X-linked Ectodermal Dysplasia
Breed: German Shepherd Dog/ Double coat
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
X-linked Ectodermal Dysplasia
OMIA
543
Gene Name
EDA
Mutation
c.910-1G>A
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
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
EDA
Mutation
c.910-1G>A
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
EDA
Mutation
c.910-1G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
EDA
Mutation
c.910-1G>A
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
EDA
Mutation
c.910-1G>A
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
EDA
Mutation
c.910-1G>A
Mutation Comment
g.54511433G>A
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
EDA
Mutation
c.910-1G>A
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
EDA
Mutation
c.910-1G>A
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Anhidrotic, Hypohidrotic Ectodermal Dysplasia, XHED, XLED
GTP Disease Synonym
Anhidrotic Ectodermal Dysplasia
Gene Name
EDA
Mutation
c.910-1G>A
Nature of test
mutation test
FCI Number
166
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
EDA
Mutation
c.910-1G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
EDA
Mutation
c.910-1G>A
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Anhidrotic, Hypohidrotic Ectodermal Dysplasia, XHED, XLED
GTP Disease Synonym
Anhidrotic Ectodermal Dysplasia
Gene Name
EDA
Mutation
c.910-1G>A
Nature of test
mutation test
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
EDA
Mutation
c.910-1G>A
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Anhidrotic, Hypohidrotic Ectodermal Dysplasia, XHED, XLED
Gene Name
EDA
Mutation
c.910-1G>A
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
EDA
Mutation
c.910-1G>A
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA