MCID: DLT018
MIFTS: 36

Dilution, Pigmentary

Categories: Eye diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Dilution, Pigmentary

MalaCards integrated aliases for Dilution, Pigmentary:

Name: Dilution, Pigmentary 57 28
Hypopigmentation 57 19 75
Albinoidism, Oculocutaneous, Autosomal Dominant 57 71
Hypomelanotic Disorder 19 75
Hypopigmentation Disorder 71
Albinism, Partial 57

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

OMIM® 57 126070
MedGen 40 C1876214
UMLS 71 C0162835 C1876214

Summaries for Dilution, Pigmentary

MalaCards based summary: Dilution, Pigmentary, also known as hypopigmentation, is related to oculocerebral syndrome with hypopigmentation and tietz albinism-deafness syndrome, and has symptoms including achromia of skin The drugs Fluorouracil and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and breast, and related phenotypes are hypopigmentation of hair and hypopigmentation of the fundus

Wikipedia 75 Hypomelanotic disorder: Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers,... more...

Hypopigmentation: Hypopigmentation is characterized specifically as an area of skin becoming lighter than the baseline... more...

More information 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 341)
# Related Disease Score Top Affiliating Genes
1 oculocerebral syndrome with hypopigmentation 11.6
2 tietz albinism-deafness syndrome 11.6
3 yemenite deaf-blind hypopigmentation syndrome 11.6
4 vici syndrome 11.5
5 hyperpigmentation with or without hypopigmentation, familial progressive 11.5
6 griscelli syndrome 11.5
7 oculocerebral hypopigmentation syndrome of preus 11.5
8 hypopigmentation, organomegaly, and delayed myelination and development 11.4
9 piebald trait 11.4
10 cole disease 11.4
11 osteoporosis and oculocutaneous hypopigmentation syndrome 11.4
12 griscelli syndrome, type 2 11.3
13 griscelli syndrome, type 1 11.3
14 waardenburg syndrome, type 2e 11.2
15 hypopigmentation of the skin 11.2
16 aland island eye disease 11.2
17 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies 11.2
18 hypopigmentation of eyelid 11.1
19 albinism, ocular, type i 11.1
20 oculocutaneous albinism, type viii 11.1
21 reticulate acropigmentation of kitamura 11.1
22 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss 11.1
23 hypomelanosis of ito 11.0
24 ermine phenotype 11.0
25 revesz syndrome 11.0
26 albinism, oculocutaneous, type ib 11.0
27 albinism, oculocutaneous, type vii 11.0
28 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 11.0
29 oculocutaneous albinism 10.9
30 raindrop hypopigmentation 10.9
31 albinism, oculocutaneous, type ii 10.9
32 genetic hypopigmentation of the skin 10.9
33 chediak-higashi syndrome 10.9
34 albinism, oculocutaneous, type ia 10.9
35 elejalde neuroectodermal melanolysosomal syndrome 10.9
36 menkes disease 10.9
37 albinism, oculocutaneous, type iv 10.9
38 griscelli syndrome, type 3 10.9
39 anonychia with flexural pigmentation 10.8
40 dyschromatosis universalis hereditaria 1 10.8
41 epidermolysis bullosa simplex 2f, with mottled pigmentation 10.8
42 retinitis pigmentosa 91 10.8
43 microcoria, congenital 10.8
44 vitreoretinochoroidopathy 10.8
45 bloom syndrome 10.8
46 fanconi anemia, complementation group a 10.8
47 cartilage-hair hypoplasia 10.8
48 albinism-deafness syndrome 10.8
49 incontinentia pigmenti 10.8
50 poikiloderma with neutropenia 10.8

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmentation of hair 30 HP:0005599
2 hypopigmentation of the fundus 30 HP:0007894
3 iris hypopigmentation 30 HP:0007730
4 hypopigmentation of the skin 30 HP:0001010

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 (Updated 24-Oct-2022)

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 all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorouracil Approved Phase 4 51-21-8 3385
2 Antimetabolites Phase 4
3 Immunosuppressive Agents Phase 4
4 Immunologic Factors Phase 4
5 Anesthetics Phase 4
6 Chrysarobin Phase 1
7
Lidocaine Approved, Vet_approved 137-58-6 3676
8 Hemostatics
9 Interleukin-23 Early Phase 1
10 Anti-Inflammatory Agents, Non-Steroidal Early Phase 1
11 Anti-Inflammatory Agents Early Phase 1

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Conventional Microneedling Compared to Microneedling Associated With 5-FU Infusion (Microinfusion of Medication Into the Skin - MMP) for Idiopathic Guttate Hypomelanosis (IGH) Repigmentation Unknown status NCT02904564 Phase 4 MMP with 5-FU;MMP with Saline infusion
2 The Adjunctive Effect of Injectable Platelet Rich Fibrin on Healing and Patient Satisfaction Following Laser Gingival Depigmentation (A Randomized Clinical Trial With Histological Analysis) Completed NCT05283668 Phase 4
3 Efficacy of810 nm Diode Laser on Gingival Pigmentation Completed NCT02143375 Phase 1
4 Clinical Comparison of the Effect of Non-eugenol Containing Periodontal Pack With and Without Platelet Rich Fibrin on Post-operative Pain and Wound Healing After Surgical Gingival Depigmentation: A Randomized Clinical Trial Unknown status NCT04495205 Early Phase 1
5 A Comparative Evaluation of Various Patient Centered Outcomes Following Gingival Depigmentation Using Diode LASER in Different Modes: A Randomized Clinical Trial Unknown status NCT04217434
6 Hypo-pigmented Skin Lesions in Children : Dermoscopic Evaluation Unknown status NCT04089475
7 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
8 Microneedling for Acquired Hypomelanosis : A Randomized Controlled Trial Completed NCT04419350
9 Gingival Depigmentation With Er,Cr:YSGG and Diode Laser: Randomized Clinical Trial to Evaluate the Repigmentation and Patient Perceptions Completed NCT04680806
10 Excimer Light Treatment for Idiopathic Guttate Hypomelanosis: A Pilot Study Completed NCT01956435
11 Pilot Study Assessing the Effect of Tildrakizumab in Vitiligo Recruiting NCT04971200 Early Phase 1 Tildrakizumab
12 Evaluation of Treatment for Leukoderma by Cellular Level Resolution Full-field Optical Coherence Tomography Recruiting NCT04935424
13 In Vivo Imaging of Pigmentary Disorders by Reflectance Confocal Microscopy Terminated NCT00771355

Search NIH Clinical Center for Dilution, Pigmentary

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


Dihydroxyacetone

Genetic Tests for Dilution, Pigmentary

Genetic tests related to Dilution, Pigmentary:

# Genetic test Affiliating Genes
1 Dilution, Pigmentary 28

Anatomical Context for Dilution, Pigmentary

Organs/tissues related to Dilution, Pigmentary:

MalaCards : Skin, Eye, Breast, Myeloid, Brain, Bone Marrow, Thyroid

Publications for Dilution, Pigmentary

Articles related to Dilution, Pigmentary:

(show top 50) (show all 2524)
# Title Authors PMID Year
1
[Familial oculo-cutaneous hypopigmentation of dominant transmission due to a disorder in melanocyte formation. Association of Prader-Willi syndrome with a chromosome abnormality in one of the subjects involved]. 62 57
413191 1977
2
Depigmentations of the general and oral tissues and their genetic foundations. 57
397773 1979
3
A new form of albinism. 57
4833873 1974
4
Evaluation of the efficacy and safety of Unani Formulations in Pityriasis Versicolor: A randomized controlled trial. 62
35940465 2022
5
Evaluation of low-to-moderate arsenic exposure, metabolism and skin lesions in a Turkish rural population exposed through drinking water. 62
35688195 2022
6
Identification of differential methylome signatures of white pigmented skin patches in Nili Ravi buffalo of India. 62
36239068 2022
7
Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo. 62
35964929 2022
8
(+)-Magnolin Enhances Melanogenesis in Melanoma Cells and Three-Dimensional Human Skin Equivalent; Involvement of PKA and p38 MAPK Signaling Pathways. 62
35211932 2022
9
Linear Atrophy and Cutaneous Hypopigmentation After an Intralesional Corticosteroid Injection: A Rare Adverse Effect. 62
36220384 2022
10
Comparison of the safety and efficacy of low fluence Q-switched 1064-nm and conventional Q-Switched 755-nm lasers in the treatment of café-au-lait macules: A prospective self-controlled trial. 62
36084202 2022
11
Treatment of facial pigmented disorders with a 785-nm picosecond Ti:sapphire laser in Asians: A report of three cases. 62
36214374 2022
12
EPG5-Related Disorder 62
36228046 2022
13
S2k guideline: Laser therapy of the skin. 62
36098675 2022
14
Hypopigmented penile fixed drug eruption. 62
36188052 2022
15
Treatment of Nevus of Ota in Black patients with the 1064 nm QS or picosecond laser and nonablative fractional photothermolysis. 62
36124432 2022
16
[Frontal hypopigmentation with band-like alopecia]. 62
35347356 2022
17
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma. 62
35475527 2022
18
Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss. 62
35543077 2022
19
Shining Light on Autophagy in Skin Pigmentation and Pigmentary Disorders. 62
36230960 2022
20
Differential Involvement of the Locus Coeruleus in Early- and Late-Onset Alzheimer's Disease: A Potential Mechanism of Clinical Differences? 62
34496652 2022
21
Laser therapy for treating hypertrophic and keloid scars. 62
36161591 2022
22
Genetic analyses of Vietnamese patients with oculocutaneous albinism. 62
35870188 2022
23
Severe Persistent Urticaria Following Laser Hair Reduction. 62
36106510 2022
24
Chemical Composition and Tyrosinase Inhibitory Activities of Fatty Acids Obtained from Heterotrophic Microalgae, S. limacinum and C. cohnii. 62
36083430 2022
25
Foveal hypoplasia in parents of patients with albinism. 62
36098180 2022
26
PMEL is mutated in oculocutaneous albinism. 62
36166100 2022
27
Single and combined 1064 nm Q-switched Nd: YAG laser therapy in melasma: A meta-analysis. 62
35876484 2022
28
Comparison of the effect of ketorolac versus triamcinolone acetonide injections for the treatment of de Quervain's tenosynovitis: a double-blind randomized controlled trial. 62
36050704 2022
29
Intralesional bleomycin versus intralesional triamcinolone in the treatment of keloids and hypertrophic scars. 62
35871490 2022
30
Outcomes and Complications of Corticosteroid Injection of Rheumatoid Nodules. 62
36061476 2022
31
Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation. 62
34326501 2022
32
Treatment of pyogenic granuloma in children with a 595 nm pulsed dye laser: A retrospective study of 212 patients. 62
35395702 2022
33
A Comparative Study of Dermatoscopic Features of Acne-related Postinflammatory Hyperpigmentation in Facial and Nonfacial Areas in Asian Patients. 62
36061483 2022
34
Drs. Chung and McMahan reply. 62
35970522 2022
35
Comparative efficacy of intralesional 5 flurouracil and intralesional triamcinolone acetonide in localized plaque psoriasis. 62
36039604 2022
36
Erasmus Syndrome: A Case Report and Literature Review. 62
35947536 2022
37
Human milk oligosaccharide 2'-fucosyllactose promotes melanin degradation via the autophagic AMPK-ULK1 signaling axis. 62
35977966 2022
38
What are the factors associated with the duration of remission of intra-articular corticosteroid injection in juvenile idiopathic arthritis? 62
35953685 2022
39
Multi-biomarker approach and IBR index to evaluate the effects of bisphenol A on embryonic stages of zebrafish (Danio rerio). 62
35835282 2022
40
Obesity and Hyperphagia With Increased Defective ACTH: A Novel POMC Variant. 62
35737586 2022
41
Potential di-genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex. 62
35960249 2022
42
Treatment of acne scars with fractional carbon dioxide laser in Asians: a retrospective study to search for predicting factors associated with efficacy. 62
35220459 2022
43
Neonatal Onset of Hemophagocytic Lymphohistiocytosis Due to Prenatal Varicella-Zoster Infection in a Neonate with Griscelli Syndrome Type 2. 62
36243938 2022
44
A systematic exploration reveals the potential of spermidine for hypopigmentation treatment through the stabilization of melanogenesis-associated proteins. 62
36008447 2022
45
Extensive blaschkoid hypopigmentation in a girl with MED12-related disorder. 62
36017700 2022
46
A rare case of unilateral acral speckled hypopigmentation. 62
34865220 2022
47
Photosensitivity and filter efficacy in albinism✰. 62
36028395 2022
48
[Analysis of a case with Mowat-Wilson syndrome due to nonsense variant of ZEB2 gene]. 62
35929943 2022
49
New-Onset Salt-and-Pepper Skin Changes Associated With Vaccination and Trauma in Systemic Sclerosis: Immunity Matters. 62
35970530 2022
50
Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report. 62
35790984 2022

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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