MCID: PHC005
MIFTS: 14

Phacomatosis Pigmentokeratotica malady

Rare diseases category

Summaries for Phacomatosis Pigmentokeratotica

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Sources:
66Wikipedia, 34MalaCards
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Wikipedia:66 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 rickets and hypertension. An important gene associated with Phacomatosis Pigmentokeratotica is HRAS (Harvey rat sarcoma viral oncogene homolog).

Aliases & Classifications for Phacomatosis Pigmentokeratotica

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44NIH Rare Diseases, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

phacomatosis pigmentokeratotica 44 63
organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies 44


Related Diseases for Phacomatosis Pigmentokeratotica

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18GeneCards, 19GeneDecks
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Diseases related to Phacomatosis Pigmentokeratotica via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1rickets10.4
2hypertension10.4
3right bundle branch block10.3
4basal cell carcinoma10.3
5nephroblastoma10.3
6rhabdomyosarcoma10.3
7pheochromocytoma10.3
8epidermal nevus10.3
9hemihypertrophy10.3
10phakomatosis pigmentokeratotica10.3

Graphical network of diseases related to Phacomatosis Pigmentokeratotica:



Diseases related to phacomatosis pigmentokeratotica

Symptoms for Phacomatosis Pigmentokeratotica

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Drugs & Therapeutics for Phacomatosis Pigmentokeratotica

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Phacomatosis Pigmentokeratotica

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Anatomical Context for Phacomatosis Pigmentokeratotica

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Animal Models for Phacomatosis Pigmentokeratotica or affiliated genes

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Publications for Phacomatosis Pigmentokeratotica

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53PubMed
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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

Variations for Phacomatosis Pigmentokeratotica

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Expression for genes affiliated with Phacomatosis Pigmentokeratotica

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Phacomatosis Pigmentokeratotica

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Pathways for genes affiliated with Phacomatosis Pigmentokeratotica

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Compounds for genes affiliated with Phacomatosis Pigmentokeratotica

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GO Terms for genes affiliated with Phacomatosis Pigmentokeratotica

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Products for genes affiliated with Phacomatosis Pigmentokeratotica

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Sources for Phacomatosis Pigmentokeratotica

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet