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 - Leukodystrophy, Metachromatic
Debug Stats
  • ### Total Build Time: 249 ms 44.412 KB
  • CONCEPT_NAME gt=19 ms Completed: 19 ms rowSize= 356 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 693 bytes
  • 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=2 ms Completed: 2 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 1,022 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=15 ms Completed: 15 ms rowSize= 16.012 KB
  • CONCEPT_RELATIONSHIPS gt=190 ms Completed: 190 ms rowSize= 13.965 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 11.031 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.163 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Leukodystrophy, Metachromatic C0023522
Definition (1)
An autosomal recessive inherited disorder characterized by abnormalities in the development of the myelin sheaths. It is caused by a deficiency of the enzyme arylsulfatase A. There are three forms of this disease: late infantile, juvenile, and adult. In the late infantile form symptoms include muscle weakness and rigidity, gait disturbances, developmental delays, and seizures. In the juvenile form symptoms include gait disturbances, mental deterioration and seizures. The adult form is characterized by psychotic symptoms and dementia.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Sulfatidosis C1706192
img Hereditary Central Nervous System Demyelinating Diseases C0751877
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Sulfatidosis C1706192
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255178img Sulfatidosis C1706192
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501238img Sulfatidosis C1706192
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076829img Sulfatidosis C1706192
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Demyelinating Diseases C00113034img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Hereditary Central Nervous System Demyelinating Diseases C0751877
Relationships (63)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 3
diso_​to_​diso : 53
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 9
associated_​with : 2
entry_​version_​of : 1
is_​associated_​anatomic_​site_​of : 1
isa : 4
manifestation_​of : 41
mapped_​to : 1
related_​to : 4
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN46img genetic aspects C0017399
DISO_to_PHEN44img genetic aspects C0017399
DISO_to_CHEM36img Cerebroside-Sulfatase C0007804
DISO_to_CHEM34img Cerebroside-Sulfatase C0007804
DISO_to_DISO23img Complication Aspects C1171258
DISO_to_ANAT12img Brain C0006104
DISO_to_PHYS12img Mutation C0026882
DISO_to_PHYS11img Mutation C0026882
DISO_to_PHYS9img Mutation, Missense C0599155
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_CHEMassociated_withimg Arylsulfatases C0003940
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg Abnormal gallbladder function C0232769
DISO_to_DISOmanifestation_ofimg Adult onset after puberty C1855270
DISO_to_DISOmanifestation_ofimg Adult onset form usually presents with psychiatric manifestations C1855271
DISO_to_DISOisaimg Arylsulfatase A Deficiency C2713319
DISO_to_DISOmanifestation_ofimg Ataxia C0004134
DISO_to_DISOmanifestation_ofimg BULBAR PALSY C0030442
DISO_to_DISOmanifestation_ofimg Behavioral disturbances C1822046
DISO_to_DISOmanifestation_ofimg Caused by mutation in the arylsulfatase A gene (ARSA, 607574.0003) C1855267
DISO_to_DISOmanifestation_ofimg Cerebral white matter abnormalities C1855260
DISO_to_DISOmanifestation_ofimg Cerebrospinal fluid (CSF) with increased protein C1806780
DISO_to_DISOmanifestation_ofimg Cholecystitis C0008325
DISO_to_DISOmanifestation_ofimg Chorea C0008489
DISO_to_DISOmanifestation_ofimg DEMYELINATION C0011304
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanSLC6A46532solute carrier family 6 (neurotransmitter transporter), member 4
img GENERIF, Score=1000, Pubmed Id: 18831910, UMLKSK CUI: C0023522
HumanARSA410arylsulfatase A
img GAD, Score=1000, Pubmed Id: 9452102, UMLKSK CUI: C0023522
img GENERIF, Score=734, Pubmed Id: 16311251, UMLKSK CUI: C0023522
img GENERIF, Score=1000, Pubmed Id: 15772092, UMLKSK CUI: C0023522
img GAD, Score=1000, Pubmed Id: 16140556, UMLKSK CUI: C0023522
img GENERIF, Score=1000, Pubmed Id: 17845130, UMLKSK CUI: C0023522
img GENERIF, Score=1000, Pubmed Id: 16678723, UMLKSK CUI: C0023522
img GENERIF, Score=694, Pubmed Id: 15026521, UMLKSK CUI: C0023522
img GENERIF, Score=924, Pubmed Id: 19021637, UMLKSK CUI: C0023522
img GENERIF, Score=1000, Pubmed Id: 18693274, UMLKSK CUI: C0023522
img GENERIF, Score=1000, Pubmed Id: 17660863, UMLKSK CUI: C0023522
img GENERIF, Score=734, Pubmed Id: 11941485, UMLKSK CUI: C0023522
img GENERIF, Score=1000, Pubmed Id: 11333871, UMLKSK CUI: C0023522
img GENERIF, Score=1000, Pubmed Id: 16110195, UMLKSK CUI: C0023522
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0023522Leukodystrophy, Metachromatic0self