• retinitis
  • We mapped the cord1 locus to a region of canine chromosome CFA15 that is syntenic with a region of human chromosome 14 (HSA14q11.2) containing the retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1) gene. (biomedsearch.com)
  • syndrome
  • Diseases associated with NBAS include Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly and Infantile Liver Failure Syndrome 2 . (genecards.org)
  • Alstrom Syndrome (OMIM 203800): A Case Report and Literature Review" by Tisha Joy, Henian Cao et al. (uwo.ca)
  • The likelihood of two carrier parents both passing the gene and therefore having a child affected by the syndrome is 25% with each pregnancy. (wikipedia.org)
  • This means both parents have to pass a copy of the ALMS1 gene in order for their child to have the syndrome even though the parents may not show signs or symptoms of the condition. (wikipedia.org)
  • cilia
  • The AHI1 gene encodes the AHI1 protein, or jouberin, which has been predicted to have a role in cilia-associated trafficking mechanisms (Louie et al. (preventiongenetics.com)
  • citation needed] Since abnormalities of cilia are known to be related to a wide range of disease symptoms including those commonly seen in BBS patients, it is now widely accepted that mutated BBS genes affect normal cilia function, which, in turns, causes BBS. (wikipedia.org)
  • In addition to this sensory role mediating specific signaling cues, cilia play "a secretory role in which a soluble protein is released to have an effect downstream of the fluid flow" in epithelial cells, and can of course mediate fluid flow directly in the case of motile cilia. (wikipedia.org)
  • kidneys
  • Renal hypoplasia - Decreased size of one or both kidneys by more than two standard deviations compared to the mean size by age. (clinicaladvisor.com)
  • involvement
  • alpha chain disease heavy chain disease characterized by plasma cell infiltration of the lamina propria of the small intestine resulting in malabsorption with diarrhea, abdominal pain, and weight loss, possibly accompanied by pulmonary involvement. (thefreedictionary.com)
  • high-arched palate Cardiovascular anomalies Hepatic involvement Anosmia Auditory deficiencies Hirschsprung disease The detailed biochemical mechanism that leads to BBS is still unclear. (wikipedia.org)
  • Respiratory
  • Canine distemper is an often fatal infectious disease that mainly has respiratory and neurologic signs. (wikipedia.org)
  • Canine influenza is a newly emerging infectious respiratory disease. (wikipedia.org)
  • Canine minute virus is an infectious disease that can cause respiratory and gastrointestinal signs in young puppies. (wikipedia.org)
  • Kennel cough is an infectious respiratory disease which can be caused by one of several viruses or by Bordetella bronchiseptica. (wikipedia.org)
  • Prenatal
  • By using multiple polymerase reaction (mPCR) and haploid analysis of 11 short tandem repeats (STRs) in dystrophin gene locus to identify female carriers in deletional DMD/BMD (Duchenne/Becker Muscular Dystrophy) families, valuable information can be gathered for prenatal diagnosis. (biomedsearch.com)
  • chromosome
  • Myotonic dystrophy type 1 (DM1) is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK (myotonic dystrophy protein kinase) on chromosome 19q13.3. (biomedsearch.com)
  • Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the polymorphic macrosatellite repeat D4Z4 in the subtelomere of chromosome 4q. (biomedsearch.com)
  • Facioscapulohumeral muscular dystrophy is one of the most prevalent muscular dystrophies in the world, resulting from the deletion of tandem repeats on chromosome 4q35. (biomedsearch.com)
  • The gene is located on Chromosome 2, at position 2p13. (wikipedia.org)
  • include
  • Additional variable features include retinal dystrophy and renal disease. (nih.gov)
  • Some of the symptoms include: Heart failure (Dilated cardiomyopathy) in over 60% of cases, usually within the first few weeks after birth, but sometimes the onset is in adolescence or adulthood. (wikipedia.org)
  • Disseminated disease occurs when the fungus has spread outside of the lungs and may include clinical signs such as lameness, pain, seizures, anterior uveitis, and localized swelling. (wikipedia.org)
  • kidney
  • Congenital anomalies of the kidney and urinary tract (CAKUT) occur in 1 in 500 births, account for the most cases of pediatric end-stage kidney disease (ESKD), and predispose an individual to hypertension and cardiovascular disease throughout life. (clinicaladvisor.com)
  • Understanding of the causes of CAKUT and the mechanisms underlying disease progression towards chronic kidney disease (CKD) and ESKD is essential for prediction of prognosis. (clinicaladvisor.com)
  • retina
  • This is also the case in the retina, where laminins are present in many different compartments-namely, Bruch's membrane, the interphotoreceptor matrix, the external limiting membrane (ELM), the outer plexiform layer (OPL), inner plexiform layer (IPL), and inner limiting membrane (ILM). (arvojournals.org)
  • hypertension
  • Current nephroprotective treatment involves surgical intervention, management of hypertension, episodes of urinary tract infection and administration of supplements for renal support. (clinicaladvisor.com)
  • mild
  • Canine coronavirus is a gastrointestinal disease that is usually asymptomatic or with mild clinical signs. (wikipedia.org)