MCID: PHC005
MIFTS: 16

Phacomatosis Pigmentokeratotica malady

Rare diseases category
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Summaries for Phacomatosis Pigmentokeratotica

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Wikipedia:65 Phakomatosis pigmentokeratotica is a cutaneous condition characterized by the combination of an organoid... more...

MalaCards based summary: Phacomatosis Pigmentokeratotica, also known as organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies, is related to hypertension and rickets. An important gene associated with Phacomatosis Pigmentokeratotica is HRAS (Harvey rat sarcoma viral oncogene homolog).

Aliases & Classifications for Phacomatosis Pigmentokeratotica

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Phacomatosis Pigmentokeratotica, Aliases & Descriptions:

Name: Phacomatosis Pigmentokeratotica 42 62
 
Organoid Nevus with Sebaceous Differentiation, a Speckled-Lentiginous Nevus, and Other Associated Anomalies 42


Classifications:

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


Related Diseases for Phacomatosis Pigmentokeratotica

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension10.4
2rickets10.4
3epidermal nevus10.4
4right bundle branch block10.3
5basal cell carcinoma10.3
6nephroblastoma10.3
7rhabdomyosarcoma10.3
8pheochromocytoma10.3
9spitz nevus10.3
10hemihypertrophy10.3
11phakomatosis 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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Drug clinical trials:

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Search NIH Clinical Center for Phacomatosis Pigmentokeratotica

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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Articles related to Phacomatosis Pigmentokeratotica:

(show all 29)
idTitleAuthorsYear
1
Photoletter to the editor: A neurocutaneous rarity: phacomatosis pigmentokeratotica. (25024780)
2014
2
An atypical variant of phacomatosis pigmentokeratotica: verrucous epidermal nevus, speckled lentiginous nevus, and Spitz nevus associated with scoliosis. (24877171)
2014
3
Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical HRAS mutation in phacomatosis pigmentokeratotica. (24628623)
2014
4
Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. (23337891)
2013
5
Phacomatosis pigmentokeratotica is a "pseudodidymosis". (23856930)
2013
6
Phacomatosis Pigmentokeratotica: A Follow-up Report with Fatal Outcome. (24337020)
2013
7
Phacomatosis pigmentokeratotica--a patient with hypophosphatemic rickets. (23745233)
2013
8
Verrucous epidermal naevus and naevus spilus associated with lower limb asymmetry and right bundle-branch block: a case of phacomatosis pigmentokeratotica? (21790731)
2012
9
Phacomatosis pigmentokeratotica without extracutaneous abnormalities: a case study involving a preterm baby. (23166433)
2012
10
A case of phacomatosis pigmentokeratotica in Japanese monozygotic twins. (21597669)
2011
11
Phacomatosis pigmentokeratotica: a further case without extracutaneous anomalies and review of the condition. (22082467)
2011
12
Phacomatosis pigmentokeratotica associated with compound melanocytic nevus of the conjunctiva. (21781076)
2011
13
Variant of phacomatosis pigmentokeratotica. (21352309)
2011
14
Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension. (20526546)
2010
15
Phacomatosis pigmentokeratotica: a follow-up report documenting additional cutaneous and extracutaneous anomalies. (18304160)
2008
16
Phacomatosis pigmentokeratotica without extracutaneous abnormailities. (18474489)
2008
17
Phacomatosis pigmentokeratotica associated with a suprasellar dermoid cyst and leg hypertrophy. (17868392)
2007
18
Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. (16792789)
2006
19
Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall. (16843117)
2006
20
Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. (15660897)
2005
21
Phacomatosis pigmentokeratotica complicated with juvenile onset hypertension. (15370709)
2004
22
Phacomatosis pigmentokeratotica without extracutaneous abnormalities. (14657641)
2003
23
Phacomatosis pigmentokeratotica. (12519801)
2003
24
Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man. (12013201)
2002
25
Phacomatosis pigmentokeratotica: another epidermal nevus syndrome and a distinctive type of twin spotting. (10725816)
2000
26
Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome. (9580120)
1998
27
Phacomatosis pigmentokeratotica: speckled-lentiginous nevus in association with nevus sebaceus. (9873178)
1998
28
Phacomatosis pigmentokeratotica: a patient with the rare melanocytic-epidermal twin nevus syndrome. (9031800)
1997
29
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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet