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 skin disease and genetic hyperpigmentation of the skin. 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 phenotype is normal.

Related Diseases for Hyperpigmentation of the Skin

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 skin disease 29.1 TP53 GJB6 COL7A1
2 genetic hyperpigmentation of the skin 12.5
3 acanthosis nigricans 11.1
4 clouston syndrome 11.1
5 gastrocutaneous syndrome 11.1
6 carney complex, type 1 11.1
7 naegeli-franceschetti-jadassohn syndrome 11.1
8 focal facial dermal dysplasia 3, setleis type 11.1
9 familial glucocorticoid deficiency 11.1
10 dowling-degos disease 1 10.6
11 vitamin b12 deficiency 10.0
12 megaloblastic anemia 10.0
13 recessive dystrophic epidermolysis bullosa 10.0 TP53 COL7A1
14 oculodentodigital dysplasia 9.9 TWIST2 GJB6
15 scleroderma, familial progressive 9.8
16 chediak-higashi syndrome 9.8
17 proteasome-associated autoinflammatory syndrome 1 9.8
18 ataxia and polyneuropathy, adult-onset 9.8
19 polyneuropathy 9.8
20 pituitary adenoma 9.8
21 neurotic disorder 9.8
22 nelson syndrome 9.8
23 adenoma 9.8
24 albinism 9.8
25 cytokine deficiency 9.8
26 integumentary system disease 9.8 TP53 COL7A1
27 hutchinson-gilford progeria syndrome 9.7 TWIST2 TP53
28 fallopian tube disease 9.7 TP53 MFN2
29 uterine benign neoplasm 9.6 TP53 MFN2
30 reproductive organ benign neoplasm 9.6 TP53 MFN2
31 pelvic organ prolapse 9.6 TP53 MFN2
32 myoma 9.5 TP53 MFN2
33 melanoma, cutaneous malignant 1 9.5 TP53 STK19
34 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.4 TP53 MFN2
35 beckwith-wiedemann syndrome 9.4 TP53 MFN2 COL7A1

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 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:

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

Publications for Hyperpigmentation of the Skin

Articles related to Hyperpigmentation of the Skin:

(show top 50) (show all 191)
# Title Authors PMID Year
1
Out of the Blue: A Case of Blue Subungual Discoloration Associated with Prolonged Tetracycline Use. 61
32467786 2020
2
A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia. 61
31435881 2020
3
Palladium causes bizarre skin hyperpigmentation in long-term dihydrocodeinone 'Braun' abusers. 61
31494978 2020
4
Consumption of Polyphenols in Coffee and Green Tea Alleviates Skin Photoaging in Healthy Japanese Women. 61
32104042 2020
5
[Christmas article: Christmas-related exogenous palmar hyperpigmentation]. 61
31908261 2019
6
Oxandrolone for treatment of lipodermatosclerosis: case report. 61
31723343 2019
7
ADRENAL INSUFFICIENCY CAUSED BY PARACOCCIDIOIDOMYCOSIS: THREE CASE REPORTS AND REVIEW. 61
31967043 2019
8
'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
9
Bilateral adrenal myelolipomas presenting as acute adrenal insufficiency in an adult with congenital adrenal hyperplasia. 61
30739087 2019
10
Efficacy and safety of 1927 nm fractional Thulium fiber laser for the treatment of melasma: a retrospective study of 100 patients. 61
31690148 2019
11
Porphyria Cutanea Tarda Associated With Acute Hemorrhagic Pancreatitis. 61
31155958 2019
12
Aminoluciferin 4-hydroxyphenyl amide enables bioluminescence detection of endogenous tyrosinase. 61
30467562 2018
13
3-hydroxycoumarin loaded vesicles for recombinant human tyrosinase inhibition in topical applications. 61
30107341 2018
14
Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1. 61
30090628 2018
15
Green Bone: Minocycline-Induced Discoloration of Bone Rarely Reported in Foot and Ankle. 61
29748107 2018
16
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
17
Histopathological findings in pregnancy associated cutaneous hyperpigmentation. 61
29345316 2018
18
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
19
Laugier-Hunziker syndrome in endocrine clinical practice. 61
30087778 2018
20
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
21
Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity. 61
28926831 2018
22
Histopathologic Findings of Cutaneous Hyperpigmentation in Addison Disease and Immunostain of the Melanocytic Population. 61
28609345 2017
23
Nail Matrix Pathology in Cronkhite-Canada Syndrome: The First Case Report. 61
29058694 2017
24
CK1α ablation in keratinocytes induces p53-dependent, sunburn-protective skin hyperpigmentation. 61
28878021 2017
25
Multifocal oral melanoacanthoma associated with Addison's disease and hyperthyroidism: a case report. 61
28658350 2017
26
Amyloidosis Cutis Dyschromica, a Rare Cause of Hyperpigmentation: A New Case and Literature Review. 61
28557715 2017
27
Tranexamic acid in treatment of melasma: A comprehensive review of clinical studies. 61
28133910 2017
28
Minocycline-induced hyperpigmentation of the skin, sclera, and palpebral conjunctiva. 61
28457312 2017
29
[A woman with hyperpigmentation and dark urine]. 61
29303091 2017
30
Diffuse cutaneous melanosis: rare complication of metastatic melanoma. 61
29267449 2017
31
[Post-inflammatory hyperpigmentation]. 61
29452653 2016
32
Amitriptyline-induced cutaneous hyperpigmentation: case report and review of psychotropic drug-associated mucocutaneous hyperpigmentation. 61
27267189 2016
33
Tigecycline Induced Hyperpigmentation of the Skin. 61
27011952 2016
34
Cronkhite-Canada Syndrome: A Rare Cause of Chronic Diarrhoea in a Young Man. 61
26941798 2016
35
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
36
Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis-A Case Report. 61
26207694 2015
37
Baicalin-induced Akt activation decreases melanogenesis through downregulation of microphthalmia-associated transcription factor and tyrosinase. 61
25934572 2015
38
Benzanthrone induced immunotoxicity via oxidative stress and inflammatory mediators in Balb/c mice. 61
25454808 2015
39
Outcomes in pituitary surgery in Nelson's syndrome--therapeutic pitfalls. 61
26662649 2015
40
Hydroxychloroquine-induced hyperpigmentation of the skin. 61
25554808 2015
41
Acquired universal melanosis (carbon baby syndrome). 61
23331086 2014
42
Clinical and radiological observations in a case series of 26 patients with fibrous dysplasia. 61
24390518 2014
43
Dyskeratosis congenita in a Nigerian boy. 61
24791055 2014
44
[A neonate with dark brown coloured buttocks and upper legs]. 61
24423489 2014
45
[Terra firma-forme dermatosis]. 61
24206804 2013
46
Clinical and neurological findings of severe vitamin B12 deficiency in infancy and importance of early diagnosis and treatment. 61
23781950 2013
47
Inhibitory effect of liposome-encapsulated anthocyanin on melanogenesis in human melanocytes. 61
23570521 2013
48
Drug-induced hperpigemntation: a systematic review. 61
23650908 2013
49
X-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature. 61
23613254 2013
50
Secondary hyperpigmentation during interferon alfa treatment for chronic hepatitis C virus infection. 61
23553009 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 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 10.46 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 8.96 TP53 MFN2
2 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 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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