TPPII-Related Immunodeficiency
TPPII-related immunodeficiency is a rare, inherited immune system disorder caused by harmful changes (pathogenic variants) in a gene called TPP2, which makes an enzyme named tripeptidyl-peptidase II ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Evans Syndrome Associated with Primary Immunodeficiency
Evans syndrome (ES) means a person has two or more immune-mediated low blood counts at the same time or one after the other—most often autoimmune hemolytic anemia (AIHA) and immune thrombocytopenia ...
Autoimmune Hemolytic Anemia (AIHA)
Autoimmune hemolytic anemia (AIHA) is a blood disorder where your immune system mistakenly makes antibodies that stick to your own red blood cells. These antibodies mark red cells for destruction in ...
Chronic Mucocutaneous Candidiasis (CMC), Autosomal Dominant IMD31C
Chronic mucocutaneous candidiasis (CMC) is a long-lasting tendency to get repeated or persistent Candida (yeast) infections of the mouth, throat, esophagus, skin, and nails. In most people with the ...
Immune-Mediated Protracted Diarrhea of Infancy
Immune-mediated protracted diarrhea of infancy means a baby has diarrhea that lasts for more than two weeks because the immune system is attacking or overreacting inside the gut. The stools are ...
Autoimmune Encephalitis
Autoimmune encephalitis is brain inflammation caused by the body’s own immune system attacking healthy brain cells by mistake. “Autoimmune” means your immune system is reacting against your own ...
Gardner–Diamond Syndrome
Gardner–Diamond syndrome is a very rare skin disorder in which painful, red and swollen patches suddenly appear and then turn into deep purple bruises (ecchymoses) over about 24 hours—often without ...
Autism Spectrum Disorder – Epilepsy –Arthrogryposis Syndrome
Autism spectrum disorder – epilepsy – arthrogryposis syndrome is a rare genetic condition. Children are born with tight or stiff joints (arthrogryposis), and later many develop features of autism ...
Auricular Abnormalities–Cleft Lip (with or without Cleft Palate)–Ocular Abnormalities Syndrome
Auricular Abnormalities–Cleft Lip (with or without Cleft Palate)–Ocular Abnormalities Syndrome is a very rare birth condition in which a child has three main groups of findings at the same time: (1) ...
Okamoto Syndrome
Okamoto syndrome is a very rare genetic condition that affects how a child grows and develops. It is usually caused by a change (variant) in a single gene called HNRNPK. This gene helps cells turn ...
Neurodevelopmental Disorder–Craniofacial Dysmorphism–Cardiac Defect–Hip Dysplasia Syndrome
Neurodevelopmental disorder–craniofacial dysmorphism–cardiac defect–hip dysplasia syndrome is a very rare, genetic, multi-system condition. Most babies show signs early in life. Children typically ...
Au–Kline Syndrome (AKS)
Au–Kline syndrome (AKS) is a very rare, genetic condition that affects many body systems. Most people with AKS have weak muscle tone in infancy (hypotonia), delayed development, and learning or ...
Atypical Progeroid Syndrome (APS)
Atypical Progeroid Syndrome (APS) is a very rare genetic condition in which a person shows signs that resemble early aging (progeroid features) but does not fit the classic patterns of better-known ...
Atypical Werner Syndrome (AWS)
Atypical Werner syndrome (AWS) is a group of rare “progeroid” conditions that look like classic Werner syndrome—early graying, thin tight skin, short stature, early cataracts, diabetes, and a higher ...
Atypical Rett Syndrome
Atypical Rett syndrome (sometimes called a “variant” of Rett) is a neurodevelopmental condition in which a child—most often a girl—shows several hallmark Rett features (for example, regression of ...
Atypical Norrie Disease due to Monosomy Xp11.3
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 missing. That missing piece includes the NDP ...
Atypical Chediak–Higashi Syndrome
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, the usual childhood problems such as ...
Attenuated Chédiak-Higashi Syndrome (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. The “attenuated” or “atypical” form is ...
Atrioventricular Defect Blepharophimosis Radial and Anal Defect Syndrome (AVB-RAD)
Atrioventricular defect–blepharophimosis–radial and anal defect syndrome (AVB-RAD) is an extremely rare, inherited condition in which a child is born with a heart defect of the atrioventricular ...
Incomplete Atrioventricular Canal Defect with an Isolated Atrial Component
An “incomplete atrioventricular canal defect with an isolated atrial component means there is a hole low in the wall between the top heart chambers (the atria). Doctors also call this a partial AVSD ...
