MCID: ALB002
MIFTS: 50

Albinism malady

Summaries for Albinism

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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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: 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 dopachrome and kojic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related mouse phenotypes are pigmentation and vision/eye.

Wikipedia:63 Albinism (from Latin albus, \"white\"; see extended etymology, also called achromia, achromasia, or... more...

Aliases & Classifications for Albinism

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63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek
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Aliases & Descriptions:

albinism 63 42 20 22 44


Related Diseases for Albinism

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17GeneCards, 18GeneDecks
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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 albinism31.6OCA2, TYR, TYRP1, MC1R, SLC45A2
2ocular albinism31.4TYR, MITF, GPR143
3oculocutaneous albinism type 131.0TYR
4oculocutaneous albinism type 230.9OCA2
5oculocutaneous albinism type 430.7SLC45A2
6hermansky-pudlak syndrome30.6HPS4, HPS1, TYRP1, TYR, BLOC1S3, OCA2
7melanoma30.5OCA2, TYR, TYRP1, MITF, HPS1, MC1R
8chediak-higashi syndrome30.4TYR
9hermansky-pudlak syndrome 130.4HPS1
10amelanotic melanoma30.3TYR, TYRP1
11congenital nystagmus30.2OCA2, GPR143
12piebaldism30.1MITF
13microphthalmia30.0MC1R, MITF, TYRP1, TYR
14vitiligo29.9MITF, TYRP1, TYR
15strabismus29.9GPR143
16skin disease29.9MC1R, MITF, TYR
17platelet storage pool deficiency29.7BLOC1S3, HPS1, HPS4
18waardenburg's syndrome29.7TYR, TYRP1, MITF
19hermansky-pudlak syndrome 829.7BLOC1S3
20ocular albinism, x-linked10.7
21oculocutaneous albinism type 1b10.5
22oculocutaneous albinism type 310.5
23microcephaly-albinism-digital anomalies syndrome10.3
24ocular albinism, type i, nettleship-falls type10.3
25retinitis10.3
26albinism ocular late onset sensorineural deafness10.3
27griscelli syndrome type 110.3
28albinism deafness syndrome10.3
29aland island eye disease10.2
30rufous oculocutaneous albinism10.2
31albinism, oculocutaneous, type v10.2
32tietz syndrome10.2
33albinism, oculocutaneous, type vi10.2
34neuronitis10.2
35ermine phenotype10.2
36griscelli syndrome type 210.2
37oculocerebral hypopigmentation syndrome type preus10.2
38prader-willi syndrome10.1
39abcd syndrome10.1
40oculocerebral syndrome with hypopigmentation10.1
41griscelli syndrome type 310.1
42waardenburg syndrome/ocular albinism, digenic10.1
43albinism, oculocutaneous, type vii10.1
44minimal pigment oculocutaneous albinism type 110.1
45angelman syndrome10.0
46aniridia10.0
47glaucoma10.0
48schizophrenia10.0
49albinism immunodeficiency10.0
50kotzot-richter syndrome10.0

Graphical network of the top 20 diseases related to Albinism:



Diseases related to albinism

Clinical Features for Albinism

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Drugs & Therapeutics for Albinism

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Albinism:

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

Animal Models for Albinism or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Albinism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118611.1SLC45A2, OCA2, BLOC1S3, TYR, TYRP1, MITF
2MP:000539111.0TYR, BLOC1S3, OCA2, CACNA1F, TYRP1, MITF
3MP:001077110.9OCA2, BLOC1S3, TYR, TYRP1, MITF, HPS1
4MP:000537710.9OCA2, BLOC1S3, TYRP1, MITF, HPS1, HPS4
5MP:000301210.7MC1R, HPS1, MITF, TYR, OCA2, CACNA1F
6MP:000538210.7OCA2, BLOC1S3, TYRP1, MITF, HPS1, HPS4
7MP:000537110.4OCA2, BLOC1S3, TYR, MITF, HPS1, MC1R

Publications for Albinism

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50PubMed
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Articles related to Albinism:

(show top 50)    (show all 676)
idTitleAuthorsYear
1
Albinism in barley androgenesis. (24326697)
2013
2
OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. (23050561)
2013
3
Implantation of phakic intraocular lens in 3 patients with oculocutaneous albinism. (24075162)
2013
4
Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report. (23882993)
2013
5
Morphological and molecular characterization of dietary-induced pseudo-albinism during post-embryonic development of Solea senegalensis (Kaup, 1858). (23874785)
2013
6
Albinism in phylogenetically and geographically distinct populations of Astyanax cavefish arises through the same loss-of-function Oca2 allele. (23572122)
2013
7
A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree. (24301936)
2013
8
A nonsense mutation in the tyrosinase gene causes albinism in water buffalo. (22817390)
2012
9
Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family]. (22490798)
2012
10
Making progress in albinism. (21397796)
2011
11
Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population. (17516931)
2007
12
Saccadic instabilities in albinism without nystagmus. (16718432)
2006
13
Comparative mapping of oculocutaneous albinism type II (OCA2), transient receptor potential cation channel, subfamily M member 1 (TRPM1) and two equine microsatellites, ASB08 and 1CA43, among four equid species by fluorescence in situ hybridization. (16717457)
2006
14
Inheritance of a recessive transgene-associated character controlling albinism in transgenic bean (Phaseolus vulgaris L.). (15666217)
2005
15
Misrouting of the optic nerves in albinism: estimation of the extent with visual evoked potentials. (16186379)
2005
16
Comparison of clinical findings in pediatric patients with albinism and different amplitudes of nystagmus. (16102488)
2005
17
Positive angle kappa in albinism. (15226723)
2004
18
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. (14722913)
2004
19
Investigation of albinism genes in congenital esotropia. (14685142)
2003
20
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
21
Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol. (12180081)
2002
22
Subnormal visual acuity syndromes (SVAS): albinism in Swedish 12-13-year-old children. (11678159)
2001
23
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. (11574907)
2001
24
Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis. (11260525)
2001
25
Electron microscopic DOPA reaction test for oculocutaneous albinism. (10929771)
2000
26
Comparison of techniques for detecting visually evoked potential asymmetry in albinism. (11040481)
2000
27
Molecular basis of albinism in the rhesus monkey. (10751629)
2000
28
Hutchinson and Nettleship, Nettlerash and albinism. (10886129)
2000
29
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-saharan africa; robyn kerr, gwynneth stevens, prashiela manga, sarah salm, premila john, tabitha haw, and michele ramsay; (Article was originally published in human mutation 15:166-172, 2000) (10874310)
2000
30
Unilateral alpha reactivity: an electroencephalographic finding in albinism. (9563581)
1998
31
Albinism: an update and review of the literature. (9354055)
1997
32
The clinical spectrum of albinism in humans. (8796918)
1996
33
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. (8634705)
1995
34
Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome. (7636828)
1995
35
A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1). (8069311)
1994
36
VEP in albinism. (7997322)
1994
37
Evoked potential analysis of visual pathways in human albinism. (8115151)
1994
38
The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids. (8198130)
1994
39
X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3. (8288253)
1993
40
Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. (8477259)
1993
41
Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus. (8330450)
1993
42
A dinucleotide deletion (-delta GA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual. (8364542)
1993
43
Cloning and sequence analysis of the tyrosinase gene from a patient with tyrosinase-positive oculocutaneous albinism. (1498098)
1992
44
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. (1900309)
1991
45
Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59. (2120217)
1990
46
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. (1970634)
1990
47
Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). (7065089)
1982
48
X mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness. (1085370)
1976
49
Partial ocular albinism in Mystromys albicaudatus (African white-tailed rat). (5565883)
1971
50
Ocular albinism. Incidence and occupational prognosis. (5952954)
1966

Genetic Variations for Albinism

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Expression for genes affiliated with Albinism

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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29KEGG
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Pathways related to Albinism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.6MC1R, MITF, TYRP1, TYR
2
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10.6TYRP1, TYR

Compounds for genes affiliated with Albinism

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44Novoseek, 11DrugBank, 2BitterDB, 28IUPHAR, 59Tocris Bioscience, 24HMDB
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Compounds related to Albinism according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1dopachrome4410.9MC1R, MITF, TYRP1, TYR
2kojic acid4410.8MITF, TYRP1, TYR
3levodopa44 1111.8MC1R, HPS1, TYRP1, TYR
4eumelanin4410.8TYR, TYRP1, MC1R
5hmba4410.8TYR, TYRP1, MITF
6dhica4410.7TYRP1, TYR
7phaeomelanin4410.7MC1R, TYR
8arbutin2 4411.6TYRP1, TYR
9ibmx44 28 5912.6MC1R, TYRP1, TYR
10dopaquinone44 2411.6TYR, TYRP1
11l-dopa28 2411.5GPR143, TYR
12silver4410.3MC1R, MITF, TYRP1

GO Terms for genes affiliated with Albinism

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16Gene Ontology
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Cellular components related to Albinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanosome membraneGO:03316210.7SLC45A2, GPR143, TYRP1, TYR, OCA2
2lysosomeGO:00576410.6HPS4, HPS1, TYR
3melanosomeGO:04247010.6TYR, TYRP1, HPS4, GPR143, SLC24A5
4endosome membraneGO:01000810.3CLCN4, TYRP1, OCA2

Biological processes related to Albinism according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1melanocyte differentiationGO:03031810.9HPS4, HPS1, MITF, TYRP1, OCA2, C10orf11
2melanin biosynthetic processGO:04243810.8OCA2, TYRP1, MC1R, SLC45A2
3melanosome organizationGO:03243810.8GPR143, TYRP1, BLOC1S3, SHROOM2
4visual perceptionGO:00760110.8SLC45A2, GPR143, HPS1, TYR, CACNA1F
5eye pigment biosynthetic processGO:00672610.8OCA2, TYR, GPR143
6secretion of lysosomal enzymesGO:03329910.6HPS1, BLOC1S3
7positive regulation of natural killer cell activationGO:03281610.6BLOC1S3, HPS1
8lysosome organizationGO:00704010.6HPS4, HPS1
9melanosome transportGO:03240210.5GPR143, BLOC1S3
10pigmentationGO:04347310.3MC1R, BLOC1S3

Molecular functions related to Albinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein dimerization activityGO:04698310.6HPS4, HPS1, MITF
2antiporter activityGO:01529710.3SLC24A5, CLCN4

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet