, X-linked recessive
Definition A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.
Disease Hierarchy
DIS71AI3: Non-syndromic X-linked intellectual disability
DISDPS6G: FRAXE intellectual disability
Disease Identifiers
MONDO ID
MONDO_0010659
MESH ID
D005600
UMLS CUI
C0751157
OMIM ID
309548
MedGen ID
155512
Orphanet ID
100973

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
APP TTE4KHA Strong Therapeutic [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FMR1 OTWEV0T5 Disputed Biomarker [2]
GTF2A1L OTDQHVAI Strong Genetic Variation [3]
STON1 OT2HPUAI Strong Genetic Variation [3]
AFF2 OTMF1PZW Definitive X-linked [4]
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References

1 Reversal of fragile X phenotypes by manipulation of APP/A levels in Fmr1KO mice.PLoS One. 2011;6(10):e26549. doi: 10.1371/journal.pone.0026549. Epub 2011 Oct 26.
2 Acamprosate in a mouse model of fragile X syndrome: modulation of spontaneous cortical activity, ERK1/2 activation, locomotor behavior, and anxiety.J Neurodev Disord. 2017 Jun 12;9:6. doi: 10.1186/s11689-017-9184-y. eCollection 2017.
3 The mixed-lineage leukemia fusion partner AF4 stimulates RNA polymerase II transcriptional elongation and mediates coordinated chromatin remodeling.Hum Mol Genet. 2007 Jan 1;16(1):92-106. doi: 10.1093/hmg/ddl444. Epub 2006 Nov 29.
4 Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion. Am J Med Genet A. 2011 Aug;155A(8):2003-7. doi: 10.1002/ajmg.a.34122. Epub 2011 Jul 7.