MCID: HYP855
MIFTS: 29

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 59 6 17

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

UMLS via Orphanet 73 C0162834
Orphanet 59 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, breast and bone, and related phenotypes are integument and hearing/vestibular/ear

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

MGI Mouse Phenotypes related to Hyperpigmentation of the Skin:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.46 COL7A1 GJB6 TP53 TWIST2
2 hearing/vestibular/ear MP:0005377 9.43 GJB6 TP53 TWIST2
3 normal MP:0002873 9.26 COL7A1 MFN2 TP53 TWIST2
4 skeleton MP:0005390 8.92 COL7A1 MFN2 TP53 TWIST2

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:

41
Skin, Breast, Bone, Pituitary, Retina, Skeletal Muscle, Cortex

Publications for Hyperpigmentation of the Skin

Articles related to Hyperpigmentation of the Skin:

(show top 50) (show all 184)
# Title Authors PMID Year
1
A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia. 38
31435881 2019
2
'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. 38
30669824 2019
3
Bilateral adrenal myelolipomas presenting as acute adrenal insufficiency in an adult with congenital adrenal hyperplasia. 38
30739087 2019
4
Porphyria Cutanea Tarda Associated With Acute Hemorrhagic Pancreatitis. 38
31155958 2019
5
Aminoluciferin 4-hydroxyphenyl amide enables bioluminescence detection of endogenous tyrosinase. 38
30467562 2018
6
3-hydroxycoumarin loaded vesicles for recombinant human tyrosinase inhibition in topical applications. 38
30107341 2018
7
Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1. 38
30090628 2018
8
Green Bone: Minocycline-Induced Discoloration of Bone Rarely Reported in Foot and Ankle. 38
29748107 2018
9
Downregulation of α-Melanocyte-Stimulating Hormone-Induced Activation of the Pax3-MITF-Tyrosinase Axis by Sorghum Ethanolic Extract in B16F10 Melanoma Cells. 38
29865165 2018
10
Histopathological findings in pregnancy associated cutaneous hyperpigmentation. 38
29345316 2018
11
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. 38
28710566 2018
12
Laugier-Hunziker syndrome in endocrine clinical practice. 38
30087778 2018
13
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. 38
29604530 2018
14
Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity. 38
28926831 2018
15
Histopathologic Findings of Cutaneous Hyperpigmentation in Addison Disease and Immunostain of the Melanocytic Population. 38
28609345 2017
16
Nail Matrix Pathology in Cronkhite-Canada Syndrome: The First Case Report. 38
29058694 2017
17
CK1α ablation in keratinocytes induces p53-dependent, sunburn-protective skin hyperpigmentation. 38
28878021 2017
18
Multifocal oral melanoacanthoma associated with Addison's disease and hyperthyroidism: a case report. 38
28658350 2017
19
Tranexamic acid in treatment of melasma: A comprehensive review of clinical studies. 38
28133910 2017
20
Amyloidosis Cutis Dyschromica, a Rare Cause of Hyperpigmentation: A New Case and Literature Review. 38
28557715 2017
21
Minocycline-induced hyperpigmentation of the skin, sclera, and palpebral conjunctiva. 38
28457312 2017
22
[A woman with hyperpigmentation and dark urine]. 38
29303091 2017
23
Diffuse cutaneous melanosis: rare complication of metastatic melanoma. 38
29267449 2017
24
[Post-inflammatory hyperpigmentation]. 38
29452653 2016
25
Amitriptyline-induced cutaneous hyperpigmentation: case report and review of psychotropic drug-associated mucocutaneous hyperpigmentation. 38
27267189 2016
26
Tigecycline Induced Hyperpigmentation of the Skin. 38
27011952 2016
27
Cronkhite-Canada Syndrome: A Rare Cause of Chronic Diarrhoea in a Young Man. 38
26941798 2016
28
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. 38
27999648 2016
29
Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis-A Case Report. 38
26207694 2015
30
Baicalin-induced Akt activation decreases melanogenesis through downregulation of microphthalmia-associated transcription factor and tyrosinase. 38
25934572 2015
31
Benzanthrone induced immunotoxicity via oxidative stress and inflammatory mediators in Balb/c mice. 38
25454808 2015
32
Outcomes in pituitary surgery in Nelson's syndrome--therapeutic pitfalls. 38
26662649 2015
33
Hydroxychloroquine-induced hyperpigmentation of the skin. 38
25554808 2015
34
Acquired universal melanosis (carbon baby syndrome). 38
23331086 2014
35
Clinical and radiological observations in a case series of 26 patients with fibrous dysplasia. 38
24390518 2014
36
Dyskeratosis congenita in a Nigerian boy. 38
24791055 2014
37
[A neonate with dark brown coloured buttocks and upper legs]. 38
24423489 2014
38
[Terra firma-forme dermatosis]. 38
24206804 2013
39
Clinical and neurological findings of severe vitamin B12 deficiency in infancy and importance of early diagnosis and treatment. 38
23781950 2013
40
Inhibitory effect of liposome-encapsulated anthocyanin on melanogenesis in human melanocytes. 38
23570521 2013
41
Drug-induced hperpigemntation: a systematic review. 38
23650908 2013
42
X-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature. 38
23613254 2013
43
Secondary hyperpigmentation during interferon alfa treatment for chronic hepatitis C virus infection. 38
23553009 2013
44
Recreational nitrous oxide abuse-induced vitamin B12 deficiency in a patient presenting with hyperpigmentation of the skin. 38
23898268 2013
45
Persistent serpentine supravenous hyperpigmentation--a possible cutaneous manifestation of HIV infection or a normal racial variant: a report of 3 cases. 38
23745227 2013
46
Quantitative near infrared spectroscopic analysis of Q-Switched Nd:YAG treatment of generalized argyria. 38
23322674 2013
47
Mechanisms underlying post-inflammatory hyperpigmentation: lessons from solar lentigo. 38
23522630 2012
48
[Mechanisms underlying post-inflammatory hyperpigmentation: lessons from solar lentigo]. 38
23260525 2012
49
Manassantin B inhibits melanosome transport in melanocytes by disrupting the melanophilin-myosin Va interaction. 38
22863119 2012
50
A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workup. 38
22814974 2012

Variations for Hyperpigmentation of the Skin

ClinVar genetic disease variations for Hyperpigmentation of the Skin:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 3:48630348-48630348 3:48592915-48592915
2 MFN2 NM_014874.3(MFN2): c.280C> T (p.Arg94Trp) single nucleotide variant Pathogenic rs119103263 1:12052716-12052716 1:11992659-11992659
3 COL7A1 NM_000094.3(COL7A1): c.6205C> T (p.Arg2069Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121912855 3:48612651-48612651 3:48575218-48575218
4 46;X;inv(X)(q26q28)dn inversion Uncertain significance
5 46;Y;inv(X)(q27q28) inversion Uncertain significance
6 complex Uncertain significance

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 autophagy GO:0006914 9.16 TP53 MFN2
2 cell cycle arrest GO:0007050 8.96 TP53 MFN2
3 apoptotic process GO:0006915 8.8 TP53 MFN2 GJB6

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 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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