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Details
Link-It Detail - Disease - Porphyrias, Hepatic
Debug Stats
  • ### Total Build Time: 62 ms 25.933 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 383 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 658 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=5 ms Completed: 5 ms rowSize= 1.386 KB
  • CONCEPT_CHILDREN gt=7 ms Completed: 7 ms rowSize= 2.724 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 9.240 KB
  • CONCEPT_RELATIONSHIPS gt=17 ms Completed: 17 ms rowSize= 5.646 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 4.557 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Porphyrias, Hepatic C0162533
Hepatic Porphyria
Definition (1)
A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Liver Diseases C0023895
img Porphyrias C0032708
img Skin Diseases, Genetic C0037277
Children (6)
img Porphyria, Acute Intermittent C0162565
img Coproporphyria, Hereditary C0162531
img Porphyria Cutanea Tarda C0162566
img Porphyria, Hepatoerythropoietic C0162569
img Porphyria, Variegate C0162532
img Protoporphyria, Erythropoietic C0162568
Ancestral Roots
RootRoot Plus OneDepthParent
img Digestive System Diseases C0012242img Liver Diseases C00238953img Liver Diseases C0023895
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Porphyrias C0032708
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Porphyrias C0032708
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Porphyrias C0032708
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Porphyrias C0032708
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Diseases, Genetic C0037277
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Skin Diseases, Genetic C0037277
Relationships (12)

Relation Types:
diso_​to_​chem : 4
diso_​to_​diso : 6
diso_​to_​phen : 2


Relationships:
none : 8
isa : 3
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN18img genetic aspects C0017399
DISO_to_CHEM10img Oxidoreductases Acting on CH CH Group Donors C1257961
DISO_to_CHEM10img Oxidoreductases Acting on CH-CH Group Donors C1257961
DISO_to_DISO9img Complication Aspects C1171258
DISO_to_CHEM5img Oxidoreductase C0030016
DISO_to_CHEM5img Oxidoreductases C0030016
DISO_to_DISO5img chemically induced C0007994
DISO_to_PHEN5img genetic aspects C0017399
DISO_to_DISOisaimg Coproporphyria, Hereditary C0162531
DISO_to_DISOpermuted_term_ofimg Hepatic Porphyria C0162533
DISO_to_DISOisaimg Porphyria Cutanea Tarda C0162566
DISO_to_DISOisaimg Porphyria, Variegate C0162532
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanHAMP57817hepcidin antimicrobial peptide
INFERRED, Score=800, UMLKSK CUI: C0162533
HumanUROD7389uroporphyrinogen decarboxylase
INFERRED, Score=800, UMLKSK CUI: C0162533
HumanTFRC7037transferrin receptor (p90, CD71)
INFERRED, Score=800, UMLKSK CUI: C0162533
HumanPPOX5498protoporphyrinogen oxidase
INFERRED, Score=800, UMLKSK CUI: C0162533
HumanHFE3077hemochromatosis
INFERRED, Score=800, UMLKSK CUI: C0162533
HumanCYP1A21544cytochrome P450, family 1, subfamily A, polypeptide 2
INFERRED, Score=800, UMLKSK CUI: C0162533
HumanCPOX1371coproporphyrinogen oxidase
INFERRED, Score=800, UMLKSK CUI: C0162533
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162533Porphyrias, Hepatic0self