MCID: ALB002
MIFTS: 46

Albinism malady

Categories: Rare diseases, Metabolic diseases, Genetic diseases

Aliases & Classifications for Albinism

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 oculocutaneous albinism and albinism, oculocutaneous, type ii. An important gene associated with Albinism is TYR (Tyrosinase), 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 Metformin 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 craniofacial

Wikipedia : 71 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 172)
id Related Disease Score Top Affiliating Genes
1 oculocutaneous albinism 12.4
2 albinism, oculocutaneous, type ii 12.3
3 albinism, oculocutaneous, type ia 12.3
4 albinism, oculocutaneous, type ib 12.3
5 ocular albinism 12.2
6 albinism, oculocutaneous, type iii 12.2
7 ocular albinism, type i, nettleship-falls type 12.2
8 waardenburg syndrome/ocular albinism, digenic 12.2
9 albinism, oculocutaneous, type iv 12.2
10 albinism, oculocutaneous, type vi 12.2
11 ocular albinism, x-linked 12.2
12 albinism, oculocutaneous, type vii 12.2
13 albinism, oculocutaneous, type v 12.1
14 tietz albinism-deafness syndrome 12.1
15 ocular albinism with sensorineural deafness 12.1
16 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.0
17 albinism immunodeficiency 12.0
18 albinism-deafness syndrome 11.9
19 hermansky-pudlak syndrome 11.8
20 minimal pigment oculocutaneous albinism type 1 11.8
21 albinism-microcephaly-digital anomalies syndrome 11.8
22 griscelli syndrome 11.7
23 chediak-higashi syndrome 11.7
24 aland island eye disease 11.7
25 albinism, minimal pigment type 11.7
26 hermansky-pudlak syndrome 2 11.6
27 abcd syndrome 11.6
28 griscelli syndrome, type 2 11.5
29 hermansky-pudlak syndrome 9 11.5
30 hermansky-pudlak syndrome 7 11.5
31 hermansky-pudlak syndrome 8 11.5
32 hermansky-pudlak syndrome 4 11.5
33 hermansky-pudlak syndrome 1 11.4
34 hermansky-pudlak syndrome 3 11.3
35 hermansky-pudlak syndrome 6 11.3
36 hermansky-pudlak syndrome 5 11.3
37 piebaldism 11.3
38 foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 11.2
39 griscelli syndrome, type 1 11.1
40 vici syndrome 11.0
41 hypomelanotic disorder 10.9
42 nystagmus 1, congenital, x-linked 10.8
43 kotzot-richter syndrome 10.8
44 immunodeficiency due to defect in mapbp-interacting protein 10.6
45 foveal hypoplasia 1 10.6
46 autoimmune inner ear disease 10.6
47 waardenburg's syndrome 10.3
48 hypogonadotropic hypogonadism 1 with or without anosmia 10.2 GPR143 TYR
49 pyloric stenosis, infantile hypertrophic, 3 10.2 OCA2 TYR
50 melanoma, cutaneous malignant 8 10.2 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 10.01 HPS1 HPS4 MITF OCA2 SLC24A5 SLC45A2
2 craniofacial MP:0005382 9.98 HPS1 HPS4 MITF OCA2 SLC24A5 TYR
3 homeostasis/metabolism MP:0005376 9.92 HPS1 HPS4 MITF OCA2 SLC24A5 SLC45A2
4 hearing/vestibular/ear MP:0005377 9.91 HPS1 HPS4 MITF OCA2 SLC24A5 TYR
5 integument MP:0010771 9.86 HPS1 HPS4 MITF OCA2 SLC24A5 SLC45A2
6 pigmentation MP:0001186 9.61 GPR143 HPS1 HPS4 MITF OCA2 SLC24A5
7 limbs/digits/tail MP:0005371 9.46 HPS1 MITF OCA2 TYR
8 vision/eye MP:0005391 9.28 HPS4 MITF OCA2 SLC24A5 SLC45A2 TYR

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 53477783
2
Metformin Approved Phase 4 657-24-9 14219 4091
3
Medroxyprogesterone acetate Approved, Investigational Phase 4 71-58-9
4
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538
5
Medroxyprogesterone Phase 4 520-85-4 10631
6 Estradiol valerate Phase 4 979-32-8
7 Contraceptive Agents Phase 4
8 Contraceptive Agents, Male Phase 4
9 Contraceptives, Oral Phase 4
10 Hormone Antagonists Phase 4,Phase 1,Phase 2
11 Hormones Phase 4,Phase 1,Phase 2
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2
13 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1
14 Estradiol 17 beta-cypionate Phase 4
15 Hypoglycemic Agents Phase 4
16 Estradiol 3-benzoate Phase 4
17 Estrogens Phase 4
18 Polyestradiol phosphate Phase 4
19 Antineoplastic Agents, Hormonal Phase 4
20
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741 24759
21
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
22
Allopurinol Approved Phase 3 315-30-0 2094
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 Antimetabolites Phase 3,Phase 1,Phase 2
30 Antioxidants Phase 3,Phase 1,Phase 2
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
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
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
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
39
Pirfenidone Investigational Phase 2 53179-13-8 40632
40 Anti-Infective Agents Phase 1, Phase 2
41 Neurotransmitter Agents Phase 2
42 Dihydroxyphenylalanine Phase 2
43 Dopamine Agents Phase 2
44 Antiparkinson Agents Phase 2
45 Peripheral Nervous System Agents Phase 2,Phase 1
46 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
47 Autonomic Agents Phase 2
48 Carbidopa, levodopa drug combination Phase 2
49 Analgesics Phase 2,Phase 1
50 Analgesics, Non-Narcotic Phase 2,Phase 1

Interventional clinical trials:

(show all 25)
id Name Status NCT ID Phase
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
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) Recruiting NCT02156427 Phase 3
6 Effect of Allopurinol for Hypoxic-ischemic Brain Injury on Neurocognitive Outcome Not yet recruiting NCT03162653 Phase 3
7 Trial of L-DOPA as a Treatment to Improve Vision in Albinism Completed NCT01176435 Phase 2
8 Vision Response to Dopamine Replacement Recruiting NCT01663935 Phase 2
9 Nitisinone for Type 1B Oculocutaneous Albinism Active, not recruiting NCT01838655 Phase 1, Phase 2
10 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Active, not recruiting NCT00001596 Phase 2
11 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2
12 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2
13 Safety and Efficacy of Primaquine for P. Vivax Unknown status NCT01837992
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 Multi-center Trial of Goal-directed Fluid Management Based on Pulse Pressure Variation Monitoring Completed NCT03128190
17 The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism Recruiting NCT02200263
18 Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Recruiting NCT00808106
19 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
20 Study of Chediak-Higashi Syndrome Recruiting NCT00005917
21 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
22 Clinical and Basic Investigations Into Erdheim Chester Disease Recruiting NCT01417520
23 Screening Protocol for Genetic Diseases of Mast Cell Homeostasis and Activation Recruiting NCT00852943
24 AdaptResponse Clinical Trial Recruiting NCT02205359
25 Adapted Safe Childbirth Checklist in Chiapas, Mexico Not yet recruiting NCT02886364

