fragile X syndrome

Summary
Synonym
  • FRAGILE X MENTAL RETARDATION SYNDROME
  • MARKER X SYNDROME
  • MARTIN-BELL SYNDROME
Definition
A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
Super Class
X-linked dominant disease syndrome
Disease Ontology
DOID:14261
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
2332 FMR1 fragile X messenger ribonucleoprotein 1
4318 MMP9 matrix metallopeptidase 9
8087 FXR1 FMR1 autosomal homolog 1
9513 FXR2 FMR1 autosomal homolog 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
14359 Fxr1 FMR1 autosomal homolog 1
17395 Mmp9 matrix metallopeptidase 9
Displaying 1 entry
Gene ID Gene Symbol Description Source
81687 Mmp9 matrix metallopeptidase 9
Displaying all 2 entries
Gene ID Gene Symbol Description Source
179991 zmp-4 Hemopexin;Peptidase metallopeptidase domain-containing protein
180351 W01F3.2 Uncharacterized protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024