MCID: HYP213
MIFTS: 24

Hypomelanotic Disorder

Categories: Rare diseases

Aliases & Classifications for Hypomelanotic Disorder

MalaCards integrated aliases for Hypomelanotic Disorder:

Name: Hypomelanotic Disorder 52
Albinoidism, Oculocutaneous, Autosomal Dominant 71
Hypopigmentation Disorder 71
Hypopigmentation 52

Classifications:



External Ids:

UMLS 71 C0162835 C1876214

Summaries for Hypomelanotic Disorder

MalaCards based summary : Hypomelanotic Disorder, 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 Imiquimod and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina.

Wikipedia : 74 Albinism is the "congenital absence of any pigmentation or coloration in a person, animal or plant,... more...

Related Diseases for Hypomelanotic Disorder

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

(show top 50) (show all 253)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 12.7
2 oculocerebral syndrome with hypopigmentation 12.7
3 hyperpigmentation with or without hypopigmentation, familial progressive 12.6
4 osteoporosis and oculocutaneous hypopigmentation syndrome 12.6
5 hypopigmentation, organomegaly, and delayed myelination and development 12.5
6 oculocerebral hypopigmentation syndrome of preus 12.4
7 hypopigmentation of the skin 12.4
8 raindrop hypopigmentation 12.3
9 vici syndrome 12.2
10 tietz albinism-deafness syndrome 12.2
11 griscelli syndrome 12.2
12 cole disease 12.2
13 hypopigmentation of eyelid 12.2
14 genetic hypopigmentation of the skin 12.1
15 waardenburg syndrome, type 2e 12.1
16 griscelli syndrome, type 2 11.9
17 griscelli syndrome, type 1 11.8
18 dilution, pigmentary 11.6
19 hypomelanosis of ito 11.5
20 chediak-higashi syndrome 11.4
21 aland island eye disease 11.4
22 acrocephalopolydactylous dysplasia 11.4
23 menkes disease 11.4
24 griscelli syndrome, type 3 11.4
25 ocular albinism, x-linked 11.4
26 epidermolysis bullosa simplex with mottled pigmentation 11.2
27 albinism, ocular, type i 11.2
28 reticulate acropigmentation of kitamura 11.2
29 dyschromatosis universalis hereditaria 1 11.1
30 waardenburg syndrome, type 3 11.1
31 macular dystrophy, concentric annular 11.1
32 vitreoretinochoroidopathy 11.1
33 gillespie syndrome 11.1
34 bloom syndrome 11.1
35 fanconi anemia, complementation group a 11.1
36 cartilage-hair hypoplasia 11.1
37 revesz syndrome 11.1
38 mismatch repair cancer syndrome 11.1
39 albinism-deafness syndrome 11.1
40 incontinentia pigmenti 11.1
41 poikiloderma with neutropenia 11.1
42 albinism, oculocutaneous, type ib 11.1
43 hyperpigmentation, familial progressive, 1 11.1
44 epidermolysis bullosa simplex, generalized, with scarring and hair loss 11.1
45 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 11.1
46 albinism 10.5
47 dowling-degos disease 1 10.5
48 oculocutaneous albinism 10.4
49 albinism, oculocutaneous, type ii 10.3
50 hermansky-pudlak syndrome 10.3

Graphical network of the top 20 diseases related to Hypomelanotic Disorder:



Diseases related to Hypomelanotic Disorder

Symptoms & Phenotypes for Hypomelanotic Disorder

UMLS symptoms related to Hypomelanotic Disorder:


achromia of skin

Drugs & Therapeutics for Hypomelanotic Disorder

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

(show top 50) (show all 91)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Imiquimod Approved, Investigational Phase 4 99011-02-6 57469
2
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
3
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 32798 5311051
4
Petrolatum Approved, Investigational Phase 4 8009-03-8
5
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
6
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
7
Fluorouracil Approved Phase 4 51-21-8 3385
8
Ranibizumab Approved Phase 4 347396-82-1 459903
9
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
10
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
11
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 134070 5280453
12 Adjuvants, Immunologic Phase 4
13 Interferon Inducers Phase 4
14 interferons Phase 4
15 Calcium, Dietary Phase 4
16 Immunologic Factors Phase 4
17 Immunosuppressive Agents Phase 4
18 Anti-Inflammatory Agents Phase 4
19 Dermatologic Agents Phase 4
20 Calcineurin Inhibitors Phase 4
21 Anti-Infective Agents Phase 4
22 Hormone Antagonists Phase 4
23 Emollients Phase 4
24 glucocorticoids Phase 4
25 Hormones Phase 4
26 Cytochrome P-450 CYP3A Inhibitors Phase 4
27 Cytochrome P-450 Enzyme Inhibitors Phase 4
28 Antifungal Agents Phase 4
29 Steroid Synthesis Inhibitors Phase 4
30 Vitamins Phase 4
31 Micronutrients Phase 4
32 Trace Elements Phase 4
33 Nutrients Phase 4
34 Vasoconstrictor Agents Phase 4
35 Calciferol Phase 4
36 Defensins Phase 4
37 Antimetabolites Phase 4
38 Angiogenesis Inhibitors Phase 4
39
Dimethyl sulfoxide Approved, Vet_approved Phase 3 67-68-5 679
40
Pimecrolimus Approved, Investigational Phase 2, Phase 3 137071-32-0 6447131 17753757
41
Ethylene Phase 3 74-85-1 6325
42 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
43 Analgesics, Non-Narcotic Phase 2, Phase 3
44 Protective Agents Phase 2, Phase 3
45 Antirheumatic Agents Phase 2, Phase 3
46 Sunscreening Agents Phase 2, Phase 3
47 Radiation-Protective Agents Phase 2, Phase 3
48 Analgesics Phase 2, Phase 3
49
Cisplatin Approved Phase 1, Phase 2 15663-27-1 84093 441203 2767
50
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 11103-57-4, 22737-96-8 445354 9904001

