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Search Term: X-linked Ectodermal Dysplasia
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Disease Name
X-linked Ectodermal Dysplasia
Disease Name 2
Anhidrotic ectodermal dysplasia, EDA-related
OMIA
543
Gene Name
EDA
Mutation
c.910-1G>A
OMIM
305100
Disease Code
XED
Test Type
Genetic Disease/Disorder
Details
X-linked Ectodermal Dysplasia Symptoms include: symmetrical hairlessness on the forehead and over the pelvic area, infection behind closed eye lids in neonates, large number of missing teeth, canine teeth are thinner than normal and pointed outward, remaining teeth are cone-shaped, also reduced or absent sweat glands and tear production, frequent nose and eye discharge is common as well as damage to corneas. Age of onset from birth, with problems progressing with age and development. Dogs are more susceptible to pulmonary infectious disease than normal dogs.
Details 2
Affected animals are born with symmetrical hairlessness on the forehead and over the dorsal pelvic area. There is often a history of ophthalmia neonatorum (infection behind closed eye lids in neonates). Affected animals have absent or abnormal secondary hairs (Casal et al., 2005, Mauldin et al., 2009). A large number of teeth are missing. Premolars are rarely present and canines, when present, are thinner than normal and pointed outward. Teeth that are present are conically shaped. Most notably molars and incisors, when present, are misshapen and small (Lewis et al., 2010). Signs also include absent sweat glands, decreased tear production, decreased mucociliary clearance in the respiratory tract and symmetrical hypotrichosis. Affected dogs are more susceptible to pulmonary infectious disease than normal dogs. Chronic nasal and ocular discharge are common, as are corneal ulcerations (Casal et al., 2005, Casal et al., 2007, Mauldin et al., 2009). (From OMIA)
Published
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.
Body/System/Process
Skin
OMIA Url
Inheritance
XR
Gene Name Text
Ectodysplasin A
GTPs
Plzen
CZ
CZ
Genomia s.r.o
HGTD Leadership Sponsor In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Participation Pending
Spokane, Washington
US
US
Paw Print Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-Participant Other Recognized Accreditation Subsidiary Company
Davis, California
US
US
Veterinary Genetics Laboratory
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-Participant Other Recognized Accreditation
Wageningen
NL
NL
VHL Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Out Sourced Testing Supporter
Naas, Co. Kildare
IE
IE
Weatherbys Scientific
In House Testing ISO Accredited/LAB ISO Accredited/tests Non-Participant Other Recognized Accreditation Out Sourced Testing Participation Pending Supporter
Zagreb
HR
HR
AnimaLabs
Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Participation Pending Supporter-
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