Aliases & Classifications for Dilution, Pigmentary

MalaCards integrated aliases for Dilution, Pigmentary:

Name: Dilution, Pigmentary 57 29
Albinoidism, Oculocutaneous, Autosomal Dominant 57 73
Hypopigmentation Disorder 73
Albinism, Partial 57
Hypopigmentation 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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, heart and eye, 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 128)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 12.5
2 oculocerebral syndrome with hypopigmentation 12.5
3 hyperpigmentation with or without hypopigmentation, familial progressive 12.5
4 osteoporosis and oculocutaneous hypopigmentation syndrome 12.3
5 oculocerebral hypopigmentation syndrome of preus 12.2
6 raindrop hypopigmentation 12.1
7 tietz albinism-deafness syndrome 12.1
8 vici syndrome 12.0
9 hypopigmentation of eyelid 12.0
10 griscelli syndrome 12.0
11 waardenburg syndrome, type 2e 11.7
12 griscelli syndrome, type 2 11.7
13 griscelli syndrome, type 1 11.6
14 piebald trait 11.4
15 cole disease 11.4
16 hypomelanotic disorder 11.4
17 chediak-higashi syndrome 11.3
18 acrocephalopolydactylous dysplasia 11.2
19 aland island eye disease 11.2
20 albinism, ocular, type i 11.1
21 reticulate acropigmentation of kitamura 11.1
22 epidermolysis bullosa simplex with mottled pigmentation 10.9
23 waardenburg syndrome, type 3 10.9
24 macular dystrophy, concentric annular 10.9
25 gillespie syndrome 10.9
26 revesz syndrome 10.9
27 rothmund-thomson syndrome 10.9
28 mismatch repair cancer syndrome 10.9
29 hypomelanosis of ito 10.9
30 albinism-deafness syndrome 10.9
31 menkes disease 10.9
32 poikiloderma with neutropenia 10.9
33 albinism, oculocutaneous, type ib 10.9
34 griscelli syndrome, type 3 10.9
35 hyperpigmentation, familial progressive, 1 10.9
36 epidermolysis bullosa simplex, generalized, with scarring and hair loss 10.9
37 ocular albinism, x-linked 10.9
38 albinism 10.3
39 melanoma 10.2
40 hermansky-pudlak syndrome 10.2
41 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1
42 angelman syndrome 10.0
43 keratosis 10.0
44 tenosynovitis 10.0
45 pallister-killian syndrome 9.9
46 papillary carcinoma 9.9
47 kallmann syndrome 9.9
48 paraplegia 9.9
49 pityriasis versicolor 9.9
50 waardenburg's syndrome 9.9

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



Diseases related to Dilution, Pigmentary

Symptoms & Phenotypes for Dilution, Pigmentary

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Dilution, Pigmentary:

32
# Description HPO Frequency HPO Source Accession
1 hypopigmentation of hair 32 HP:0005599
2 hypopigmentation of the fundus 32 HP:0007894
3 iris hypopigmentation 32 HP:0007730
4 hypopigmentation of the skin 32 HP:0001010

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 201)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorouracil Approved Phase 4 51-21-8 3385
2
mometasone furoate Approved, Vet_approved Phase 4 83919-23-7
3
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 104987-11-3 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 6447131 17753757
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 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
Ketoconazole Approved, Investigational Phase 4 65277-42-1 3823 47576
12
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1 22916-47-8 4189
13
Calcitriol Approved, Nutraceutical Phase 4,Phase 1 32222-06-3 5280453 134070
14
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538 444795
15
Lactitol Investigational Phase 4 585-86-4 3871
16 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Antimetabolites, Antineoplastic Phase 4,Phase 2
18 Antimetabolites Phase 4,Phase 1,Phase 2,Not Applicable
19 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Calcineurin Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Anti-Allergic Agents Phase 4,Not Applicable
22 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
23 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable
25 Respiratory System Agents Phase 4,Phase 1,Phase 2,Not Applicable
26 Autonomic Agents Phase 4,Phase 2,Not Applicable
27 Anti-Asthmatic Agents Phase 4,Not Applicable
28 Bronchodilator Agents Phase 4,Not Applicable
29 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2,Phase 1
30 Analgesics Phase 4,Phase 2,Phase 1,Not Applicable
31 Antirheumatic Agents Phase 4,Phase 2,Phase 1
32 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 1
33 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
34 Ficusin Phase 4,Phase 2
35 Furocoumarins Phase 4,Phase 2
36 Amotosalen Phase 4,Phase 2
37 Anti-Infective Agents Phase 4,Phase 2,Phase 1,Not Applicable
38 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
39 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
40 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
41 glucocorticoids Phase 4,Phase 2,Phase 3,Not Applicable
42 Calcium, Dietary Phase 4,Phase 1,Phase 2
43 Cathartics Phase 4
44 Laxatives Phase 4
45 Gastrointestinal Agents Phase 4,Phase 2,Phase 1
46 Vasoconstrictor Agents Phase 4,Phase 1
47 Micronutrients Phase 4,Phase 1
48 Vitamins 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 190)
# 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 Not yet 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 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
42 Phase 3 Study of Levulan With New Blue Light for AK on the Face or Scalp Withdrawn NCT03024060 Phase 3 ALA;Vehicle
43 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
44 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
45 Light Emitting Diode (LED) for the Treatment of Wrinkles Completed NCT00818246 Phase 2, Phase 3
46 Efficacy and Safety of Intralesional Corticosterois in the Treatment of Vitiligo Unknown status NCT01766609 Phase 2 Triamcinolone Acetonide
47 Topical Psoralen Ultraviolet Light A Versus Narrow Band Ultraviolet Light B Treatment for Recalcitrant Dermatoses of the Hand Unknown status NCT01792245 Phase 2
48 Efficacy of Red Light in Vitiligo Unknown status NCT01787708 Phase 2
49 UVA 1 Phototherapy for Vitiligo Unknown status NCT01787695 Phase 2
50 Treatment and Complication of Bath PUVA in Vitiligo Unknown status NCT00380471 Phase 2

Search NIH Clinical Center for Dilution, Pigmentary

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Dilution, Pigmentary

Genetic tests related to Dilution, Pigmentary:

# Genetic test Affiliating Genes
1 Dilution, Pigmentary 29

Anatomical Context for Dilution, Pigmentary

MalaCards organs/tissues related to Dilution, Pigmentary:

41
Skin, Heart, Eye, T Cells, B Cells, Myeloid

Publications for Dilution, Pigmentary

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 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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