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 An Investigator-Initiated Study to Assess the Safety and Efficacy of Imiquimod 3.75% Cream When Used After Cryotherapy in the Treatment of Hypertrophic Actinic Keratoses (AK) on Dorsal Hands and Forearms Unknown status NCT01229319 Phase 4 Cryotherapy alone to Left arm plus cryotherapy + imiquimod to Right arm;Cryotherapy alone to Left arm plus cryotherapy + imiquimod to Right arm
2 Post-Marketing Study of Radiesse® Injectable Dermal Filler for the Treatment of Nasolabial Folds in Persons of Color Completed NCT01012388 Phase 4
3 Treatment of Hypertrophic Scars Using Fractional Laser and Fractional Laser-assisted Topical Corticosteroid Delivery Completed NCT02487212 Phase 4 0.05% Clobetasol propionate;Petrolatum gel
4 Ketoconazole Foam 2% for the Treatment of Versicolor Completed NCT00830388 Phase 4 Ketoconazole 2% Foam
5 A Double Blind Randomized Trial, Placebo-controled of 0.0003% Calcitriol Ointment Versus 0.1% Tacrolimus Ointment in the Treatment of Pityriasis Alba Completed NCT01388517 Phase 4 Tacrolimus;Calcitriol;Petrolatum
6 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
7 Conventional Microneedling Compared to Microneedling Associated With 5-FU Infusion (Microinfusion of Medication Into the Skin - MMP) for Idiopathic Guttate Hypomelanosis (IGH) Repigmentation Recruiting NCT02904564 Phase 4 MMP with 5-FU;MMP with Saline infusion
8 Ranibizumab for Age-Related Macular Degeneration and the Risk of Arterial Thromboembolic Events (RATE) Terminated NCT01319188 Phase 4 0.5 mg of ranibizumab
9 Evaluation of the Formulation of 5-aminolevulinic Acid With Dimethylsulfoxide in Photodynamic Therapy for Treatment of Actinic Keratosis Completed NCT01459393 Phase 3 5-ALA Photodynamic Therapy;Cryotherapy with liquid nitrogen
10 Efficacy of Topical Pimecrolimus in the Treatment of Pityriasis Alba: A Randomized Placebo-controlled Trial Not yet recruiting NCT03834935 Phase 2, Phase 3 Elidel (pimecrolimus 1%);Cold Cream
11 Efficacy and Safety of Intralesional Triamcinolone Acetonide in Vitiligo: A Prospective, Double-Blind Randomized Controlled Trial Unknown status NCT01766609 Phase 2 Triamcinolone Acetonide
12 A Multi-center, Open-label Study to Examine the Safety and Toleration of 0.05% PEP005 Topical Gel in Patients With Actinic Keratoses on the Dorsum of the Hand Completed NCT00544297 Phase 2 PEP005 gel
13 An Open-label, Multi-centre, Dose-escalation, Cohort Study to Determine the Optimal Tolerated Regime and Safety of PEP005 Topical Gel When Applied to a 25 cm2 Contiguous Actinic Keratoses Treatment Area on the Face or Face and Scalp. Completed NCT00427050 Phase 2 PEP005
14 A Multi-center, Randomized, Double-blind, Double-dummy, Vehicle-controlled Sequential Cohort Study to Determine the Safety PEP005 0.025% and 0.05% Topical Gel in Patients With Actinic Keratoses. Completed NCT00375739 Phase 2 PEP005
15 An Open-label, Dose Escalation, Cohort Study to Determine the Maximum Tolerated Dose and Safety of PEP005 Topical Gel When Applied on Day 1 and Day 2 to Actinic Keratoses on the Shoulders, Chest, Back or Arms Followed by a Post-Treatment Follow-up Period Lasting at Four Weeks Completed NCT00239135 Phase 2 PEP005
16 Tolerability of Laser-assisted Cisplatin + 5-fluorouracil― an Exploratory Proof of Concept Study of Topical Combination Chemotherapy for Basal Cell Carcinoma Recruiting NCT03541252 Phase 1, Phase 2 AFL-assisted cisplatin+5-FU
17 Within-subject Randomized Clinical Trial Comparing Dual-mode ER:YAG Laser in Patients With Long Keloid/Hypertrophic Scars Withdrawn NCT02546076 Phase 2
18 Ginkgo Biloba for the Treatment of Vitiligo Vulgaris in Adolescents: an Open Label Pilot Clinical Trial Completed NCT00907062 Phase 1
19 A Phase I, Pharmacokinetic Study to Evaluate the Extent of Systemic Absorption of PEP005, When Applied as 0.05% PEP005 Topical Gel to a 100 cm2 (5 cm x 20 cm) Contiguous Actinic Keratosis(AK) Treatment Area on the Extensor (Dorsal Aspect) Forearm. Completed NCT00544258 Phase 1 PEP005
20 Efficacy of810 nm Diode Laser on Gingival Pigmentation Completed NCT02143375 Phase 1
21 A Phase I Study of the Immune Response to Herpes Simplex Virus Type 1 (HSV-1) and General Immune Health in Subjects Infected With HSV-1 Completed NCT03661541 Phase 1 Squaric Acid Dibutyl Ester
22 Evaluation of the Efficacy of Mixed Methylene Blue Compound Injection for the Treatment of Nonneoplastic Epithelial Disorders of Vulva. Active, not recruiting NCT03200808 Phase 1 mixed methylene blue compound injection
23 Tri-split Face Study of Skin Resurfacing Modalities for the Treatment of Melasma Not yet recruiting NCT02892071 Phase 1 22% TCA peel
24 Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol Terminated NCT01533376 Phase 1 Timolol;Preservative free artificial tear gel.
25 A Proof of Concept Cases Series on the Use of the Epidermal Expansion System to Harvest and Place Suction Blister Epidermal Grafts on Hypopigmented Skin and Surgical Wounds Unknown status NCT01590329
26 Treatment of Nonneoplastic Epithelial Disorders of Skin and Mucosa of Vulva With High Intensity Focused Ultrasound Unknown status NCT02890277 Fu Tiankang disposable vaginal filling suppository, Albothyl (Policresulen Solution) , and the gynecologic medical antimicrobial dressing gel (chitosan gel).
27 Effects of Arsenic on Keratinocytes in a Skin Equivalent Model Unknown status NCT00166946
28 A Single-Center Prospective, Open-Label Study of the Excel V 532 nm KTP Laser for the Treatment of Poikiloderma of Civatte Completed NCT01491620
29 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
30 Excimer Light Treatment for Idiopathic Guttate Hypomelanosis: A Pilot Study Completed NCT01956435
31 Skin and Serum Carotenoids in Preterm Infants Fed on a Formula Supplemented With Carotenoids Completed NCT00872664
32 Efficacy and Safety of Different Concentrations of Intralesional Triamcinolone Acetonide in Alopecia Areata: A Prospective, Randomized, Double-blind, Placebo-controlled Study Completed NCT01246284 Triamcinolone acetonide
33 Long-pulsed 1064 nm Nd:YAG Laser Treatment of Basal Cell Carcinoma Completed NCT02662244
34 Clinical, Cellular, and Molecular Investigations Into Oculocutaneous Albinism Recruiting NCT00808106
35 Understanding and Reversing Chronic Radiation Dermatitis - A Pilot Study Recruiting NCT01910818
36 Genetic Analysis of Hirschsprung Disease Recruiting NCT00478712
37 Hypo-pigmented Skin Lesions in Children : Dermoscopic Evaluation Not yet recruiting NCT04089475
38 The Role of Dermoscopy in Diagnosis of Pigmentary Skin Lesions Not yet recruiting NCT03542539
39 Photodynamic Therapy for Treatment of Cutaneous Squamous Cell Carcinoma in Situ Not yet recruiting NCT03025724 Levulan Kerastick
40 In Vivo Imaging of Pigmentary Disorders by Reflectance Confocal Microscopy Terminated NCT00771355
41 Autologous Cell Suspension Grafting Using ReNovaCell in Non-segmental Vitiligo Patients: a Randomized Controlled Study Terminated NCT03022019

