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Severe Combined Immunodeficiency Disease (SCID) RAG1 related
Breed: Frisian Water Dog/ Wetterhoun
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Severe Combined Immunodeficiency Disease (SCID) RAG1 related
OMIA
1574
Gene Name
RAG1
Mutation
c.2893G>T
Test Type
Genetic Disease/Disorder
Details
Severe combined immunodeficiency (SCID) is a devastating autoimmune disease. SCID is a rare immune disorder characterized by the inability to fight recurrent systemic or localized infections of the eye, ear or respiratory system. Symptoms include: diarrhea, unsteadiness, blindness, and seizures. Age of onset birth, with death by 12 weeks. In some cases, puppies manage to survive up to 6 months.
Details 2
Severe combined immunodeficiency (SCID) is a devastating autoimmune disease. SCID is a rare immune disorder characterized by the inability to fight recurrent systemic or localized infections of the eye, ear or respiratory system. Symptoms include: diarrhea, unsteadiness, blindness, and seizures. Age of onset birth, with death by 12 weeks. In some cases, puppies manage to survive up to 6 months.
Published
Verfuurden, B., Wempe, F., Reinink, P., van Kooten, PJ., Martens, E., Gerritsen, R., Vos, JH., Rutten, VP., Leegwater, PA. : Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation. Genes Immun 12:310-3, 2011. Pubmed reference: 21293384. DOI: 10.1038/gene.2011.6.
Body/System/Process
Autoimmune
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
T-B-NK+ SCID
Gene Name
RAG1
Mutation
c.2893G>T
Mutation Comment
g.31631772C>A
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Severe Combined Immunodeficiency Disease (Wetterhoun Type)
Gene Name
RAG1
Mutation
c.2893G>T
Nature of test
mutation test
FCI Number
221
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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