MCID: ALB002
MIFTS: 49

Albinism malady

Genetic diseases, Rare diseases categories
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Summaries for Albinism

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NIH Rare Diseases:42 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 based summary: Albinism is related to ocular albinism and oculocutaneous albinism type 1. 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:65 Albinism (from Latin albus, \"white\"; see extended etymology, also called achromia, achromasia, or... more...

Aliases & Classifications for Albinism

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Albinism, Aliases & Descriptions:

Name: Albinism 65 42 20 22 44


Classifications:

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


Related Diseases for Albinism

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

(show top 50)    (show all 162)
idRelated DiseaseScoreTop Affiliating Genes
1ocular albinism31.8TYR, GPR143
2oculocutaneous albinism type 131.8TYR
3oculocutaneous albinism type 231.6OCA2
4oculocutaneous albinism31.4TYRP1, TYR, OCA2, SLC45A2
5oculocutaneous albinism type 431.2SLC45A2
6congenital nystagmus30.7GPR143, OCA2
7amelanotic melanoma30.6TYRP1, TYR
8hermansky-pudlak syndrome30.5TYR, OCA2, HPS4, TYRP1
9microphthalmia30.3TYRP1, TYR
10vitiligo30.2TYR, TYRP1
11melanoma30.1OCA2, SLC45A2, GPR143, TYR, TYRP1
12waardenburg's syndrome30.0TYR, TYRP1
13oculocutaneous albinism type 1b10.6
14ocular albinism, x-linked10.6
15oculocutaneous albinism type 310.6
16ocular albinism, type i, nettleship-falls type10.4
17retinitis10.4
18albinism deafness syndrome10.4
19albinism ocular late onset sensorineural deafness10.4
20microcephaly-albinism-digital anomalies syndrome10.4
21griscelli syndrome type 110.4
22chediak-higashi syndrome10.4
23aland island eye disease10.3
24rufous oculocutaneous albinism10.3
25hermansky-pudlak syndrome 110.3
26albinism, oculocutaneous, type v10.3
27tietze's syndrome10.3
28griscelli syndrome10.3
29albinism, oculocutaneous, type vi10.3
30abcd syndrome10.2
31neuronitis10.2
32choroiditis10.2
33ermine phenotype10.2
34griscelli syndrome type 210.2
35oculocerebral hypopigmentation syndrome type preus10.2
36prader-willi syndrome10.2
37piebaldism10.2
38albinism immunodeficiency10.2
39griscelli syndrome type 310.2
40oculocerebral syndrome with hypopigmentation10.2
41vici syndrome10.2
42waardenburg syndrome/ocular albinism, digenic10.2
43albinism, oculocutaneous, type vii10.2
44attenuated chédiak-higashi syndrome10.2
45testicular cancer10.1TYR, TYRP1
46schizophrenia10.1
47angelman syndrome10.1
48albinism, minimal pigment type10.1
49cerebelloparenchymal disorder 310.1
50hermansky pudlak syndrome 210.1

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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Drug clinical trials:

Search ClinicalTrials for Albinism

Search NIH Clinical Center for Albinism

Genetic Tests for Albinism

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Genetic tests related to Albinism:

id Genetic test Affiliating Genes
1 Albinism Multi-Gene Panels20
2 Albinism22

Anatomical Context for Albinism

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MalaCards organs/tissues related to Albinism:

32
Skin, Eye, Testes, Brain, Cortex, Nk cells, Bone, Retina, Liver, Lung

Animal Models for Albinism or affiliated genes

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MGI Mouse Phenotypes related to Albinism:

36
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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Articles related to Albinism:

(show top 50)    (show all 698)
idTitleAuthorsYear
1
Authors' response: evaluation of choroidal thickness among patients with oculocutaneous albinism. (24876456)
2014
2
Albinism in barley androgenesis. (24326697)
2013
3
Oculocutaneous albinism and skin cancer risk. (22757611)
2013
4
Skin flora: Differences between people affected by Albinism and those with normally pigmented skin in Northern Tanzania - cross sectional study. (22846672)
2012
5
Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection? (23063908)
2012
6
Syndromic albinism and haemophagocytosis. (19764984)
2010
7
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. (19865097)
2010
8
Evaluation of vision-specific quality-of-life in albinism. (19157938)
2009
9
Albinism: Images in ophthalmology. (21234225)
2009
10
Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. (17960121)
2007
11
Albinism and developmental delay: the need to test for 15q11-q13 deletion. (17903679)
2007
12
New mutations identified in the ocular albinism type 1 gene. (17822861)
2007
13
Albinism in Africa as a public health issue. (16916463)
2006
14
Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. (17090889)
2006
15
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. (15996218)
2005
16
Albinism (OCA2) in Amerindians. (16369963)
2005
17
New method for detecting misrouted retinofugal fibers in humans with albinism by magnetoencephalography. (15031097)
2004
18
Positive angle kappa: a sign of albinism in patients with congenital nystagmus. (15059699)
2004
19
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
20
Amelanotic melanoma in a child with oculocutaneous albinism. (12825234)
2003
21
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
22
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. (11284711)
2001
23
Albinism and phenotype of barn swallows (Hirundo rustica) from Chernobyl. (11761068)
2001
24
Mutation analysis of the tyrosinase gene in oculocutaneous albinism. (11295837)
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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Expression patterns in normal tissues for genes affiliated with Albinism

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Pathways for genes affiliated with Albinism

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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 utilization37
noradrenaline and adrenaline degradation37
phenylalanine degradation IV37
9.6TYR, TYRP1

Compounds for genes affiliated with Albinism

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Compounds related to Albinism according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1l-dopa28 2411.0TYR, GPR143
2kojic acid449.8TYR, TYRP1
3Melanin249.8OCA2, TYRP1
4dhica449.8TYR, TYRP1
5arbutin2 4410.8TYRP1, TYR
6dopaquinone44 2410.8TYR, TYRP1
7eumelanin449.7TYRP1, TYR
8dopachrome449.7TYR, TYRP1
9hmba449.6TYR, TYRP1
10copper44 2410.6TYR, TYRP1
11levodopa44 1110.5TYRP1, TYR
12ibmx44 61 2811.3TYR, TYRP1

GO Terms for genes affiliated with Albinism

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Cellular components related to Albinism according to GeneCards/GeneDecks:

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

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet