Hereditary Equine Regional Dermal Asthenia (HERDA)

INHALT

Synonym (en)

Cutaneous asthenia

Dermatosparaxis

Ehlers-Danlos syndrome

Hyperelastosis cutis
Deutsch Hereditäre equine regionale dermale Asthenie
Synonym (de)

Dermatosparaxie

Erbliche, regional begrenzte Hautschwäche

Hereditäre dermale Asthenie
Französisch Asthénie dermique héréditaire localisée équine
Gen PPIB (peptidylprolyl isomerase B (cyclophilin B))
Chromosom ECA1

OMIA#

OMIA 000327-9796

http://omia.angis.org.au/OMIA000327/9796/

NCBI gene

http://www.ncbi.nlm.nih.gov/gene/100066834

Mutation

Causative missense mutation (c.115G>A; p.39G>R) in the gene for cyclophilin B (PPIB). (Tryon RC et al 2007)
Erbgang

Autosomal rezessiv
Merkmale / Symptome

Degenerative Erkrankung der Haut (Kollagendefekt): Fragilität und extreme Elastizität der Haut, Störungen der Vernarbung der Wunden. Alter: >1.5 Jahre (ab Beginn Nutzung). Andere kollagenreiche Gewebe (Sehnen, Bänder, grosse Blutgefässe) können auch betroffen sein (Bowser JE et al 2014).

Die Krankheit ist nicht heilbar.

Die leicht überdehnbare und verletzungsanfällige Haut ist das Hauptsymptom des Ehlers-Danlos-Syndroms, heterogene, erblich bedingte Krankheiten des Bindegewebes (S. Ehlers-Danlos-Syndrom beim Mensch). HERDA und das Warmblood Fragile Foal Syndrome gehören zur dieser Gruppe. PPIB-unabhängige Fälle wurden beschrieben (Rüfenacht S et al 2010; Steelman SM et al 2014). Es ist zu erwarten, dass zusätzliche ursächliche Mutationen zukünftig identifiziert werden.
Belastungen

Erblich bedingte tiefgreifende Einschränkung einer Organfunktion (Haut); erhöhte Dehnbarkeit der Haut; erhöhte Verletzungsanfälligkeit (v.a. Sattellage, Rücken, Beine), Hämatome, schlecht heilende Wunden; das Pferd kann nicht mehr genutzt werden (Reitpferd, Fahrpferd): Schäden, die zu Funktionsausfällen führen, die den Allgemeinzustand beeinträchtigen.

Massgebende Kriterien für die Beurteilung der Belastungen sind insbesondere:

Zuchtstrategie und Massnahmen

Eltern

DNA-Untersuchung der ursächlichen Mutation (Tryon RC et al 2007); gezielte Anpaarungen, Anpassung der Zuchtstrategie (Trägertiere sollten in der Zucht nicht eingesetzt werden)

Bei den betroffenen Nachkommen

Diagnose (DNA-Test); betroffene Tiere sollten in der Zucht nicht eingesetzt werden; Euthanasie.
Rasse QH, Subpopulation der Cutting-Pferde, Paint Horse, Appaloosa, verwandte Rassen
Trägerfrequenz (%) QH 3.5% (Badial PR et al 2013 : 5.8%), Elite cutting: 28.3% (Tryon RC, 2005, cit. Lenz 2010)
Gründer Poco Bueno
DNA-Test (Allelen)

JA: (Animal Genetics, BIOFOCUS, CAG, Certagen, GenControl, LABEO, LABOKLIN, PROGENUS, UC DAVIS, VHL)

United States Patent 7,608,400 (Bannasch D et al, 2009)

Bemerkungen

Eine ähnliche Erkrankung kann bei weiteren Rassen (z.B. CH-Warmblut, Englisches Vollblut) beobachtet werden (Rüfenacht S et al, 2010). 

S. auch andere Erbdefekte der Haut: Warmblood Fragile Foal Syndrome, Hereditäre Epidermolysis bullosa junctionalis (JEB1), Hereditäre Epidermolysis bullosa junctionalis (JEB2)).

