MCID: ALB002
MIFTS: 47

Albinism

Categories: Eye diseases, Metabolic diseases, Rare 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 late-onset sensorineural deafness and albinism, ocular, with sensorineural deafness. An important gene associated with Albinism is TYR (Tyrosinase), and among its related pathways/superpathways are Cushing syndrome and Melanocyte Development and Pigmentation. The drugs Estradiol and Medroxyprogesterone acetate have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and retina, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 76 Albinism is the "congenital absence of any pigmentation or coloration in a person, animal or plant,... more...

Related Diseases for Albinism

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

(show top 50) (show all 201)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, with late-onset sensorineural deafness 34.2 MITF TYR
2 albinism, ocular, with sensorineural deafness 34.1 MITF TYR
3 albinism, oculocutaneous, type iii 33.9 LRMDA OCA2 SLC45A2 TYR TYRP1
4 tietz albinism-deafness syndrome 33.9 MITF TYR
5 albinism, oculocutaneous, type ia 33.7 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
6 albinism, oculocutaneous, type ib 33.7 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
7 ocular albinism 33.5 GPR143 MITF OCA2 SLC45A2 TYR TYRP1
8 albinism, oculocutaneous, type ii 33.5 MC1R OCA2 SLC24A5 SLC45A2 TYR TYRP1
9 albinism, oculocutaneous, type vii 33.3 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
10 albinism, oculocutaneous, type v 33.3 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
11 albinism, oculocutaneous, type iv 33.1 GPR143 LRMDA MITF OCA2 SLC24A5 SLC45A2
12 chediak-higashi syndrome 33.0 HPS1 TYR TYRP1
13 hermansky-pudlak syndrome 3 32.5 MITF TYR TYRP1
14 hermansky-pudlak syndrome 32.4 AP3D1 BLOC1S3 HPS1 HPS4 TYR TYRP1
15 oculocutaneous albinism 32.3 BLOC1S3 HPS1 HPS4 LRMDA MC1R OCA2
16 piebald trait 32.2 MITF TYR
17 hermansky-pudlak syndrome 1 32.0 HPS1 HPS4 OCA2 SLC24A5 SLC45A2 TYR
18 waardenburg's syndrome 31.0 MITF TYR TYRP1
19 amelanotic melanoma 30.4 TYR TYRP1
20 pathologic nystagmus 30.1 GPR143 OCA2 SLC45A2 TYR
21 waardenburg syndrome, type 1 30.0 MITF TYR
22 hermansky-pudlak syndrome with pulmonary fibrosis 30.0 HPS1 HPS4
23 congenital nystagmus 29.9 GPR143 MC1R OCA2 TYR
24 strabismus 29.8 GPR143 SLC24A5 TYR TYRP1
25 microphthalmia 29.7 MC1R MITF TYR TYRP1
26 storage pool platelet disease 29.6 BLOC1S3 HPS4
27 albinism, ocular, type i 12.6
28 albinism, oculocutaneous, type vi 12.5
29 ocular albinism, x-linked 12.4
30 albinism-deafness syndrome 12.4
31 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.3
32 albinism-microcephaly-digital anomalies syndrome 12.3
33 minimal pigment oculocutaneous albinism type 1 12.0
34 griscelli syndrome 12.0
35 aland island eye disease 12.0
36 albinism, minimal pigment type 12.0
37 hermansky-pudlak syndrome 2 11.9
38 abcd syndrome 11.9
39 deafness, congenital, with total albinism 11.9
40 hermansky-pudlak syndrome 4 11.8
41 hermansky-pudlak syndrome 7 11.8
42 hermansky-pudlak syndrome 8 11.8
43 hermansky-pudlak syndrome 9 11.8
44 hermansky-pudlak syndrome 6 11.8
45 hermansky-pudlak syndrome 5 11.7
46 foveal hypoplasia 2 11.6
47 griscelli syndrome, type 2 11.5
48 griscelli syndrome, type 1 11.4
49 kotzot-richter syndrome 11.4
50 ermine phenotype 11.2

