Hereditary hypophosphatemic rickets (HHR) is a group of genetic disorders where the kidneys lose too much phosphate in the urine. Low blood phosphate makes bones soft: in children this causes rickets ...
Familial hypocalcemia is a rare, inherited condition where the body keeps blood calcium too low even when the person eats and absorbs enough calcium. It usually happens because a calcium sensor in ...
Autosomal dominant aplastic anaemia and myelodysplasia describes a family of inherited bone-marrow failure conditions in which a single faulty copy of a gene (inherited in an autosomal dominant ...
Agammaglobulinemia, non-Bruton type (also called autosomal agammaglobulinemia) is a rare, inherited immune system condition where a child is born with a near-absence of mature B-cells, the cells that ...
Behçet-like disease due to A20 haploinsufficiency (HA20) is a rare, inherited immune system problem caused by having only half the normal working amount of a protein called A20, which is made by the ...
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis is a very rare inherited disease in which the immune system is wired incorrectly from birth. Children usually develop ...
Immune thrombocytopenic purpura (ITP) is an autoimmune blood disorder where the immune system mistakenly attacks platelets—the tiny cell fragments that stop bleeding—so the platelet count falls and ...
Idiopathic thrombocytopenia—now more accurately called Immune Thrombocytopenia (ITP)—is an autoimmune bleeding disorder where the body’s own immune system mistakenly attacks and destroys platelets, ...
Caspase-8 Deficiency Syndrome—also called caspase-eight deficiency state (CEDS)—is a very rare, inherited immune-system disorder caused by harmful changes (mutations) in the CASP8 gene. Caspase-8 is ...
Warm autoimmune hemolytic anemia (wAIHA) is a disease where your immune system makes IgG antibodies that attach to your red blood cells (RBCs) at normal body temperature (“warm”). These coated RBCs ...
TRIANGLE disease (the TPPII-related immunodeficiency with autoimmunity and neurodevelopmental delay) is a very rare genetic condition that affects the immune system and brain development. The short ...
Neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease is a condition describes children (and sometimes adults) who learn and grow more slowly than expected because their ...
Autoimmune thrombocytopenia–primary immunodeficiency syndrome means a person has very low platelets because the immune system is attacking their own platelets, and this problem happens together with ...
Atypical hypotonia-cystinuria syndrome is a very rare, inherited condition that combines weak muscle tone from birth (hypotonia) with a kidney transport problem called cystinuria, which causes ...
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 small blood vessels (a pattern called ...
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 vessels. This causes clots in small ...
Hereditary ATTRV30M amyloidosis is a genetic disease in which a change (mutation) in the transthyretin (TTR) gene—most often the Val30Met variant—causes the TTR protein to become unstable, break ...
ATTRV30M amyloidosis is a genetic disease. It happens when a change (variant) in the transthyretin (TTR) gene—specifically the Val30Met (V30M) variant—makes the TTR protein unstable. The unstable ...
ATTRV122I amyloidosis is a genetic disease where a small change in the transthyretin (TTR) gene (valine → isoleucine at position 122; sometimes numbered 142) makes the TTR protein less stable. The ...
Congenital hypotransferrinemia is an ultra-rare inherited condition where the blood has very little or almost no transferrin, the protein that normally carries iron to the body’s tissues. Because ...
