MCID: ALB002
MIFTS: 46

Albinism

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Albinism

MalaCards integrated aliases for Albinism:

Name: Albinism 76 53 29 55 6

Classifications:



External Ids:

ICD10 33 E70.3

Summaries for Albinism

NIH Rare Diseases : 53 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.

MalaCards based summary : Albinism is related to albinism, ocular, with sensorineural deafness and tietz albinism-deafness syndrome. An important gene associated with Albinism is TYR (Tyrosinase), and among its related pathways/superpathways are Melanocyte Development and Pigmentation and Melanin biosynthesis. The drugs Metformin and Estradiol valerate have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 76 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 186)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, with sensorineural deafness 34.5 MITF TYR
2 tietz albinism-deafness syndrome 34.0 MITF TYR
3 albinism, oculocutaneous, type ii 33.5 MC1R OCA2 TYRP1
4 chediak-higashi syndrome 32.8 HPS1 TYR TYRP1
5 hermansky-pudlak syndrome 3 32.5 MITF TYR TYRP1
6 ocular albinism 32.5 GPR143 MITF OCA2 SLC45A2 TYR TYRP1
7 waardenburg's syndrome 30.9 MITF TYR TYRP1
8 amelanotic melanoma 30.6 TYR TYRP1
9 hermansky-pudlak syndrome 1 30.5 HPS1 HPS4 OCA2 SLC24A5 SLC45A2 TYR
10 hermansky-pudlak syndrome 30.3 AP3D1 BLOC1S3 HPS1 HPS4 TYR TYRP1
11 hermansky-pudlak syndrome with pulmonary fibrosis 30.0 HPS1 HPS4
12 pigmentation disease 29.7 MITF TYR
13 strabismus 29.5 GPR143 SLC24A5 TYR TYRP1
14 congenital nystagmus 29.1 GPR143 MC1R OCA2 TYR
15 microphthalmia 28.7 MC1R MITF TYR TYRP1
16 oculocutaneous albinism 28.2 BLOC1S3 HPS1 HPS4 LRMDA MC1R OCA2
17 albinism, oculocutaneous, type ia 12.6
18 albinism, oculocutaneous, type iii 12.5
19 albinism, oculocutaneous, type ib 12.5
20 albinism, ocular, type i 12.5
21 albinism, ocular, with late-onset sensorineural deafness 12.4
22 albinism, oculocutaneous, type iv 12.4
23 albinism, oculocutaneous, type vii 12.3
24 albinism, oculocutaneous, type vi 12.3
25 albinism, oculocutaneous, type v 12.3
26 ocular albinism, x-linked 12.3
27 albinism-deafness syndrome 12.3
28 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.2
29 albinism-microcephaly-digital anomalies syndrome 12.1
30 minimal pigment oculocutaneous albinism type 1 11.9
31 griscelli syndrome 11.8
32 aland island eye disease 11.8
33 albinism, minimal pigment type 11.8
34 hermansky-pudlak syndrome 2 11.8
35 abcd syndrome 11.8
36 deafness, congenital, with total albinism 11.8
37 hermansky-pudlak syndrome 4 11.7
38 hermansky-pudlak syndrome 7 11.6
39 hermansky-pudlak syndrome 8 11.6
40 hermansky-pudlak syndrome 9 11.6
41 hermansky-pudlak syndrome 5 11.5
42 foveal hypoplasia 2 11.5
43 hermansky-pudlak syndrome 6 11.4
44 griscelli syndrome, type 2 11.3
45 piebald trait 11.3
46 griscelli syndrome, type 1 11.2
47 kotzot-richter syndrome 11.2
48 ermine phenotype 11.1
49 vici syndrome 11.1
50 hermansky-pudlak syndrome 10 11.0

Graphical network of the top 20 diseases related to Albinism:



Diseases related to Albinism

Symptoms & Phenotypes for Albinism

MGI Mouse Phenotypes related to Albinism:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 LRMDA BLOC1S3 TYR OCA2 MC1R SLC24A5
2 growth/size/body region MP:0005378 10.22 BLOC1S3 TYR OCA2 MC1R HPS1 SLC24A5
3 cellular MP:0005384 10.16 BLOC1S3 TYR OCA2 MC1R HPS1 AP3D1
4 hearing/vestibular/ear MP:0005377 10.16 MC1R HPS1 TYRP1 SLC24A5 AP3D1 MITF
5 craniofacial MP:0005382 10.15 TYR OCA2 MC1R HPS1 SLC24A5 MITF
6 integument MP:0010771 10.11 TYR OCA2 MC1R HPS1 TYRP1 SLC24A5
7 homeostasis/metabolism MP:0005376 10.1 LRMDA TYR OCA2 HPS1 SLC24A5 AP3D1
8 hematopoietic system MP:0005397 10.09 LRMDA BLOC1S3 OCA2 MC1R HPS1 AP3D1
9 pigmentation MP:0001186 9.93 MC1R GPR143 HPS1 TYRP1 SLC24A5 AP3D1
10 limbs/digits/tail MP:0005371 9.8 BLOC1S3 TYR OCA2 MC1R HPS1 MITF
11 no phenotypic analysis MP:0003012 9.65 TYR OCA2 MC1R HPS1 MITF
12 vision/eye MP:0005391 9.36 OCA2 GPR143 HPS1 TYRP1 SLC24A5 AP3D1
13 renal/urinary system MP:0005367 9.35 HPS4 TYR OCA2 HPS1 AP3D1

Drugs & Therapeutics for Albinism

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

(show top 50) (show all 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2 Estradiol valerate Approved, Investigational, Vet_approved Phase 4 979-32-8
3
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
4
Medroxyprogesterone acetate Approved, Investigational Phase 4 71-58-9
5
Polyestradiol phosphate Approved Phase 4 28014-46-2
6
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538 444795
7
Medroxyprogesterone Phase 4 520-85-4 10631
8 Contraceptive Agents Phase 4
9 Contraceptive Agents, Male Phase 4
10 Contraceptives, Oral Phase 4
11 Hormone Antagonists Phase 4,Phase 1,Phase 2
12 Hormones Phase 4,Phase 1,Phase 2
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2
14 Hypoglycemic Agents Phase 4
15 Estradiol 17 beta-cypionate Phase 4
16 Estradiol 3-benzoate Phase 4
17 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1
18 Estrogens Phase 4
19 Antineoplastic Agents, Hormonal Phase 4
20
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741
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 Viscosupplements Phase 3
25 Protective Agents Phase 3,Phase 2,Phase 1
26 Antirheumatic Agents Phase 3,Phase 2,Phase 1
27 diuretics Phase 3
28 Natriuretic Agents Phase 3
29 Antioxidants Phase 3,Phase 1,Phase 2
30 Antimetabolites Phase 3,Phase 1,Phase 2
31
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
32
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
33
Levodopa Approved Phase 2 59-92-7 6047
34
Nitisinone Approved, Investigational Phase 1, Phase 2 104206-65-7 115355
35
Carbidopa Approved Phase 2 28860-95-9 34359 38101
36
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
37
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560
38
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
39
Angiotensin II Approved, Investigational Phase 1, Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
40
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
41 Anti-Infective Agents Phase 1, Phase 2,Not Applicable
42 Analgesics Phase 2,Phase 1
43 Neurotransmitter Agents Phase 2
44 Analgesics, Non-Narcotic Phase 2,Phase 1
45 Dihydroxyphenylalanine Phase 2
46 Dopamine Agents Phase 2
47 Peripheral Nervous System Agents Phase 2,Phase 1
48 Antiparkinson Agents Phase 2
49 Anti-Inflammatory Agents Phase 2,Phase 1
50 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1

Interventional clinical trials:

(show all 27)
# 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 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;Placebo
8 Nitisinone for Type 1B Oculocutaneous Albinism Completed NCT01838655 Phase 1, Phase 2 Nitisinone
9 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
10 Vision Response to Dopamine Replacement Recruiting NCT01663935 Phase 2 Levodopa/carbidopa
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 Not Applicable Primaquine;delayed primaquine
14 Efficacy and Safety Evaluation of HCPA-1 Silicone Stent in the Treatment of Central Airway Obstructions Unknown status NCT01389531 Not Applicable
15 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
16 Adapted Safe Childbirth Checklist in Chiapas, Mexico Completed NCT02886364 Not Applicable
17 Multi-center Trial of Goal-directed Fluid Management Based on Pulse Pressure Variation Monitoring Completed NCT03128190 Not Applicable
18 The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism Recruiting NCT02200263 Not Applicable
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 Ureteral Stenting After Ureteroscopy for Stone Treatment, A Global Perspective on Indications and Outcomes Recruiting NCT03567421
24 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520
25 Screening Protocol for Genetic Diseases of Allergic Inflammation Recruiting NCT00852943
26 BEhavioral EConomics for Oral Health iNnovation Trial Recruiting NCT03576326 Not Applicable
27 AdaptResponse Clinical Trial Recruiting NCT02205359 Not Applicable

Search NIH Clinical Center for Albinism

Genetic Tests for Albinism

Genetic tests related to Albinism:

# Genetic test Affiliating Genes
1 Albinism 29

Anatomical Context for Albinism

MalaCards organs/tissues related to Albinism:

41
Skin, Eye, Testes, Brain, Bone, Nk Cells, Cortex

Publications for Albinism

Articles related to Albinism:

(show top 50) (show all 849)
# Title Authors Year
1
Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting. ( 28976636 )
2018
2
Retinal detachment in albinism. ( 29670325 )
2018
3
Identification of TYR mutations in patients with oculocutaneous albinism. ( 29658579 )
2018
4
Children with albinism in African regions: their rights to 'being' and 'doing'. ( 29329540 )
2018
5
Oculocutaneous albinism with iridofundal coloboma. ( 29374654 )
2018
6
Molecular characterization of a series of 990 index patients with albinism. ( 29345414 )
2018
7
Corrigendum: Proteome and Acetyl-Proteome Profiling of<i>Camellia sinensis</i>cv. 'Anji Baicha' during Periodic Albinism Reveals Alterations in Photosynthetic and Secondary Metabolite Biosynthetic Pathways. ( 29443326 )
2018
8
Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing. ( 29437493 )
2018
9
Visual Development During the Second Decade of Life in Albinism. ( 29809263 )
2018
10
Multiple Basal Cell Carcinomas in a Patient of Oculocutaneous Albinism. ( 28405556 )
2017
11
Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. ( 27720922 )
2017
12
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
13
Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study. ( 28555837 )
2017
14
Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism. ( 28632878 )
2017
15
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. ( 28739598 )
2017
16
Blood serum retinol levels in Asinara white donkeys reflect albinism-induced metabolic adaptation to photoperiod at Mediterranean latitudes. ( 28070301 )
2017
17
Quantitative Succinyl-Proteome Profiling of Camellia sinensis cv. 'Anji Baicha' During Periodic Albinism. ( 28500349 )
2017
18
Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism. ( 28211458 )
2017
19
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle. ( 28982372 )
2017
20
[Diagnosis of a case with oculocutaneous albinism type a8c with next generation exome capture sequencing]. ( 28186599 )
2017
21
Proteome and Acetyl-Proteome Profiling of<i>Camellia sinensis</i>cv. 'Anjin Baicha' during Periodic Albinism Reveals Alterations in Photosynthetic and Secondary Metabolite Biosynthetic Pathways. ( 29312376 )
2017
22
GPR143 mutations in Chinese patients with ocular albinism type 1. ( 28339057 )
2017
23
Proposal for management and dermoscopy follow-up of nevi in patients affected by oculocutaneous albinism type Ia. ( 28243493 )
2017
24
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish. ( 28289846 )
2017
25
Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing. ( 28507374 )
2017
26
OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. ( 28973042 )
2017
27
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1. ( 28112372 )
2017
28
Neglected tumor in a female with albinism. ( 29610633 )
2017
29
Assessment of molecular and epigenetic changes in the albinism of Agave angustifolia Haw. ( 28818371 )
2017
30
DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ( 28234808 )
2017
31
Altered whole-brain connectivity in albinism. ( 27684406 )
2017
32
[Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism]. ( 28397224 )
2017
33
[Oculocutaneous and ocular albinism]. ( 29018889 )
2017
34
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. ( 28854565 )
2017
35
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). ( 28667292 )
2017
36
Computational analysis of histidine mutations on the structural stability of human tyrosinases leading to albinism insurgence. ( 28640309 )
2017
37
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. ( 28144890 )
2017
38
Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 28546946 )
2017
39
Failed Pneumatic Retinopexy for Rhegmatogenous Retinal Detachment Repair in Ocular Albinism: Clues to the Role of Melanin in Retinal Pigment Epithelium Pump Function. ( 29253306 )
2017
40
The integrated analysis of RNA-seq and microRNA-seq depicts miRNA-mRNA networks involved in Japanese flounder (Paralichthys olivaceus) albinism. ( 28777813 )
2017
41
A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella). ( 28476152 )
2017
42
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. ( 28266639 )
2017
43
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. ( 28737247 )
2017
44
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
45
Mutational analysis of a Chinese family with oculocutaneous albinism type 2. ( 29050284 )
2017
46
A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4. ( 28192564 )
2017
47
Surgical challenges and outcomes of rhegmatogenous retinal detachment in albinism. ( 26611845 )
2016
48
A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism. ( 27462254 )
2016
49
Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood. 1959;14(2):162-169. ( 27056989 )
2016
50
Isolation and dynamic expression of four genes involving in shikimic acid pathway in Camellia sinensis 'Baicha 1' during periodic albinism. ( 27553670 )
2016

Variations for Albinism

ClinVar genetic disease variations for Albinism:

6
(show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 TYR NM_000372.4(TYR): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs28940876 GRCh37 Chromosome 11, 88911363: 88911363
2 TYR NM_000372.4(TYR): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs28940876 GRCh38 Chromosome 11, 89178195: 89178195
3 TYR NM_000372.4(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 GRCh37 Chromosome 11, 88911386: 88911386
4 TYR NM_000372.4(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 GRCh38 Chromosome 11, 89178218: 89178218
5 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh37 Chromosome 11, 88911122: 88911122
6 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh38 Chromosome 11, 89177954: 89177954
7 TYRP1 NM_000550.2(TYRP1): c.1103delA (p.Lys368Serfs) deletion Pathogenic rs387906560 GRCh37 Chromosome 9, 12704547: 12704547
8 TYRP1 NM_000550.2(TYRP1): c.1103delA (p.Lys368Serfs) deletion Pathogenic rs387906560 GRCh38 Chromosome 9, 12704547: 12704547
9 GPR143 NM_000273.2(GPR143): c.874T> G (p.Trp292Gly) single nucleotide variant Likely pathogenic rs62635045 GRCh37 Chromosome X, 9709389: 9709389
10 GPR143 NM_000273.2(GPR143): c.874T> G (p.Trp292Gly) single nucleotide variant Likely pathogenic rs62635045 GRCh38 Chromosome X, 9741349: 9741349
11 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984
12 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh38 Chromosome 11, 89227816: 89227816
13 TYR NM_000372.4(TYR): c.325G> A (p.Gly109Arg) single nucleotide variant Likely pathogenic rs61753253 GRCh37 Chromosome 11, 88911446: 88911446
14 TYR NM_000372.4(TYR): c.325G> A (p.Gly109Arg) single nucleotide variant Likely pathogenic rs61753253 GRCh38 Chromosome 11, 89178278: 89178278
15 OCA2 NM_000275.2(OCA2): c.1025A> G (p.Tyr342Cys) single nucleotide variant Likely pathogenic rs142931246 GRCh38 Chromosome 15, 28014795: 28014795
16 OCA2 NM_000275.2(OCA2): c.1025A> G (p.Tyr342Cys) single nucleotide variant Likely pathogenic rs142931246 GRCh37 Chromosome 15, 28259941: 28259941
17 TYRP1 NM_000550.2(TYRP1): c.1261+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs140365820 GRCh38 Chromosome 9, 12704706: 12704706
18 TYRP1 NM_000550.2(TYRP1): c.1261+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs140365820 GRCh37 Chromosome 9, 12704706: 12704706
19 OCA2 NM_000275.2(OCA2): c.2339G> A (p.Gly780Asp) single nucleotide variant Likely pathogenic rs141949212 GRCh37 Chromosome 15, 28090198: 28090198
20 OCA2 NM_000275.2(OCA2): c.2339G> A (p.Gly780Asp) single nucleotide variant Likely pathogenic rs141949212 GRCh38 Chromosome 15, 27845052: 27845052
21 TYR NM_000372.4(TYR): c.1264C> T (p.Arg422Trp) single nucleotide variant Likely pathogenic rs749979474 GRCh38 Chromosome 11, 89284852: 89284852
22 TYR NM_000372.4(TYR): c.1264C> T (p.Arg422Trp) single nucleotide variant Likely pathogenic rs749979474 GRCh37 Chromosome 11, 89018020: 89018020
23 OCA2 NM_000275.2(OCA2): c.1660T> C (p.Trp554Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 27957712: 27957712
24 OCA2 NM_000275.2(OCA2): c.1660T> C (p.Trp554Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 28202858: 28202858
25 GPR143 NM_000273.2(GPR143): c.779A> G (p.Asn260Ser) single nucleotide variant Likely pathogenic rs62635042 GRCh37 Chromosome X, 9709484: 9709484
26 GPR143 NM_000273.2(GPR143): c.779A> G (p.Asn260Ser) single nucleotide variant Likely pathogenic rs62635042 GRCh38 Chromosome X, 9741444: 9741444
27 OCA2 NC_000015.9: g.28262865_28265823del2959 deletion Likely pathogenic GRCh37 Chromosome 15, 28262865: 28265823
28 TYR NM_000372.4(TYR): c.1352A> G (p.Tyr451Cys) single nucleotide variant Likely pathogenic rs376823382 GRCh38 Chromosome 11, 89284940: 89284940
29 TYR NM_000372.4(TYR): c.1352A> G (p.Tyr451Cys) single nucleotide variant Likely pathogenic rs376823382 GRCh37 Chromosome 11, 89018108: 89018108
30 NRL NM_006177.4(NRL): c.448_466dup (p.Glu156Alafs) duplication Uncertain significance GRCh38 Chromosome 14, 24081484: 24081502
31 NRL NM_006177.4(NRL): c.448_466dup (p.Glu156Alafs) duplication Uncertain significance GRCh37 Chromosome 14, 24550693: 24550711

Expression for Albinism

Search GEO for disease gene expression data for Albinism.

Pathways for Albinism

Pathways related to Albinism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.57 MC1R MITF
2 9.62 OCA2 SLC45A2 TYR TYRP1

GO Terms for Albinism

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.56 GPR143 HPS1 HPS4 TYR
2 endosome membrane GO:0010008 9.5 AP3D1 OCA2 TYRP1
3 axon cytoplasm GO:1904115 9.37 AP3D1 BLOC1S3
4 melanosome GO:0042470 9.35 GPR143 HPS4 SLC24A5 TYR TYRP1
5 BLOC-3 complex GO:0031085 9.16 HPS1 HPS4
6 melanosome membrane GO:0033162 9.02 GPR143 OCA2 SLC45A2 TYR TYRP1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.67 GPR143 HPS1 SLC45A2 TYR
2 melanosome organization GO:0032438 9.62 AP3D1 BLOC1S3 GPR143 TYRP1
3 melanin biosynthetic process GO:0042438 9.56 OCA2 SLC45A2 TYR TYRP1
4 lysosome organization GO:0007040 9.52 HPS1 HPS4
5 anterograde axonal transport GO:0008089 9.51 AP3D1 BLOC1S3
6 melanosome transport GO:0032402 9.49 BLOC1S3 GPR143
7 anterograde synaptic vesicle transport GO:0048490 9.48 AP3D1 BLOC1S3
8 developmental pigmentation GO:0048066 9.46 OCA2 SLC45A2
9 eye pigment biosynthetic process GO:0006726 9.46 AP3D1 GPR143 OCA2 TYR
10 endosome to melanosome transport GO:0035646 9.43 AP3D1 BLOC1S3
11 melanosome assembly GO:1903232 9.4 HPS1 HPS4
12 melanocyte differentiation GO:0030318 9.35 HPS4 LRMDA MITF OCA2 TYRP1
13 pigmentation GO:0043473 9.1 BLOC1S3 MC1R MITF OCA2 TYR TYRP1

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

# Name GO ID Score Top Affiliating Genes
1 protein dimerization activity GO:0046983 8.8 HPS1 HPS4 MITF

Sources for Albinism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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