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 801)
id Title Authors Year
1
Altered whole-brain connectivity in albinism. ( 27684406 )
2017
2
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish. ( 28289846 )
2017
3
Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. ( 27720922 )
2017
4
Blood serum retinol levels in Asinara white donkeys reflect albinism-induced metabolic adaptation to photoperiod at Mediterranean latitudes. ( 28070301 )
2017
5
Population data of 13 nonCODIS STR markers located inside the 6 nonsyndromic oculocutaneous albinism genes. ( 26932870 )
2016
6
Isolation and dynamic expression of four genes involving in shikimic acid pathway in Camellia sinensis 'Baicha 1' during periodic albinism. ( 27553670 )
2016
7
Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4. ( 27350326 )
2016
8
Albinism as a visual, in vivo guide for CRISPR/Cas9 functionality in the sea urchin embryo. ( 27859831 )
2016
9
Abnormally Small Neuromuscular Junctions in the Extraocular Muscles From Subjects With Idiopathic Nystagmus and Nystagmus Associated With Albinism. ( 27092717 )
2016
10
Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism. ( 27058854 )
2016
11
Generation of human embryonic stem cells from abnormal blastocyst diagnosed with albinism. ( 27934600 )
2016
12
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. ( 27889061 )
2016
13
Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula. ( 26785811 )
2016
14
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. ( 27225848 )
2016
15
Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a caucasian family. ( 27776349 )
2016
16
Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes. ( 26778432 )
2016
17
Concordance of visual and structural features between siblings with albinism. ( 26917069 )
2016
18
Mutation analysis of a Chinese family with oculocutaneous albinism. ( 27829221 )
2016
19
A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism. ( 27462254 )
2016
20
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. ( 27641950 )
2016
21
The albinism of the feral Asinara white donkeys (Equus asinus) is determined by a missense mutation in a highly conserved position of the tyrosinase (TYR) gene deduced protein. ( 26763160 )
2016
22
Oculocutaneous Albinism Type 1: Link between Mutations, Tyrosinase Conformational Stability, and Enzymatic Activity. ( 27775880 )
2016
23
Surgical challenges and outcomes of rhegmatogenous retinal detachment in albinism. ( 26611845 )
2016
24
Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes. ( 27690000 )
2016
25
GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism. ( 27607449 )
2016
26
A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism. ( 27016801 )
2016
27
Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 27275442 )
2016
28
Albinism, stigma, subjectivity and global-local discourses in Tanzania. ( 27354179 )
2016
29
PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY. ( 27192893 )
2016
30
Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism. ( 27146942 )
2016
31
Functional assessment of tyrosinase variants identified in individuals with albinism is essential for unequivocal determination of genotype to phenotype correlation. ( 27537549 )
2016
32
Allelic heterogeneity of albinism in the domestic cat. ( 27634063 )
2016
33
Nystagmus Does Not Limit Reading Ability in Albinism. ( 27391149 )
2016
34
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. ( 27176668 )
2016
35
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism. ( 27129268 )
2016
36
Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism. ( 27344970 )
2016
37
Case Report Identification of a novel SLC45A2 mutation in albinism by targeted next-generation sequencing. ( 27706749 )
2016
38
Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography. ( 27585189 )
2016
39
Triple jeopardy for people with albinism. ( 27615283 )
2016
40
A new type of syndromic albinism associated with mutations in AP3D1. ( 27900855 )
2016
41
A cross-sectional examination of visual acuity by specific type of albinism. ( 27647118 )
2016
42
Structural insight with mutational impact on tyrosinase and PKC-I^ interaction from Homo sapiens: Molecular modeling and docking studies for melanogenesis, albinism and increased risk for melanoma. ( 27450914 )
2016
43
Dome-shaped macula in oculocutaneous albinism. ( 27118754 )
2016
44
Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4) - A Molecular Dynamics Approach. ( 27019209 )
2016
45
Report from the 1st international workshop on oculocutaneous albinism in subsaharan Africa, Douala, Cameroon, July 24-25(th) 2015. ( 27412970 )
2016
46
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
47
Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations. ( 26818737 )
2016
48
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. ( 26165494 )
2015
49
[Suspected pathogenic mutation identified in two cases with oculocutaneous albinism]. ( 26252096 )
2015
50
Good public awareness about albinism is key to reduced psychiatric distress in African people with albinism. ( 25651305 )
2015

Variations for Albinism

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 9.35 GPR143 HPS4 SLC24A5 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 pigmentation GO:0043473 9.56 MITF OCA2 TYR TYRP1
3 lysosome organization GO:0007040 9.46 HPS1 HPS4
4 melanosome organization GO:0032438 9.43 GPR143 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 melanocyte differentiation GO:0030318 9.26 HPS4 MITF OCA2 TYRP1
9 melanin biosynthetic process GO:0042438 8.92 OCA2 SLC45A2 TYR 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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