MCID: HYP854
MIFTS: 22

Hypopigmentation of the Skin

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Hypopigmentation of the Skin

MalaCards integrated aliases for Hypopigmentation of the Skin:

Name: Hypopigmentation of the Skin 58 29 6

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

UMLS via Orphanet 72 C0162835
Orphanet 58 ORPHA79376

Summaries for Hypopigmentation of the Skin

MalaCards based summary : Hypopigmentation of the Skin is related to griscelli syndrome and hermansky-pudlak syndrome, and has symptoms including achromia of skin An important gene associated with Hypopigmentation of the Skin is TYR (Tyrosinase). Affiliated tissues include skin and myeloid, and related phenotypes are no phenotypic analysis and pigmentation

Related Diseases for Hypopigmentation of the Skin

Graphical network of the top 20 diseases related to Hypopigmentation of the Skin:



Diseases related to Hypopigmentation of the Skin

Symptoms & Phenotypes for Hypopigmentation of the Skin

UMLS symptoms related to Hypopigmentation of the Skin:


achromia of skin

MGI Mouse Phenotypes related to Hypopigmentation of the Skin:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.96 HPS3 TYR
2 pigmentation MP:0001186 8.62 HPS3 TYR

Drugs & Therapeutics for Hypopigmentation of the Skin

Search Clinical Trials , NIH Clinical Center for Hypopigmentation of the Skin

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Dihydroxyacetone

Genetic Tests for Hypopigmentation of the Skin

Genetic tests related to Hypopigmentation of the Skin:

# Genetic test Affiliating Genes
1 Hypopigmentation of the Skin 29

Anatomical Context for Hypopigmentation of the Skin

MalaCards organs/tissues related to Hypopigmentation of the Skin:

40
Skin, Myeloid

Publications for Hypopigmentation of the Skin

Articles related to Hypopigmentation of the Skin:

(show top 50) (show all 62)
# Title Authors PMID Year
1
Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome. 61
33526817 2021
2
Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing. 61
33599182 2021
3
Case of vitiligo universalis as a sequela of drug-induced hypersensitivity syndrome. 61
33180345 2021
4
Current and emerging treatments for albinism. 61
33129801 2020
5
Renpenning syndrome in a female. 61
31840929 2020
6
Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky-Pudlak syndrome type 3. 61
31621111 2020
7
Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene. 61
31486119 2019
8
Synchronous Triple Malignancies in an Indian Albino: A Case Report. 61
30364818 2018
9
Intralesional Injection of Triamcinolone Acetonide for Subcutaneous Lipoma causing Musculoskeletal and Neurologic Symptoms. 61
29785238 2018
10
Erythroderma and extensive poikiloderma - a rare initial presentation of dermatomyositis: a case report. 61
29571300 2018
11
A case series of imatinib-induced generalized hypopigmentation and progression of existing acquired dermal melanocytosis. 61
28481685 2017
12
Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl and her infant sibling. 61
28915118 2017
13
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. 61
28585352 2017
14
Mutational analysis of a Chinese family with oculocutaneous albinism type 2. 61
29050284 2017
15
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1. 61
28112372 2017
16
A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase. 61
28355352 2017
17
Clinical evaluation and molecular screening of a large consecutive series of albino patients. 61
27734839 2017
18
Atrophy and Depigmentation After Pretibial Corticosteroid Injection for Medial Tibial Stress Syndrome: Two Case Reports. 61
27632881 2016
19
Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia. 61
27416089 2016
20
How does agonistic behaviour differ in albino and pigmented fish? 61
27114883 2016
21
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. 61
26016411 2015
22
Hypomelanosis of Ito: a round on the frequency and type of epileptic complications. 61
25586695 2015
23
Seizure as the presenting manifestation in Griscelli syndrome type 2. 61
25801174 2015
24
[Cutaneous atrophy and hypopigmentation secondary to intra-articular corticosteroid injection]. 61
23583186 2014
25
The use of infrared radiation in the treatment of skin laxity. 61
24215421 2014
26
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II. 61
24361966 2014
27
Development of skin hypopigmentation in a patient with metastatic papillary carcinoma thyroid treated with Sorafenib. 61
23937803 2013
28
[An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals]. 61
23242301 2012
29
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. 61
22258527 2012
30
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. 61
21833017 2011
31
Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism. 61
21968107 2011
32
Clinical characteristics and hematologic responses to Imatinib in patients with chronic phase myeloid leukemia (CML) at Cipto Mangunkusumo Hospital. 61
20305324 2010
33
Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin. 61
20199465 2009
34
Hypopigmentation of the skin due to imatinib mesylate in patients with chronic myeloid leukemia. 61
20118061 2009
35
Oculocutaneous albinism type 1A: a case report. 61
19094851 2008
36
Oculocutaneous albinism. 61
17980020 2007
37
Vitiligo-like lesions and diffuse lightening of the skin in a pediatric patient treated with imatinib mesylate: a noninvasive colorimetric assessment. 61
16650231 2006
38
Menkes syndrome: a case report. 61
16858971 2005
39
Copper-replacement treatment for symptomatic Menkes disease: ethical considerations. 61
16098018 2005
40
Dyschromatosis universalis hereditaria: two cases in a Chinese family. 61
16045675 2005
41
Effectiveness of small-volume, intralesional, delayed-release triamcinolone injections in orofacial granulomatosis: a pilot study. 61
15280846 2004
42
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency 61
20301697 2004
43
Oculocutaneous Albinism Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301410 2003
44
Depigmenting action of phenylhydroquinone, an O-phenylphenol metabolite, on the skin of JY-4 black guinea-pigs. 61
12453187 2002
45
Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. 61
12125812 2002
46
[Skin manifestations of Fanconi anemia]. 61
12053693 2002
47
Hermansky-Pudlak Syndrome 61
20301464 2000
48
Oculocutaneous Albinism Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301345 2000
49
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. 61
10649493 2000
50
Albinism. 61
10590917 1999

Variations for Hypopigmentation of the Skin

ClinVar genetic disease variations for Hypopigmentation of the Skin:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TYR NM_000372.5(TYR):c.1A>G (p.Met1Val) SNV Pathogenic 3807 rs28940881 11:88911122-88911122 11:89177954-89177954
2 TYR NM_000372.5(TYR):c.265T>C (p.Cys89Arg) SNV Pathogenic 3781 rs28940877 11:88911386-88911386 11:89178218-89178218
3 TYR NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) SNV Likely pathogenic 523363 rs376823382 11:89018108-89018108 11:89284940-89284940

Expression for Hypopigmentation of the Skin

Search GEO for disease gene expression data for Hypopigmentation of the Skin.

Pathways for Hypopigmentation of the Skin

GO Terms for Hypopigmentation of the Skin

Biological processes related to Hypopigmentation of the Skin according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 8.62 TYR HPS3

Sources for Hypopigmentation of the Skin

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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