Hepatoerythropoietic porphyria

Hepatoerythropoietic porphyria
Other namesHEP[1]
UroD drawn from PDB: 1URO​.
SpecialtyDermatology, gastroenterology, medical genetics, endocrinology Edit this on Wikidata

Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase (UROD).[2][3]: 525 

It has a similar presentation to porphyria cutanea tarda (PCT), but with earlier onset.[4] In classifications which define PCT type 1 as "sporadic" and PCT type 2 as "familial", hepatoerythropoietic porphyria is more similar to type 2.

See also

References

  1. ^ "Hepatoerythropoietic porphyria | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 14 January 2020. Retrieved 17 April 2019.
  2. ^ 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. doi:10.1016/j.trsl.2006.08.006. PMID 17240319.
  3. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
  4. ^ "hepatoerythropoietic porphyria" at Dorland's Medical Dictionary


Stub icon

This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it.

Read other articles:

Repubblica parlamentare

Questa voce o sezione sull'argomento politica ha un'ottica geograficamente limitata. Contribuisci ad ampliarla o proponi le modifiche in discussione. Se la voce è approfondita, valuta se sia preferibile renderla una voce secondaria, dipendente da una più generale. Segui i suggerimenti del progetto di riferimento. Questa voce o sezione sugli argomenti diritto costituzionale e politica non cita le fonti necessarie o quelle presenti sono insufficienti. Puoi migliorare questa voce ag...

 

Ahmad dari Brunei

Ahmad dari Brunei adalah seorang raja Brunai yang naik tahta pada tahun 1408. Ia sebelumnya dikenal dengan nama Awang Pateh Berbai. Pangeran Bendahara yang pertama bagi Brunei dan yang mula-mula menggasaskan nama Brunei yang berasal dari perkataan Baru nah. Menikah dengan adik Ong Sum Ping. Ahmad wafat pada 1425 dan digantikan oleh menantunya Sultan Syarif Ali.[1] Jabatan politik Didahului oleh:Abdul Majid Hassan Sultan Brunei1408-1425 Diteruskan oleh:Syarif Ali Catatan kaki ^ ht...

 

Distrik Jianghan

Jianghan 江汉区DistrikTaman ZhongshanJianghanLokasinya di HubeiKoordinat: 30°36′10″N 114°15′51″E / 30.6029°N 114.2642°E / 30.6029; 114.2642Koordinat: 30°36′10″N 114°15′51″E / 30.6029°N 114.2642°E / 30.6029; 114.2642[1]NegaraRepublik Rakyat TiongkokProvinsiHubeiKota subprovinsiWuhanLuas[2] • Total33,43 km2 (1,291 sq mi)Populasi (2010)[3] • Total683.492&...

Peterborough United F.C.

Peterborough UnitedNama lengkapPeterborough United Football ClubJulukanThe PoshBerdiri1934StadionLondon RoadPeterborough(Kapasitas: 14,640)KetuaDarragh MacAnthonyManajerDarren FergusonLigaLiga Satu Inggris2022–23ke-6, Liga Satu Inggris Kostum kandang Kostum tandang Musim ini Peterborough United Football Club adalah klub sepak bola profesional asal Inggris yang berbasis di Peterborough. Peterborough United didirikan pada tahun 1934 dan bermain di Liga Midland lama, yang mereka menangi enam k...

 

arang

Arang kering. Binchōtan Ogatan Arang adalah residu hitam berisi karbon tidak murni yang dihasilkan dengan menghilangkan kandungan air dan komponen volatil dari hewan atau tumbuhan. Arang umumnya didapatkan dengan memanaskan kayu, gula, tulang, dan benda lain. Arang yang hitam, ringan, mudah hancur, dan meyerupai batu bara ini terdiri dari 85% sampai 98% karbon, sisanya adalah abu atau benda kimia lainnya. Jenis-Jenis Arang 1. Arang kayu Arang kayu adalah arang yang terbuat dari bahan dasar k...

 

KIRO (AM)

Radio station in Seattle, WashingtonKIROSeattle, WashingtonBroadcast areaSeattle-Tacoma-Puget Sound regionFrequency710 kHzBrandingSeattle SportsProgrammingFormatSportsAffiliationsESPN RadioSeattle Mariners Radio NetworkSeattle SeahawksWashington State Cougars (football and men's basketball)OwnershipOwnerBonneville International(Bonneville International Corporation)Sister stationsKTTH, KIRO-FMHistoryFirst air dateApril 27, 1927; 96 years ago (1927-04-27) (as KPCB at 650)Form...

خوجاوند

خوجاوند (بالأذرية: Xocavənd)‏    تقسيم إداري البلد أذربيجان  [1] عاصمة لـ مقاطعة خوجاوند (1991–)  التقسيم الأعلى مقاطعة خوجاوند (1991–)  خصائص جغرافية إحداثيات 39°47′43″N 47°06′47″E / 39.79527778°N 47.11305556°E / 39.79527778; 47.11305556   الارتفاع 390 متر  السكان التعداد السك...

 

Синелобый амазон

Синелобый амазон Научная классификация Домен:ЭукариотыЦарство:ЖивотныеПодцарство:ЭуметазоиБез ранга:Двусторонне-симметричныеБез ранга:ВторичноротыеТип:ХордовыеПодтип:ПозвоночныеИнфратип:ЧелюстноротыеНадкласс:ЧетвероногиеКлада:АмниотыКлада:ЗавропсидыКласс:Пт�...

 

Happy Birthday to You

Birthday song This article is about the song. For the book, see Happy Birthday to You! Happy Birthday (song) redirects here. For other songs by that name, see Happy Birthday. Happy Birthday to YouCandles spelling happy birthday, one of many types of birthday cake decorations that accompany this songSongPublished1893Songwriter(s)Patty HillMildred J. Hill (disputed) Happy Birthday to You song melody Happy Birthday to You, or simply Happy Birthday, is a song traditionally sung to celebrate a per...

