MCID: ALB002
MIFTS: 49

Albinism malady

Genetic diseases, Rare diseases categories

Summaries for Albinism

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44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Albinism is a group of inherited disorders that results in little or no production of the pigment melanin, which determines the color of the skin, hair and eyes. melanin also plays a role in the development of certain optical nerves, so all forms of albinism cause problems with the development and function of the eyes. other symptoms can include light skin or changes in skin color; very white to brown hair; very light blue to brown eye color that may appear red in some light and may change with age; sensitivity to sun exposure; and increased risk of developing skin cancer. albinism is caused by mutations in one of several genes, and most types are inherited in an autosomal recessive manner. although there's no cure, people with the disorder can take steps to improve vision and avoid too much sun exposure. last updated: 4/8/2011

MalaCards: Albinism is related to oculocutaneous albinism and ocular albinism. An important gene associated with Albinism is GPR143 (G protein-coupled receptor 143), and among its related pathways are Basal cell carcinoma and Phenylalanine metabolism. The compounds l-dopa and kojic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Wikipedia:66 Albinism (from Latin albus, \"white\"; see extended etymology, also called achromia, achromasia, or... more...

Aliases & Classifications for Albinism

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66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 23GTR, 46Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

albinism 66 44 21 23 46


Related Diseases for Albinism

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18GeneCards, 19GeneDecks
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Diseases related to Albinism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 158)
idRelated DiseaseScoreTop Affiliating Genes
1oculocutaneous albinism31.6TYRP1, TYR, OCA2, SLC45A2
2ocular albinism31.5TYR, GPR143
3oculocutaneous albinism type 131.2TYR
4oculocutaneous albinism type 231.1OCA2
5oculocutaneous albinism type 430.8SLC45A2
6hermansky-pudlak syndrome30.6TYR, OCA2, HPS4, TYRP1
7melanoma30.5OCA2, SLC45A2, GPR143, TYR, TYRP1
8congenital nystagmus30.4GPR143, OCA2
9amelanotic melanoma30.4TYRP1, TYR
10microphthalmia30.2TYRP1, TYR
11vitiligo30.0TYR, TYRP1
12waardenburg's syndrome29.8TYR, TYRP1
13oculocutaneous albinism type 1b10.6
14oculocutaneous albinism type 310.5
15ocular albinism, x-linked10.5
16albinism deafness syndrome10.4
17microcephaly-albinism-digital anomalies syndrome10.4
18ocular albinism, type i, nettleship-falls type10.4
19retinitis10.4
20albinism ocular late onset sensorineural deafness10.4
21griscelli syndrome type 110.4
22chediak-higashi syndrome10.3
23foveal hypoplasia10.3
24rufous oculocutaneous albinism10.3
25hermansky-pudlak syndrome 110.3
26aland island eye disease10.3
27tietz syndrome10.3
28albinism, oculocutaneous, type v10.3
29griscelli syndrome10.2
30albinism, oculocutaneous, type vi10.2
31neuronitis10.2
32ermine phenotype10.2
33griscelli syndrome type 210.2
34oculocerebral hypopigmentation syndrome type preus10.2
35prader-willi syndrome10.1
36piebaldism10.1
37abcd syndrome10.1
38albinism immunodeficiency10.1
39griscelli syndrome type 310.1
40oculocerebral syndrome with hypopigmentation10.1
41vici syndrome10.1
42waardenburg syndrome/ocular albinism, digenic10.1
43albinism, oculocutaneous, type vii10.1
44minimal pigment oculocutaneous albinism type 110.1
45attenuated chédiak-higashi syndrome10.1
46angelman syndrome10.1
47aniridia10.1
48glaucoma10.1
49schizophrenia10.1
50albinism, minimal pigment type10.1

Graphical network of the top 20 diseases related to Albinism:



Diseases related to albinism

Symptoms for Albinism

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Drugs & Therapeutics for Albinism

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Albinism

Drug clinical trials:

Search ClinicalTrials for Albinism

Search NIH Clinical Center for Albinism

Search CenterWatch for Albinism

Genetic Tests for Albinism

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21GeneTests, 23GTR
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Genetic tests related to Albinism:

id Genetic test Affiliating Genes
1 Albinism Multi-Gene Panels21
2 Albinism23

Anatomical Context for Albinism

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34MalaCards
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MalaCards organs/tissues related to Albinism:

34
Skin, Eye, Testes, Brain, Nk cells, Cortex, Bone, Lung, Liver, Retina

Animal Models for Albinism or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Albinism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7SLC24A5, HPS4, OCA2, TYRP1
2MP:00053828.5TYRP1, OCA2, HPS4, SLC24A5
3MP:00053898.3TYRP1, TYR, OCA2, SLC45A2
4MP:00053768.1SLC45A2, HPS4, OCA2, TYR, TYRP1
5MP:00107717.7TYRP1, TYR, OCA2, HPS4, SLC45A2, SLC24A5
6MP:00011867.5SLC24A5, TYRP1, TYR, GPR143, OCA2, HPS4
7MP:00053917.5TYRP1, TYR, GPR143, OCA2, HPS4, SLC45A2

Publications for Albinism

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53PubMed
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Articles related to Albinism:

(show top 50)    (show all 673)
idTitleAuthorsYear
1
Albinism in barley androgenesis. (24326697)
2013
2
Oculocutaneous albinism and skin cancer risk. (22757611)
2013
3
Skin flora: Differences between people affected by Albinism and those with normally pigmented skin in Northern Tanzania - cross sectional study. (22846672)
2012
4
Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection? (23063908)
2012
5
Syndromic albinism and haemophagocytosis. (19764984)
2010
6
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. (19865097)
2010
7
Evaluation of vision-specific quality-of-life in albinism. (19157938)
2009
8
Albinism: Images in ophthalmology. (21234225)
2009
9
Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. (17960121)
2007
10
Albinism and developmental delay: the need to test for 15q11-q13 deletion. (17903679)
2007
11
New mutations identified in the ocular albinism type 1 gene. (17822861)
2007
12
Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. (17090889)
2006
13
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. (15996218)
2005
14
Albinism (OCA2) in Amerindians. (16369963)
2005
15
New method for detecting misrouted retinofugal fibers in humans with albinism by magnetoencephalography. (15031097)
2004
16
Positive angle kappa: a sign of albinism in patients with congenital nystagmus. (15059699)
2004
17
Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4. (12829739)
2003
18
Amelanotic melanoma in a child with oculocutaneous albinism. (12825234)
2003
19
Place and matching-to-place spatial learning affected by rat inbreeding (Dark-Agouti, Fischer 344) and albinism (Wistar, Sprague-Dawley) but not domestication (wild rat vs. Long-Evans, Fischer-Norway). (12191833)
2002
20
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. (11284711)
2001
21
Albinism and phenotype of barn swallows (Hirundo rustica) from Chernobyl. (11761068)
2001
22
Ocular albinism type 1: more than meets the eye. (11549106)
2001
23
Mutation analysis of the tyrosinase gene in oculocutaneous albinism. (11295837)
2001
24
Albinism and melanocytes. (11584602)
2001
25
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. (10905897)
2000
26
Electron microscopic DOPA reaction test for oculocutaneous albinism. (10929771)
2000
27
Comparison of techniques for detecting visually evoked potential asymmetry in albinism. (11040481)
2000
28
Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. (10768343)
2000
29
Oculocutaneous albinism in the i6 mutant of the medaka fish is associated with a deletion in the tyrosinase gene. (10454293)
1999
30
Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan. (10571953)
1999
31
Unilateral alpha reactivity: an electroencephalographic finding in albinism. (9563581)
1998
32
Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2). (10671067)
1998
33
Diagnosis of oculocutaneous albinism with molecular analysis. (8644824)
1996
34
Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. (7778600)
1995
35
An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. (7887411)
1995
36
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. (7647783)
1995
37
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. (7920637)
1994
38
The molecular genetics of albinism and piebaldism. (8129415)
1994
39
Ophthalmic features of minimal pigment oculocutaneous albinism. (8190479)
1994
40
Do pigmented naevi in albinism provide evidence of tyrosinase positivity? (1476926)
1992
41
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. (1899321)
1991
42
Comparative genetics of albinism. (2126367)
1990
43
Malignant melanoma in oculocutaneous albinism. (2684028)
1989
44
Isolation and purification of ceruloplasmin in oculocutaneous albinism, Menkes' disease, Wilson's disease and pregnant women. (6616879)
1983
45
Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). (7065089)
1982
46
X-linked ocular albinism: relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers. (7296358)
1981
47
Cerebellar ataxia and total albinism: a kindred suggesting pleitotropism or linkage. (4838888)
1974
48
Amish albinism: a distinctive autosomal recessive phenotype. (5516239)
1970
49
TOTAL COLOR BLINDNESS AND ALBINISM. TWO CAUSES OF SUBNORMAL VISUAL ACUITY IN CHILDREN. (14256521)
1965
50
Ocular albinism with changes typical of carriers. (13396158)
1956

