The detail information of Anhidrotic ectodermal dysplasia, EDA-related
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: X-linked recessive

Considered a defect: yes

Year key mutation first reported: 2005

Species-specific name: Ectodermal dysplasia, X-linked, X-linked hypohidrotic ectodermal dysplasia

Species-specific symbol: XHED

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB22 Basset Hound up to 38.1 cm 18.1-29.5 kg France
CB30 Belgian Shepherd Dog 61-66 cm (male), 55.9-61 cm (female) 24.9-34 kg (male), 20.4-27.2 kg (female) Belgium
CB35 Bichon Frise 24.1-29.2 cm 5.4-8.2 kg Spain, Belgium
CB78 Cocker Spaniel 36.8-39.4 cm (male), 34.3-36.8 cm (female) 11.3-13.6 kg (male), 9.1-11.3 kg (female)
CB110 German Shepherd Dog 61-66 cm (male), 55.9-61 cm (female) 29.5-40.8 kg (male), 22.7-31.8 kg (female) Germany
CB147 Labrador Retriever 57.2-62.2 cm (male), 54.6-59.7 cm (female) 29.5-36.3 kg (male), 24.9-31.8 kg (female) Canada, United Kingdom (England)
CB160 Miniature Pinscher 25.4-31.8 cm 3.6-4.5 kg Germany
CB285 Miniature Smooth-Haired Dachshund 4.5 kg Germany
CB178 Pekingese 15.2-22.9 cm up to 6.4 kg China
CB256 English Whippet 48.3-55.9 cm (male), 45.7-53.3 cm (female) 11.3-18.1 kg England
Associated Gene
Symbol Description Species Position Other Links
EDA ectodysplasin A Canis lupus familiaris ChrX : 55046702 - 55482183 Homologene, Ensembl, NCBI gene
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2020 Moura,E.,HenriqueWeber,S.,EngraciaFilho,J.R.,Pimpão,C.T.: :
A Hypohidrotic Ectodermal Dysplasia Arising From a New Mutation in a Yorkshire Terrier Dog. Top Companion Anim Med 39:100404, 2020.
Pubmed reference: 32482291 . DOI: 10.1016/j.tcam.2020.100404 .
2019 Moura,E.,Rotenberg,I.S.,Pimpão,C.T.: :
X-Linked Hypohidrotic Ectodermal Dysplasia-General Features and Dental Abnormalities in Affected Dogs Compared With Human Dental Abnormalities. Top Companion Anim Med 35:11-17, 2019.
Pubmed reference: 31122682 . DOI: 10.1053/j.tcam.2019.03.002 .
2019 Vasiliadis,D.,Hewicker-Trautwein,M.,Klotz,D.,Fehr,M.,Ruseva,S.,Arndt,J.,Metzger,J.,Distl,O.,Vasiliadis,D.,Hewicker-Trautwein,M.,Klotz,D.,Fehr,M.,Ruseva,S.,Arndt,J.,Metzger,J.,Distl,O.: :
A <i>de Novo EDA</i>-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia. G3 (Bethesda) 9:95-104, 2019.
Pubmed reference: 30397018 . DOI: 10.1534/g3.118.200814 .
2018 HadjiRasouliha,S.,Bauer,A.,Dettwiler,M.,Welle,M.M.,Leeb,T.,HadjiRasouliha,S.,Bauer,A.,Dettwiler,M.,Welle,M.M.,Leeb,T.: :
A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia. Anim Genet 49:651-654, 2018.
Pubmed reference: 30276836 . DOI: 10.1111/age.12729 .
2016 Waluk,D.,Zur,G.,Kaufmann,R.,Welle,M.M.,Jagannathan,V.,Drögemüller,C.,Müller,E.J.,Leeb,T.,Galichet,A.: :
A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype. G3 (Bethesda) :, 2016.
Pubmed reference: 27449516 . DOI: 10.1534/g3.116.033225 .
2013 Shirokova,V.,Jussila,M.,Hytönen,M.K.,Perälä,N.,Drögemüller,C.,Leeb,T.,Lohi,H.,Sainio,K.,Thesleff,I.,Mikkola,M.L.: :
Expression of Foxi3 is regulated by ectodysplasin in skin appendage placodes. Dev Dyn 242:593-603, 2013.
Pubmed reference: 23441037 . DOI: 10.1002/dvdy.23952 .
2011 Kowalczyk,C.,Dunkel,N.,Willen,L.,Casal,M.L.,Mauldin,E.A.,Gaide,O.,Tardivel,A.,Badic,G.,Etter,A.L.,Favre,M.,Jefferson,D.M.,Headon,D.J.,Demotz,S.,Schneider,P.: :
Molecular and Therapeutic Characterization of Anti-ectodysplasin A Receptor (EDAR) Agonist Monoclonal Antibodies. J Biol Chem 286:30769-79, 2011.
Pubmed reference: 21730053 . DOI: 10.1074/jbc.M111.267997 .
2010 Lewis,JR.,Reiter,AM.,Mauldin,EA.,Casal,ML.: :
Dental abnormalities associated with X-linked hypohidrotic ectodermal dysplasia in dogs. Orthod Craniofac Res 13:40-7, 2010.
Pubmed reference: 20078794 . DOI: 10.1111/j.1601-6343.2009.01473.x .
2009 Mauldin,E.A.,Gaide,O.,Schneider,P.,Casal,M.L.: :
Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X-linked ectodermal dysplasia. Am J Med Genet A :2045-9, 2009.
Pubmed reference: 19533784 . DOI: 10.1002/ajmg.a.32916 .
2007 Casal,ML.,Lewis,JR.,Mauldin,EA.,Tardivel,A.,Ingold,K.,Favre,M.,Paradies,F.,Demotz,S.,Gaide,O.,Schneider,P.: :
Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. Am J Hum Genet 81:1050-6, 2007.
Pubmed reference: 17924345 . DOI: 10.1086/521988 .
2005 Casal,ML.,Mauldin,EA.,Ryan,S.,Scheidt,JL.,Kennedy,J.,Moore,PF.,Felsburg,PJ.: :
Frequent respiratory tract infections in the canine model of X-linked ectodermal dysplasia are not caused by an immune deficiency. Vet Immunol Immunopathol 107:95-104, 2005.
Pubmed reference: 15946744 . DOI: 10.1016/j.vetimm.2005.04.005 .
2005 Casal,ML.,Scheidt,JL.,Rhodes,JL.,Henthorn,PS.,Werner,P.: :
Mutation identification in a canine model of X-linked ectodermal dysplasia. Mamm Genome 16:524-31, 2005.
Pubmed reference: 16151697 . DOI: 10.1007/s00335-004-2463-4 .
2004 Moura,E.,Cirio,SM.: :
Clinical and genetic aspects of X-linked ectodermal dysplasia in the dog -- a review including three new spontaneous cases. Vet Dermatol 15:269-77, 2004.
Pubmed reference: 15500478 . DOI: 10.1111/j.1365-3164.2004.00407.x .
1997 Casal,M.L.,Jezyk,P.F.,Greek,J.M.,Goldschmidt,M.H.,Patterson,D.F.: :
X-linked ectodermal dysplasia in the dog Journal of Heredity 88:513-517, 1997.
Pubmed reference: 9419891 .
1986 Grieshaber,T.L.,Blakemore,J.C.,Yasulski,S.: :
Congenital alopecia in a Bichon Frise Journal of the American Veterinary Medical Association 188:1053-1054, 1986.
Pubmed reference: 3710892 .
1985 Chastain,C.B.,Swayne,D.E.: :
Congenital hypotrichosis in male Basset Hound littermates Journal of the American Veterinary Medical Association 187:845-846, 1985.
Pubmed reference: 4055508 .
1984 Kunkle,G.A.: :
Congenital hypotrichosis in two dogs Journal of the American Veterinary Medical Association 185:84-85, 1984.
Pubmed reference: 6746381 .
1977 Selmanowitz,V.J.,Markofsky,J.,Orentreich,N.: :
Heretibality of an ectodermal defect: a study of affected dogs Journal of Dermatology and Surgical Oncology 3:623-626, 1977.
1970 Selmanowitz,V.J.,Kramer,K.M.,Orentreich,N.,Hyman,A.B.: :
Congenital ectodermal dysplasia in male miniature poodles Archives of Dermatology 101:613-615, 1970.
Pubmed reference: 5462764 .