MCID: ALB002
MIFTS: 43

Albinism malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Albinism

About this section

Albinism, Aliases & Descriptions:

Name: Albinism 63 41 20 43 22


Classifications:



External Ids:

ICD1025 E70.3

Summaries for Albinism

About this section


NIH Rare Diseases:41 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 albinism, oculocutaneous, type ia. 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:63 Albinism in humans (from the Latin albus, \"white\"; see extended etymology, also called achromia,... more...

Related Diseases for Albinism

About this section

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

(show top 50)    (show all 167)
idRelated DiseaseScoreTop Affiliating Genes
1ocular albinism31.8TYR, GPR143
2albinism, oculocutaneous, type ia31.6TYR
3albinism, oculocutaneous, type ii31.5OCA2
4oculocutaneous albinism31.4TYRP1, TYR, OCA2, SLC45A2
5albinism, oculocutaneous, type iv31.1SLC45A2
6congenital nystagmus30.7GPR143, OCA2
7hermansky-pudlak syndrome30.6TYR, OCA2, HPS4, TYRP1
8amelanotic melanoma30.6TYRP1, TYR
9microphthalmia30.3TYRP1, TYR
10waardenburg's syndrome30.2TYR, TYRP1
11melanoma30.1OCA2, SLC45A2, GPR143, TYR, TYRP1
12albinism, oculocutaneous, type iii10.6
13albinism, oculocutaneous, type ib10.6
14ocular albinism, x-linked10.6
15waardenburg syndrome/ocular albinism, digenic10.5
16microcephaly-albinism-digital anomalies syndrome10.4
17albinism-deafness syndrome10.4
18griscelli syndrome10.4
19retinitis10.4
20chediak-higashi syndrome10.4
21albinism, oculocutaneous, type v10.4
22tietz albinism-deafness syndrome10.3
23aland island eye disease10.3
24ocular albinism, type i, nettleship-falls type10.3
25griscelli syndrome, type 110.3
26albinism, oculocutaneous, type vi10.3
27oculocerebral hypopigmentation syndrome type preus10.3
28abcd syndrome10.2
29griscelli syndrome, type 210.2
30vici syndrome10.2
31neuronitis10.2
32ermine phenotype10.2
33oculocerebral syndrome with hypopigmentation10.2
34griscelli syndrome, type 310.2
35hermansky-pudlak syndrome 210.2
36albinism, oculocutaneous, type vii10.2
37piebaldism10.2
38choroiditis10.2
39albinism immunodeficiency10.2
40temperature-sensitive oculocutaneous albinism type 110.2
41attenuated chédiak-higashi syndrome10.2
42spinocerebellar ataxia, autosomal recessive 210.2
43hermansky-pudlak syndrome 110.2
44prader-willi syndrome10.2
45albinism, minimal pigment type10.2
46minimal pigment oculocutaneous albinism type 110.2
47ocular albinism with congenital sensorineural deafness10.2
48vitiligo-associated multiple autoimmune disease susceptibility 110.1TYR, TYRP1
49testicular cancer10.1TYR, TYRP1
50schizophrenia10.1

Graphical network of the top 20 diseases related to Albinism:



Diseases related to albinism

Symptoms for Albinism

About this section

Drugs & Therapeutics for Albinism

About this section

Drug clinical trials:

Search ClinicalTrials for Albinism

Search NIH Clinical Center for Albinism

Genetic Tests for Albinism

About this section

Genetic tests related to Albinism:

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

Anatomical Context for Albinism

About this section

MalaCards organs/tissues related to Albinism:

31
Skin, Eye, Testes, Brain, Cortex, Nk cells, Bone, Retina, Liver, Lung

Animal Models for Albinism or affiliated genes

About this section

MGI Mouse Phenotypes related to Albinism:

35
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

About this section

Articles related to Albinism:

(show top 50)    (show all 714)
idTitleAuthorsYear
1
The portrayal of albinism in pop culture: a 360A^ change from previous ideology. (25760824)
2015
2
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication. (25690523)
2015
3
Authors' response: evaluation of choroidal thickness among patients with oculocutaneous albinism. (24876456)
2014
4
Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America. (25455140)
2014
5
Albinism in barley androgenesis. (24326697)
2013
6
Oculocutaneous albinism and skin cancer risk. (22757611)
2013
7
Skin flora: Differences between people affected by Albinism and those with normally pigmented skin in Northern Tanzania - cross sectional study. (22846672)
2012
8
Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection? (23063908)
2012
9
Syndromic albinism and haemophagocytosis. (19764984)
2010
10
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. (19865097)
2010
11
Evaluation of vision-specific quality-of-life in albinism. (19157938)
2009
12
Albinism: Images in ophthalmology. (21234225)
2009
13
Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. (17960121)
2007
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
Ocular albinism type 1: more than meets the eye. (11549106)
2001
25
Mutation analysis of the tyrosinase gene in oculocutaneous albinism. (11295837)
2001
26
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. (10905897)
2000
27
Electron microscopic DOPA reaction test for oculocutaneous albinism. (10929771)
2000
28
Comparison of techniques for detecting visually evoked potential asymmetry in albinism. (11040481)
2000
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
Oculocutaneous albinism in the i6 mutant of the medaka fish is associated with a deletion in the tyrosinase gene. (10454293)
1999
31
Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan. (10571953)
1999
32
Unilateral alpha reactivity: an electroencephalographic finding in albinism. (9563581)
1998
33
Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2). (10671067)
1998
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

About this section

Expression for genes affiliated with Albinism

About this section
Search GEO for disease gene expression data for Albinism.

Pathways for genes affiliated with Albinism

About this section

Pathways related to Albinism according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6TYR, TYRP1
2
Show member pathways
phenylalanine utilization36
noradrenaline and adrenaline degradation36
phenylalanine degradation IV36
9.6TYR, TYRP1

Compounds for genes affiliated with Albinism

About this section

Compounds related to Albinism according to GeneCards Suite gene sharing:

(show all 12)
idCompoundScoreTop Affiliating Genes
1l-dopa28 2411.0TYR, GPR143
2kojic acid439.8TYR, TYRP1
3Melanin249.8OCA2, TYRP1
4dhica439.8TYR, TYRP1
5arbutin2 4310.8TYRP1, TYR
6dopaquinone43 2410.8TYR, TYRP1
7eumelanin439.7TYRP1, TYR
8dopachrome439.7TYR, TYRP1
9hmba439.6TYR, TYRP1
10copper43 2410.6TYR, TYRP1
11levodopa43 1210.5TYRP1, TYR
12ibmx43 59 2811.3TYR, TYRP1

GO Terms for genes affiliated with Albinism

About this section

Cellular components related to Albinism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1melanosome membraneGO:00331628.2SLC45A2, OCA2, GPR143, TYR, TYRP1
2melanosomeGO:00424708.1TYRP1, TYR, GPR143, HPS4, SLC24A5
3integral component of membraneGO:00160217.9SLC24A5, SLC45A2, OCA2, GPR143, TYR, TYRP1

Biological processes related to Albinism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1melanosome organizationGO:00324389.5GPR143, TYRP1
2eye pigment biosynthetic processGO:00067269.5OCA2, GPR143, TYR
3response to stimulusGO:00508969.4SLC24A5, SLC45A2
4melanin biosynthetic processGO:00424389.0TYRP1, OCA2, SLC45A2
5visual perceptionGO:00076018.9SLC45A2, GPR143, TYR
6melanocyte differentiationGO:00303188.7HPS4, OCA2, TYRP1, C10orf11

Molecular functions related to Albinism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055079.5TYR, TYRP1
2protein homodimerization activityGO:00428038.8HPS4, TYR, TYRP1
3protein bindingGO:00055157.6TYR, GPR143, OCA2, HPS4, TBL1X, TYRP1

Products for genes affiliated with Albinism

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Albinism

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet