MCID: ALB002
MIFTS: 50

Albinism malady

Summaries for Albinism

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43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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, liver and brain, and related mouse phenotypes are pigmentation and vision/eye.

Wikipedia:64 Albinism (from Latin albus, \"white\"; see extended etymology, also called achromia, achromasia, or... more...

Aliases & Classifications for Albinism

Sources:
64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek
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Aliases & Descriptions:

albinism 64 43 20 22 45


Related Diseases for Albinism

Sources:
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 148)
idRelated DiseaseScoreTop Affiliating Genes
1oculocutaneous albinism31.6MC1R, TYRP1, OCA2, SLC45A2, TYR
2ocular albinism31.4TYR, MITF, GPR143
3oculocutaneous albinism type 130.9TYR
4oculocutaneous albinism type 230.8OCA2
5hermansky-pudlak syndrome30.7TYR, OCA2, BLOC1S3, TYRP1, HPS1, HPS4
6oculocutaneous albinism type 430.5SLC45A2
7chediak-higashi syndrome30.4TYR
8hermansky-pudlak syndrome 130.3HPS1
9amelanotic melanoma30.3TYRP1, TYR
10congenital nystagmus30.2GPR143, OCA2
11waardenburg's syndrome30.2TYR, TYRP1, MITF
12microphthalmia30.1MITF, MC1R, TYRP1, TYR
13piebaldism30.1MITF
14vitiligo29.9TYR, TYRP1, MITF
15strabismus29.9GPR143
16platelet storage pool deficiency29.7HPS1, BLOC1S3, HPS4
17oculocutaneous albinism type 1b10.5
18ocular albinism, x-linked10.5
19oculocutaneous albinism type 310.5
20albinism deafness syndrome10.4
21microcephaly-albinism-digital anomalies syndrome10.4
22albinism ocular late onset sensorineural deafness10.3
23ocular albinism, type i, nettleship-falls type10.3
24albinism immunodeficiency10.3
25griscelli syndrome type 110.3
26albinism, oculocutaneous, type v10.3
27n syndrome10.3
28rufous oculocutaneous albinism10.3
29tietz syndrome10.2
30albinism, brown oculocutaneous10.2
31albinism, oculocutaneous, type vi10.2
32aland island eye disease10.2
33griscelli syndrome10.2
34waardenburg syndrome/ocular albinism, digenic10.2
35albinism, minimal pigment type10.2
36oculocerebral hypopigmentation syndrome type preus10.2
37prader-willi syndrome10.1
38abcd syndrome10.1
39vici syndrome10.1
40ermine phenotype10.1
41griscelli syndrome type 210.1
42waardenburg syndrome/albinism, digenic10.1
43angelman syndrome10.1
44aniridia10.1
45waardenburg syndrome type i10.1
46cerebelloparenchymal disorder 310.1
47oculocerebral syndrome with hypopigmentation10.1
48griscelli syndrome type 310.1
49brown oca10.1
50albinism, oculocutaneous, type vii10.1

Graphical network of the top 20 diseases related to Albinism:



Diseases related to albinism

Clinical Features for Albinism

Drugs & Therapeutics for Albinism

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Albinism:

33
Skin, Liver, Brain, Lung, Whole blood, Cortex, Retina, Nk cells, T cells, B cells, Fetal brain, Fetal liver, Fetal lung, Adrenal cortex

Animal Models for Albinism or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Albinism

Sources:
51PubMed
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Articles related to Albinism:

