MCID: ALB002
MIFTS: 48

Albinism

Categories: Eye diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Albinism

MalaCards integrated aliases for Albinism:

Name: Albinism 77 54 30 56 6

Classifications:



External Ids:

ICD10 34 E70.3

Summaries for Albinism

NIH Rare Diseases : 54 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 Melanocyte Development and Pigmentation and Melanin biosynthesis. The drugs Medroxyprogesterone acetate and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 77 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 228)
# Related Disease Score Top Affiliating Genes
1 albinism, ocular, with late-onset sensorineural deafness 34.4 MITF TYR
2 albinism, ocular, with sensorineural deafness 34.2 MITF TYR
3 tietz albinism-deafness syndrome 34.0 MITF TYR
4 albinism, oculocutaneous, type iii 33.9 LRMDA OCA2 SLC45A2 TYR TYRP1
5 albinism, oculocutaneous, type ia 33.5 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
6 albinism, oculocutaneous, type ib 33.5 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
7 albinism, oculocutaneous, type ii 33.4 MC1R OCA2 SLC24A5 SLC45A2 TYR TYRP1
8 ocular albinism 33.4 GPR143 MITF OCA2 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 chediak-higashi syndrome 33.0 HPS1 TYR TYRP1
12 albinism, oculocutaneous, type iv 32.8 GPR143 LRMDA MITF OCA2 SLC24A5 SLC45A2
13 hermansky-pudlak syndrome 3 32.6 MITF TYR TYRP1
14 piebald trait 32.6 MITF TYR
15 hermansky-pudlak syndrome 1 31.9 HPS1 HPS4 OCA2 SLC24A5 SLC45A2 TYR
16 hermansky-pudlak syndrome 31.7 AP3D1 BLOC1S3 HPS1 HPS4 TYR TYRP1
17 oculocutaneous albinism 31.4 BLOC1S3 HPS1 HPS4 LRMDA MC1R OCA2
18 waardenburg's syndrome 31.1 MITF TYR TYRP1
19 pathologic nystagmus 30.7 GPR143 OCA2 SLC45A2 TYR
20 amelanotic melanoma 30.5 TYR TYRP1
21 waardenburg syndrome, type 2a 30.2 MITF TYR TYRP1
22 waardenburg syndrome, type 1 30.1 MITF TYR
23 congenital nystagmus 30.1 GPR143 MC1R OCA2 TYR
24 hermansky-pudlak syndrome with pulmonary fibrosis 30.0 HPS1 HPS4
25 microphthalmia 29.8 MC1R MITF TYR TYRP1
26 strabismus 29.8 GPR143 SLC24A5 TYR TYRP1
27 vitiligo-associated multiple autoimmune disease susceptibility 1 29.6 MC1R MITF TYR TYRP1
28 storage pool platelet disease 29.4 BLOC1S3 HPS4
29 albinism, ocular, type i 12.7
30 albinism, oculocutaneous, type vi 12.6
31 albinism-deafness syndrome 12.5
32 ocular albinism, x-linked 12.5
33 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.4
34 albinism-microcephaly-digital anomalies syndrome 12.3
35 hermansky-pudlak syndrome 2 12.1
36 minimal pigment oculocutaneous albinism type 1 12.1
37 griscelli syndrome 12.0
38 aland island eye disease 12.0
39 albinism, minimal pigment type 12.0
40 abcd syndrome 12.0
41 deafness, congenital, with total albinism 12.0
42 hermansky-pudlak syndrome 4 11.9
43 hermansky-pudlak syndrome 5 11.9
44 foveal hypoplasia 2 11.9
45 hermansky-pudlak syndrome 6 11.8
46 hermansky-pudlak syndrome 7 11.8
47 hermansky-pudlak syndrome 8 11.8
48 hermansky-pudlak syndrome 9 11.8
49 griscelli syndrome, type 2 11.5
50 griscelli syndrome, type 1 11.4

Graphical network of the top 20 diseases related to Albinism:



Diseases related to Albinism

Symptoms & Phenotypes for Albinism

MGI Mouse Phenotypes related to Albinism:

47 (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 hematopoietic system MP:0005397 10.09 AP3D1 BLOC1S3 HPS1 HPS4 LRMDA MC1R
8 homeostasis/metabolism MP:0005376 10.06 AP3D1 HPS1 HPS4 MITF OCA2 SLC24A5
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 143)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Medroxyprogesterone acetate Approved, Investigational Phase 4 71-58-9
2
Polyestradiol phosphate Approved Phase 4 28014-46-2
3
Metformin Approved Phase 4 657-24-9 14219 4091
4
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
5
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 444795 5538
6 Hormones Phase 4,Phase 1,Phase 2,Not Applicable
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable
8 Estradiol 3-benzoate Phase 4
9
Medroxyprogesterone Phase 4 520-85-4 10631
10 Antineoplastic Agents, Hormonal Phase 4,Not Applicable
11 Contraceptives, Oral Phase 4
12 Hypoglycemic Agents Phase 4
13 Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable
14 Contraceptive Agents Phase 4
15 Contraceptive Agents, Male Phase 4
16 Estradiol 17 beta-cypionate Phase 4
17 Estrogens Phase 4
18 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1
19
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741
20
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Not Applicable 50-18-0, 6055-19-2 2907
21
Busulfan Approved, Investigational Phase 2, Phase 3,Not Applicable 55-98-1 2478
22
Mannitol Approved, Investigational Phase 3 69-65-8 6251 453
23
Allopurinol Approved Phase 3 315-30-0 2094
24 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable
25 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
26 Adjuvants, Immunologic Phase 3
27 Viscosupplements Phase 3
28 Antimetabolites Phase 3,Phase 2,Phase 1,Not Applicable
29 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Not Applicable
30 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
31 Alkylating Agents Phase 2, Phase 3,Not Applicable
32 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
33 Free Radical Scavengers Phase 3,Phase 1,Phase 2
34 Natriuretic Agents Phase 3
35 Antioxidants Phase 3,Phase 1,Phase 2
36 diuretics Phase 3
37 Thymoglobulin Phase 2, Phase 3
38
Carbidopa Approved Phase 2 28860-95-9 34359
39
Levodopa Approved Phase 2 59-92-7 6047
40
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
41
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
42
Nitisinone Approved, Investigational Phase 1, Phase 2 104206-65-7 115355
43
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
44
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
45
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
46
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
47
Fludarabine Approved Phase 2,Not Applicable 75607-67-9, 21679-14-1 30751
48
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
49
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
50
Angiotensin II Approved, Investigational Phase 1, Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198

Interventional clinical trials:

(show all 39)
# 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 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Terminated NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
8 Vision Response to Dopamine Replacement Unknown status NCT01663935 Phase 2 Levodopa/carbidopa
9 Trial of L-DOPA as a Treatment to Improve Vision in Albinism Completed NCT01176435 Phase 2 Levodopa;Levodopa;Placebo
10 Nitisinone for Type 1B Oculocutaneous Albinism Completed NCT01838655 Phase 1, Phase 2 Nitisinone
11 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
12 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
13 Stem Cell Transplant for Immunologic or Histiocytic Disorders Completed NCT00176865 Phase 2 Fludarabine;Melphalan;Anti-thymocyte globulin (ATG);Campath 1H;Cyclosporin A;Mycophenolate mofetil;Intravenous immunoglobulin (IVIG)
14 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
15 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
16 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
17 BMT Abatacept for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
18 Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders Unknown status NCT00006056 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;filgrastim;methotrexate
19 Safety and Efficacy of Primaquine for P. Vivax Unknown status NCT01837992 Not Applicable Primaquine;delayed primaquine
20 Efficacy and Safety Evaluation of HCPA-1 Silicone Stent in the Treatment of Central Airway Obstructions Unknown status NCT01389531 Not Applicable
21 The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism Completed NCT02200263 Not Applicable
22 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
23 Adapted Safe Childbirth Checklist in Chiapas, Mexico Completed NCT02886364 Not Applicable
24 Multi-center Trial of Goal-directed Fluid Management Based on Pulse Pressure Variation Monitoring Completed NCT03128190 Not Applicable
25 Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders Completed NCT00005933
26 Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Recruiting NCT00808106
27 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
28 Study of Chediak-Higashi Syndrome Recruiting NCT00005917
29 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
30 Ureteral Stenting After Ureteroscopy for Stone Treatment, A Global Perspective on Indications and Outcomes Recruiting NCT03567421
31 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520
32 Procurement and Analysis of Specimens From Individuals With Pulmonary Fibrosis Recruiting NCT00084305
33 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Not Applicable Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
34 Screening Protocol for Genetic Diseases of Allergic Inflammation Recruiting NCT00852943
35 BEhavioral EConomics for Oral Health iNnovation Trial Recruiting NCT03576326 Not Applicable
36 Comparison of CRT-D and CRT-DX Systems (CRT-NEXT) Recruiting NCT03587064 Not Applicable
37 Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children Not yet recruiting NCT03959605
38 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Not Applicable Alefacept
39 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone

