同: HEP

WordNet

a genetic abnormality of metabolism causing abdominal pains and mental confusion

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/07/31 23:14:39」(JST)

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Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase (UROD).^[1]^[2]^:525

It has a similar presentation to porphyria cutanea tarda (PCT), but with earlier onset.^[3] In classifications which define PCT type 1 as "sporadic" and PCT type 2 as "familial", hepatoerythropoietic porphyria is more similar to type 2.

References

^ Phillips, JD; Whitby, FG; Stadtmueller, BM; Edwards, CQ; et al. (February 2007). "Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP)". Translational Research. 149 (2): 85–91. PMID 17240319. doi:10.1016/j.trsl.2006.08.006.
^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
^ "hepatoerythropoietic porphyria" at Dorland's Medical Dictionary

External links

Hepatoerythropoietic porphyria at NLM Genetics Home Reference
Hepatoerythropoietic porphyria at NIH's Office of Rare Diseases

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UpToDate Contents

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1. 晩発性皮膚ポルフィリン症および肝骨髄性ポルフィリン症 porphyria cutanea tarda and hepatoerythropoietic porphyria
2. ポルフィリン症：概要 porphyrias an overview
3. 光線過敏症（光線皮膚症）：臨床症状、診断、および治療 photosensitivity disorders photodermatoses clinical manifestations diagnosis and treatment
4. 先天性骨髄性ポルフィリン症 congenital erythropoietic porphyria
5. 遺伝コプロポルフィリン症 hereditary coproporphyria

English Journal

Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

Ramanujam VM1, Anderson KE1,2.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].Curr Protoc Hum Genet.2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86.
Porphyria diseases are a group of metabolic disorders caused by abnormal functioning of heme biosynthesis enzymes and characterized by excessive accumulation and excretion of porphyrins and their precursors. Precisely which of these chemicals builds up depends on the type of porphyria. Porphyria is
PMID 26132003

Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.

Farrag MS1, Mikula I1, Richard E2, Saudek V3, De Verneuil H2, Martásek P1.
Folia biologica.Folia Biol (Praha).2015;61(6):219-26.
Porphyrias are metabolic disorders resulting from mutations in haem biosynthetic pathway genes. Hepatoerythropoietic porphyria (HEP) is a rare type of porphyria caused by the deficiency of the fifth enzyme (uroporphyrinogen decarboxylase, UROD) in this pathway. The defect in the enzymatic activity i
PMID 26789143

Clinically important features of porphyrin and heme metabolism and the porphyrias.

Besur S1, Hou W2, Schmeltzer P3, Bonkovsky HL4.
Metabolites.Metabolites.2014 Nov 3;4(4):977-1006. doi: 10.3390/metabo4040977.
Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias. Porphyrias are classified as hepatic and erythropoietic porphyrias
PMID 25372274

Japanese Journal

A zebrafish model for hepatoerythropoietic porphyria.

Nat Genet 20, 239-243, 1998
NAID 80010646387

晩発性皮膚ポルフィリン症 (porphyria cutanea tarda), 肝骨髄性ポルフィリン症 (hepatoerythropoietic porphyria)

日臨 53, 1427-1432, 1995
NAID 50005194905

A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda : Biochemical and genetic studies on Spanish patients

J Invest Dermatol 104, 500-502, 1995
NAID 30014533758

「肝骨髄性ポルフィリン症」

Hepatoerythropoietic porphyria
	UroD drawn from PDB: 1URO.
Classification and external resources
ICD-10	E80.2 (ILDS E80.282)
ICD-9-CM	277.1
OMIM	176100
DiseasesDB	29123
MeSH	D017121
	[edit on Wikidata]