Mark Hammerton Travel

Travel agency in the United Kingdom. This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages) This article relies excessively on references to primary sources. Please improve this article by adding secondary or tertiary sources. Find sources: Mark Hammerton Travel – news · newspapers · books · scholar · JSTOR (July 2007) (Learn how and when to remove this m...

 

Legion of French Volunteers Against Bolshevism

French collaborationist military unit during WWII Not to be confused with the French Legion of Combatants (Légion Française des Combattants). Legion of French Volunteers Against BolshevismSleeve badge worn by members of the LVF, incorporating the French tricolor.Active1941–1944Allegiance Nazi GermanyBranch WehrmachtSize2,300 troops (maximum)[1]5,800 troops (total, 1941–44)[2]Engagements Eastern Front (World War II) Battle of Moscow Anti-Partisan operations in Byelo...

 

New Greek TV

American Greek-language television channel Television channel New Greek TVCountryUSABroadcast areaNew York metropolitan area, CanadaHeadquartersAstoria, New YorkProgrammingLanguage(s)GreekEnglishPicture format4:3 (SDTV)OwnershipOwnerNew Greek Television USAHistoryLaunchedDecember 1987Former namesNational Greek TV (1987-2012)LinksWebsiteNew Greek TV New Greek TV (NGTV) is an American Greek language television channel broadcasting from studios in Astoria, New York. It launched in December 1987 ...

Philippe de Vitry

French composer, poet and music theorist (1291–1361) de Vitry redirects here. For other uses, see Vitry. Manuscript of Vitry's Aman novi/Heu Fortuna/Heu me, tristis est anima mea from F-Pnm Français 146, a version of the Roman de Fauvel Part of a series onMedieval music Overview Composers  / Instruments / Theory (Theorists) Movements and schools Saint Gall Saint Martial Goliard Ars antiqua Notre-Dame school Troubadour Trouvère Minnesang Ars nova Trecento Ars subtilior Ma...

 

ATP synthase

Enzyme ATP SynthaseMolecular model of ATP synthase determined by X-ray crystallography. Stator is not shown here.IdentifiersEC no.7.1.2.2CAS no.9000-83-3 DatabasesIntEnzIntEnz viewBRENDABRENDA entryExPASyNiceZyme viewKEGGKEGG entryMetaCycmetabolic pathwayPRIAMprofilePDB structuresRCSB PDB PDBe PDBsumGene OntologyAmiGO / QuickGOSearchPMCarticlesPubMedarticlesNCBIproteins ATP synthase is an enzyme that catalyzes the formation of the energy storage molecule adenosine triphosphate (ATP) using ade...

 

Intel 8255

Programmable Peripheral Interface chip Intel D8255 Pinout of i8255 The Intel 8255 (or i8255) Programmable Peripheral Interface (PPI) chip was developed and manufactured by Intel in the first half of the 1970s for the Intel 8080 microprocessor. The 8255 provides 24 parallel input/output lines with a variety of programmable operating modes. The 8255 is a member of the MCS-85 family of chips, designed by Intel for use with their 8085 and 8086 microprocessors and their descendants.[1] It ...

الجمعية الجغرافية السعودية

الجمعية الجغرافية السعودية شعار الجمعية معلومات عامة نوع المبنى جمعية علمية تعنى بدراسات علم الجغرافيا القرية أو المدينة الرياض الدولة السعودية سنة التأسيس 1971م الموقع الإلكتروني حساب الجمعية على تويتر تعديل مصدري - تعديل   الجمعية الجغرافية السعودية. جمعية علمية - حكو...

 

Hobart International 2017 - Doppio

Hobart International 2017DoppioSport Tennis Vincitori Ioana Raluca Olaru Ol'ha Savčuk Finalisti Gabriela Dabrowski Yang Zhaoxuan Punteggio0–6, 6–4, [10–5] Tornei Singolare Singolare (q)   Doppio Doppio 2016 2018 Voce principale: Hobart International 2017. Han Xinyun e Christina McHale erano le detentrici del titolo ma hanno deciso di non prendere parte alla competizione. In finale Ioana Raluca Olaru e Ol'ha Savčuk hanno sconfitto Gabriela Dabrowski e Yang Zhaoxuan con il punteggi...

 

Cottonvale, Queensland

Suburb of Southern Downs Region, Queensland, AustraliaCottonvaleQueenslandCommunity Hall, 2009CottonvaleCoordinates28°31′07″S 151°56′21″E / 28.5186°S 151.9391°E / -28.5186; 151.9391 (Cottonvale (centre of locality))Population153 (2021 census)[1] • Density13.91/km2 (36.02/sq mi)Postcode(s)4375Area11.0 km2 (4.2 sq mi)Time zoneAEST (UTC+10:00)Location 16.3 km (10 mi) N of Stanthorpe 45.0 km (28...

Hawthorne–El Nido Line

Pacific Electric Railway line This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.Find sources: Hawthorne–El Nido Line – news · newspapers · books · scholar · JSTOR (August 2021) (Learn how and when to remove this message) Hawthorne–El NidoOverviewTerminiHawthorneEl NidoServiceSystemPacific ElectricOperator(s)Pacific Elec...

 

جاند رات

جزء من سلسلة مقالات حولالثقافة الإسلامية العمارة الإسلاميّة العربية الأذريّة الهندوإسلامية مغاربية مغوليّة عثمانية باكستانيّة فارسية سلجوقية الفن الفن الإسلامي التخطيط المُصغرات البُسط والسجاد الرقص السَّماع الرقص الصوفي الملابس العباءة العقال البوبو البرقع الچادر �...