MCID: ALB002
MIFTS: 45

Albinism

Categories: Rare diseases, Metabolic diseases, Genetic diseases

Aliases & Classifications for Albinism

MalaCards integrated aliases for Albinism:

Name: Albinism 72 50 24 29 52

Classifications:



External Ids:

ICD10 33 E70.3

Summaries for Albinism

NIH Rare Diseases : 50 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: 5/24/2016

MalaCards based summary : Albinism is related to tietz albinism-deafness syndrome and chediak-higashi syndrome. An important gene associated with Albinism is TYRP1 (Tyrosinase Related Protein 1), and among its related pathways/superpathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Tyrosine metabolism. The drugs Estradiol and Medroxyprogesterone acetate have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia : 72 Albinism in humans is a congenital disorder characterized by the complete or partial absence of pigment... more...

Related Diseases for Albinism

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

(show top 50) (show all 175)
id Related Disease Score Top Affiliating Genes
1 tietz albinism-deafness syndrome 33.7 MITF TYR
2 chediak-higashi syndrome 32.4 HPS1 TYR TYRP1
3 commad syndrome 32.4 MITF TYR
4 oculocutaneous albinism 12.4
5 albinism, oculocutaneous, type ii 12.3
6 ocular albinism with sensorineural deafness 12.3
7 albinism, oculocutaneous, type ib 12.3
8 albinism, oculocutaneous, type ia 12.3
9 albinism, oculocutaneous, type iii 12.3
10 ocular albinism 12.2
11 ocular albinism, type i, nettleship-falls type 12.2
12 waardenburg syndrome/ocular albinism, digenic 12.2
13 albinism, oculocutaneous, type iv 12.2
14 albinism, oculocutaneous, type vi 12.2
15 ocular albinism, x-linked 12.2
16 albinism, oculocutaneous, type vii 12.1
17 albinism-deafness syndrome 12.1
18 albinism, oculocutaneous, type v 12.1
19 albinism-microcephaly-digital anomalies syndrome 12.0
20 albinism immunodeficiency 12.0
21 hermansky-pudlak syndrome 11.8
22 minimal pigment oculocutaneous albinism type 1 11.8
23 griscelli syndrome 11.7
24 albinism, minimal pigment type 11.7
25 aland island eye disease 11.7
26 hermansky-pudlak syndrome 2 11.6
27 abcd syndrome 11.6
28 hermansky-pudlak syndrome 4 11.5
29 hermansky-pudlak syndrome 7 11.4
30 hermansky-pudlak syndrome 9 11.4
31 hermansky-pudlak syndrome 8 11.4
32 hermansky-pudlak syndrome 1 11.3
33 hermansky-pudlak syndrome 5 11.3
34 piebaldism 11.3
35 hermansky-pudlak syndrome 3 11.2
36 hermansky-pudlak syndrome 6 11.2
37 foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 11.2
38 griscelli syndrome, type 1 11.1
39 griscelli syndrome, type 2 11.1
40 ermine phenotype 11.0
41 hermansky-pudlak syndrome 10 10.9
42 hypomelanotic disorder 10.9
43 kotzot-richter syndrome 10.8
44 nystagmus 1, congenital, x-linked 10.8
45 immunodeficiency due to defect in mapbp-interacting protein 10.6
46 spinocerebellar ataxia, autosomal recessive 2 10.6
47 foveal hypoplasia 1 10.6
48 hypogonadotropic hypogonadism 1 with or without anosmia 10.5 GPR143 TYR
49 prostate cancer, hereditary, 7 10.3 OCA2 TYRP1
50 sebaceous basal cell carcinoma 10.3 MITF TYR

Graphical network of the top 20 diseases related to Albinism:



