MCID: PHC005
MIFTS: 12

Phacomatosis Pigmentokeratotica malady

Category: Rare diseases

Aliases & Classifications for Phacomatosis Pigmentokeratotica

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Aliases & Descriptions for Phacomatosis Pigmentokeratotica:

Name: Phacomatosis Pigmentokeratotica 48 68
 
Organoid Nevus with Sebaceous Differentiation, a Speckled-Lentiginous Nevus, and Other Associated Anomalies 48

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 phakomatosis pigmentokeratotica and rickets. An important gene associated with Phacomatosis Pigmentokeratotica is HRAS (HRas Proto-Oncogene, GTPase).

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 pigmentokeratotica11.1
2rickets10.1
3pheochromocytoma10.0
4hypophosphatemic rickets10.0
5scoliosis10.0
6right bundle branch block10.0
7basal cell carcinoma10.0
8dermoid cyst10.0
9rhabdomyosarcoma10.0
10hemihypertrophy10.0
11spitz nevus10.0

Graphical network of diseases related to Phacomatosis Pigmentokeratotica:



Diseases related to phacomatosis pigmentokeratotica

Symptoms & Phenotypes 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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Publications for Phacomatosis Pigmentokeratotica

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Articles related to Phacomatosis Pigmentokeratotica:

(show all 32)
idTitleAuthorsYear
1
Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome? (27398198)
2016
2
Atypical Phacomatosis Pigmentokeratotica as the Expression of a Mosaic RASopathy With the BRAF-Glu586Lys Mutation. (26703821)
2016
3
Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia. (26829038)
2016
4
Photoletter to the editor: A neurocutaneous rarity: phacomatosis pigmentokeratotica. (25024780)
2014
5
An atypical variant of phacomatosis pigmentokeratotica: verrucous epidermal nevus, speckled lentiginous nevus, and Spitz nevus associated with scoliosis. (24877171)
2014
6
Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical HRAS mutation in phacomatosis pigmentokeratotica. (24628623)
2014
7
Phacomatosis Pigmentokeratotica: A Follow-up Report with Fatal Outcome. (24337020)
2013
8
Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. (23337891)
2013
9
Phacomatosis pigmentokeratotica is a "pseudodidymosis". (23856930)
2013
10
Phacomatosis pigmentokeratotica--a patient with hypophosphatemic rickets. (23745233)
2013
11
Verrucous epidermal naevus and naevus spilus associated with lower limb asymmetry and right bundle-branch block: a case of phacomatosis pigmentokeratotica? (21790731)
2012
12
Phacomatosis pigmentokeratotica without extracutaneous abnormalities: a case study involving a preterm baby. (23166433)
2012
13
Phacomatosis pigmentokeratotica associated with compound melanocytic nevus of the conjunctiva. (21781076)
2011
14
Phacomatosis pigmentokeratotica: a further case without extracutaneous anomalies and review of the condition. (22082467)
2011
15
A case of phacomatosis pigmentokeratotica in Japanese monozygotic twins. (21597669)
2011
16
Variant of phacomatosis pigmentokeratotica. (21352309)
2011
17
Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension. (20526546)
2010
18
Phacomatosis pigmentokeratotica without extracutaneous abnormailities. (18474489)
2008
19
Phacomatosis pigmentokeratotica: a follow-up report documenting additional cutaneous and extracutaneous anomalies. (18304160)
2008
20
Phacomatosis pigmentokeratotica associated with a suprasellar dermoid cyst and leg hypertrophy. (17868392)
2007
21
Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. (16792789)
2006
22
Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall. (16843117)
2006
23
Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. (15660897)
2005
24
Phacomatosis pigmentokeratotica complicated with juvenile onset hypertension. (15370709)
2004
25
Phacomatosis pigmentokeratotica without extracutaneous abnormalities. (14657641)
2003
26
Phacomatosis pigmentokeratotica. (12519801)
2003
27
Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man. (12013201)
2002
28
Phacomatosis pigmentokeratotica: another epidermal nevus syndrome and a distinctive type of twin spotting. (10725816)
2000
29
Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome. (9580120)
1998
30
Phacomatosis pigmentokeratotica: speckled-lentiginous nevus in association with nevus sebaceus. (9873178)
1998
31
Phacomatosis pigmentokeratotica: a patient with the rare melanocytic-epidermal twin nevus syndrome. (9031800)
1997
32
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet