MCID: HYP854
MIFTS: 21

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 59 29 6

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

UMLS via Orphanet 73 C0162835
Orphanet 59 ORPHA79376

Summaries for Hypopigmentation of the Skin

MalaCards based summary : Hypopigmentation of the Skin is related to genetic hypopigmentation of the skin and griscelli syndrome, and has symptoms including achromia of skin An important gene associated with Hypopigmentation of the Skin is TYR (Tyrosinase). Affiliated tissues include skin, myeloid and thyroid.

Related Diseases for Hypopigmentation of the Skin

Diseases related to Hypopigmentation of the Skin via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 genetic hypopigmentation of the skin 12.5
2 griscelli syndrome 11.4
3 griscelli syndrome, type 1 11.1
4 griscelli syndrome, type 2 11.1
5 griscelli syndrome, type 3 11.1
6 dowling-degos disease 1 10.0
7 heterochromia iridis 9.9
8 branchiootic syndrome 1 9.9
9 pustulosis of palm and sole 9.9
10 myeloid leukemia 9.9
11 psoriasis 9.9
12 waardenburg's syndrome 9.9
13 albinism 9.9
14 strabismus 9.5 TYR LOC107984363
15 skin/hair/eye pigmentation, variation in, 3 9.4 TYR LOC107984363
16 albinism, ocular, with sensorineural deafness 9.2 TYR LOC107984363

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

Drugs & Therapeutics for Hypopigmentation of the Skin

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

Inferred drug relations via UMLS 72 / 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:

41
Skin, Myeloid, Thyroid

Publications for Hypopigmentation of the Skin

Articles related to Hypopigmentation of the Skin:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Synchronous Triple Malignancies in an Indian Albino: A Case Report. 38
30364818 2018
2
Intralesional Injection of Triamcinolone Acetonide for Subcutaneous Lipoma causing Musculoskeletal and Neurologic Symptoms. 38
29785238 2018
3
Erythroderma and extensive poikiloderma - a rare initial presentation of dermatomyositis: a case report. 38
29571300 2018
4
A case series of imatinib-induced generalized hypopigmentation and progression of existing acquired dermal melanocytosis. 38
28481685 2017
5
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. 38
28585352 2017
6
Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl and her infant sibling. 38
28915118 2017
7
Mutational analysis of a Chinese family with oculocutaneous albinism type 2. 38
29050284 2017
8
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1. 38
28112372 2017
9
A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase. 38
28355352 2017
10
Clinical evaluation and molecular screening of a large consecutive series of albino patients. 38
27734839 2017
11
Atrophy and Depigmentation After Pretibial Corticosteroid Injection for Medial Tibial Stress Syndrome: Two Case Reports. 38
27632881 2016
12
Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia. 38
27416089 2016
13
How does agonistic behaviour differ in albino and pigmented fish? 38
27114883 2016
14
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. 38
26016411 2015
15
Hypomelanosis of Ito: a round on the frequency and type of epileptic complications. 38
25586695 2015
16
Seizure as the presenting manifestation in Griscelli syndrome type 2. 38
25801174 2015
17
[Cutaneous atrophy and hypopigmentation secondary to intra-articular corticosteroid injection]. 38
23583186 2014
18
The use of infrared radiation in the treatment of skin laxity. 38
24215421 2014
19
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II. 38
24361966 2014
20
Development of skin hypopigmentation in a patient with metastatic papillary carcinoma thyroid treated with Sorafenib. 38
23937803 2013
21
[An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals]. 38
23242301 2012
22
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. 38
22258527 2012
23
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. 38
21833017 2011
24
Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism. 38
21968107 2011
25
Clinical characteristics and hematologic responses to Imatinib in patients with chronic phase myeloid leukemia (CML) at Cipto Mangunkusumo Hospital. 38
20305324 2010
26
Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin. 38
20199465 2009
27
Hypopigmentation of the skin due to imatinib mesylate in patients with chronic myeloid leukemia. 38
20118061 2009
28
Oculocutaneous albinism type 1A: a case report. 38
19094851 2008
29
Oculocutaneous albinism. 38
17980020 2007
30
Vitiligo-like lesions and diffuse lightening of the skin in a pediatric patient treated with imatinib mesylate: a noninvasive colorimetric assessment. 38
16650231 2006
31
Menkes syndrome: a case report. 38
16858971 2005
32
Copper-replacement treatment for symptomatic Menkes disease: ethical considerations. 38
16098018 2005
33
Dyschromatosis universalis hereditaria: two cases in a Chinese family. 38
16045675 2005
34
Effectiveness of small-volume, intralesional, delayed-release triamcinolone injections in orofacial granulomatosis: a pilot study. 38
15280846 2004
35
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency 38
20301697 2004
36
Oculocutaneous Albinism Type 2 38
20301410 2003
37
Depigmenting action of phenylhydroquinone, an O-phenylphenol metabolite, on the skin of JY-4 black guinea-pigs. 38
12453187 2002
38
Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. 38
12125812 2002
39
[Skin manifestations of Fanconi anemia]. 38
12053693 2002
40
Hermansky-Pudlak Syndrome 38
20301464 2000
41
Oculocutaneous Albinism Type 1 38
20301345 2000
42
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. 38
10649493 2000
43
Albinism. 38
10590917 1999
44
Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking. 38
9759648 1998
45
Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe. 38
8592327 1995
46
A high-resolution linkage map of the lethal spotting locus: a mouse model for Hirschsprung disease. 38
7719019 1995
47
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. 38
8421497 1993
48
[Oculocutaneous albinism]. 38
1416662 1992
49
Piebaldism: an autonomous autosomal dominant entity. 38
1860249 1991
50
Genetic heterogeneity in tuberous sclerosis: phenotypic correlations. 38
2395158 1990

Variations for Hypopigmentation of the Skin

ClinVar genetic disease variations for Hypopigmentation of the Skin:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TYR NM_000372.5(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 11:88911386-88911386 11:89178218-89178218
2 TYR NM_000372.5(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 11:88911122-88911122 11:89177954-89177954
3 TYR NM_000372.5(TYR): c.1352A> G (p.Tyr451Cys) single nucleotide variant Likely pathogenic rs376823382 11:89018108-89018108 11:89284940-89284940
4 46;X;t(X;9)(p22.2;p13)dn Translocation Uncertain significance

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

Sources for Hypopigmentation of the Skin

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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