Aliases & Classifications for Dilution, Pigmentary

MalaCards integrated aliases for Dilution, Pigmentary:

Name: Dilution, Pigmentary 58 30
Albinoidism, Oculocutaneous, Autosomal Dominant 58 74
Hypopigmentation Disorder 74
Albinism, Partial 58
Hypopigmentation 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
dilution, pigmentary:
Inheritance autosomal dominant inheritance


Summaries for Dilution, Pigmentary

MalaCards based summary : Dilution, Pigmentary, also known as albinoidism, oculocutaneous, autosomal dominant, is related to yemenite deaf-blind hypopigmentation syndrome and oculocerebral syndrome with hypopigmentation, and has symptoms including achromia of skin The drugs Fluorouracil and mometasone furoate have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and breast, and related phenotypes are hypopigmentation of hair and hypopigmentation of the fundus

Description from OMIM: 126070

Related Diseases for Dilution, Pigmentary

Diseases related to Dilution, Pigmentary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 142)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 12.6
2 oculocerebral syndrome with hypopigmentation 12.6
3 hyperpigmentation with or without hypopigmentation, familial progressive 12.5
4 osteoporosis and oculocutaneous hypopigmentation syndrome 12.4
5 oculocerebral hypopigmentation syndrome of preus 12.3
6 raindrop hypopigmentation 12.2
7 tietz albinism-deafness syndrome 12.1
8 hypopigmentation of eyelid 12.1
9 vici syndrome 12.1
10 waardenburg syndrome, type 2e 12.0
11 griscelli syndrome, type 2 11.7
12 griscelli syndrome, type 1 11.7
13 piebald trait 11.5
14 cole disease 11.5
15 hypomelanotic disorder 11.5
16 chediak-higashi syndrome 11.3
17 acrocephalopolydactylous dysplasia 11.3
18 griscelli syndrome, type 3 11.3
19 aland island eye disease 11.2
20 hypomelanosis of ito 11.1
21 albinism, ocular, type i 11.1
22 reticulate acropigmentation of kitamura 11.1
23 dyschromatosis universalis hereditaria 1 11.0
24 epidermolysis bullosa simplex with mottled pigmentation 11.0
25 waardenburg syndrome, type 3 11.0
26 macular dystrophy, concentric annular 11.0
27 gillespie syndrome 11.0
28 revesz syndrome 11.0
29 rothmund-thomson syndrome 11.0
30 mismatch repair cancer syndrome 11.0
31 albinism-deafness syndrome 11.0
32 menkes disease 11.0
33 poikiloderma with neutropenia 11.0
34 albinism, oculocutaneous, type ib 11.0
35 hyperpigmentation, familial progressive, 1 11.0
36 epidermolysis bullosa simplex, generalized, with scarring and hair loss 11.0
37 ocular albinism, x-linked 11.0
38 vitiligo-associated multiple autoimmune disease susceptibility 1 10.4
39 albinism 10.4
40 melanoma 10.2
41 hermansky-pudlak syndrome 10.2
42 mycosis fungoides 10.1
43 prader-willi syndrome 10.1
44 albinism, oculocutaneous, type ii 10.1
45 keratosis 10.1
46 angelman syndrome 10.0
47 neutrophil migration 10.0
48 tenosynovitis 10.0
49 oculocutaneous albinism 10.0
50 pallister-killian syndrome 9.9

Graphical network of the top 20 diseases related to Dilution, Pigmentary:



Diseases related to Dilution, Pigmentary

Symptoms & Phenotypes for Dilution, Pigmentary

Human phenotypes related to Dilution, Pigmentary:

33
# Description HPO Frequency HPO Source Accession
1 hypopigmentation of hair 33 HP:0005599
2 hypopigmentation of the fundus 33 HP:0007894
3 iris hypopigmentation 33 HP:0007730
4 hypopigmentation of the skin 33 HP:0001010

Symptoms via clinical synopsis from OMIM:

58
Hair:
hypopigmented hair

Eyes:
fine punctate or diffuse depigmentation of irides and fundi
no nystagmus, photophobia, or visual defect

