MCID: PHC005
MIFTS: 14

Phacomatosis Pigmentokeratotica

Categories: Rare diseases

Aliases & Classifications for Phacomatosis Pigmentokeratotica

MalaCards integrated aliases for Phacomatosis Pigmentokeratotica:

Name: Phacomatosis Pigmentokeratotica 54 74
Organoid Nevus with Sebaceous Differentiation, a Speckled-Lentiginous Nevus, and Other Associated Anomalies 54

Classifications:



External Ids:

UMLS 74 C2931658

Summaries for Phacomatosis Pigmentokeratotica

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 nevus, epidermal. An important gene associated with Phacomatosis Pigmentokeratotica is HRAS (HRas Proto-Oncogene, GTPase).

Related Diseases for Phacomatosis Pigmentokeratotica

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 phakomatosis pigmentokeratotica 11.9
2 nevus, epidermal 10.4
3 rickets 10.4
4 rhabdomyosarcoma 10.4
5 progressive familial heart block, type ia 10.2
6 schimmelpenning-feuerstein-mims syndrome 10.2
7 pheochromocytoma 10.2
8 hypophosphatemic rickets, x-linked recessive 10.2
9 progressive familial heart block, type ib 10.2
10 scoliosis 10.2
11 right bundle branch block 10.2
12 dermoid cyst 10.2
13 sweat gland neoplasm 10.2
14 precocious puberty 10.2
15 spitz nevus 10.2
16 woolly hair syndrome 10.2

Graphical network of the top 20 diseases related to Phacomatosis Pigmentokeratotica:



Diseases related to Phacomatosis Pigmentokeratotica

Symptoms & Phenotypes for Phacomatosis Pigmentokeratotica

Drugs & Therapeutics for Phacomatosis Pigmentokeratotica

Search Clinical Trials , NIH Clinical Center for Phacomatosis Pigmentokeratotica

Genetic Tests for Phacomatosis Pigmentokeratotica

Anatomical Context for Phacomatosis Pigmentokeratotica

Publications for Phacomatosis Pigmentokeratotica

Articles related to Phacomatosis Pigmentokeratotica:

(show all 39)
# Title Authors Year
1
Phacomatosis pigmentokeratotica: Postzygotic HRAS mutation with malignant degeneration of the sebaceous naevus. ( 30767209 )
2019
2
Phacomatosis pigmentokeratotica: a case of HRAS mosaicism causing rhabdomyosarcoma. ( 29430633 )
2018
3
Phacomatosis pigmentokeratotica and precocious puberty associated with HRAS mutation. ( 28489335 )
2017
4
A Case of Phacomatosis Pigmentokeratotica Associated With Multiple Basal Cell Carcinomas. ( 28937433 )
2017
5
HRAS mutation in phacomatosis pigmentokeratotica without extracutaneous disease. ( 28736904 )
2017
6
Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential. ( 28523882 )
2017
7
Phacomatosis pigmentokeratotica: A very rare twin spotting phenomenon. ( 28799528 )
2017
8
Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome? ( 27398198 )
2016
9
Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia. ( 26829038 )
2016
10
Atypical Phacomatosis Pigmentokeratotica as the Expression of a Mosaic RASopathy With the BRAF-Glu586Lys Mutation. ( 26703821 )
2016
11
Photoletter to the editor: A neurocutaneous rarity: phacomatosis pigmentokeratotica. ( 25024780 )
2014
12
An atypical variant of phacomatosis pigmentokeratotica: verrucous epidermal nevus, speckled lentiginous nevus, and Spitz nevus associated with scoliosis. ( 24877171 )
2014
13
Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical HRAS mutation in phacomatosis pigmentokeratotica. ( 24628623 )
2014
14
Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. ( 23337891 )
2013
15
Phacomatosis pigmentokeratotica--a patient with hypophosphatemic rickets. ( 23745233 )
2013
16
Phacomatosis pigmentokeratotica is a "pseudodidymosis". ( 23856930 )
2013
17
Phacomatosis Pigmentokeratotica: A Follow-up Report with Fatal Outcome. ( 24337020 )
2013
18
Verrucous epidermal naevus and naevus spilus associated with lower limb asymmetry and right bundle-branch block: a case of phacomatosis pigmentokeratotica? ( 21790731 )
2012
19
Phacomatosis pigmentokeratotica without extracutaneous abnormalities: a case study involving a preterm baby. ( 23166433 )
2012
20
Phacomatosis pigmentokeratotica: a further case without extracutaneous anomalies and review of the condition. ( 22082467 )
2011
21
Phacomatosis pigmentokeratotica associated with compound melanocytic nevus of the conjunctiva. ( 21781076 )
2011
22
Variant of phacomatosis pigmentokeratotica. ( 21352309 )
2011
23
A case of phacomatosis pigmentokeratotica in Japanese monozygotic twins. ( 21597669 )
2011
24
Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension. ( 20526546 )
2010
25
Phacomatosis pigmentokeratotica without extracutaneous abnormailities. ( 18474489 )
2008
26
Phacomatosis pigmentokeratotica: a follow-up report documenting additional cutaneous and extracutaneous anomalies. ( 18304160 )
2008
27
Phacomatosis pigmentokeratotica associated with a suprasellar dermoid cyst and leg hypertrophy. ( 17868392 )
2007
28
Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. ( 16792789 )
2006
29
Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall. ( 16843117 )
2006
30
Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. ( 15660897 )
2005
31
Phacomatosis pigmentokeratotica complicated with juvenile onset hypertension. ( 15370709 )
2004
32
Phacomatosis pigmentokeratotica without extracutaneous abnormalities. ( 14657641 )
2003
33
Phacomatosis pigmentokeratotica. ( 12519801 )
2003
34
Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man. ( 12013201 )
2002
35
Phacomatosis pigmentokeratotica: another epidermal nevus syndrome and a distinctive type of twin spotting. ( 10725816 )
2000
36
Phacomatosis pigmentokeratotica: speckled-lentiginous nevus in association with nevus sebaceus. ( 9873178 )
1998
37
Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome. ( 9580120 )
1998
38
Phacomatosis pigmentokeratotica: a patient with the rare melanocytic-epidermal twin nevus syndrome. ( 9031800 )
1997
39
Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome. ( 8923953 )
1996

Variations for Phacomatosis Pigmentokeratotica

Expression for Phacomatosis Pigmentokeratotica

Search GEO for disease gene expression data for Phacomatosis Pigmentokeratotica.

Pathways for Phacomatosis Pigmentokeratotica

GO Terms for Phacomatosis Pigmentokeratotica

Sources for Phacomatosis Pigmentokeratotica

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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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50 NCI
51 NCIt
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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