Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Fragile X Syndrome
Debug Stats
  • ### Total Build Time: 75 ms 33.209 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 401 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 1.221 KB
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 1,006 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 10.690 KB
  • CONCEPT_RELATIONSHIPS gt=51 ms Completed: 51 ms rowSize= 13.630 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 4.920 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Fragile X Syndrome C0016667
FRAGILE X MENTAL RETARDATION SYNDROME
Definition (1)

Fragile X syndrome is the most common form of inherited mental retardation. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the mutation causes a person to make little or none of the protein, which results in the symptoms of Fragile X.

People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include

  • Intelligence problems, ranging from learning disabilities to severe mental retardation
  • Social and emotional problems, such as aggression in boys or shyness in girls
  • Speech and language problems, especially in boys

Fragile X has no cure. You can treat some symptoms with educational, behavioral or physical therapy, and with medicines. Getting treatment early for Fragile X can help.

NIH: National Institute of Child Health and Human Development

Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Mental Retardation, X-Linked C1136249
img Sex Chromosome Disorders C0949683
Ancestral Roots
RootRoot Plus OneDepthParent
img Mental Disorders C0004936img Mental Disorders Diagnosed in Childhood C05250405img Mental Retardation, X-Linked C1136249
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370887img Mental Retardation, X-Linked C1136249
img Nervous System Diseases C0027765img Neurologic Manifestations C00278546img Mental Retardation, X-Linked C1136249
img Behavior and Behavior Mechanisms C0004928img Neurobehavioral Manifestations C05250415img Mental Retardation, X-Linked C1136249
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Mental Retardation, X-Linked C1136249
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Mental Retardation, X-Linked C1136249
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Sex Chromosome Disorders C0949683
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Sex Chromosome Disorders C0949683
Relationships (80)

Relation Types:
diso_​to_​anat : 6
diso_​to_​chem : 10
diso_​to_​diso : 57
diso_​to_​phen : 2
diso_​to_​phys : 5


Relationships:
none : 41
alias_​of : 1
classifies : 2
inheritance_​type_​of : 1
manifestation_​of : 27
mapped_​to : 5
related_​to : 3
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN429img genetic aspects C0017399
DISO_to_PHEN355img genetic aspects C0017399
DISO_to_CHEM234img Fragile X Mental Retardation Protein C0118036
DISO_to_CHEM159img RNA-Binding Proteins C0085177
DISO_to_CHEM121img Nerve Tissue Proteins C0027759
DISO_to_DISO117img Complication Aspects C1171258
DISO_to_DISO61img Complication Aspects C1171258
DISO_to_DISO52img Tremor C0040822
DISO_to_DISO51img Autistic Disorder C0004352
DISO_to_DISO50img Ataxia C0004134
DISO_to_PHYS42img Mutation C0026882
DISO_to_CHEM38img Fragile X Mental Retardation Protein C0118036
DISO_to_DISO37img Expanded Trinucleotide Repeat C0524894
DISO_to_DISO37img Trinucleotide Repeat Expansion C0524894
DISO_to_ANAT35img Brain C0006104
DISO_to_DISO34img Tremor C0040822
DISO_to_DISO33img Intellectual Disability C0025362
DISO_to_CHEM32img GLUTAMATE RECEPT METAB C0206529
DISO_to_CHEM32img Receptors, Metabotropic Glutamate C0206529
DISO_to_DISO31img Autistic Disorder C0004352
DISO_to_CHEM26img Repeat, Trinucleotide C0282537
DISO_to_PHYS26img Mutation C0026882
DISO_to_ANAT24img Brain C0006104
DISO_to_DISO24img Down Syndrome C0013080
DISO_to_DISO23img Ataxia C0004134
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanTDRD381550tudor domain containing 3
img GENERIF, Score=1000, Pubmed Id: 18664458, UMLKSK CUI: C0016667
HumanDICER123405dicer 1, ribonuclease type III
img GENERIF, Score=694, Pubmed Id: 14576312, UMLKSK CUI: C0016667
HumanNRXN19378neurexin 1
img OMIM, Score=1000, UMLKSK CUI: C0016667
HumanGLO12739glyoxalase I
img OMIM, Score=1000, UMLKSK CUI: C0016667
HumanFMR12332fragile X mental retardation 1
Click here to display 18 evidence detail records.
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0016667Fragile X Syndrome0self