MCID: PHK006
MIFTS: 15

Phakomatosis Pigmentokeratotica

Categories: Skin diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Phakomatosis Pigmentokeratotica

MalaCards integrated aliases for Phakomatosis Pigmentokeratotica:

Name: Phakomatosis Pigmentokeratotica 59
Phacomatosis Pigmentokeratotica 73

Characteristics:

Orphanet epidemiological data:

59
phakomatosis pigmentokeratotica
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA2874
MESH via Orphanet 45 C537893
UMLS via Orphanet 74 C2931658
ICD10 via Orphanet 34 Q85.8
UMLS 73 C2931658

Summaries for Phakomatosis Pigmentokeratotica

MalaCards based summary : Phakomatosis Pigmentokeratotica, also known as phacomatosis pigmentokeratotica, is related to rickets and hereditary hypophosphatemic rickets. An important gene associated with Phakomatosis Pigmentokeratotica is HRAS (HRas Proto-Oncogene, GTPase). Affiliated tissues include skin.

Wikipedia : 76 Phakomatosis pigmentokeratotica is a rare neurocutanous condition characterized by the combination of an... more...

Related Diseases for Phakomatosis Pigmentokeratotica

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

# Related Disease Score Top Affiliating Genes
1 rickets 10.1
2 hereditary hypophosphatemic rickets 10.1

Symptoms & Phenotypes for Phakomatosis Pigmentokeratotica

Drugs & Therapeutics for Phakomatosis Pigmentokeratotica

Search Clinical Trials , NIH Clinical Center for Phakomatosis Pigmentokeratotica

Genetic Tests for Phakomatosis Pigmentokeratotica

Anatomical Context for Phakomatosis Pigmentokeratotica

MalaCards organs/tissues related to Phakomatosis Pigmentokeratotica:

41
Skin

Publications for Phakomatosis Pigmentokeratotica

Articles related to Phakomatosis Pigmentokeratotica:

(show all 40)
# Title Authors Year
1
Phacomatosis pigmentokeratotica: a case of HRAS mosaicism causing rhabdomyosarcoma. ( 29430633 )
2018
2
Phacomatosis pigmentokeratotica and precocious puberty associated with HRAS mutation. ( 28489335 )
2017
3
A Case of Phacomatosis Pigmentokeratotica Associated With Multiple Basal Cell Carcinomas. ( 28937433 )
2017
4
HRAS mutation in phacomatosis pigmentokeratotica without extracutaneous disease. ( 28736904 )
2017
5
Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential. ( 28523882 )
2017
6
Phacomatosis pigmentokeratotica: A very rare twin spotting phenomenon. ( 28799528 )
2017
7
Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome? ( 27398198 )
2016
8
Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia. ( 26829038 )
2016
9
Atypical Phacomatosis Pigmentokeratotica as the Expression of a Mosaic RASopathy With the BRAF-Glu586Lys Mutation. ( 26703821 )
2016
10
Photoletter to the editor: A neurocutaneous rarity: phacomatosis pigmentokeratotica. ( 25024780 )
2014
11
An atypical variant of phacomatosis pigmentokeratotica: verrucous epidermal nevus, speckled lentiginous nevus, and Spitz nevus associated with scoliosis. ( 24877171 )
2014
12
Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical HRAS mutation in phacomatosis pigmentokeratotica. ( 24628623 )
2014
13
Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. ( 23337891 )
2013
14
Phacomatosis pigmentokeratotica--a patient with hypophosphatemic rickets. ( 23745233 )
2013
15
Phacomatosis pigmentokeratotica is a &amp;quot;pseudodidymosis&amp;quot;. ( 23856930 )
2013
16
Phacomatosis Pigmentokeratotica: A Follow-up Report with Fatal Outcome. ( 24337020 )
2013
17
Verrucous epidermal naevus and naevus spilus associated with lower limb asymmetry and right bundle-branch block: a case of phacomatosis pigmentokeratotica? ( 21790731 )
2012
18
Phacomatosis pigmentokeratotica without extracutaneous abnormalities: a case study involving a preterm baby. ( 23166433 )
2012
19
Phacomatosis pigmentokeratotica: a further case without extracutaneous anomalies and review of the condition. ( 22082467 )
2011
20
Phacomatosis pigmentokeratotica associated with compound melanocytic nevus of the conjunctiva. ( 21781076 )
2011
21
Variant of phacomatosis pigmentokeratotica. ( 21352309 )
2011
22
A case of phacomatosis pigmentokeratotica in Japanese monozygotic twins. ( 21597669 )
2011
23
Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension. ( 20526546 )
2010
24
Phacomatosis pigmentokeratotica without extracutaneous abnormailities. ( 18474489 )
2008
25
Phacomatosis pigmentokeratotica: a follow-up report documenting additional cutaneous and extracutaneous anomalies. ( 18304160 )
2008
26
Phacomatosis pigmentokeratotica associated with a suprasellar dermoid cyst and leg hypertrophy. ( 17868392 )
2007
27
Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. ( 16792789 )
2006
28
Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall. ( 16843117 )
2006
29
Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. ( 15660897 )
2005
30
Phacomatosis pigmentokeratotica complicated with juvenile onset hypertension. ( 15370709 )
2004
31
Phacomatosis pigmentokeratotica without extracutaneous abnormalities. ( 14657641 )
2003
32
Phakomatosis pigmentokeratotica associated with hypophosphataemic vitamin D-resistant rickets: improvement in phosphate homeostasis after partial laser ablation. ( 12786855 )
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
What syndrome is this. Phakomatosis pigmentokeratotica (Happle). ( 9720704 )
1998
39
Phacomatosis pigmentokeratotica: a patient with the rare melanocytic-epidermal twin nevus syndrome. ( 9031800 )
1997
40
Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome. ( 8923953 )
1996

Variations for Phakomatosis Pigmentokeratotica

Expression for Phakomatosis Pigmentokeratotica

Search GEO for disease gene expression data for Phakomatosis Pigmentokeratotica.

Pathways for Phakomatosis Pigmentokeratotica

GO Terms for Phakomatosis Pigmentokeratotica

Sources for Phakomatosis Pigmentokeratotica

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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