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Diseases » Albinism » Glossary
 

Glossary for Albinism

  • ABCD syndrome: A rare inherited condition characterized by albinism, deafness, a black lock of hair and intestinal abnormalities.
  • Albinism immunodeficiency: A medical condition characterized by the association of immune system problems and albinism.
  • Albinism-deafness of Tietz: Tietz syndrome is a relatively rare condition characterized by deafness and albinism. It should not be confused with the similarly named Tietz's syndrome which involves inflammation of chest cartilage.
  • Cerebelloparenchymal autosomal recessive disorder 3: A rare, recessively inherited disorder characterized mainly by albinism, incoordination, low muscle tone and eye problems.
  • Chediak-Higashi Syndrome: An inherited immune system disorder characterized by reduced pigmentation, recurrent infection and neurological disorders.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Decreased pigmentation: A decrease in the melanocytic composition of the skin.
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Eye symptoms: Symptoms affecting the eye
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hair conditions: Any disorder the affects the hair
  • Hair symptoms: Symptoms affecting the hair
  • Head Conditions: Conditions that affect the head
  • Hermansky-Pudlak Syndrome: A rare disorder characterized by various degrees of albinism, bleeding due to a platelet defect and accumulation of a waxy substance in cells (lysosomal ceroid storage).
  • Hermansky-Pudlak syndrome type 2: A rare disorder characterized by various degrees of albinism, bleeding due to a platelet defect, an accumulation of a waxy substance in cells (lysosomal ceroid storage) and immunodeficiency. HPS type 2 differs from type 1 in that it also involves immunodeficiency due to congenital neutropenia.
  • Hypomelanotic disorder: Lack of pigmentation
  • Hypopigmentation/Deafness of Tietz: Tietz syndrome is a relatively rare condition characterized by deafness and albinism. It should not be confused with the similarly named Tietz's syndrome which involves inflammation of chest cartilage.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Nystagmus: Involuntary jerky eye movements
  • Ocular Albinism type 1: A rare eye disorder characterized primarily by lack of eye pigmentation. Females tend to have few if any symptoms as the condition is X-linked.
  • Ocular albinism: A rare inherited disorder where a person lacks pigments in the eye. Vision problems may be involved.
  • Oculo-osteo-cutaneous syndrome: A rare syndrome characterized mainly by eye, skeletal and skin abnormalities.
  • Oculocutaneous albinism: A group of inherited disorders characterized by varying degrees of lack of pigmentation in the skin, eyes and hair.
  • Oculocutaneous albinism type 1: A rare inherited disorder characterized by complete lack of pigmentation in the skin, eyes and hair. Type 1A involves a complete absence of tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color - type B involves only a partial absence of tyrosinase. It is caused by mutations in the TYR gene.
  • Oculocutaneous albinism, type 2: A rare inherited disorder characterized by reduced pigmentation in the skin, eyes and hair. Type 2 has normal levels of active tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color - the fairness is caused by a different genetic mutation (OCA2 gene).
  • Oculocutaneous albinism, type 3: A rare inherited disorder characterized by slightly reduced pigmentation in the skin, eyes and hair (due to a genetic mutation of the TYRP1 gene). Type 3 is characterized by some pigmentation of the iris despite the complete absence of tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color. Type 3 also has the milder eye problems than the other types.
  • Oculocutaneous albinism, type 4: A rare inherited disorder characterized by reduced pigmentation in the skin, eyes and hair. Type 4 involves a normal levels of tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color. However, albinism is caused by mutation of the MATP gene (membrane associated transporter protein).
  • Paleness: Whitening or pallor of the skin
  • Photophobia: An exaggerated or irrational fear of light.
  • Rufous oculocutaneous albinism: A rare inherited disorder characterized by abnormal pigmentation balance in the skin, eyes and hair (due to a genetic mutation of the MC1R gene). Tyrosinase, which is needed for the production of melanin which gives the skin, hair and eyes their color, is present but but a pigmentation imbalance causes a distinctive reddish coloration to the skin and hair.
  • Skin conditions: Any condition that affects the skin
  • Tietz Albinism-Deafness Syndrome: Tietz syndrome is a relatively rare condition characterized by deafness and albinism. It should not be confused with the similarly named Tietz's syndrome which involves inflammation of chest cartilage.
  • Tietz syndrome: Tietz syndrome is a relatively rare condition characterized by deafness and albinism. It should not be confused with the similarly named Tietz's syndrome which involves inflammation of chest cartilage.
  • Uncombable hair syndrome: A syndrome which is characterised by an abnormality in the structure of hair resulting in it being uncombable

 

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