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Details
Link-It Detail - Disease - Porphyria Cutanea Tarda
Debug Stats
  • ### Total Build Time: 78 ms 38.111 KB
  • CONCEPT_NAME gt=11 ms Completed: 11 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 536 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=1 ms Completed: 1 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= 555 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 9.274 KB
  • CONCEPT_RELATIONSHIPS gt=52 ms Completed: 52 ms rowSize= 14.509 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 11.551 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Porphyria Cutanea Tarda C0162566
Definition (1)
An autosomal dominant or acquired porphyria due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in the LIVER. It is characterized by photosensitivity and cutaneous lesions with little or no neurologic symptoms. Type I is the acquired form and is strongly associated with liver diseases and hepatic toxicities caused by alcohol or estrogenic steroids. Type II is the familial form.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Porphyrias, Hepatic C0162533
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Porphyrias, Hepatic C0162533
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Porphyrias, Hepatic C0162533
img Digestive System Diseases C0012242img Liver Diseases C00238954img Porphyrias, Hepatic C0162533
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Porphyrias, Hepatic C0162533
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Porphyrias, Hepatic C0162533
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372746img Porphyrias, Hepatic C0162533
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Porphyrias, Hepatic C0162533
Relationships (32)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 8
diso_​to_​diso : 15
diso_​to_​gene : 3
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 14
associated_​with : 2
clinically_​similar : 2
gene_​associated_​with_​disease : 2
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 3
may_​treat : 4
related_​to : 1
used_​for : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN33img genetic aspects C0017399
DISO_to_PHEN31img genetic aspects C0017399
DISO_to_DISO30img Complication Aspects C1171258
DISO_to_DISO23img Complication Aspects C1171258
DISO_to_DISO16img Hepatitis C C0019196
DISO_to_CHEM14img UROPORPHYRINOGEN DECARBOXYLASE C0042085
DISO_to_DISO14img Hemochromatosis C0018995
DISO_to_DISO13img chemically induced C0007994
DISO_to_DISO12img chemically induced C0007994
DISO_to_CHEM11img Membrane Associated Proteins C0025252
DISO_to_PHYS11img Mutation C0026882
DISO_to_CHEM10img Histocompatibility Antigens Class I C0019629
DISO_to_PHYS10img Mutation C0026882
DISO_to_DISO9img Hepatitis C C0019196
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Skin C1123023
DISO_to_CHEMmay_treatimg HCQ C0020336
DISO_to_CHEMmay_treatimg HYDROXYCHLOROQUINE 155 MG ORAL TABLET, FILM COATED C0689151
DISO_to_CHEMmay_treatimg Hydroxychloroquine C0020336
DISO_to_CHEMmay_treatimg Hydroxychloroquine Sulfate C0596007
DISO_to_CHEMassociated_withimg UROPORPHYRINOGEN DECARBOXYLASE C0042085
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOisaimg Acquired hepatic porphyria C1276127
DISO_to_DISOis_finding_of_diseaseimg Cutaneous Involvement C1511567
DISO_to_DISOclinically_similarimg Familial porphyria cutanea tarda C0268323
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanHAMP57817hepcidin antimicrobial peptide
img GENERIF, Score=923, Pubmed Id: 18809758, UMLKSK CUI: C0162566
HumanUROD7389uroporphyrinogen decarboxylase
img GENERIF, Score=679, Pubmed Id: 15186324, UMLKSK CUI: C0162566
img GENERIF, Score=1000, Pubmed Id: 15046048, UMLKSK CUI: C0162566
HumanTFRC7037transferrin receptor (p90, CD71)
img GAD, Score=1000, Pubmed Id: 11929045, UMLKSK CUI: C0162566
img GENERIF, Score=923, Pubmed Id: 11929045, UMLKSK CUI: C0162566
HumanHFE3077hemochromatosis
img GENERIF, Score=1000, Pubmed Id: 17062032, UMLKSK CUI: C0162566
img GAD, Score=1000, Pubmed Id: 11929045, UMLKSK CUI: C0162566
img GENERIF, Score=1000, Pubmed Id: 15101996, UMLKSK CUI: C0162566
img GENERIF, Score=1000, Pubmed Id: 17298224, UMLKSK CUI: C0162566
img GENERIF, Score=1000, Pubmed Id: 15280838, UMLKSK CUI: C0162566
img GENERIF, Score=1000, Pubmed Id: 17729389, UMLKSK CUI: C0162566
HumanCYP1A21544cytochrome P450, family 1, subfamily A, polypeptide 2
img GAD, Score=1000, Pubmed Id: 11153915, UMLKSK CUI: C0162566
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162566Porphyria Cutanea Tarda0self