Orphan Drugs: In Development

polycythemia vera-Disorder of the
bone marrow that causes an increased
production of red blood cells.
porphyria-Any of a group of uncommon inherited disorders caused by
accumulation in the body of substances
called porphyrins, which build up
because of deficiencies of various
enzymes in the body. Victims of
porphyria often have a rash or skin
blistering brought on by sunlight and
may have abdominal pain and nervous
system disturbances from certain drugs.
Three of the six types of porphyria are
acute intermittent porphyria,
variegata porphyria, and heredita
coproporphyria.
precocious puberty-Onset of early
puberty. It can be a normal variant or
familial trait, or be caused by serious
diseases, such as hypothalamic lesions,
encephalitis and some tumors. If not
detected early, children may be dwarfed.
prophylaxis-Treatment intended to
preserve health and prevent the spread
of disease.
pulmonary-Pertaining to the lungs.
Raynaud's disease-A disorder of the
blood vessels in which exposure to cold
causes the small arteries supplying the
fingers and toes to contract suddenly,
cutting off blood flow to the digits,
which become pale. When the symptoms
develop with no known cause, it is
called Raynaud's disease. When
symptoms are secondary to some other
condition, the disorder is termed
Raynaud's phenomenon and may have
more serious long-term consequences.
The phenomenon is present in 90% of
patients with systemic sclerosis, a
chronic disorder characterized by diffuse
fibrosis (overgrowth of scar or connective tissue) of the skin and internal organs.
renal-Relates to kidneys.
respiratory distress syndrome (RDS)
(hyaline membrane disease-HMD)Lung disorder of premature infants
characterized by respiratory distress and
cyanosis (lack of oxygen in blood). RDS
is caused by a deficiency of surfactant,
a substance that coats the inner lining of
the lungs and prevents them from
collapsing during exhalation.
respiratory syncytial virus disease
(RSV)-One of the most important

causes of lower respiratory tract disease
in children accounting for over 90% of
cases of bronchiolitis. Symptoms include
wheezing, fever, cough and difficulty
feeding. In severe cases, cyanosis (bluish
discoloration of skin or mucous membranes due to deficient oxygenation of
the blood) can result.
retinitis pigmentosa-Degeneration in
both eyes of the rods and cones of the
retina-the light-sensitive membrane that
lines the inside of the back of the eye on
which images are cast by the cornea and
lens. Usually has a genetic basis. The first
symptom is usually night blindness, progressing to a ring-shaped area of blindness that gradually extends to lessen the
field of vision.
severe combined immunodeficiency
disease (SCID)-Combined deficiency
of white blood cells (lymphocytes and Blymphocytes), leaving a patient virtually
defenseless against all types of infection.
Infants with SCID usually die within two
years.
sickle cell anemia-Inherited blood
disorder in which red cells are abnormal
in shape and contain an abnormal oxygencarrying pigment called hemoglobin S,
resulting in chronic, severe anemia and
the characteristic sickle shape of the red
cell. Caused by mutation of the gene that
codes for hemoglobin.
Sjogren's syndrome-A condition in
which the eyes, mouth and vagina
become excessively dry. It tends to
occur with certain autoimmune disorders,
such as rheumatoid arthritis, but the exact
cause is unknown. Sufferers are mostly
middle-aged, postmenopausal women.
sleeping sickness-Serious infectious
disease spread by tsetse fly bites, which
transmit the protozoan parasite
Trypanosoma brucei. In humans, the
parasites multiply and spread to the
blood, lymph nodes, heart and brain,
and can be fatal. Trypanosoma brucei
gambiense sleeping sickness is a human
disease with human-to-fly-to-human
transmission in which humans serve as
reservoir hosts.
spasticity, intractable-Rigidity of
muscles, causing stiffness and restriction
of movement, which can become resistant
to treatment (intractable).
strabismus-Abnormal deviation of one

eye in relation to the other.
systemic-Affecting the whole body.
thrombocythemia, essential-Characterized by spontaneous bleeding, irregularly shaped platelets and aggregates of
them. Can lead to or accompany other
conditions, including leukemia and polycythemia vera.
thrombocytopenia-A reduction in the
number of platelet cells in the blood,
which causes a tendency to bleed,
especially from the smaller blood vessels.
thrombosis-The formation of a blood
clot within the heart or a blood vessel.
trigeminal neuralgia-A severe
paroxysm of pain affecting one side of
the face, caused by irritation of or
damage to the trigeminal nerve (the fifth
cranial nerve that divides into three main
branches, which are the ophthalmic,
maxillary and mandibular nerves).
Turner's syndrome-Girls born with a
missing X chromosome are characterized
by shortness of stature, absence or very
retarded development of secondary sexual characteristics, absence of menstruation, narrowing of the aorta, eye and
bone abnormalities, some mental retatrdation and infertility.
uremic osteodystrophy-Defect of
bone formation caused by excess urea
(waste product of protein breakdown
and the main nitrogen-containing constituent of urine).
ventricular fibrillation-Rapid, ineffective, uncoordinated contractions cause
the heart to stop pumping blood effectively and can be fatal unless normal
heart beat is restored quickly.
ventricular tachyarrhythmiasAbnormally fast heart beats initiated
from irritable areas of the heart.
Von Willebrand's disease-Inherited,
lifelong bleeding disorder caused by a
defective gene, which leads to deficiency
of von Willebrand factor, without which
the blood cannot coagulate properly.
vulvar dystrophies-Disorders of the
external, visible female genitalia.
Wilson's disease-Inherited disorder in
which copper accumulates in the liver, is
slowly released into other parts of the
body, and can eventually severely
damage the liver and brain.
xerostomia-Abnormal dryness of
mouth.

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