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Congenital Hypothyroidism
Congenital Hypothyroidism
  Discussion

Clinical Comments

Reported signs include growth retardation (dwarfism), epiphyseal dysplasia in the vertebrae and limbs, delayed dental eruption, delayed opening of eyes and ear canals, delayed haircoat maturation (hair/coat abnormalities), thickened subcutis (thickened skin), lethargy, unresponsiveness, failure to suckle. Age of onset is early (less than one week of age) for congentical hypothyroidism. Signs of disease, and disease onset can vary by breed/type. Goiter, extremely low T4, and increased TSH are reported signs in Toy Fox Terriers, Rat Terriers, Tenterfield Terriers, and Spanish Water Dogs. (from OMIA, 2018)

  Genetics
Inheritance
AR
OMIA
000536
OMIA Variant
000050
OMIA URL
https://www.omia.org/OMIA000536/9615/
OMIN
274500
Gene
TPO
Variants
c.1777C>T; p.(R593W); c.39insG; c.367C>T; c.331C>T
Variants Comments
  Testing
Test Types
Genetic-Genomic
Assessments
Specific Genetic Test
Assays
dwn_cnd_
Connections
A Multi-Breed Genome-Wide Association Analysis for Canine Hypothyroidism Identifies a Shared Major Risk Locus on CFA12.
Reference - Journal Article
CNS hypomyelination in Rat Terrier dogs with congenital goiter and a mutation in the thyroid peroxidase gene.
Reference - Unknown
Congenital hypothyroidism with goiter in toy fox terriers
Reference - Journal Article
[Clinical, hematological, biochemical and endocrinological aspects of 32 dogs with hypothyroidism]
Reference - Journal Article
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