Skin:
hypomelanism

Clinical features from OMIM:

126070

UMLS symptoms related to Dilution, Pigmentary:


achromia of skin

Drugs & Therapeutics for Dilution, Pigmentary

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

(show top 50) (show all 212)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorouracil Approved Phase 4 51-21-8 3385
2
mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7
3
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 104987-11-3 6473866 445643 439492
4
Fluticasone Approved, Experimental Phase 4,Not Applicable 90566-53-3 62924
5
Pimecrolimus Approved, Investigational Phase 4,Phase 2 137071-32-0 17753757 6447131
6
Aminolevulinic acid Approved Phase 4,Phase 3,Phase 2,Not Applicable 106-60-5 137
7
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
8
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
9
Adalimumab Approved Phase 4,Phase 2 331731-18-1 16219006
10
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
11
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1 22916-47-8 4189
12
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
13
Calcium Approved, Nutraceutical Phase 4,Phase 1,Phase 2 7440-70-2 271
14
Calcitriol Approved, Nutraceutical Phase 4,Phase 1 32222-06-3 5280453 134070
15
Tretinoin Approved, Investigational, Nutraceutical Phase 4,Not Applicable 302-79-4 444795 5538
16
Lactitol Investigational Phase 4 585-88-6, 585-86-4 493591
17 Antimetabolites, Antineoplastic Phase 4,Phase 2
18 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Antimetabolites Phase 4,Phase 1,Phase 2,Not Applicable
20 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Anti-Allergic Agents Phase 4,Not Applicable
23 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
24 Calcineurin Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Autonomic Agents Phase 4,Phase 2,Not Applicable
26 Bronchodilator Agents Phase 4,Not Applicable
27 Respiratory System Agents Phase 4,Phase 1,Phase 2,Not Applicable
28 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable
29 Anti-Asthmatic Agents Phase 4,Not Applicable
30 Analgesics Phase 4,Phase 2,Phase 1,Not Applicable
31 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 1
32 Antirheumatic Agents Phase 4,Phase 2,Phase 1
33 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2,Phase 1
34 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
35 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Amotosalen Phase 4,Phase 2
37 Ficusin Phase 4,Phase 2
38 Furocoumarins Phase 4,Phase 2
39 Neurotransmitter Agents Phase 4,Phase 2,Not Applicable
40 Anti-Infective Agents Phase 4,Phase 2,Phase 1,Not Applicable
41 glucocorticoids Phase 4,Phase 2,Phase 3,Not Applicable
42 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
43 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
44 Calcium, Dietary Phase 4,Phase 1,Phase 2
45 Gastrointestinal Agents Phase 4,Phase 2,Phase 1
46 Laxatives Phase 4
47 Cathartics Phase 4
48 Nutrients Phase 4,Phase 1
49 Trace Elements Phase 4,Phase 1
50 Bone Density Conservation Agents Phase 4,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 203)
# Name Status NCT ID Phase Drugs
1 Punchgrafting Techniques for Vitiligo Unknown status NCT01377077 Phase 4
2 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Unknown status NCT01640678 Phase 4
3 Conventional Microneedling vs Microneedling With 5-FU (MMP) for Idiopathic Guttate Hypomelanosis (IGH) Repigmentation Unknown status NCT02904564 Phase 4
4 Comparison of Efficacy and Safety of 0.1% Tacrolimus and 0.1% Mometasone Furoate for Adult Vitiligo Unknown status NCT01333410 Phase 4 tacrolimus ointment;Mometasone furoate