Diseases related to Albinism

Symptoms & Phenotypes for Albinism

MGI Mouse Phenotypes related to Albinism:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.95 HPS1 HPS4 MITF OCA2 SLC45A2 TYR
2 homeostasis/metabolism MP:0005376 9.92 HPS1 HPS4 LRMDA MITF OCA2 SLC45A2
3 craniofacial MP:0005382 9.91 HPS4 MITF OCA2 TYR TYRP1 HPS1
4 hearing/vestibular/ear MP:0005377 9.85 HPS1 HPS4 MITF OCA2 TYR TYRP1
5 integument MP:0010771 9.8 HPS1 HPS4 MITF OCA2 SLC45A2 TYR
6 pigmentation MP:0001186 9.56 HPS1 HPS4 MITF OCA2 SLC45A2 TYR
7 limbs/digits/tail MP:0005371 9.46 HPS1 MITF OCA2 TYR
8 vision/eye MP:0005391 9.23 GPR143 HPS1 HPS4 MITF OCA2 SLC45A2

Drugs & Therapeutics for Albinism

Drugs for Albinism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 85)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Medroxyprogesterone acetate Approved, Investigational Phase 4 71-58-9
3
Metformin Approved Phase 4 657-24-9 14219 4091
4
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538
5 Antineoplastic Agents, Hormonal Phase 4
6 Contraceptive Agents Phase 4
7 Contraceptive Agents, Male Phase 4
8 Contraceptives, Oral Phase 4
9 Estradiol 17 beta-cypionate Phase 4
10 Estradiol 3-benzoate Phase 4
11 Estradiol valerate Phase 4 979-32-8
12 Estrogens Phase 4
13 Hormone Antagonists Phase 4,Phase 1,Phase 2
14 Hormones Phase 4,Phase 1,Phase 2
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2
16 Hypoglycemic Agents Phase 4
17
Medroxyprogesterone Phase 4 520-85-4 10631
18 Polyestradiol phosphate Phase 4
19 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1
20
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741 24759
21
Allopurinol Approved Phase 3 315-30-0 2094
22
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
23 Adjuvants, Immunologic Phase 3
24 Protective Agents Phase 3,Phase 2,Phase 1
25 Viscosupplements Phase 3
26 Antirheumatic Agents Phase 3,Phase 2,Phase 1
27 Antimetabolites Phase 3,Phase 1,Phase 2
28 Antioxidants Phase 3,Phase 1,Phase 2
29 diuretics Phase 3
30 Natriuretic Agents Phase 3
31
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
32
Levodopa Approved Phase 2 59-92-7 6047
33
Carbidopa Approved Phase 2 28860-95-9 34359 38101
34
Nitisinone Approved, Investigational Phase 1, Phase 2 104206-65-7 115355
35
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
36
Erythromycin Approved, Vet_approved Phase 1, Phase 2 114-07-8 12560
37
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
38
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
39
Pirfenidone Investigational Phase 2 53179-13-8 40632
40
Angiotensin II Investigational Phase 1, Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
41 Anti-Infective Agents Phase 1, Phase 2
42 Antiparkinson Agents Phase 2
43 Dihydroxyphenylalanine Phase 2
44 Dopamine Agents Phase 2
45 Neurotransmitter Agents Phase 2
46 Analgesics Phase 2,Phase 1
47 Analgesics, Non-Narcotic Phase 2,Phase 1
48 Anti-Inflammatory Agents Phase 2,Phase 1
49 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
50 Peripheral Nervous System Agents Phase 2,Phase 1

Interventional clinical trials:

(show all 25)

id Name Status NCT ID Phase Drugs
1 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Unknown status NCT01640678 Phase 4
2 Punchgrafting Techniques for Vitiligo Unknown status NCT01377077 Phase 4
3 Apoptotic Signaling Pathways in Rats With Endometrial Hyperplasia Completed NCT02872818 Phase 4 17β estradiol hemihydrate;Metformin;medroxyprogesterone acetate
4 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Completed NCT02458417 Phase 4
5 A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism) Unknown status NCT02156427 Phase 3
6 Effect of Allopurinol for Hypoxic-ischemic Brain Injury on Neurocognitive Outcome Not yet recruiting NCT03162653 Phase 3 Allopurinol;Mannitol
7 Trial of L-DOPA as a Treatment to Improve Vision in Albinism Completed NCT01176435 Phase 2 Levodopa;Levodopa;Levodopa
8 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
9 Vision Response to Dopamine Replacement Recruiting NCT01663935 Phase 2 Levodopa/carbidopa
10 Nitisinone for Type 1B Oculocutaneous Albinism Active, not recruiting NCT01838655 Phase 1, Phase 2 Nitisinone (NTBC)
11 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2 Losartan;Zileuton;N-Acetylcysteine;Pravastatin;Erythromycin
12 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
13 Safety and Efficacy of Primaquine for P. Vivax Unknown status NCT01837992 Primaquine;delayed primaquine
14 Efficacy and Safety Evaluation of HCPA-1 Silicone Stent in the Treatment of Central Airway Obstructions Unknown status NCT01389531
15 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
16 Adapted Safe Childbirth Checklist in Chiapas, Mexico Completed NCT02886364
17 Multi-center Trial of Goal-directed Fluid Management Based on Pulse Pressure Variation Monitoring Completed NCT03128190
18 The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism Recruiting NCT02200263
19 Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Recruiting NCT00808106
20 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
21 Study of Chediak-Higashi Syndrome Recruiting NCT00005917
22 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
23 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520
24 Screening Protocol for Genetic Diseases of Allergic Inflammation Recruiting NCT00852943
25 AdaptResponse Clinical Trial Recruiting NCT02205359

Search NIH Clinical Center for Albinism

Genetic Tests for Albinism

Genetic tests related to Albinism:

id Genetic test Affiliating Genes
1 Albinism 29 24

Anatomical Context for Albinism

MalaCards organs/tissues related to Albinism:

39
Skin, Eye, Testes, Brain, Bone, Nk Cells, Cortex

Publications for Albinism

Articles related to Albinism:

(show top 50) (show all 826)
id Title Authors Year
1
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. ( 28737247 )
2017
2
Two skin cell lines from wild-type and albino Japanese flounder (Paralichthys olivaceus): establishment, characterization, virus susceptibility, efficient transfection, and application to albinism study. ( 28698966 )
2017
3
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. ( 28854565 )
2017
4
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1. ( 28112372 )
2017
5
Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism. ( 28211458 )
2017
6
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. ( 28144890 )
2017
7
A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella). ( 28476152 )
2017
8
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish. ( 28289846 )
2017
9
Blood serum retinol levels in Asinara white donkeys reflect albinism-induced metabolic adaptation to photoperiod at Mediterranean latitudes. ( 28070301 )
2017
10
A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4. ( 28192564 )
2017
11
Retrospective analysis in oculocutaneous albinism patients for the 2.7A kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W. ( 28451379 )
2017
12
Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study. ( 28555837 )
2017
13
Computational analysis of histidine mutations on the structural stability of human tyrosinases leading to albinism insurgence. ( 28640309 )
2017
14
Proposal for management and dermoscopy follow-up of nevi in patients affected by oculocutaneous albinism type Ia. ( 28243493 )
2017
15
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. ( 28266639 )
2017
16
Quantitative Succinyl-Proteome Profiling of Camellia sinensis cv. 'Anji Baicha' During Periodic Albinism. ( 28500349 )
2017
17
GPR143 mutations in Chinese patients with ocular albinism type 1. ( 28339057 )
2017
18
DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ( 28234808 )
2017
19
Multiple Basal Cell Carcinomas in a Patient of Oculocutaneous Albinism. ( 28405556 )
2017
20
Altered whole-brain connectivity in albinism. ( 27684406 )
2017
21
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. ( 28739598 )
2017
22
Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 28546946 )
2017
23
[Diagnosis of a case with oculocutaneous albinism type a8c with next generation exome capture sequencing]. ( 28186599 )
2017
24
Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing. ( 28507374 )
2017
25
Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism. ( 28632878 )
2017
26
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). ( 28667292 )
2017
27
The integrated analysis of RNA-seq and microRNA-seq depicts miRNA-mRNA networks involved in Japanese flounder (Paralichthys olivaceus) albinism. ( 28777813 )
2017
28
Assessment of molecular and epigenetic changes in the albinism of Agave angustifolia Haw. ( 28818371 )
2017
29
Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. ( 27720922 )
2017
30
A new type of syndromic albinism associated with mutations in AP3D1. ( 27900855 )
2016
31
Dome-shaped macula in oculocutaneous albinism. ( 27118754 )
2016
32
GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism. ( 27607449 )
2016
33
Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism. ( 27146942 )
2016
34
Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a caucasian family. ( 27776349 )
2016
35
Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4) - A Molecular Dynamics Approach. ( 27019209 )
2016
36
A cross-sectional examination of visual acuity by specific type of albinism. ( 27647118 )
2016
37
Allelic heterogeneity of albinism in the domestic cat. ( 27634063 )
2016
38
Case Report Identification of a novel SLC45A2 mutation in albinism by targeted next-generation sequencing. ( 27706749 )
2016
39
Surgical challenges and outcomes of rhegmatogenous retinal detachment in albinism. ( 26611845 )
2016
40
Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes. ( 26778432 )
2016
41
Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4. ( 27350326 )
2016
42
PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY. ( 27192893 )
2016
43
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism. ( 27129268 )
2016
44
Nystagmus Does Not Limit Reading Ability in Albinism. ( 27391149 )
2016
45
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. ( 27176668 )
2016
46
Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations. ( 26818737 )
2016
47
Triple jeopardy for people with albinism. ( 27615283 )
2016
48
Isolation and dynamic expression of four genes involving in shikimic acid pathway in Camellia sinensis 'Baicha 1' during periodic albinism. ( 27553670 )
2016
49
Albinism, stigma, subjectivity and global-local discourses in Tanzania. ( 27354179 )
2016
50
Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism. ( 27344970 )
2016

Variations for Albinism

ClinVar genetic disease variations for Albinism:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TYR NM_000372.4(TYR): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28940876 GRCh37 Chromosome 11, 88911363: 88911363
2 TYRP1 NM_000550.2(TYRP1): c.1103delA (p.Lys368Serfs) deletion Pathogenic rs387906560 GRCh37 Chromosome 9, 12704547: 12704547
3 TYRP1 NM_000550.2(TYRP1): c.1261+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs140365820 GRCh37 Chromosome 9, 12704706: 12704706

Expression for Albinism

Search GEO for disease gene expression data for Albinism.

Pathways for Albinism

GO Terms for Albinism

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

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.56 GPR143 HPS1 HPS4 TYR
2 melanosome GO:0042470 9.26 GPR143 HPS4 TYR TYRP1
3 BLOC-3 complex GO:0031085 9.16 HPS1 HPS4
4 melanosome membrane GO:0033162 9.02 GPR143 OCA2 SLC45A2 TYR TYRP1

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

id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.62 GPR143 HPS1 SLC45A2 TYR
2 lysosome organization GO:0007040 9.46 HPS1 HPS4
3 melanosome organization GO:0032438 9.43 GPR143 TYRP1
4 pigmentation GO:0043473 9.43 OCA2 TYR TYRP1
5 developmental pigmentation GO:0048066 9.4 OCA2 SLC45A2
6 melanosome assembly GO:1903232 9.37 HPS1 HPS4
7 eye pigment biosynthetic process GO:0006726 9.33 GPR143 OCA2 TYR
8 melanin biosynthetic process GO:0042438 9.26 OCA2 SLC45A2 TYR TYRP1
9 melanocyte differentiation GO:0030318 9.02 HPS4 LRMDA MITF OCA2 TYRP1

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

id Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.96 TYR TYRP1
2 protein dimerization activity GO:0046983 8.8 HPS1 HPS4 MITF

Sources for Albinism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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