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Details
Link-It Detail - Disease - Leukodystrophy, Metachromatic
Debug Stats
  • ### Total Build Time: 60 ms 44.212 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 356 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 337 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
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 16.012 KB
  • CONCEPT_RELATIONSHIPS gt=43 ms Completed: 43 ms rowSize= 14.122 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 11.021 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.163 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Leukodystrophy, Metachromatic C0023522
Definition (1)
autosomal recessive lysosomal storage disease caused by a deficiency of cerebroside sulfatase leading to an accumulation of cerebroside sulfate in the nervous system and other organs.
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 Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501238img Sulfatidosis C1706192
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255178img Sulfatidosis C1706192
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076829img Sulfatidosis C1706192
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img 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 Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img 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
is_​associated_​anatomic_​site_​of : 1
isa : 6
manifestation_​of : 41
mapped_​to : 1
permuted_​term_​of : 1
related_​to : 1
use : 1
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 Missense Mutation 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_DISOuseimg 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 GENERIF, Score=734, Pubmed Id: 16311251, UMLKSK CUI: C0023522
img GENERIF, Score=1000, Pubmed Id: 16678723, UMLKSK CUI: C0023522
img GENERIF, Score=1000, Pubmed Id: 17660863, UMLKSK CUI: C0023522
img GENERIF, Score=1000, Pubmed Id: 11333871, UMLKSK CUI: C0023522
img GAD, Score=1000, Pubmed Id: 9452102, UMLKSK CUI: C0023522
img GENERIF, Score=1000, Pubmed Id: 16110195, UMLKSK CUI: C0023522
img GENERIF, Score=924, Pubmed Id: 19021637, UMLKSK CUI: C0023522
img GAD, Score=1000, Pubmed Id: 16140556, UMLKSK CUI: C0023522
img GENERIF, Score=1000, Pubmed Id: 18693274, UMLKSK CUI: C0023522
img GENERIF, Score=1000, Pubmed Id: 15772092, UMLKSK CUI: C0023522
img GENERIF, Score=1000, Pubmed Id: 17845130, UMLKSK CUI: C0023522
img GENERIF, Score=734, Pubmed Id: 11941485, UMLKSK CUI: C0023522
img GENERIF, Score=694, Pubmed Id: 15026521, UMLKSK CUI: C0023522
XRefs (1)

XRef Types:
cui : 1


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