MCID: PHC005
MIFTS: 12

Phacomatosis Pigmentokeratotica malady

Rare diseases category

Aliases & Classifications for Phacomatosis Pigmentokeratotica

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Aliases & Descriptions for Phacomatosis Pigmentokeratotica:

Name: Phacomatosis Pigmentokeratotica 45 65
 
Organoid Nevus with Sebaceous Differentiation, a Speckled-Lentiginous Nevus, and Other Associated Anomalies 45


Classifications:



Summaries for Phacomatosis Pigmentokeratotica

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MalaCards based summary: Phacomatosis Pigmentokeratotica, also known as organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies, is related to rickets and pheochromocytoma. An important gene associated with Phacomatosis Pigmentokeratotica is HRAS (Harvey Rat Sarcoma Viral Oncogene Homolog).

Related Diseases for Phacomatosis Pigmentokeratotica

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

idRelated DiseaseScoreTop Affiliating Genes
1rickets10.5
2pheochromocytoma10.3
3hypophosphatemic rickets10.3
4right bundle branch block10.3
5basal cell carcinoma10.3
6rhabdomyosarcoma10.3
7scoliosis10.3
8spitz 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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Interventional clinical trials:

Search ClinicalTrials, 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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Search GEO for disease gene expression data for Phacomatosis Pigmentokeratotica.

Pathways for genes affiliated with Phacomatosis Pigmentokeratotica

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GO Terms for genes affiliated with Phacomatosis Pigmentokeratotica

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Sources for Phacomatosis Pigmentokeratotica

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet