Shar-Pei Autoinflammatory Disease (SPAID) (Periodic Fever Syndrome) Genes: MTBP, HAS2 Transmission: Autosomal Mutations: MTBP gene: Substitution, MTBP gene; c.2623 G>A, p.(E875K) HAS2 gene: (duplication upstream of HAS2 gene, associated but not causal for SPAID) Medical system: Immunologic, dermal Breeds: References: OMIA link: [1561-9615] Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence…
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Fanconi Syndrome Gene : FAN1 Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only…
Dental Hypomineralization Gene: FAM20C Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only one copy…
Glaucoma, Primary Open Angle (POAG), ADAMTS10 related Gene: ADAMTS10 Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation.…
Hemophilia A Gene: F8 Transmission: X-linked recessive For an X-linked recessive genetic disease, a male must have one copy of the mutation in question to be at risk of developing the disease. All affected males transmit the mutation to all the females of their offspring. A female must have two copies of the mutation…
Hypomyelinisation (HYM) Gene: FNIP2 Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only one…
Ichthyosis (type American Bulldog) Gene: NIPAL4 Transmission: Autosomal, recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have…
Leukoencephalomyelopathy (LEMP) Gene: NAPEPLD Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only one…
Leukocyte Adhesion Deficiency (LAD) Type III Gene: FERMT3 Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals…
