Hepatoerythropoietic porphyria
Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase (UROD). It has a similar presentation to porphyria cutanea tarda (PCT), but with earlier onset. In classifications which define PCT type 1 as "sporadic" and PCT type 2 as "familial", hepatoerythropoietic porphyria is more similar to type 2.
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Chromosome 1Erythropoietic porphyriaHEPHaemodialysis-associated amyloidosisHepatic porphyriaList of MeSH codes (C06)List of MeSH codes (C16)List of MeSH codes (C17)List of MeSH codes (C18)List of OMIM disorder codesList of dental abnormalities associated with cutaneous conditionsList of genetic disordersList of skin conditionsPorphyriaPorphyria, hepatoerythropoieticPorphyria cutanea tardaPorphyrin1,2-dimethoxyethaan
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Hepatoerythropoietic porphyria
Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase (UROD). It has a similar presentation to porphyria cutanea tarda (PCT), but with earlier onset. In classifications which define PCT type 1 as "sporadic" and PCT type 2 as "familial", hepatoerythropoietic porphyria is more similar to type 2.
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Hepatoerythropoietic porphyria ...... ria is more similar to type 2.
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La porfiria epatoeritropoietic ...... oporfirinogeno decarbossilasi.
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La porfiria hepatoeritropoyéti ...... CT que al tipo I (esporádico).
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Porfiria hepatoeritropoiética ...... tica é mais similar ao tipo 2.
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DiseasesDB
ICD10
MeSH ID
OMIM id
ORPHA
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995,750,324
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UroD drawn from .
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DiseasesDB
ICD
MeshID
D017121
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name
Hepatoerythropoietic porphyria
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OMIM
Orphanet
SNOMED CT
111,386,004
synonyms
HEP
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Hepatoerythropoietic porphyria ...... ria is more similar to type 2.
@en
La porfiria epatoeritropoietic ...... oporfirinogeno decarbossilasi.
@it
La porfiria hepatoeritropoyéti ...... CT que al tipo I (esporádico).
@es
Porfiria hepatoeritropoiética ...... quência, à fotossensibilidade.
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label
Hepatoerythropoietic porphyria
@en
Porfiria epatoeritropoietica
@it
Porfiria hepatoeritropoiética
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Porfiria hepatoeritropoyética
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name
Hepatoerythropoietic porphyria
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