MCID: PHC005
MIFTS: 16

Phacomatosis Pigmentokeratotica malady

Category: Rare diseases

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:



External Ids:

UMLS65 C2931658

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 phakomatosis pigmentokeratotica and rickets. An important gene associated with Phacomatosis Pigmentokeratotica is HRAS (Harvey Rat Sarcoma Viral Oncogene Homolog). Affiliated tissues include prostate, t cells and skin.

Related Diseases for Phacomatosis Pigmentokeratotica

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1phakomatosis pigmentokeratotica11.3
2rickets10.2
3pheochromocytoma10.1
4hypophosphatemic rickets10.1
5scoliosis10.1
6right bundle branch block10.1
7basal cell carcinoma10.1
8dermoid cyst10.1
9rhabdomyosarcoma10.1
10spitz nevus10.1
11woolly hair nevus10.1

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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MalaCards organs/tissues related to Phacomatosis Pigmentokeratotica:

33
Prostate, T cells, Skin, Breast, Colon, Liver, Smooth muscle

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 31)
idTitleAuthorsYear
1
Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia. (26829038)
2016
2
Atypical Phacomatosis Pigmentokeratotica as the Expression of a Mosaic RASopathy With the BRAF-Glu586Lys Mutation. (26703821)
2016
3
Photoletter to the editor: A neurocutaneous rarity: phacomatosis pigmentokeratotica. (25024780)
2014
4
An atypical variant of phacomatosis pigmentokeratotica: verrucous epidermal nevus, speckled lentiginous nevus, and Spitz nevus associated with scoliosis. (24877171)
2014
5
Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical HRAS mutation in phacomatosis pigmentokeratotica. (24628623)
2014
6
Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. (23337891)
2013
7
Phacomatosis pigmentokeratotica is a "pseudodidymosis". (23856930)
2013
8
Phacomatosis Pigmentokeratotica: A Follow-up Report with Fatal Outcome. (24337020)
2013
9
Phacomatosis pigmentokeratotica--a patient with hypophosphatemic rickets. (23745233)
2013
10
Verrucous epidermal naevus and naevus spilus associated with lower limb asymmetry and right bundle-branch block: a case of phacomatosis pigmentokeratotica? (21790731)
2012
11
Phacomatosis pigmentokeratotica without extracutaneous abnormalities: a case study involving a preterm baby. (23166433)
2012
12
A case of phacomatosis pigmentokeratotica in Japanese monozygotic twins. (21597669)
2011
13
Phacomatosis pigmentokeratotica: a further case without extracutaneous anomalies and review of the condition. (22082467)
2011
14
Phacomatosis pigmentokeratotica associated with compound melanocytic nevus of the conjunctiva. (21781076)
2011
15
Variant of phacomatosis pigmentokeratotica. (21352309)
2011
16
Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension. (20526546)
2010
17
Phacomatosis pigmentokeratotica: a follow-up report documenting additional cutaneous and extracutaneous anomalies. (18304160)
2008
18
Phacomatosis pigmentokeratotica without extracutaneous abnormailities. (18474489)
2008
19
Phacomatosis pigmentokeratotica associated with a suprasellar dermoid cyst and leg hypertrophy. (17868392)
2007
20
Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. (16792789)
2006
21
Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall. (16843117)
2006
22
Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. (15660897)
2005
23
Phacomatosis pigmentokeratotica complicated with juvenile onset hypertension. (15370709)
2004
24
Phacomatosis pigmentokeratotica without extracutaneous abnormalities. (14657641)
2003
25
Phacomatosis pigmentokeratotica. (12519801)
2003
26
Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man. (12013201)
2002
27
Phacomatosis pigmentokeratotica: another epidermal nevus syndrome and a distinctive type of twin spotting. (10725816)
2000
28
Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome. (9580120)
1998
29
Phacomatosis pigmentokeratotica: speckled-lentiginous nevus in association with nevus sebaceus. (9873178)
1998
30
Phacomatosis pigmentokeratotica: a patient with the rare melanocytic-epidermal twin nevus syndrome. (9031800)
1997
31
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