Atypical progressive supranuclear palsy (PSP) is a brain disease where certain cells slowly get damaged by an abnormal protein called 4-repeat tau. This damage ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Atypical Norrie disease due to monosomy Xp11.3 is a rare condition that happens when a small piece of the short arm of the X chromosome (region Xp11.3) is ...
Atypical juvenile parkinsonism means parkinsonism that starts in children, teens, or very young adults and does not look like the “typical” adult Parkinson’s ...
Atypical hypotonia-cystinuria syndrome is a very rare, inherited condition that combines weak muscle tone from birth (hypotonia) with a kidney transport ...
Hemolytic-uremic syndrome without diarrhea—most often called atypical HUS (aHUS)—is a rare, serious blood-and-kidney disorder. Tiny clots form in the body’s ...
Atypical hemolytic-uremic syndrome is a rare disease where the body’s complement system (part of the immune system) becomes overactive and attacks tiny blood ...
Hereditary ATTRV30M amyloidosis is a genetic disease in which a change (mutation) in the transthyretin (TTR) gene—most often the Val30Met variant—causes the ...
ATTRV30M amyloidosis is a genetic disease. It happens when a change (variant) in the transthyretin (TTR) gene—specifically the Val30Met (V30M) variant—makes ...
ATTRV122I amyloidosis is a genetic disease where a small change in the transthyretin (TTR) gene (valine → isoleucine at position 122; sometimes numbered 142) ...
Hereditary flat adenoma syndrome (HFAS)” is an older name for a milder form of familial adenomatous polyposis (FAP). Today, most experts call it attenuated ...
Attenuated adenomatous polyposis coli” is the milder form of familial adenomatous polyposis (FAP). It happens when a person is born with a harmful change (a ...
Attenuated familial adenomatous polyposis (AFAP) is an inherited condition that causes a person to grow fewer colon and rectal polyps than the classic form of ...
Atypical Chediak–Higashi syndrome is the milder, later-onset end of a single disease caused by changes (pathogenic variants) in the LYST gene. In atypical CHS, ...
Attenuated Chédiak-Higashi syndrome (CHS) is a rare, inherited immune system and pigment disorder caused by harmful changes (mutations) in a gene called LYST. ...
Folliculitis ulerythematosa reticulata (FUR) is a rare skin condition in the same family as keratosis pilaris atrophicans (KPA). It mainly affects the cheeks. ...
Atrophoderma vermiculata is a rare skin condition that usually begins in childhood. It first shows up as tiny rough bumps centered on hair follicles, most ...
Atrophoderma of Pasini and Pierini (APP) is a rare skin condition where the middle layer of the skin (the dermis) becomes thinner in certain areas, creating ...
Atrophic lichen planus (ALP) is a rare form (variant) of lichen planus—a chronic, immune-mediated disease that can affect skin, mouth, scalp, nails, and ...
Houlston-Ironton-Temple (HIT) syndrome is an extremely rare pattern of birth differences. Babies are born with a serious heart wall problem called an ...
Atrioventricular defect–blepharophimosis–radial and anal defect syndrome (AVB-RAD) is an extremely rare, inherited condition in which a child is born with a ...