Search NIH Clinical Center for Albinism

Genetic Tests for Albinism

Genetic tests related to Albinism:

# Genetic test Affiliating Genes
1 Albinism 30

Anatomical Context for Albinism

MalaCards organs/tissues related to Albinism:

42
Skin, Eye, Retina, Bone, Testes, Brain, Bone Marrow

Publications for Albinism

Articles related to Albinism:

(show top 50) (show all 1130)
# Title Authors Year
1
RETRACTED ARTICLE: Albinism and mosaicism in Apocynum venetum associated with viral infections in China. ( 30267156 )
2019
2
The Molecular Basis of Chemical Chaperone Therapy for Oculocutaneous Albinism Type 1A. ( 30447237 )
2019
3
Aberrant visual pathway development in albinism: From retina to cortex. ( 30511784 )
2019
4
Dermoscopy of naevi in patients with oculocutaneous albinism. ( 30656729 )
2019
5
A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1. ( 30679655 )
2019
6
Accommodation and near visual function in children with albinism. ( 30702212 )
2019
7
Ocular albinism with bilateral ocular coloboma - A rare association. ( 30777963 )
2019
8
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising. ( 30791930 )
2019
9
A Case of Oculocutaneous Albinism in a Patient with Hashimoto's Thyroiditis. ( 30800642 )
2019
10
Conversations with Ray Guillery on albinism: linking Siamese cat visual pathway connectivity to mouse retinal development. ( 30801828 )
2019
11
Oral Levodopa rescues retinal morphology and visual function in a murine model of human albinism. ( 30851223 )
2019
12
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations. ( 30868578 )
2019
13
A case report for severe hand-foot skin reaction caused by chemotherapy with actinomycin D in a patient with oculocutaneous albinism. ( 30881037 )
2019
14
Correlation between electroretinography, foveal anatomy and visual acuity in albinism. ( 30927186 )
2019
15
Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism. ( 30942644 )
2019
16
Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families. ( 30996339 )
2019
17
Amelanotic Ciliochoroidal Melanoma in a Patient with Oculocutaneous Albinism. ( 31049325 )
2019
18
Comprehensive Analysis of Spectral Distribution of a large cohort of Chinese Patients with Non-syndromic Oculocutaneous Albinism Facilitates Genetic Diagnosis. ( 31077556 )
2019
19
Ocular albinism with mutation in GPR143: Findings in wide-field autofluorescence and optical coherence tomography. ( 31103373 )
2019
20
Daylight Photodynamic Therapy in the Treatment of Actinic Keratosis in Carriers of Oculocutaneous Albinism: Report of Three Cases. ( 30458957 )
2018
21
DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ( 28234808 )
2018
22
Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting. ( 28976636 )
2018
23
Children with albinism in African regions: their rights to 'being' and 'doing'. ( 29329540 )
2018
24
Molecular characterization of a series of 990 index patients with albinism. ( 29345414 )
2018
25
Oculocutaneous albinism with iridofundal coloboma. ( 29374654 )
2018
26
Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing. ( 29437493 )
2018
27
Corrigendum: Proteome and Acetyl-Proteome Profiling of Camellia sinensis cv. 'Anji Baicha' during Periodic Albinism Reveals Alterations in Photosynthetic and Secondary Metabolite Biosynthetic Pathways. ( 29443326 )
2018
28
Identification of TYR mutations in patients with oculocutaneous albinism. ( 29658579 )
2018
29
Retinal detachment in albinism. ( 29670325 )
2018
30
Visual Development During the Second Decade of Life in Albinism. ( 29809263 )
2018
31
The Phenotypic Spectrum of Albinism. ( 30098354 )
2018
32
Ocular albinism with infertility and late-onset sensorineural hearing loss. ( 30160833 )
2018
33
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
34
Burden of albinism: development and validation of a burden assessment tool. ( 30227882 )
2018
35
Functional validation of the albinism-associated tyrosinase T373K SNP by CRISPR/Cas9-mediated homology-directed repair (HDR) in rabbits. ( 30274819 )
2018
36
First report of partial albinism in the blue lobster Panulirusinflatus (Bouvier, 1895) from the Mexican Pacific (Crustacea, Decapoda, Palinuridae). ( 30279630 )
2018
37
Beliefs about people with albinism in Uganda: A qualitative study using the Common-Sense Model. ( 30312349 )
2018
38
Changes in refractive errors in albinism: a longitudinal study over the first decade of life. ( 30343058 )
2018
39
Corrigendum: Neglected tumor in a female with albinism. ( 30344847 )
2018
40
Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3. ( 30347088 )
2018
41
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. ( 30369044 )
2018
42
The Henle Fiber Layer in Albinism: Comparison to Normal and Relationship to Outer Nuclear Layer Thickness and Foveal Cone Density. ( 30398625 )
2018
43
A 40-Year-Old Man With Albinism and Progressive Dyspnea. ( 30409369 )
2018
44
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene. ( 30472657 )
2018
45
Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143. ( 30513407 )
2018
46
Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism. ( 30541351 )
2018
47
Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability. ( 30555098 )
2018
48
A case report: Co-occurrence of Wilson disease and oculocutaneous albinism in a Chinese patient. ( 30558096 )
2018
49
X-linked Ocular Albinism. ( 30578484 )
2018
50
Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1. ( 30868138 )
2018

Variations for Albinism

ClinVar genetic disease variations for Albinism:

6 (show all 34)
# 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 rs1384042381 GRCh38 Chromosome 15, 27957712: 27957712
26 OCA2 NM_000275.2(OCA2): c.1660T> C (p.Trp554Arg) single nucleotide variant Likely pathogenic rs1384042381 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_000015.10: g.28017719_28020677del2959 deletion Likely pathogenic GRCh37 Chromosome 15, 28262865: 28265823
30 OCA2 NC_000015.10: g.28017719_28020677del2959 deletion Likely pathogenic GRCh38 Chromosome 15, 28017719: 28020677
31 TYR NM_000372.4(TYR): c.1352A> G (p.Tyr451Cys) single nucleotide variant Likely pathogenic rs376823382 GRCh38 Chromosome 11, 89284940: 89284940
32 TYR NM_000372.4(TYR): c.1352A> G (p.Tyr451Cys) single nucleotide variant Likely pathogenic rs376823382 GRCh37 Chromosome 11, 89018108: 89018108
33 NRL NM_006177.4(NRL): c.448_466dup (p.Glu156Alafs) duplication Uncertain significance rs1555339028 GRCh38 Chromosome 14, 24081484: 24081502
34 NRL NM_006177.4(NRL): c.448_466dup (p.Glu156Alafs) duplication Uncertain significance rs1555339028 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 9.71 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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