MCID: PHC005
MIFTS: 12

Phacomatosis Pigmentokeratotica malady

Summaries for Phacomatosis Pigmentokeratotica

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64Wikipedia, 33MalaCards
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Wikipedia:64 Phakomatosis pigmentokeratotica is a cutaneous condition characterized by the combination of an organoid... more...

MalaCards: Phacomatosis Pigmentokeratotica, also known as organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies, is related to epidermal nevus and rickets.

Aliases & Classifications for Phacomatosis Pigmentokeratotica

Sources:
43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

phacomatosis pigmentokeratotica 43 61
organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies 43


Related Diseases for Phacomatosis Pigmentokeratotica

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Phacomatosis Pigmentokeratotica via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1epidermal nevus10.5
2rickets10.4
3basal cell carcinoma10.3
4pheochromocytoma10.3
5basal cell carcinoma, multiple10.3
6hemihypertrophy10.3
7phakomatosis pigmentokeratotica10.3

Graphical network of diseases related to Phacomatosis Pigmentokeratotica:



Diseases related to phacomatosis pigmentokeratotica

Clinical Features for Phacomatosis Pigmentokeratotica

Drugs & Therapeutics for Phacomatosis Pigmentokeratotica

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Phacomatosis Pigmentokeratotica

Drug clinical trials:

Search ClinicalTrials for Phacomatosis Pigmentokeratotica

Search NIH Clinical Center for Phacomatosis Pigmentokeratotica

Search CenterWatch for Phacomatosis Pigmentokeratotica

Genetic Tests for Phacomatosis Pigmentokeratotica

Anatomical Context for Phacomatosis Pigmentokeratotica

Animal Models for Phacomatosis Pigmentokeratotica or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Phacomatosis Pigmentokeratotica

Sources:
51PubMed
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Articles related to Phacomatosis Pigmentokeratotica:

(show all 26)
idTitleAuthorsYear
1
Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. (23337891)
2013
2
Phacomatosis pigmentokeratotica is a "pseudodidymosis". (23856930)
2013
3
Phacomatosis Pigmentokeratotica: A Follow-up Report with Fatal Outcome. (24337020)
2013
4
Phacomatosis pigmentokeratotica--a patient with hypophosphatemic rickets. (23745233)
2013
5
Verrucous epidermal naevus and naevus spilus associated with lower limb asymmetry and right bundle-branch block: a case of phacomatosis pigmentokeratotica? (21790731)
2012
6
Phacomatosis pigmentokeratotica without extracutaneous abnormalities: a case study involving a preterm baby. (23166433)
2012
7
A case of phacomatosis pigmentokeratotica in Japanese monozygotic twins. (21597669)
2011
8
Phacomatosis pigmentokeratotica: a further case without extracutaneous anomalies and review of the condition. (22082467)
2011
9
Phacomatosis pigmentokeratotica associated with compound melanocytic nevus of the conjunctiva. (21781076)
2011
10
Variant of phacomatosis pigmentokeratotica. (21352309)
2011
11
Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension. (20526546)
2010
12
Phacomatosis pigmentokeratotica: a follow-up report documenting additional cutaneous and extracutaneous anomalies. (18304160)
2008
13
Phacomatosis pigmentokeratotica without extracutaneous abnormailities. (18474489)
2008
14
Phacomatosis pigmentokeratotica associated with a suprasellar dermoid cyst and leg hypertrophy. (17868392)
2007
15
Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. (16792789)
2006
16
Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall. (16843117)
2006
17
Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. (15660897)
2005
18
Phacomatosis pigmentokeratotica complicated with juvenile onset hypertension. (15370709)
2004
19
Phacomatosis pigmentokeratotica without extracutaneous abnormalities. (14657641)
2003
20
Phacomatosis pigmentokeratotica. (12519801)
2003
21
Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man. (12013201)
2002
22
Phacomatosis pigmentokeratotica: another epidermal nevus syndrome and a distinctive type of twin spotting. (10725816)
2000
23
Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome. (9580120)
1998
24
Phacomatosis pigmentokeratotica: speckled-lentiginous nevus in association with nevus sebaceus. (9873178)
1998
25
Phacomatosis pigmentokeratotica: a patient with the rare melanocytic-epidermal twin nevus syndrome. (9031800)
1997
26
Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome. (8923953)
1996

Genetic Variations for Phacomatosis Pigmentokeratotica

Expression for genes affiliated with Phacomatosis Pigmentokeratotica

Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Phacomatosis Pigmentokeratotica.

Pathways for genes affiliated with Phacomatosis Pigmentokeratotica

Compounds for genes affiliated with Phacomatosis Pigmentokeratotica

GO Terms for genes affiliated with Phacomatosis Pigmentokeratotica

Products for genes affiliated with Phacomatosis Pigmentokeratotica

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Sources for Phacomatosis Pigmentokeratotica

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet