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Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive [1] disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).
Chédiak–Higashi syndrome. Chédiak–Higashi syndrome[ 1] ( CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, [ 2] which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy .
The health of dogs is a well studied area in veterinary medicine . Dog health is viewed holistically; it encompasses many different aspects, including disease processes, genetics, and nutritional health, for example. Infectious diseases that affect dogs are important not only from a veterinary standpoint, but also because of the risk to public ...
Usher syndrome is characterized by hearing loss and a gradual visual impairment. The hearing loss is caused by a defective inner ear, whereas the vision loss results from retinitis pigmentosa (RP), a degeneration of the retinal cells. Usually, the rod cells of the retina are affected first, leading to early night blindness ( nyctalopia) and the ...
The most noticeable symptom of stud tail in dogs is a greasy, smelly patch at the top of the tail, near the base. You might also observe: Loss of hair in the affected area. Crusting or scaling ...
Chronic Kidney Disease (CKD) in dogs is a progressive, long-term condition in which the kidneys gradually lose their ability to function effectively. It is a common health concern that can affect ...
Noonan syndrome ( NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [ 1] Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. [ 1]
Nystagmus as seen in a case of ocular albinism. The cause of pathological nystagmus may be congenital, idiopathic, or secondary to a pre-existing neurological disorder.It also may be induced temporarily by disorientation (such as on roller coaster rides or when a person has been spinning in circles) or by some drugs (alcohol, lidocaine, and other central nervous system depressants, inhalant ...
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