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, Liver, Bone, Lung, Retina

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:000118611.1GPR143, SLC45A2, SLC24A5, OCA2, MC1R, HPS4
2MP:000539111.0HPS1, MITF, HPS4, TYR, BLOC1S3, GPR143
3MP:001077110.9SLC45A2, SLC24A5, MC1R, HPS4, HPS1, MITF
4MP:000537710.9MC1R, HPS4, HPS1, OCA2, BLOC1S3, TYRP1
5MP:000301210.7CACNA1F, MC1R, HPS1, OCA2, MITF, TYR
6MP:000538210.7MC1R, HPS4, HPS1, MITF, TYRP1, BLOC1S3
7MP:000537110.4OCA2, BLOC1S3, TYR, HPS1, MC1R, MITF

Publications for Albinism

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50PubMed
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Articles related to Albinism:

(show top 50)    (show all 676)
idTitleAuthorsYear
1
Snowflake, albinism and conservation. (24152041)
2013
2
Albinism in Europe. (23668539)
2013
3
Pigmented choroidal nevus in a child with oculocutaneous albinism. (23352722)
2013
4
Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection? (23063908)
2012
5
An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals]. (23242301)
2012
6
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4. (22987308)
2012
7
Effect of low temperature on chlorophyll biosynthesis in albinism line of wheat (Triticum aestivum) FA85. (22380525)
2012
8
Evolution of albinism in cave planthoppers by a convergent defect in the first step of melanin biosynthesis. (23017027)
2012
9
Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients]. (22097729)
2011
10
Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II. (21491616)
2010
11
Novel human pathological mutations. Gene symbol: TYR. Disease: Albinism, oculocutaneous 1. (21491619)
2010
12
Evaluation of vision-specific quality-of-life in albinism. (19157938)
2009
13
Bilateral keratoconus with oculocutaneous albinism. (18797083)
2008
14
SLC45A2 variations in Indian oculocutaneous albinism patients. (17768386)
2007
15
Identification of two novel mutations in families with X-linked ocular albinism. (17960122)
2007
16
Ocular albinism 1 protein: trafficking and function when expressed in Saccharomyces cerevisiae. (16154128)
2006
17
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. (16417222)
2006
18
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. (15996218)
2005
19
A Tyrosinase missense mutation causes albinism in the Wistar rat. (15760344)
2005
20
A Case of oculocutaneous albinism in a Maltese. (16294003)
2005
21
Gene symbol: TYR. Disease: Albinism, oculocutaneous 1. (15991333)
2005
22
A form of albinism in cattle is caused by a tyrosinase frameshift mutation. (14727143)
2004
23
Hopi Indians, "cultural" selection, and albinism. (12740958)
2003
24
A sociological study of children with albinism at a special school in the Limpopo province. (14509105)
2002
25
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation. (11041207)
2000
26
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome) [correction of (Hennansky-Pudlak)]. (10037574)
1999
27
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). (9546825)
1998
28
Oculocutaneous albinism in an isolated Tonga community in Zimbabwe. (9321758)
1997
29
Utility of linked markers in genetic counseling: estimation of carrier risks in X-linked ocular albinism. (9129743)
1997
30
Diagnosis of oculocutaneous albinism with molecular analysis. (8644824)
1996
31
Transillumination of iris and subnormal visual acuity--ocular albinism? (8795373)
1996
32
Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". (8651291)
1996
33
Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS). (7759088)
1995
34
Intellectual and educational attainment in albinism. (8587020)
1995
35
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. (7920637)
1994
36
Partial albinism with immunodeficiency (Griscelli syndrome). (7996360)
1994
37
Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome? (8042664)
1994
38
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. (8128955)
1994
39
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. (8421497)
1993
40
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. (8364577)
1993
41
Pathogenesis of the platinum (cp) mutation, a model for oculocutaneous albinism. (7688401)
1993
42
Oculocutaneous Albinism Type 4 (20301683)
1993
43
Oculocutaneous albinism in Cameroon. A 15-year follow-up study. (2096353)
1990
44
Oculocutaneous albinism and schizophrenia-like psychosis. (2915216)
1989
45
Developmental glaucoma in oculocutaneous albinism. (3405588)
1988
46
Fundal findings in a female carrier of X-linked ocular albinism. (3579700)
1987
47
Segregation analysis of brown oculocutaneous albinism. (3742854)
1986
48
X-linked inheritance of ocular albinism with late-onset sensorineural deafness. (6542750)
1984
49
Amish albinism: a distinctive autosomal recessive phenotype. (5516239)
1970
50
X-chromosomal ocular albinism in a Dutch family. (13373175)
1956

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
Hide members
10.6MC1R, MITF, TYRP1, TYR
2
Hide members
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:03316210.7TYRP1, OCA2, SLC45A2, GPR143, TYR
2lysosomeGO:00576410.6TYR, HPS1, HPS4
3melanosomeGO:04247010.6TYRP1, HPS4, GPR143, SLC24A5, TYR
4endosome membraneGO:01000810.3OCA2, TYRP1, CLCN4

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