Adrenoleukodystrophy
Adrenoleukodystrophy (often shortened to ALD) is an inherited condition that mainly affects the brain, spinal cord, adrenal glands, and sometimes the testes. It is caused by a change (mutation) in a ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Malignant Adrenal Gland Neoplasm
A malignant adrenal gland neoplasm is a cancer that starts in one of the two small glands that sit on top of the kidneys. Each adrenal gland has two parts. The cortex makes steroid hormones (like ...
Autosomal Dominant Intellectual Disability (AD-ID)
Autosomal Dominant Intellectual Disability (ADID) is a group of genetic conditions where a single changed gene from one parent (or a new change in the child) is enough to cause learning and thinking ...
ADNP-related Multiple Congenital Anomalies
ADNP-related multiple congenital anomalies is a rare genetic condition that begins before birth. It happens when one copy of the ADNP gene does not work as it should. The ADNP gene helps control how ...
Dercum’s Disease
Dercum’s disease is a rare disorder where painful lumps of fat (lipomas and angiolipomas) form in the layer of fat under the skin. The pain can be constant or come and go, and it may worsen with ...
Adipose Tissue Rheumatism
Adipose tissue rheumatism is an old name for a rare pain condition now most often called adiposis dolorosa or Dercum’s disease. In this condition, the fat under the skin becomes painful. Some people ...
Adiposalgia
Adiposalgia means pain that comes from fatty (adipose) tissue. The pain can be burning, aching, sore, or very tender when pressed. It may come from scattered painful fat nodules (often called painful ...
Adiposis Dolorosa
Adiposis dolorosa, also called Dercum’s disease, is a rare condition in which soft, fatty lumps (lipomas or angiolipomas) form under the skin and are painful. The pain can be burning, aching, or ...
Adenylosuccinate Lyase (ADSL) Deficiency
Adenylosuccinate lyase deficiency is a very rare, inherited metabolic brain disorder. It happens when changes (mutations) in the ADSL gene reduce the work of an enzyme that is needed to make and ...
Adenosine Triphosphatase (ATPase) Deficiency
Adenosine triphosphatase (ATPase) deficiency is a group of rare disorders in which one of the body’s ATP-driven pumps or transporters does not work well. ATPases use the cell’s energy coin (ATP) to ...
Myoadenylate Deaminase Deficiency (MADD)
Myoadenylate deaminase deficiency is a muscle energy problem. In healthy muscle, an enzyme called myoadenylate deaminase (also named AMP deaminase 1, made by the AMPD1 gene) helps recycle energy ...
Adenosine Monophosphate Deaminase Deficiency
Adenosine monophosphate deaminase deficiency (often shortened to AMPD deficiency) is a muscle energy-processing problem. In healthy muscle, an enzyme called AMP deaminase (mostly the AMPD1 form) ...
Hypermethioninemia Encephalopathy due to Adenosine Kinase (ADK) Deficiency
Adenosine kinase (ADK) deficiency is a rare, inherited metabolic disease. A tiny change in both copies of the ADK gene makes the enzyme adenosine kinase work badly or not work. When this enzyme is ...
Hypermethioninemia due to Adenosine Kinase (ADK) Deficiency
Adenosine kinase deficiency is a very rare, inherited metabolic disorder. The ADK enzyme normally turns adenosine into AMP. When ADK is weak or missing, adenosine builds up. High adenosine pushes the ...
Autosomal Recessive Intellectual Disability (ARID)
Autosomal recessive intellectual disability (ARID) is a group of conditions where a child has global learning and thinking problems because of changes in both copies of a gene. “Autosomal” means the ...
ADK Hypermethioninemia
ADK hypermethioninemia is a very rare genetic metabolic disorder. It happens when the adenosine kinase (ADK) enzyme does not work well because of changes (mutations) in the ADK gene that you inherit ...
Adenosine Kinase Deficiency (ADK Deficiency)
Adenosine kinase deficiency is a very rare, inherited metabolic disease. The body normally uses an enzyme called adenosine kinase (ADK) to change adenosine into AMP so cells can keep adenosine at ...
2,8-Dihydroxyadeninuria (APRT Deficiency)
2,8-dihydroxyadeninuria is a rare, inherited problem of purine recycling. Your body normally reuses adenine (a building block of DNA) using an enzyme called APRT (adenine phosphoribosyltransferase). ...
2,8-Dihydroxyadenine (2,8-DHA) Urolithiasis
2,8-dihydroxyadenine (DHA) urolithiasis is a rare form of kidney stone disease. It happens when the body cannot recycle the purine base adenine in the normal “salvage” pathway. The missing step is ...
Adenine Phosphoribosyltransferase (APRT) Deficiency
Adenine phosphoribosyltransferase (APRT) deficiency is a rare, inherited disorder of purine recycling (the “salvage pathway”). In healthy cells, the APRT enzyme converts adenine into adenosine ...