Search NIH Clinical Center for Hypomelanotic Disorder

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Dihydroxyacetone

Genetic Tests for Hypomelanotic Disorder

Anatomical Context for Hypomelanotic Disorder

MalaCards organs/tissues related to Hypomelanotic Disorder:

40
Skin, Eye, Retina, Bone, T Cells, Brain, Heart

Publications for Hypomelanotic Disorder

Articles related to Hypomelanotic Disorder:

(show all 23)
# Title Authors PMID Year
1
Hypopigmentation in burns is associated with alterations in the architecture of the skin and the dendricity of the melanocytes. 61
31685389 2019
2
Mitochondrial NCKX5 regulates melanosomal biogenesis and pigment production. 61
31201282 2019
3
Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations. 61
31196117 2019
4
Different Advanced Therapeutic Approaches to Treat Vitiligo. 61
26756425 2015
5
Melanocytes and their diseases. 61
24789876 2014
6
Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. 61
23395477 2013
7
Mangosteen leaf extract increases melanogenesis in B16F1 melanoma cells by stimulating tyrosinase activity in vitro and by up-regulating tyrosinase gene expression. 61
22089762 2012
8
Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome? 61
20636395 2011
9
Ginkgo biloba for the treatment of vitilgo vulgaris: an open label pilot clinical trial. 61
21406109 2011
10
Polyglandular autoimmune diseases in a dermatological clinical setting: vitiligo-associated autoimmune diseases. 61
20395193 2010
11
Pimecrolimus for idiopathic guttate hypomelanosis. 61
20232585 2010
12
Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community. 61
20019752 2010
13
Efficacy and safety of topical tacrolimus for the treatment of face and neck vitiligo. 61
20175845 2010
14
Autoantigens in vitiligo identified by the serological selection of a phage-displayed melanocyte cDNA expression library. 61
19587696 2010
15
Ultrastructural and functional alterations of mitochondria in perilesional vitiligo skin. 61
19282153 2009
16
A systematic review of natural health product treatment for vitiligo. 61
18498646 2008
17
Autoantibody responses to melanocytes in the depigmenting skin disease vitiligo. 61
17289548 2007
18
Assessment of the immune system in 55 Iranian patients with vitiligo. 61
16268875 2005
19
Confetti-like lesions with hyperkeratosis: a novel ultraviolet-induced hypomelanotic disorder? 61
16029349 2005
20
Association of angiotensin converting enzyme gene I/D polymorphism of vitiligo in Korean population. 61
14717849 2004
21
Treatment of vitiligo: current methods and new approaches. 61
12967509 2003
22
A piebald family. 61
20948063 1996
23
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. 61
7920637 1994

Variations for Hypomelanotic Disorder

Expression for Hypomelanotic Disorder

Search GEO for disease gene expression data for Hypomelanotic Disorder.

Pathways for Hypomelanotic Disorder

GO Terms for Hypomelanotic Disorder

Sources for Hypomelanotic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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