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Details
Link-It Detail - Disease - Dysautonomia, Familial
Debug Stats
  • ### Total Build Time: 49 ms 38.104 KB
  • CONCEPT_NAME gt=11 ms Completed: 11 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 312 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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  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 1,020 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=9 ms Completed: 9 ms rowSize= 13.359 KB
  • CONCEPT_RELATIONSHIPS gt=19 ms Completed: 19 ms rowSize= 13.625 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 8.053 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (1)
Dysautonomia, Familial C0013364
Definition (1)
A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (2)
img Primary Dysautonomias C0013363
img Hereditary Sensory and Autonomic Neuropathies C0027889
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Autonomic Nervous System Diseases C11456284img Primary Dysautonomias C0013363
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278686img Hereditary Sensory and Autonomic Neuropathies C0027889
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Hereditary Sensory and Autonomic Neuropathies C0027889
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Hereditary Sensory and Autonomic Neuropathies C0027889
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278687img Hereditary Sensory and Autonomic Neuropathies C0027889
img Immune System Diseases C0021053img Autoimmune Diseases C00043646img Hereditary Sensory and Autonomic Neuropathies C0027889
img Nervous System Diseases C0027765img Autoimmune Diseases of the Nervous System C07518715img Hereditary Sensory and Autonomic Neuropathies C0027889
img Nervous System Diseases C0027765img Demyelinating Diseases C00113035img Hereditary Sensory and Autonomic Neuropathies C0027889
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Hereditary Sensory and Autonomic Neuropathies C0027889
img Nervous System Diseases C0027765img Nervous System Malformations C04975524img Hereditary Sensory and Autonomic Neuropathies C0027889
Relationships (58)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 50
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 9
associated_​with : 1
clinically_​similar : 1
location_​of : 1
manifestation_​of : 45
used_​for : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN24img genetic aspects C0017399
DISO_to_DISO21img Complication Aspects C1171258
DISO_to_PHEN21img genetic aspects C0017399
DISO_to_DISO18img Complication Aspects C1171258
DISO_to_CHEM15img Carrier Protein C0007292
DISO_to_CHEM9img Carrier Protein C0007292
DISO_to_PHYS5img Mutation C0026882
DISO_to_CHEM4img Kinetin C0049579
DISO_to_PHYS4img Gene Expression Regulation C0017263
DISO_to_ANATlocation_ofimg Autonomic Nervous System C0004388
DISO_to_DISOmanifestation_ofimg ACROCYANOSIS C0221347
DISO_to_DISOclinically_similarimg AUTONOMIC NEUROPATHY C0259749
DISO_to_DISOmanifestation_ofimg Abnormal coordination C0520966
DISO_to_DISOmanifestation_ofimg Absent axonal flare response after intradermal histamine injection C1857168
DISO_to_DISOmanifestation_ofimg Alacrima C0344505
DISO_to_DISOmanifestation_ofimg Arthropathy, Neurogenic C0003892
DISO_to_DISOmanifestation_ofimg Azotemia C0242528
DISO_to_DISOmanifestation_ofimg CORNEAL ULCER C0010043
DISO_to_DISOmanifestation_ofimg CREATININE SERUM INCREASED C0700225
DISO_to_DISOmanifestation_ofimg Caused by mutation in the inhibitor of kappa light polypeptide gene enhancer in B cells, kinase complex-associated protein gene (IKBKAP, 603722.0001) C1857177
DISO_to_DISOassociated_withimg Congenital Abnormalities C0000768
DISO_to_DISOmanifestation_ofimg Constipation C0009806
DISO_to_DISOmanifestation_ofimg Corneal reflex depressed C0151572
DISO_to_DISOmanifestation_ofimg Decreased Reflex C0151888
DISO_to_DISOmanifestation_ofimg Decreased large myelinated fibers C1857161
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanCTNNAL18727catenin (cadherin-associated protein), alpha-like 1
img GENERIF, Score=694, Pubmed Id: 11768226, UMLKSK CUI: C0013364
HumanIKBKAP8518inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
img GENERIF, Score=1000, Pubmed Id: 12102458, UMLKSK CUI: C0013364
img GENERIF, Score=734, Pubmed Id: 16713582, UMLKSK CUI: C0013364
img GENERIF, Score=1000, Pubmed Id: 18303054, UMLKSK CUI: C0013364
img GENERIF, Score=1000, Pubmed Id: 18091349, UMLKSK CUI: C0013364
img GAD, Score=1000, Pubmed Id: 12116234, UMLKSK CUI: C0013364
img GENERIF, Score=861, Pubmed Id: 16964593, UMLKSK CUI: C0013364
img GENERIF, Score=1000, Pubmed Id: 12577200, UMLKSK CUI: C0013364
HumanS100A126283S100 calcium binding protein A12
img GENERIF, Score=734, Pubmed Id: 11884210, UMLKSK CUI: C0013364
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0013364Dysautonomia, Familial0self