5 Effect of Fluticasone Proprionate 0.05% on Narrow Band UV-B in Active Vitiligo Unknown status NCT01246921 Phase 4 Fluticasone proprionate 0.05% cream
6 Vitiligo and the Koebner Phenomenon (Model of Vitiligo Induction and Therapy: a Clinical and Immunological Analysis) Unknown status NCT01082393 Phase 4 topical tacrolimus treatment;topical pimecrolimus treatment;local mometasone furoate treatment;cold cream
7 Radiesse® Injectable Dermal Filler for the Treatment of Nasolabial Folds in Persons of Color Completed NCT01012388 Phase 4
8 Study of Pimecrolimus Treatment for Atopic Dermatitis of African American Children Terminated NCT00810862 Phase 4 pimecrolimus active cream
9 Plaque Psoriasis Study in Pediatric Subjects Completed NCT02186665 Phase 4 calcitriol ointment;placebo comparator
10 Intralesional Measles, Mumps, Rubella (MMR) Vaccine Versus Cryotherapy in Treatment of Multiple Common and Planter Warts Recruiting NCT03183765 Phase 4 Measles-Mumps-Rubella Vaccine
11 Treatment of Photodamaged Skin of the décolleté Recruiting NCT03573076 Phase 4
12 Bimatoprost 0.03% Solution With NB-UVB Versus Their Use With Fractional Carbon Dioxide Laser in Treatment of Generalized Vitiligo Not yet recruiting NCT03487042 Phase 4 Bimatoprost 0.03% ophthalmic solution
13 Effectiveness of Narrow-band Ultraviolet B Combined With Topical Tacrolimus 0.03% in Treatment of Patients With Vitiligo Recruiting NCT03199664 Phase 4
14 NB-UVB and PUVA Vitiligo Study Completed NCT01732965 Phase 4
15 Topical Bimatoprost Solution 0.03%in Stable Vitiligo Withdrawn NCT01202513 Phase 4 Bimatoprost 0.03% topical ophthalmic solution
16 Botulinum Toxin Treatment for Localized Vitiligo Completed NCT01051687 Phase 4 Botulinum toxin A
17 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Completed NCT02458417 Phase 4
18 Clinical Evaluation of Day and Night Skin Care Creams Supplemented With MediCell Technology (MCT)'s Composition of Defensins and Supportive Molecules Completed NCT02765763 Phase 4 2-Minute Reveal Masque;24/7 Barrier Repair Cream;8-in-1 BioSerum;Null Formula 2-Minute Reveal Masque;Null Formula 24/7 Barrier Repair Cream;Null Formula 8-in-1 BioSerum
19 Immediate Response With Adalimumab and Its Impact on Quality of Life and Other Comorbidity Factors in Patients With Moderate to Severe Plaque Psoriasis Completed NCT01265823 Phase 4
20 Enstilar® Foam in the Treatment of Chronic Plaque Psoriasis in Patients With Skin of Color Recruiting NCT03506477 Phase 4 Enstilar® foam;Vehicle foam
21 STUDY TO ASSESS THE LONG-TERM SAFETY OF EXTINA (KETOCONAZOLE) FOAM, 2% Completed NCT00703846 Phase 4 Ketoconazole
22 Efficacy of Tacrolimus in Adults With Facial Non-segmental Vitiligo - VITAC Unknown status NCT02466997 Phase 3 tacrolimus;Placebo
23 Virus Early Transcription Factor (VETF) Multicenter Phototherapy Protocol Unknown status NCT00525395 Phase 3
24 Efficacy of Laser Versus Cryotherapy in the Treatment of Warts Unknown status NCT01808443 Phase 3
25 A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism) Unknown status NCT02156427 Phase 3
26 JAK1 Inhibitor With Medicated Topical Therapy in Adolescents With Atopic Dermatitis Recruiting NCT03796676 Phase 3 Placebo;PF-04965842;PF04965842
27 Silicone Gel in the Treatment of Cleft Lip Scars Completed NCT03314090 Phase 3 Silicone Gels
28 Microneedling and Latanoprost in Acrofacial Vitiligo Not yet recruiting NCT03611348 Phase 2, Phase 3 Latanoprost
29 Assessing the Efficacy of Needling With or Without Corticosteroids in the Repigmentation of Vitiligo Terminated NCT02191748 Phase 2, Phase 3 Triamcinolone