(show top 50)    (show all 676)
idTitleAuthorsYear
1
Morphogenetic model for radial streaking in the fundus of the carrier state of X-linked albinism. (23519542)
2013
2
Genetic regulation of cold-induced albinism in the maize inbred line A661. (23881393)
2013
3
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. (24290379)
2013
4
A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism. (22916221)
2012
5
Syndromic albinism and haemophagocytosis. (19764984)
2010
6
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. (21348135)
2010
7
Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community. (20019752)
2010
8
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2. (19610114)
2009
9
Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2). (18036783)
2008
10
The ocular albinism type 1 protein, an intracellular G protein- coupled receptor, regulates melanosome transport in pigment cells. (18697795)
2008
11
Experiences of a feasibility study of children with albinism in Zimbabwe: a discussion paper. (17602690)
2008
12
A molecular link between albinism and visual deficits. (20076724)
2008
13
Retinal function in X-linked ocular albinism (OA1). (18798082)
2008
14
X-Linked ocular albinism; Nettleship-Falls ocular albinism. (18627740)
2008
15
Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. (18407468)
2008
16
Oculocutaneous albinism in a rural community of South Africa: a population genetic study. (17620156)
2007
17
Albinism among Nigerians with malignant melanoma. (15712560)
2005
18
Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1). (16098056)
2005
19
Positive angle kappa: a sign of albinism in patients with congenital nystagmus. (15059699)
2004
20
Griscelli syndrome: a rare immunodeficiency disorder with partial albinism. (15187349)
2004
21
Oculocutaneous albinism. (12702061)
2003
22
The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. (12028586)
2002
23
A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). (11858948)
2002
24
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. (11284711)
2001
25
Mutation analysis of the tyrosinase gene in oculocutaneous albinism. (11295837)
2001
26
Albinism and melanocytes. (11584602)
2001
27
Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper. (9568405)
1998
28
Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1) (9457748)
1997
29
Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation. (9099845)
1997
30
Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. (9163730)
1997
31
R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism. (8953413)
1996
32
Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. (7778600)
1995
33
Molecular genetics of oculocutaneous albinism. (8217557)
1993
34
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. (8230160)
1993
35
Foveal hypoplasia in complete oculocutaneous albinism. A histopathologic study. (1410836)
1992
36
Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis. (1348665)
1992
37
A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. (1711223)
1991
38
Eumelanin and pheomelanin contents in hair and 5-S-cysteinyldopa and 5-hydroxy-6-methoxyindole-2-carboxylic acid levels in urine in Japanese oculocutaneous albinism. (2059060)
1991
39
A hereditary syndrome association of oculocutaneous albinism, dysmorphic features and short stature. (2280979)
1990
40
Familial association of albinism and schizophrenia. (2611578)
1989
41
Oculocutaneous albinism associated with congenital glaucoma. (3405593)
1988
42
Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism. (3148727)
1988
43
Prenatal diagnosis of oculocutaneous albinism by electron microscopy of fetal skin. (6827132)
1983
44
Oculocutaneous albinism and corneal mesodermal dysgenesis. (7294125)
1981
45
Edridge-Green Lecture, 1978. Visual disabilities of oculocutaneous albinism and their alleviation. (115122)
1978
46
Oculocutaneous albinism associated with Apert's syndrome. (596398)
1977
47
Proceedings: Study of albinism in relation to HermanskA1-PudlA!k syndrome. (1188819)
1975
48
Albinism and auditory function in the laboratory mouse. I. Effects of single-gene substitutions on auditory physiology, audiogenic seizures, and developmental processes. (1055577)
1975
49
TOTAL COLOR BLINDNESS AND ALBINISM. TWO CAUSES OF SUBNORMAL VISUAL ACUITY IN CHILDREN. (14256521)
1965
50
OCULAR ALBINISM AND PROTANOPIA IN THE SAME FAMILY. (14213931)
1964

Genetic Variations for Albinism

Expression for genes affiliated with Albinism

Sources:
1BioGPS, 15Gene 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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30KEGG
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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

Sources:
45Novoseek, 11DrugBank, 2BitterDB, 29IUPHAR, 60Tocris Bioscience, 24HMDB
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Compounds related to Albinism according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1dopachrome4510.9MC1R, MITF, TYRP1, TYR
2kojic acid4510.8MITF, TYRP1, TYR
3levodopa45 1111.8MC1R, HPS1, TYRP1, TYR
4eumelanin4510.8TYR, TYRP1, MC1R
5hmba4510.8TYR, TYRP1, MITF
6dhica4510.7TYRP1, TYR
7phaeomelanin4510.7MC1R, TYR
8arbutin2 4511.6TYRP1, TYR
9ibmx45 29 6012.6MC1R, TYRP1, TYR
10dopaquinone45 2411.6TYR, TYRP1
11l-dopa29 2411.5GPR143, TYR
12silver4510.3MC1R, MITF, TYRP1

GO Terms for genes affiliated with Albinism

Sources:
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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  • Antibodies

Sources for Albinism

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet