MCID: HYP855
MIFTS: 27

Hyperpigmentation of the Skin

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Hyperpigmentation of the Skin

MalaCards integrated aliases for Hyperpigmentation of the Skin:

Name: Hyperpigmentation of the Skin 58 6 17

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

UMLS via Orphanet 72 C0162834
Orphanet 58 ORPHA79375

Summaries for Hyperpigmentation of the Skin

MalaCards based summary : Hyperpigmentation of the Skin is related to genetic hyperpigmentation of the skin and acanthosis nigricans. An important gene associated with Hyperpigmentation of the Skin is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are Factors involved in megakaryocyte development and platelet production and Mitophagy - animal. Affiliated tissues include skin, pituitary and breast.

Related Diseases for Hyperpigmentation of the Skin

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



Diseases related to Hyperpigmentation of the Skin

Symptoms & Phenotypes for Hyperpigmentation of the Skin

Drugs & Therapeutics for Hyperpigmentation of the Skin

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

Genetic Tests for Hyperpigmentation of the Skin

Anatomical Context for Hyperpigmentation of the Skin

MalaCards organs/tissues related to Hyperpigmentation of the Skin:

40
Skin, Pituitary, Breast, Bone, Cortex, Retina, Skeletal Muscle

Publications for Hyperpigmentation of the Skin

Articles related to Hyperpigmentation of the Skin:

(show top 50) (show all 189)
# Title Authors PMID Year
1
A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia. 61
31435881 2020
2
Palladium causes bizarre skin hyperpigmentation in long-term dihydrocodeinone 'Braun' abusers. 61
31494978 2020
3
[Christmas article: Christmas-related exogenous palmar hyperpigmentation]. 61
31908261 2019
4
Oxandrolone for treatment of lipodermatosclerosis: case report. 61
31723343 2019
5
ADRENAL INSUFFICIENCY CAUSED BY PARACOCCIDIOIDOMYCOSIS: THREE CASE REPORTS AND REVIEW. 61
31967043 2019
6
'Need of the Hour': Early Diagnosis and Management of Multidrug Resistant Tuberculosis of the Spine: An Analysis of 30 Patients from a "High Multidrug Resistant Tuberculosis Burden" Country. 61
30669824 2019
7
Bilateral adrenal myelolipomas presenting as acute adrenal insufficiency in an adult with congenital adrenal hyperplasia. 61
30739087 2019
8
Porphyria Cutanea Tarda Associated With Acute Hemorrhagic Pancreatitis. 61
31155958 2019
9
Efficacy and safety of 1927 nm fractional Thulium fiber laser for the treatment of melasma: a retrospective study of 100 patients. 61
31690148 2019
10
Aminoluciferin 4-hydroxyphenyl amide enables bioluminescence detection of endogenous tyrosinase. 61
30467562 2018
11
3-hydroxycoumarin loaded vesicles for recombinant human tyrosinase inhibition in topical applications. 61
30107341 2018
12
Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1. 61
30090628 2018
13
Green Bone: Minocycline-Induced Discoloration of Bone Rarely Reported in Foot and Ankle. 61
29748107 2018
14
Downregulation of α-Melanocyte-Stimulating Hormone-Induced Activation of the Pax3-MITF-Tyrosinase Axis by Sorghum Ethanolic Extract in B16F10 Melanoma Cells. 61
29865165 2018
15
Histopathological findings in pregnancy associated cutaneous hyperpigmentation. 61
29345316 2018
16
Remarkable effects of imatinib in a family with young onset gastrointestinal stromal tumors and cutaneous hyperpigmentation associated with a germline KIT-Trp557Arg mutation: case report and literature overview. 61
28710566 2018
17
Laugier-Hunziker syndrome in endocrine clinical practice. 61
30087778 2018
18
Double cross finger flaps from the middle to the index or ring finger: A case series of 4 patients with an emphasis on donor finger morbidity. 61
29604530 2018
19
Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity. 61
28926831 2018
20
Histopathologic Findings of Cutaneous Hyperpigmentation in Addison Disease and Immunostain of the Melanocytic Population. 61
28609345 2017
21
Nail Matrix Pathology in Cronkhite-Canada Syndrome: The First Case Report. 61
29058694 2017
22
CK1α ablation in keratinocytes induces p53-dependent, sunburn-protective skin hyperpigmentation. 61
28878021 2017
23
Multifocal oral melanoacanthoma associated with Addison's disease and hyperthyroidism: a case report. 61
28658350 2017
24
Tranexamic acid in treatment of melasma: A comprehensive review of clinical studies. 61
28133910 2017
25
Amyloidosis Cutis Dyschromica, a Rare Cause of Hyperpigmentation: A New Case and Literature Review. 61
28557715 2017
26
Minocycline-induced hyperpigmentation of the skin, sclera, and palpebral conjunctiva. 61
28457312 2017
27
[A woman with hyperpigmentation and dark urine]. 61
29303091 2017
28
Diffuse cutaneous melanosis: rare complication of metastatic melanoma. 61
29267449 2017
29
[Post-inflammatory hyperpigmentation]. 61
29452653 2016
30
Amitriptyline-induced cutaneous hyperpigmentation: case report and review of psychotropic drug-associated mucocutaneous hyperpigmentation. 61
27267189 2016
31
Tigecycline Induced Hyperpigmentation of the Skin. 61
27011952 2016
32
Cronkhite-Canada Syndrome: A Rare Cause of Chronic Diarrhoea in a Young Man. 61
26941798 2016
33
Comparison of long-pulsed alexandrite laser and topical tretinoin-ammonium lactate in axillary acanthosis nigricans: A case series of patients in a before-after trial. 61
27999648 2016
34
Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis-A Case Report. 61
26207694 2015
35
Baicalin-induced Akt activation decreases melanogenesis through downregulation of microphthalmia-associated transcription factor and tyrosinase. 61
25934572 2015
36
Benzanthrone induced immunotoxicity via oxidative stress and inflammatory mediators in Balb/c mice. 61
25454808 2015
37
Outcomes in pituitary surgery in Nelson's syndrome--therapeutic pitfalls. 61
26662649 2015
38
Hydroxychloroquine-induced hyperpigmentation of the skin. 61
25554808 2015
39
Acquired universal melanosis (carbon baby syndrome). 61
23331086 2014
40
Clinical and radiological observations in a case series of 26 patients with fibrous dysplasia. 61
24390518 2014
41
Dyskeratosis congenita in a Nigerian boy. 61
24791055 2014
42
[A neonate with dark brown coloured buttocks and upper legs]. 61
24423489 2014
43
[Terra firma-forme dermatosis]. 61
24206804 2013
44
Clinical and neurological findings of severe vitamin B12 deficiency in infancy and importance of early diagnosis and treatment. 61
23781950 2013
45
Inhibitory effect of liposome-encapsulated anthocyanin on melanogenesis in human melanocytes. 61
23570521 2013
46
Drug-induced hperpigemntation: a systematic review. 61
23650908 2013
47
X-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature. 61
23613254 2013
48
Secondary hyperpigmentation during interferon alfa treatment for chronic hepatitis C virus infection. 61
23553009 2013
49
Recreational nitrous oxide abuse-induced vitamin B12 deficiency in a patient presenting with hyperpigmentation of the skin. 61
23898268 2013
50
Persistent serpentine supravenous hyperpigmentation--a possible cutaneous manifestation of HIV infection or a normal racial variant: a report of 3 cases. 61
23745227 2013

Variations for Hyperpigmentation of the Skin

ClinVar genetic disease variations for Hyperpigmentation of the Skin:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MFN2 NM_014874.3(MFN2):c.280C>T (p.Arg94Trp)SNV Pathogenic 2276 rs119103263 1:12052716-12052716 1:11992659-11992659
2 COL7A1 NM_000094.3(COL7A1):c.706C>T (p.Arg236Ter)SNV Pathogenic 17462 rs121912854 3:48630348-48630348 3:48592915-48592915
3 COL7A1 NM_000094.3(COL7A1):c.6205C>T (p.Arg2069Cys)SNV Pathogenic/Likely pathogenic 17463 rs121912855 3:48612651-48612651 3:48575218-48575218
4 46;X;inv(X)(q26q28)dninversion Uncertain significance 267819
5 46;Y;inv(X)(q27q28)inversion Uncertain significance 267831
6 46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dncomplex Uncertain significance 267835

Expression for Hyperpigmentation of the Skin

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

Pathways for Hyperpigmentation of the Skin

Pathways related to Hyperpigmentation of the Skin according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.15 TP53 MFN2
2 10.44 TP53 MFN2

GO Terms for Hyperpigmentation of the Skin

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

# Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.16 TP53 MFN2
2 apoptotic process GO:0006915 9.13 TP53 MFN2 GJB6
3 negative regulation of smooth muscle cell proliferation GO:0048662 8.62 TP53 MFN2

Sources for Hyperpigmentation of the Skin

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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