Orphan Drugs: In Development

Cushing's syndrome-A hormonal
disorder caused by an abnormally high
circulating level of corticosteroid hormones, normally produced by the adrenal
glands. The pituitary gland controls the
activity of the adrenal gland by the
release of ACTH (adrenocorticotropic
hormone). Overactivity of the pituitary
can lead to overproduction of ACTH,
leading to an excess level of circulating
corticosteroids. Tumors of the pituitary
and various other tumors may also
stimulate ACTH (ectopic production).
Cushing's syndrome causes distinct
physical changes, including a red, round
"moon" face, humped upper back,
impotence, swelling, weakness, fatigue,
and a characteristic purplish striating of
the skin. Mental changes, such as depression or paranoia, also often occur.
cutaneous-Pertaining to the skin.
cyclophosphamide-An anticancer drug.
cystic fibrosis-A genetic disorder of
the exocrine glands (such as sweat glands
or kidneys) that causes abnormal mucous
secretions that obstruct glands and ducts
in various organs.
cystinosis-Cystine, an amino acid, accumulated in internal organs, resulting in
damage and cystinuria (presence of cystine
in urine). Nephropathic cystinosis,
also called Franconi's syndrome, is a rare
kidney disorder, by which nutrients and
chemicals are lost in the urine, causing
stunting of growth and bone disorders.
cystitis, interstitial-Chronic, painful
inflammation of the bladder lining, frequently accompanied by ulcers.
cytomegalovirus (CMV)-A DNA virus
that can cause infection without symptoms or with mild flu-like symptoms.
CMV can also cause blindness (CMV
retinitis).
dermatitis herpetiformis-A chronic
skin disease in which clusters of tiny,
red, intensely itchy blisters occur in a
symmetrical pattern on various parts of
the body. It is believed to be the result
of an allergy to gluten, a constituent of
wheat and other cereals.
dysphagia-Difficulty in swallowing.
dysplasia, bronchopulmonaryAbnormal growth of the cells of the
lungs and air passages associated with
exposure of immature lungs to high
levels of oxygen.
endogenous-Arising from within the
body.
end-stage renal disease (ESRD)-An
advanced, life-threatening condition
caused by chronic renal failure that has
progressed over months or years.
engraftment-Surgically implanted tissue.
epidermolysis bullosa-A rare, inherited
condition in which blisters appear on the
skin after minor damage. It mainly affects
young children and has a wide range of

severity.
epidural-Space upon or over the dura,
a membrane surrounding the brain and
spinal cord.

esophageal varices, bleeding-Dilated,
weakened veins in walls of the lower
part of the esophagus, which can rupture
and cause acute bleeding.
exogenous-Introduced from or produced outside of the body.
Fabry's disease-An inherited metabolic
disorder, becoming clinically apparent in
childhood and adolescence with fever,
pain and small vascular tumors. It progresses to central nervous system disturbances and renal and cardiac failure in
mid-life.
fistulas, cutaneous-An abnormal
passage from an internal organ, such as
the bladder or intestine, to the body's
surface (cutaneous).
Gaucher's disease-Type I, the adult
form of an inherited disease caused by a
lack or deficiency of an enzyme (glucocerebrosidase). Primarily affects the liver,
spleen and bone marrow.
glycosides-A class of drugs used in
heart failure. A conduction disorder is
a dysfunction of the electrical pathways of
the heart. Ectopic ventricular activity
is electrical activity in the ventricle of
the heart arising from tissue other than
the normal conduction pathway. Hyperkalemia is an elevation of potassium
blood levels.
graft vs. host disease-In bone marrow
transplantation, normal bone marrow is
used to replace malignant or defective
marrow. In an allogeneic transplantation,
healthy marrow is taken from a donor;
in an autologous transplantation, the
patient's own healthy marrow is used. In
graft vs. host disease, a complication of
such transplants, immune system cells
attack the transplant recipient's tissues.
granulocyte-A type of phagocytic
white blood cell, which is able to
wander through the body to engulf and
digest harmful organisms and debris.
granulomatous disease, chronic
(CGD)-A congenital defect in the killing
of bacteria by white blood cells, leaving
patients susceptible to severe infections.
Nodular lesions, called granulomas, also
result and interfere with the function of
various organs.
hematopoietic potentiation-Helping
the body to form blood or blood cells.
hemodialysis-One of two methods of
dialysis, which removes waste products
from the body as treatment for kidney
failure. This method uses a "kidney
machine" to clean the blood and a shunt
(passage) to connect an artery to a vein.
heparin-An anticoagulant drug.
hepatic-Related to the liver.
hepatitis-Inflammation of the liver
with accompanying liver cell damage or
death, caused most often by viral infection (e.g., types delta and B), but also
by certain drugs, chemicals or poisons.

Hepatitis may be either acute (of limited
duration) or chronic (continuing).
hepatocellular-Pertaining to the cells
in the liver.

HIV-Human immunodeficiency virus,
the virus that causes AIDS.
hyperammonemia-Elevation of
ammonia in blood, characteristic of many
metabolic diseases and inherited disorders.
Symptoms include vomiting, agitation,
slurred speech, and lethargy leading to
mental retardation. It can be caused by
urea cycle enzymopathy (UCE), a
deficiency of one or more of the enzymes
(carbamylphosphate synthetase, ornithine, transcarbamylase or arginosuccinate synthetase) necessary to convert ammonia to a waste product (urea)
to be eliminated in the urine.
hyperbilirubinemia-A raised blood
level of bilirubin, a waste product formed
from the destruction of red blood cells.
Jaundice becomes apparent if the bilirubin
level rises to twice the normal level.
hypercalcemia-Abnormally high level
of calcium in the blood that can seriously
disrupt cell function, particularly in
muscles and nerves.
hypercholesterolemia (homozygous
familial)-An inherited metabolic disorder resulting in an abnormal amount of
cholesterol in the blood. It can lead to
accelerated atherosclerosis and early
heart attack. Dietary treatment seldom
helps in these cases.
hyperphosphatemia-Excessive levels
of phosphates in the blood can be caused
by chronic kidney insufficiency or acute
kidney failure.
hypertension, pulmonary-High blood
pressure in the arteries supplying the
lungs due to increased resistance to blood
flow through the lungs. In primary
pulmonary hypertension (PPH), the
cause is unknown.
hypocalcemia-Too little calcium in
the blood. One cause is hypoparathyroidism, in which insufficient parathyroid hormone is produced. In severe
cases, it causes cramplike spasms in the
hands, face and feet due to the effect of
low blood calcium on muscle activity.
Pseudohypoparathyroidism is a condition resembling a decrease or lack of
parathyroid hormone. In the pseudo
form, parathyroid hormone levels are
normal, yet the body expresses an inability
to respond to the hormone. The disease
is characterized by hypocalcemia, hyperphosphatemia, and increased neuromuscular excitability that can lead to
seizures or muscle spasms and twitching.
hypocitraturia-Condition characterized
by a decrease of citric acid in the urine
causing a pH imbalance leading to calcium
kidney stones.
hypotension, orthostatic-Low blood
pressure causing dizziness or fainting after
abruptly standing or sitting up. Symptoms
disappear quickly once blood pressure
returns to normal. In some cases, the

cause is unknown (idiopathic).
infertility, anovulatory or oligovulatory-The inability to conceive due to a
woman's failure to ovulate (anovulation)

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