Variations for Albinism

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Expression for genes affiliated with Albinism

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Albinism

Search GEO for disease gene expression data for Albinism.

Pathways for genes affiliated with Albinism

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51PathCards, 31KEGG, 39NCBI BioSystems Database
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Pathways related to Albinism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6TYR, TYRP1
2
Show member pathways
phenylalanine utilization39
noradrenaline and adrenaline degradation39
phenylalanine degradation IV39
9.6TYR, TYRP1

Compounds for genes affiliated with Albinism

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30IUPHAR, 25HMDB, 46Novoseek, 3BitterDB, 12DrugBank, 62Tocris Bioscience
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Compounds related to Albinism according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1l-dopa30 2511.0TYR, GPR143
2kojic acid469.8TYR, TYRP1
3Melanin259.8OCA2, TYRP1
4dhica469.8TYR, TYRP1
5arbutin3 4610.8TYRP1, TYR
6dopaquinone46 2510.8TYR, TYRP1
7eumelanin469.7TYRP1, TYR
8dopachrome469.7TYR, TYRP1
9hmba469.6TYR, TYRP1
10copper46 2510.6TYR, TYRP1
11levodopa46 1210.5TYRP1, TYR
12ibmx46 62 3011.3TYR, TYRP1

GO Terms for genes affiliated with Albinism

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17Gene Ontology
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Cellular components related to Albinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanosome membraneGO:0331628.2SLC45A2, OCA2, GPR143, TYR, TYRP1
2melanosomeGO:0424708.1TYRP1, TYR, GPR143, HPS4, SLC24A5
3integral component of membraneGO:0160217.9SLC24A5, SLC45A2, OCA2, GPR143, TYR, TYRP1

Biological processes related to Albinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanosome organizationGO:0324389.5GPR143, TYRP1
2eye pigment biosynthetic processGO:0067269.5OCA2, GPR143, TYR
3response to stimulusGO:0508969.4SLC24A5, SLC45A2
4melanin biosynthetic processGO:0424389.0TYRP1, OCA2, SLC45A2
5visual perceptionGO:0076018.9SLC45A2, GPR143, TYR
6melanocyte differentiationGO:0303188.7HPS4, OCA2, TYRP1, C10orf11

Molecular functions related to Albinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:0055079.5TYR, TYRP1
2protein homodimerization activityGO:0428038.8HPS4, TYR, TYRP1
3protein bindingGO:0055157.6TYR, GPR143, OCA2, HPS4, TBL1X, TYRP1

Products for genes affiliated with Albinism

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Sources for Albinism

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet