Hermansky-Pudlak syndrome

Hermansky-Pudlak Syndrome
Frantisek Hermansky and P. Pudlak were Czech internists who described this disorder in two patients in the mid 20th century.

What is Hermansky-Pudlak syndrome?
Hermansky-Pudlak syndrome is characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes.

Hermansky-Pudlak syndrome (HPS) is a form of albinism caused by a single gene. It can occur with a bleeding disorder, as well as with lung and bowel diseases.

Hermansky-Pudlak syndrome. Hermansky-Pudlak syndrome is a rare albinism disorder caused by one of at least seven mutated genes.

Hermansky-Pudlak syndrome-A rare type of albinism, most common in the Puerto Rican community, which can cause pigment changes, lung disease, intestinal disorders, and blood disorders.

Hermansky-Pudlak syndrome (HPS): A genetic disorder characterized by albinism (with lack of pigment in the skin or eye), bruising and prolonged bleeding (due to defective blood platelets), and fibrosis of the lungs.

Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of autosomal recessive disorders characterized by tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding tendency diathesis, ...

Hermansky-Pudlak Syndrome is a rare, hereditary disorder that consists of three characteristics: lack of skin pigmentation (albinism), blood platelet dysfunction with prolonged bleeding, and visual impairment.

Hermansky-Pudlak syndrome (HPS) is a single-gene disorder inherited in an autorecessive manner. It is a form of albinism associated with a bleeding disorder as well as lung and bowel diseases.

Hermansky-Pudlak syndrome
HPS1, HPS3, HPS4, HPS5, HPS6, HPS7/DTNBP1, and HPS8/BLOC1S3
HPS1, HPS3, HPS4, HPS7 ...

Albinism is one symptom of Hermansky-Pudlak Syndrome (HPS). HPS includes Albinism with visual impairment, and a bleeding disorder. Hair colour can vary from very fair to brown and can become darker throughout life.

Hermansky-Pudlak syndrome see Albinism
Herpes Simplex Encephalitis see Encephalitis
Herpes Simplex Infection see Herpes Simplex Virus Infection
Herpes Simplex Virus Infection
Herpes Simplex Virus see Herpes Simplex Virus Infection ...

Hermansky-Pudlak syndrome is a form of albinism that can cause excessive bleeding, lung disease and bowel disease. If a child has albinism, parents should be vigilant and talk to a pediatrician if they note abnormal bleeding or bruising.

See also: Albinism, oculocutaneous; Hermansky-Pudlak syndrome.
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Feel Wiped Out Working Odd Hours? ...

Certain rare types of albinism, such as Hermansky-Pudlak syndrome, can cause other symptoms, including: ...

adhesion (Bernard-Soulier syndrome) Â- aggregation (Glanzmann's thrombasthenia) Â- platelet storage pool deficiency (Hermansky-Pudlak syndrome, Gray platelet syndrome)
Clotting factor ...

See also: Albinism, Bleeding, Symptom, Cancer, Nystagmus