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Details
Link-It Detail - Disease - Coproporphyria, Hereditary
Debug Stats
  • ### Total Build Time: 44 ms 28.516 KB
  • CONCEPT_NAME gt=19 ms Completed: 19 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 494 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=0 Completed: 0 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= 555 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 9.274 KB
  • CONCEPT_RELATIONSHIPS gt=15 ms Completed: 15 ms rowSize= 13.616 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 2.880 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (1)
Coproporphyria, Hereditary C0162531
Definition (1)
An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Porphyrias, Hepatic C0162533
Ancestral Roots
RootRoot Plus OneDepthParent
img Digestive System Diseases C0012242img Liver Diseases C00238954img Porphyrias, Hepatic C0162533
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img 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 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
Relationships (40)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 37
diso_​to_​phen : 1


Relationships:
none : 2
associated_​with : 2
isa : 1
manifestation_​of : 31
mapped_​to : 1
permuted_​term_​of : 1
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_CHEM7img COPROPORPHYRINOGEN OXIDASE C0009985
DISO_to_PHEN7img genetic aspects C0017399
DISO_to_CHEMassociated_withimg COPROPORPHYRINOGEN OXIDASE C0009985
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg Abdominal pain (HCP) C1969977
DISO_to_DISOmanifestation_ofimg Acute episodes of neuropathic symptoms (HCP) C1969967
DISO_to_DISOmanifestation_ofimg Anxiety (HCP) C1969969
DISO_to_DISOmanifestation_ofimg Attacks precipitated by drugs, alcohol, and endocrine factors (HCP) C1969993
DISO_to_DISOmanifestation_ofimg Attacks rarely occur before puberty (HCP) C1969992
DISO_to_DISOmanifestation_ofimg Caused by mutation in the coproporphyrinogen oxidase gene (CPO, 612732.0001) C3149078
DISO_to_DISOmapped_toimg Coproporphyria C0342856
DISO_to_DISOpermuted_term_ofimg Coproporphyria, Hereditary C0162531
DISO_to_DISOisaimg Coproporphyria, erythropoietic C0268321
DISO_to_DISOmanifestation_ofimg Decreased coproporphyrinogen oxidase activity (HCP, lymphocytes, 50% of normal) C1969980
DISO_to_DISOmanifestation_ofimg Depression (HCP) C1969970
DISO_to_DISOmanifestation_ofimg Diarrhea (HCP) C1969979
DISO_to_DISOmanifestation_ofimg Disorientation (HCP) C1969972
DISO_to_DISOrelated_toimg HARDEROPORPHYRIA C0342859
DISO_to_DISOmanifestation_ofimg Hallucinations (HCP) C1969973
DISO_to_DISOmanifestation_ofimg Hepatomegaly (harderoporphyria) C1969975
DISO_to_DISOmanifestation_ofimg Hypertension (HCP) C1969989
DISO_to_DISOmanifestation_ofimg Incomplete penetrance C1836598
DISO_to_DISOmanifestation_ofimg Increased coproporphyrin isomer III:I ratio (HCP, feces) C1969981
DISO_to_DISOmanifestation_ofimg Increased harderoporphyrin excretion (feces, harderoporphyria) C1969982
DISO_to_DISOmanifestation_ofimg Insomnia (HCP) C1969971
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanCPOX1371coproporphyrinogen oxidase
img GENERIF, Score=1000, Pubmed Id: 16176984, UMLKSK CUI: C0162531
img GENERIF, Score=1000, Pubmed Id: 12181641, UMLKSK CUI: C0162531
img GENERIF, Score=1000, Pubmed Id: 18557518, UMLKSK CUI: C0162531
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162531Coproporphyria, Hereditary0self