Disease Information for Albinism

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Clinical Manifestations
Signs & Symptoms
Depigmented patches, skin
Hair lacks pigment/congenital/sign
Hypopigmentation
White skin discoloration
Nystagmus
Nystagmus, pendular
Anosmia/Loss of sense of smell
Decreased sense of smell
Hemeralopia (inability to See in bright light)
Narrow pupil/unilateral
Photophobia/Light sensitive
Vision Loss
True Vertigo Sign Confirmed
Disease Progression
Course/Benign course/disorder
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Ethnic or Racial Factors
Amish population
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Abnormal Lab Findings - Increased
Tyrosine (Lab)
URINE Eosinophiles
Associated Diseases & Rule outs
Rule Outs
Vitiligo
Associated Disease & Complications
Albinism
Congenital Nystagmus
Deafness
Deafness, congenital
Refractive problems/eye
Strabismus
Strabismus, convergent
Visual acuity loss
Vitiligo
Disease Mechanism & Classification
Class
CLASS/Benign/Constitutional/essential disorder
CLASS/Pediatric disorders (ex)
CLASS/Dermatologic/Subcutaneous (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Albinism disorders (ex).
Synonyms
Synonym
6 A24 A26 ALBINISM, albinism, Albinism (disorder), Albinismus, Albino, Synonym/Amish yellow albinism variant, Synonym/Oculocutaneous albinism
Treatment
Other Treatments
TX/Genetic counselling
Definition

General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.

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External Links Related to Albinism
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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