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
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II. (24361966)
2014
2
The first confirmed cases of full albinism in rajid species. (23557319)
2013
3
Oculocutaneous albinism. (23772437)
2013
4
Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism. (23190901)
2013
5
Reading skills in children and adults with albinism: the role of visual impairment. (22074358)
2012
6
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism. (21968110)
2011
7
The functional significance of foveal abnormalities in albinism measured using spectral-domain optical coherence tomography. (21570122)
2011
8
Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1. (20447099)
2010
9
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. (19208379)
2009
10
A unique case of a congenital diaphragmatic hernia in a boy with albinism. (20005999)
2009
11
Multiple inflamed nevi in a child with oculocutaneous albinism: what lessons can be learned? (19250424)
2009
12
Albinism: classification, clinical characteristics, and recent findings. (19390472)
2009
13
Albinism and developmental delay: the need to test for 15q11-q13 deletion. (17903679)
2007
14
Chiasmal misrouting and foveal hypoplasia without albinism. (16707527)
2006
15
Assessment of cortical visual field representations with multifocal VEPs in control subjects, patients with albinism, and female carriers of ocular albinism. (16799067)
2006
16
Prenatal gene diagnosis of oculocutaneous albinism type I]. (16767664)
2006
17
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. (15565285)
2005
18
The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. (16029416)
2005
19
Molecular basis of oculocutaneous albinism type 1 in Lebanese patients. (15937636)
2005
20
Gene symbol: TYR. Disease: Albinism, oculocutaneous 1. (16156027)
2005
21
New method for detecting misrouted retinofugal fibers in humans with albinism by magnetoencephalography. (15031097)
2004
22
The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. (15254223)
2004
23
Positive angle kappa: a sign of albinism in patients with congenital nystagmus. (15488828)
2004
24
Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. (15635296)
2004
25
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
26
Organization of the visual cortex in human albinism. (14523094)
2003
27
Mutational analysis of the OA1 gene in ocular albinism. (12868035)
2003
28
Grating acuity in albinism in the first three years of life. (12506283)
2002
29
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
30
Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. (11167973)
2000
31
Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism. (10823941)
2000
32
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. (10649493)
2000
33
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. (9345097)
1997
34
Polygenic disease and retinitis pigmentosa: albinism exacerbates photoreceptor degeneration induced by the expression of a mutant opsin in transgenic mice. (8987813)
1996
35
Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). (7762554)
1995
36
Ophthalmic features of minimal pigment oculocutaneous albinism. (8190479)
1994
37
Molecular basis of dark-eyed albinism in the mouse. (8197131)
1994
38
Amelanotic metastatic melanoma in a patient with oculocutaneous albinism. (8491890)
1993
39
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. (1642278)
1992
40
Malignant melanoma in a child with oculocutaneous albinism. (1405654)
1992
41
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. (1899321)
1991
42
Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. (1905879)
1991
43
Isolation and purification of ceruloplasmin in oculocutaneous albinism, Menkes' disease, Wilson's disease and pregnant women. (6616879)
1983
44
Inversion of direction-selectivity to anterior fields in neurons of nucleus of the optic tract in rabbits with ocular albinism. (7272756)
1981
45
Lentigo maligna in a woman with oculocutaneous albinism. (7247429)
1981
46
Oculocutaneous albinism with Axenfeld's anomaly. (6789680)
1981
47
Forsius-Eriksson syndrome: its relation to the Nettleship-Falls X-linked ocular albinism. (7398111)
1980
48
Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males. (687204)
1978
49
RECESSIVE TOTAL ALBINISM AND CONGENITAL DEAF-MUTISM. (14070830)
1964
50
Ocular albinism with changes typical of conductors in a Danish family. (13469169)
1957

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
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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