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 AP3D1 BLOC1S3 LRMDA MC1R MITF OCA2
2 growth/size/body region MP:0005378 10.22 AP3D1 BLOC1S3 HPS1 HPS4 MC1R MITF
3 cellular MP:0005384 10.16 AP3D1 BLOC1S3 HPS1 HPS4 MC1R MITF
4 hearing/vestibular/ear MP:0005377 10.16 AP3D1 BLOC1S3 HPS1 HPS4 MC1R MITF
5 craniofacial MP:0005382 10.15 BLOC1S3 HPS1 HPS4 MC1R MITF OCA2
6 integument MP:0010771 10.11 AP3D1 BLOC1S3 HPS1 HPS4 MC1R MITF
7 homeostasis/metabolism MP:0005376 10.1 AP3D1 HPS1 HPS4 LRMDA MITF OCA2
8 hematopoietic system MP:0005397 10.09 AP3D1 BLOC1S3 HPS1 HPS4 LRMDA MC1R
9 pigmentation MP:0001186 9.93 AP3D1 BLOC1S3 GPR143 HPS1 HPS4 MC1R
10 limbs/digits/tail MP:0005371 9.8 BLOC1S3 HPS1 MC1R MITF OCA2 TYR
11 no phenotypic analysis MP:0003012 9.65 HPS1 MC1R MITF OCA2 TYR
12 vision/eye MP:0005391 9.36 AP3D1 BLOC1S3 GPR143 HPS1 HPS4 MITF
13 renal/urinary system MP:0005367 9.35 AP3D1 HPS1 HPS4 OCA2 TYR

Drugs & Therapeutics for Albinism

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

(show top 50) (show all 89)
# 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 Estradiol valerate Approved, Investigational, Vet_approved Phase 4 979-32-8
4
Polyestradiol phosphate Approved Phase 4 28014-46-2
5
Metformin Approved Phase 4 657-24-9 14219 4091
6
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538 444795
7 Contraceptive Agents, Male Phase 4
8 Estradiol 17 beta-cypionate Phase 4
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2
10 Antineoplastic Agents, Hormonal Phase 4
11 Estradiol 3-benzoate Phase 4
12 Contraceptive Agents Phase 4
13 Contraceptives, Oral Phase 4
14 Hormone Antagonists Phase 4,Phase 1,Phase 2
15 Estrogens Phase 4
16 Hormones Phase 4,Phase 1,Phase 2
17
Medroxyprogesterone Phase 4 520-85-4 10631
18 Hypoglycemic Agents Phase 4
19 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1
20
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741
21
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
22
Allopurinol Approved Phase 3 315-30-0 2094
23 Immunologic Factors Phase 3,Phase 2
24 Adjuvants, Immunologic Phase 3
25 Viscosupplements Phase 3
26 Protective Agents Phase 3,Phase 2,Phase 1
27 Antirheumatic Agents Phase 3,Phase 2,Phase 1
28 diuretics Phase 3
29 Antioxidants Phase 3,Phase 1,Phase 2
30 Antimetabolites Phase 3,Phase 1,Phase 2
31 Natriuretic Agents Phase 3
32 Free Radical Scavengers Phase 3,Phase 1,Phase 2
33
Levodopa Approved Phase 2 59-92-7 6047
34
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
35
Nitisinone Approved, Investigational Phase 1, Phase 2 104206-65-7 115355
36
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
37
Carbidopa Approved Phase 2 28860-95-9 34359 38101
38
Angiotensin II Approved, Investigational Phase 1, Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
39
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560
40
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
41
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
42
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
43 Anti-Infective Agents Phase 1, Phase 2,Not Applicable
44 Neurotransmitter Agents Phase 2
45 Antiparkinson Agents Phase 2
46 Dihydroxyphenylalanine Phase 2
47 Dopamine Agents Phase 2
48 Anti-Inflammatory Agents Phase 2,Phase 1
49 Analgesics Phase 2,Phase 1
50 Analgesics, Non-Narcotic Phase 2,Phase 1

Interventional clinical trials:

(show all 28)
# 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 The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism Completed NCT02200263 Not Applicable
16 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
17 Adapted Safe Childbirth Checklist in Chiapas, Mexico Completed NCT02886364 Not Applicable
18 Multi-center Trial of Goal-directed Fluid Management Based on Pulse Pressure Variation Monitoring Completed NCT03128190 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
28 Comparison of CRT-D and CRT-DX Systems (CRT-NEXT) Recruiting NCT03587064 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
Eye, Skin, Retina, Testes, Brain, Bone, Breast

Publications for Albinism

Articles related to Albinism:

(show top 50) (show all 1034)
# 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
Daylight Photodynamic Therapy in the Treatment of Actinic Keratosis in Carriers of Oculocutaneous Albinism: Report of Three Cases. ( 30458957 )
2018
11
The Phenotypic Spectrum of Albinism. ( 30098354 )
2018
12
Ocular albinism with infertility and late-onset sensorineural hearing loss. ( 30160833 )
2018
13
In silico screening of deleterious single nucleotide polymorphisms (SNPs) and molecular dynamics simulation of disease associated mutations in gene responsible for Oculocutaneous Albinism type 6 (OCA 6) disorder. ( 30204049 )
2018
14
Burden of albinism: development and validation of a burden assessment tool. ( 30227882 )
2018
15
RETRACTED ARTICLE: Albinism and mosaicism in Apocynum venetum associated with viral infections in China. ( 30267156 )
2018
16
Functional validation of the albinism-associated tyrosinase T373K SNP by CRISPR/Cas9-mediated homology-directed repair (HDR) in rabbits. ( 30274819 )
2018
17
First report of partial albinism in the blue lobster Panulirusinflatus (Bouvier, 1895) from the Mexican Pacific (Crustacea, Decapoda, Palinuridae). ( 30279630 )
2018
18
Beliefs about people with albinism in Uganda: A qualitative study using the Common-Sense Model. ( 30312349 )
2018
19
Changes in refractive errors in albinism: a longitudinal study over the first decade of life. ( 30343058 )
2018
20
Corrigendum: Neglected tumor in a female with albinism. ( 30344847 )
2018
21
Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3. ( 30347088 )
2018
22
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. ( 30369044 )
2018
23
The Henle Fiber Layer in Albinism: Comparison to Normal and Relationship to Outer Nuclear Layer Thickness and Foveal Cone Density. ( 30398625 )
2018
24
A 40-Year-Old Man With Albinism and Progressive Dyspnea. ( 30409369 )
2018
25
The Molecular Basis of Chemical Chaperone Therapy for Oculocutaneous Albinism Type 1A. ( 30447237 )
2018
26
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene. ( 30472657 )
2018
27
Aberrant visual pathway development in albinism: From retina to cortex. ( 30511784 )
2018
28
Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143. ( 30513407 )
2018
29
Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism. ( 30541351 )
2018
30
Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability. ( 30555098 )
2018
31
Multiple Basal Cell Carcinomas in a Patient of Oculocutaneous Albinism. ( 28405556 )
2017
32
Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. ( 27720922 )
2017
33
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
34
Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study. ( 28555837 )
2017
35
Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism. ( 28632878 )
2017
36
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. ( 28739598 )
2017
37
Blood serum retinol levels in Asinara white donkeys reflect albinism-induced metabolic adaptation to photoperiod at Mediterranean latitudes. ( 28070301 )
2017
38
Quantitative Succinyl-Proteome Profiling of Camellia sinensis cv. 'Anji Baicha' During Periodic Albinism. ( 28500349 )
2017
39
Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism. ( 28211458 )
2017
40
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle. ( 28982372 )
2017
41
[Diagnosis of a case with oculocutaneous albinism type a8c with next generation exome capture sequencing]. ( 28186599 )
2017
42
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
43
GPR143 mutations in Chinese patients with ocular albinism type 1. ( 28339057 )
2017
44
Author Response: Comment on &amp;quot;Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism&amp;quot;. ( 28910827 )
2017
45
Proposal for management and dermoscopy follow-up of nevi in patients affected by oculocutaneous albinism type Ia. ( 28243493 )
2017
46
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish. ( 28289846 )
2017
47
Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing. ( 28507374 )
2017
48
OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. ( 28973042 )
2017
49
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1. ( 28112372 )
2017
50
Neglected tumor in a female with albinism. ( 29610633 )
2017

Variations for Albinism

ClinVar genetic disease variations for Albinism:

6 (show all 33)
# 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.1205G> A (p.Arg402Gln) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1126809 GRCh37 Chromosome 11, 89017961: 89017961
4 TYR NM_000372.4(TYR): c.1205G> A (p.Arg402Gln) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1126809 GRCh38 Chromosome 11, 89284793: 89284793
5 TYR NM_000372.4(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 GRCh37 Chromosome 11, 88911386: 88911386
6 TYR NM_000372.4(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 GRCh38 Chromosome 11, 89178218: 89178218
7 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh37 Chromosome 11, 88911122: 88911122
8 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh38 Chromosome 11, 89177954: 89177954
9 TYRP1 NM_000550.2(TYRP1): c.1103delA (p.Lys368Serfs) deletion Pathogenic rs387906560 GRCh37 Chromosome 9, 12704547: 12704547
10 TYRP1 NM_000550.2(TYRP1): c.1103delA (p.Lys368Serfs) deletion Pathogenic rs387906560 GRCh38 Chromosome 9, 12704547: 12704547
11 GPR143 NM_000273.2(GPR143): c.874T> G (p.Trp292Gly) single nucleotide variant Likely pathogenic rs62635045 GRCh37 Chromosome X, 9709389: 9709389
12 GPR143 NM_000273.2(GPR143): c.874T> G (p.Trp292Gly) single nucleotide variant Likely pathogenic rs62635045 GRCh38 Chromosome X, 9741349: 9741349
13 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984
14 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh38 Chromosome 11, 89227816: 89227816
15 TYR NM_000372.4(TYR): c.325G> A (p.Gly109Arg) single nucleotide variant Likely pathogenic rs61753253 GRCh37 Chromosome 11, 88911446: 88911446
16 TYR NM_000372.4(TYR): c.325G> A (p.Gly109Arg) single nucleotide variant Likely pathogenic rs61753253 GRCh38 Chromosome 11, 89178278: 89178278
17 OCA2 NM_000275.2(OCA2): c.1025A> G (p.Tyr342Cys) single nucleotide variant Likely pathogenic rs142931246 GRCh38 Chromosome 15, 28014795: 28014795
18 OCA2 NM_000275.2(OCA2): c.1025A> G (p.Tyr342Cys) single nucleotide variant Likely pathogenic rs142931246 GRCh37 Chromosome 15, 28259941: 28259941
19 TYRP1 NM_000550.2(TYRP1): c.1261+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs140365820 GRCh37 Chromosome 9, 12704706: 12704706
20 TYRP1 NM_000550.2(TYRP1): c.1261+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs140365820 GRCh38 Chromosome 9, 12704706: 12704706
21 OCA2 NM_000275.2(OCA2): c.2339G> A (p.Gly780Asp) single nucleotide variant Likely pathogenic rs141949212 GRCh37 Chromosome 15, 28090198: 28090198
22 OCA2 NM_000275.2(OCA2): c.2339G> A (p.Gly780Asp) single nucleotide variant Likely pathogenic rs141949212 GRCh38 Chromosome 15, 27845052: 27845052
23 TYR NM_000372.4(TYR): c.1264C> T (p.Arg422Trp) single nucleotide variant Likely pathogenic rs749979474 GRCh38 Chromosome 11, 89284852: 89284852
24 TYR NM_000372.4(TYR): c.1264C> T (p.Arg422Trp) single nucleotide variant Likely pathogenic rs749979474 GRCh37 Chromosome 11, 89018020: 89018020
25 OCA2 NM_000275.2(OCA2): c.1660T> C (p.Trp554Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 27957712: 27957712
26 OCA2 NM_000275.2(OCA2): c.1660T> C (p.Trp554Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 28202858: 28202858
27 GPR143 NM_000273.2(GPR143): c.779A> G (p.Asn260Ser) single nucleotide variant Likely pathogenic rs62635042 GRCh37 Chromosome X, 9709484: 9709484
28 GPR143 NM_000273.2(GPR143): c.779A> G (p.Asn260Ser) single nucleotide variant Likely pathogenic rs62635042 GRCh38 Chromosome X, 9741444: 9741444
29 OCA2 NC_000015.9: g.28262865_28265823del2959 deletion Likely pathogenic GRCh37 Chromosome 15, 28262865: 28265823
30 TYR NM_000372.4(TYR): c.1352A> G (p.Tyr451Cys) single nucleotide variant Likely pathogenic rs376823382 GRCh38 Chromosome 11, 89284940: 89284940
31 TYR NM_000372.4(TYR): c.1352A> G (p.Tyr451Cys) single nucleotide variant Likely pathogenic rs376823382 GRCh37 Chromosome 11, 89018108: 89018108
32 NRL NM_006177.4(NRL): c.448_466dup (p.Glu156Alafs) duplication Uncertain significance GRCh38 Chromosome 14, 24081484: 24081502
33 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
Show member pathways
11.66 MC1R MITF TYR TYRP1
2 10.77 MC1R MITF
3 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 9.71 GPR143 HPS1 SLC45A2 TYR
2 melanosome organization GO:0032438 9.62 AP3D1 BLOC1S3 GPR143 TYRP1
3 eye pigment biosynthetic process GO:0006726 9.56 AP3D1 GPR143 OCA2 TYR
4 melanocyte differentiation GO:0030318 9.55 HPS4 LRMDA MITF OCA2 TYRP1
5 developmental pigmentation GO:0048066 9.54 BLOC1S3 OCA2 SLC45A2
6 lysosome organization GO:0007040 9.52 HPS1 HPS4
7 anterograde axonal transport GO:0008089 9.51 AP3D1 BLOC1S3
8 melanosome transport GO:0032402 9.49 BLOC1S3 GPR143
9 anterograde synaptic vesicle transport GO:0048490 9.48 AP3D1 BLOC1S3
10 endosome to melanosome transport GO:0035646 9.46 AP3D1 BLOC1S3
11 melanosome assembly GO:1903232 9.43 HPS1 HPS4
12 melanin biosynthetic process GO:0042438 9.35 MC1R OCA2 SLC45A2 TYR 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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