LITERATURVERZEICHNIS

Bücher

(en) SCOTT DW, MILLER Jr WH. (2010). Congenital and Hereditary Skin Diseases. In Equine Dermatology. 2nd Edition, Elsevier. Chapter 14

Wissenschaftliche Veröffentlichungen

2015

(en) BADIAL P R, CISNEROS‐ÀLVAREZ L E, BRANDÃO CVS, RANZANI JJT, TOMAZ MA, MACHADO VM, BORGES AS. (2015). Ocular dimensions, corneal thickness, and corneal curvature in quarter horses with hereditary equine regional dermal asthenia. Veterinary ophthalmology, 18(5): 385–392.

(en) RASHMIR-RAVEN A, LAVAGNINO M, SEDLAK A, GARDNER K, ARNOCZKY S. (2015). Increased susceptibility of skin from HERDA (Hereditary Equine Regional Dermal Asthenia)-affected horses to bacterial collagenase degradation: a potential contributing factor to the clinical signs of HERDA. Veterinary Dermatology, Online, 16. Sept. 2015

(en) RASHMIR‐RAVEN AM, SPIER SJ. (2015). Hereditary equine regional dermal asthenia (HERDA) in Quarter Horses: A review of clinical signs, genetics and research. Equine Veterinary Education, 27(11): 604-611

2014

(en) BADIAL PR, OLIVEIRA-FILHO JP, PANTOJA JC, MOREIRA JC, CONCEIÇÃO LG, BORGES AS. (2014). Dermatological and morphological findings in quarter horses with hereditary equine regional dermal asthenia. Veterinary Dermatology, 25(6): 547–e96

(en) BOWSER JE, ELDER SH, PASQUALI M, GRADY JG, RASHMIR‐RAVEN AM, WILLS R, SWIDERSKI CE. (2014). Tensile properties in collagen‐rich tissues of Quarter Horses with hereditary equine regional dermal asthenia (HERDA). Equine veterinary journal, 46(2), 216-222.

(en) MACKEY S. (2014). Current genetics of equine cutaneous asthenia (Review of literature). Doctoral dissertation, Faculty Of Veterinary Science Budapest, 34 Seiten

  • HuVetA collection of theses http://huveta.hu/handle/10832/25
  • Abstract <http://huveta.hu/handle/10832/1060>
  • Pdf <http://huveta.hu/bitstream/10832/1060/1/MackeySophiaThesis.pdf>
  • [Stand: 24.09.2015]

(en) STEELMAN SM, JACKSON ND, CONANT E, JURAS R, COTHRAN EG, EDWARDS JF, CHOWDHARY BP. (2014). Ehlers-Danlos Syndrome in a Quarter Horse Gelding: A Case Report of PPIB-Independent Hereditary Equine Regional Dermal Asthenia. Journal of Equine Veterinary Science, 34(4): 565-568.

  • DOI: 10.1016/j.jevs.2013.10.178
  • Journal of Equine Veterinary Science http://www.j-evs.com/home
  • Abstract <http://www.sciencedirect.com/science/article/pii/S0737080613008125>
  • Pdf <http://www.sciencedirect.com/science/article/pii/S0737080613008125/pdfft?md5=a3f8881cb9c4e10aec0b138e3c594d48&pid=1-s2.0-S0737080613008125-main.pdf>
  • [Stand: 25.09.2015]

2013

(en) BADIAL PR, OLIVEIRA-FILHO JP, WINAND NJ, BORGES AS. (2013a). Allele frequency of hereditary equine regional dermal asthenia in American Quarter horses in Brazil determined by quantitative real-time PCR with high resolution melting analysis. The Veterinary Journal, 199(2): 306–307

  • DOI: 10.1016/j.tvjl.2013.11.008
  • The Veterinary Journal http://www.sciencedirect.com/science/journal/10900233
  • Abstract <http://www.sciencedirect.com/science/article/pii/S1090023313005649>
  • Pdf <http://www.sciencedirect.com/science/article/pii/S1090023313005649/pdf?md5=30f50bcd3a6524a650528867cac252ed&pid=1-s2.0-S1090023313005649-main.pdf>
  • [Stand: 22.09.2014]

(en) BADIAL PR, RASHMIR-RAVEN AM, CAGNINI DQ, OLIVEIRA-FILHO JP, COOLEY AJ, CUNHA PHJ, KITCHELL BE, CONCEIÇÃO LG, MOCHAL CA, BORGES AS. (2013b). Marjolin’s Ulcer in Two Horses with Hereditary Equine Regional Dermal Asthenia. Journal of Equine Veterinary Science, 33(7): 515–522

  • DOI: 10.1016/j.jevs.2012.03.004
  • Journal of Equine Veterinary Science http://www.j-evs.com/home
  • Abstract <http://www.j-evs.com/article/S0737-0806%2812%2900101-3/abstract>
  • Pdf <http://www.j-evs.com/article/S0737-0806(12)00101-3/pdf>
  • [Stand: 22.09.2014]

(en) RASHMIR-RAVEN A. (2013). Heritable equine regional dermal asthenia. Veterinary Clinics of North America: Equine Practice, 29(3): 689-702

  • DOI: 10.1016/j.cveq.2013.09.001
  • Veterinary Clinics of North America: Equine Practice http://www.sciencedirect.com/science/journal/07490739
  • Abstract <http://www.sciencedirect.com/science/article/pii/S074907391300059X>
  • Pdf <http://www.sciencedirect.com/science/article/pii/S074907391300059X/pdf?md5=1611896750843d7a461284d7766de6b8&pid=1-s2.0-S074907391300059X-main.pdf>
  • [Stand: 22.09.2014]

en) YOUNG AE, WHITE SD, BANNASCH DL. (2013). Genomics of Skin Disorders. In Chowdhary BE, Equine Genomics. Wiley-Blackwell, pages 155-170

  • ISBN: 978-0-8138-1563-3
  • ISBN: 978-1-118-52212-7 (e-book)
  • Beschreibung, Inhalt, Autoren: WILEY http://eu.wiley.com/WileyCDA/ > Life Sciences > Genetics > Animal Genetics
  • <http://eu.wiley.com/WileyCDA/WileyTitle/productCd-0813815630.html>
  • [Stand: 22.06.2014]

2012

(en) BOUDKO SP, ISHIKAWA Y, LERCH TF, NIX J, CHAPMAN MS, BÄCHINGER HP. (2012). Crystal structures of wild-type and mutated cyclophilin B that causes hyperelastosis cutis in the American quarter horse. BMC Research Notes, 5: 626

  • DOI: 10.1186/1756-0500-5-626
  • BMC Research Notes http://www.biomedcentral.com/bmcresnotes/
  • Abstract <http://www.biomedcentral.com/1756-0500/5/626>
  • Pdf <http://www.biomedcentral.com/content/pdf/1756-0500-5-626.pdf>
  • [Stand: 22.09.2014]

(en) ISHIKAWA Y, VRANKA JA, BOUDKO SP, POKIDYSHEVA E, MIZUNO K, ZIENTEK K, KEENE DR, RASHMIR-RAVEN AM, NAGATA K, WINAND NJ, BÄCHINGER HP. (2012). Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding. The Journal of Biological Chemistry, 287(26): 22253-22265

  • DOI: 10.1074/jbc.M111.333336
  • The Journal of Biological Chemistry http://www.jbc.org/
  • Abstract <http://www.jbc.org/content/287/26/22253.long>
  • Pdf <http://www.jbc.org/content/287/26/22253.full.pdf+html>
  • [Stand: 22.09.2014]

2011

(en, fr) WHITE SD, BOURDEAU P. (2011). Prevalence of the mutation in cyclophilin B (PPIB), a causal candidate gene for HERDA, among Quarter Horses in France. Veterinary Dermatology, 22(2):206-8

  • DOI: 10.1111/j.1365-3164.2010.00941.x
  • Veterinary Dermatology http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1365-3164
  • Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.1365-3164.2010.00941.x/abstract>
  • Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1365-3164.2010.00941.x/pdf>
  • [Stand: 22.09.2014] 

2010

(en) LENZ TR. (2010). Heritable Diseases of the American Quarter Horse and Their Management. Proceedings oft the 8th Annual Mid-Atlantic Nutrition Conferences, 131-134

(en) LITSCHAUER B, PALM F, AURICH C, BUCHNER HHF, HORVATH-UNGERBÖCK C. (2010). Hereditary equine regional dermal asthenia in two Quarter horses in Austria. Wiener Tierärztliche Monatsschrift, 97(1-2): 3-8

(de) RÜFENACHT S, STRAUB R, STEINMANN B, WINAND N, BIDAUT A, STOFFEL MH, GERBER V, WYDER M, MÜLLER E, ROOSJE PJ. (2010). Schweizer Warmblutfohlen mit Symptomen von hereditärer dermaler Asthenie (HERDA) ohne Mutation im Cyclophilin B-Gen (PPIB). Schweizer Archiv für Tierheilkunde, 152(4): 188-192

2009

(en) BANNASCH D, TRYON R, WHITE S. (2009). Methods for detecting a cyclophilin B SNP associated with HERDA, United States Patent 7,608,400

  • The United States Patent and Trademark Office http://www.uspto.gov/
  • United States Patent 7,608,400
  • Pdf <http://www.google.ch/url?sa=t&rct=j&q=&esrc=s&source=web&cd=1&cad=rja&uact=8&ved=0CB8QFjAA&url=http%3A%2F%2Fpatentimages.storage.googleapis.com%2Fpdfs%2FUS7608400.pdf&ei=kLohVNOfEpHg7Qa974DgCw&usg=AFQjCNHsc5kSYwojjfimNzQshTWbc-FOtA>
  • [Stand: 22.09.2014]

(en) GRADY JG, ELDER SH, RYAN PL, SWIDERSKI CE, RASHMIR-RAVEN AM. (2009). Biomechanical and molecular characteristics of hereditary equine regional dermal asthenia in Quarter Horses. Veterinary Dermatology, 20(5-6): 591–599

  • DOI: 10.1111/j.1365-3164.2009.00830.x
  • Veterinary Dermatology http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1365-3164
  • Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.1365-3164.2009.00830.x/abstract>
  • Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1365-3164.2009.00830.x/pdf>
  • [Stand: 22.09.2014]

(en) TRYON RC, PENEDO MC, MCCUE ME, VALBERG SJ, MICKELSON JR, FAMULA TR, WAGNER ML, JACKSON M, HAMILTON MJ, NOOTEBOOM S, BANNASCH DL. (2009). Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses. Journal of the American Veterinary Medical Association, 234(1): 120-125

  • DOI: 10.2460/javma.234.1.120
  • Journal of the American Veterinary Medical Association http://avmajournals.avma.org/loi/javma
  • Abstract <http://avmajournals.avma.org/doi/abs/10.2460/javma.234.1.120>
  • Pdf <http://avmajournals.avma.org/doi/pdf/10.2460/javma.234.1.120>
  • [Stand: 22.09.2014]

2008

(en) RASHMIR-RAVEN A, WINAND N, RYAN PL, ELDER S, COOLEY J, HOPPER R, PASQUALI M, HILL A, GRADY J, TIPTON S, SWIDERSKI C. (2008). Hyperelastosis cutis in the horse. Proceedings of the 10th International Congress of World Equine Veterinary Association, Jan. 28 – Feb. 1, 2008 - Moscow, Russia

  • Pdf IVIS <http://www.ivis.org/proceedings/weva/2008/shortcom2/12.pdf?LA=1>
  • [Stand: 22.09.2014]

2007

(en) TRYON RC, WHITE SD, BANNASCH DL. (2007). Homozygosity mapping approach identifies a missense mutation in equine cyclophilin B (PPIB) associated with HERDA in the American Quarter Horse. Genomics, 90(1): 93-102

  • DOI: 10.1016/j.ygeno.2007.03.009
  • Genomics http://www.sciencedirect.com/science/journal/08887543
  • Abstract <http://www.sciencedirect.com/science/article/pii/S0888754307000651>
  • Pdf <http://www.sciencedirect.com/science/article/pii/S0888754307000651/pdf?md5=24ef18897467277eb44e024575acedd8&pid=1-s2.0-S0888754307000651-main.pdf>
  • [Stand: 22.09.2014]

(en) WHITE SD, AFFOLTER VK, Schultheiss PC, BALL BA, WESSEL MT, KASS P, MOLINARO M, BANNASCH DL. (2007). Clinical and pathological findings in a HERDA-affected foal for 1.5 years of life. Veterinary Dermatology, 18(1): 36–40

  • DOI: 10.1111/j.1365-3164.2007.00562.x
  • Veterinary Dermatology http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1365-3164
  • Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.1365-3164.2007.00562.x/abstract>
  • Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1365-3164.2007.00562.x/pdf>
  • [Stand: 22.09.2014]

2005

(en) BORGES AS, CONCEIÇÃO LG, ALVES AL, FABRIS VE, PESSOA MA. (2005). Hereditary equine regional dermal asthenia in three related Quarter horses in Brazil. Veterinary Dermatology, 16(2): 125-130

  • DOI: 10.1111/j.1365-3164.2005.00431.x
  • Veterinary Dermatology http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1365-3164
  • Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.1365-3164.2005.00431.x/abstract>
  • Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1365-3164.2005.00431.x/pdf>
  • [Stand: 22.09.2014]

(en) SCHOTT II HC, PETERSEN AD. (2005). Cutaneous Markers of Disorders Affecting Young Horses. Clinical Techniques in Equine Practice, 4(4): 314–323

  • DOI: 10.1053/j.ctep.2005.10.006
  • Clinical Techniques in Equine Practice http://www.sciencedirect.com/science/journal/15347516
  • Abstract <http://www.sciencedirect.com/science/article/pii/S1534751605001046>
  • Pdf <http://www.sciencedirect.com/science/article/pii/S1534751605001046/pdf?md5=1d261faa46c90f1e634630762b8cba87&pid=1-s2.0-S1534751605001046-main.pdf>
  • [Stand: 22.09.2014]

(en) TRYON RC, WHITE SD, FAMULA TR, SCHULTHEISS PC, HAMAR DW, BANNASCH DL. (2005). Inheritance of hereditary equine regional dermal asthenia in Quarter Horses. Journal of the American Veterinary Medical Association, 66(3): 437-442

  • DOI: 10.2460/ajvr.2005.66.437
  • Journal of the American Veterinary Medical Association http://avmajournals.avma.org/loi/javma
  • Abstract <http://avmajournals.avma.org/doi/abs/10.2460/ajvr.2005.66.437>
  • Pdf <http://avmajournals.avma.org/doi/pdf/10.2460/ajvr.2005.66.437>
  • [Stand: 22.09.2014]

2004

(en) WHITE SD, AFFOLTER VK, BANNASCH DL, SCHULTHEISS PC, HAMAR DW, CHAPMAN PL, NAYDAN D, SPIER SJ, ROSYCHUK RA, REES C, et al. (2004). Hereditary equine regional dermal asthenia (“hyperelastosis cutis”) in 50 horses: clinical, histological, immunohistological and ultrastructural findings. Veterinary Dermatology, 15(4): 207–217

  • DOI: 10.1111/j.1365-3164.2004.00402.x
  • Veterinary Dermatology http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1365-3164
  • Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.1365-3164.2004.00402.x/abstract>
  • Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1365-3164.2004.00402.x/pdf>
  • [Stand: 22.09.2014]

Webseiten

(fr) AVEF, L'asthénie cutanée régionale équine héréditaire

(de) Deutsche Quarter Horse Association, HERDA

(de) WITTELBUERGER http://www.wittelsbuerger.de/

Labore für DNA-Analytik

(en) Animal Genetics UK, Equine Genetic Disease Testing, Hereditary Equine Regional Dermal Asthenia (HERDA)

(de) BIOFOCUS, HERDA - Hereditary equine regional dermal asthenia

(en) CAG GmbH - Center for Animal Genetics, Hereditary equine regional dermal asthenia (HERDA)

(en) Certagen GmbH - DNA tests genetic diseases, HERDA-Heriditary Equine Regional Dermal Asthenia

(de) GenControl, Erbkrankheiten, HERDA

(fr) LABEO Laboratoire Frank Duncombe, 1 rote du Rozel, 14053 Caen cedex

(de) LABOKLIN BASEL http://www.laboklin.ch/

(fr) LABOKLIN France, HERDA (Hereditary equine regional dermal asthenia) chez le Quarter Horse

(en) Progenus, Genetic Tests, Horse/HERDA

(en) UC Davis Veterinary Genetics Laboratory, HERDA

(en) VHL, Van Haeringen Group, P786 HERDA

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