30 Maintenance Treatment of Non Segmental Vitiligo With Tacrolimus Ointment 0.1% Versus Control Terminated NCT01841008 Phase 2, Phase 3 Protopic;Placebo : Diprobase
31 Comparative Study of Techniques in Melanocyte-Keratinocyte Transplantation for the Treatment of Vitiligo Withdrawn NCT01822379 Phase 2, Phase 3
32 Epidermal Cell Transplantation in Vitiligo Skin Completed NCT01629979 Phase 2, Phase 3
33 Efficacy and Safety of ACH24 in the Treatment of Vitiligo Withdrawn NCT01419964 Phase 3 Group 01;Group 02
34 Interest of the Dermabrasion by Laser Erbium in the Treatment of the Vitiligo Completed NCT01087216 Phase 2, Phase 3 Bras B : The group control
35 Vitiligo Skin Transplantation Completed NCT00830713 Phase 3
36 Vitiligo Treated With TL01 Combined With Tacrolimus Ointment Versus Placebo Completed NCT00807690 Phase 3 Tacrolimus ointment
37 Excimer Lamp Versus Excimer Laser in Vitiligo Treatment Completed NCT00696358 Phase 3
38 Autologous Transplantation of Melanocytes for Treatment of Vitiligo Skin Completed NCT00631865 Phase 3
39 Safety and Efficacy Study of Photodynamic Therapy With Levulan Kerastick + Blue Light for Actinic Keratoses on the Upper Extremities Completed NCT02137785 Phase 3 Aminolevulinic Acid (ALA);Topical Solution Vehicle
40 Fractional CO2 Laser Assisted Photodynamic Therapy Completed NCT01260987 Phase 2, Phase 3 Conventional photodynamic therapy;Fractional CO2 laser assisted PDT
41 Safety and Efficacy Study for the Treatment of Non-Aggressive Basal Cell Carcinoma With Photodynamic Therapy Active, not recruiting NCT02144077 Phase 3 BF-200 ALA;methyl-aminolevulinate
42 Safety and Efficacy Study for the Field-directed Treatment of Actinic Keratosis (AK) With Photodynamic Therapy (PDT) Completed NCT01966120 Phase 3 BF-200 ALA gel;Placebo to BF-200 ALA gel
43 Phase 3 Study of Levulan With New Blue Light for AK on the Face or Scalp Withdrawn NCT03024060 Phase 3 ALA;Vehicle
44 Evaluation of Safety and Efficacy of BF-200 ALA for the Treatment of Actinic Keratosis With Photodynamic Therapy Completed NCT02799069 Phase 3 BF-200 ALA;MAL Cream;Vehicle
45 Evaluation of Efficacy and Safety of BF-200 ALA Used With Photodynamic Therapy in Patients With Actinic Keratosis. Completed NCT02799082 Phase 3 Vehicle;BF-200 ALA
46 Light Emitting Diode (LED) for the Treatment of Wrinkles Completed NCT00818246 Phase 2, Phase 3
47 Efficacy and Safety of Intralesional Corticosterois in the Treatment of Vitiligo Unknown status NCT01766609 Phase 2 Triamcinolone Acetonide
48 Topical Psoralen Ultraviolet Light A Versus Narrow Band Ultraviolet Light B Treatment for Recalcitrant Dermatoses of the Hand Unknown status NCT01792245 Phase 2
49 Efficacy of Red Light in Vitiligo Unknown status NCT01787708 Phase 2
50 UVA 1 Phototherapy for Vitiligo Unknown status NCT01787695 Phase 2

Search NIH Clinical Center for Dilution, Pigmentary

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Dilution, Pigmentary

Genetic tests related to Dilution, Pigmentary:

# Genetic test Affiliating Genes
1 Dilution, Pigmentary 30

Anatomical Context for Dilution, Pigmentary

MalaCards organs/tissues related to Dilution, Pigmentary:

42
Skin, Testes, Breast, Brain, Liver, Bone, Appendix

Publications for Dilution, Pigmentary

Articles related to Dilution, Pigmentary:

# Title Authors Year
1
Albinism, partial albinism, and vitiligo. ( 13754936 )
1961

Variations for Dilution, Pigmentary

Expression for Dilution, Pigmentary

Search GEO for disease gene expression data for Dilution, Pigmentary.

Pathways for Dilution, Pigmentary

GO Terms for Dilution, Pigmentary

Sources for Dilution, Pigmentary

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
Content
Loading form....