MCID: PNC060
MIFTS: 27

Punctate Porokeratosis

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Punctate Porokeratosis

MalaCards integrated aliases for Punctate Porokeratosis:

Name: Punctate Porokeratosis 53
Porokeratosis Punctata Palmaris Et Plantaris 53
Keratoderma, Palmoplantar, Punctate Type Ii 73
Porokeratosis, Punctate 73
Pppp 53

Classifications:



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Summaries for Punctate Porokeratosis

NIH Rare Diseases : 53 Punctate porokeratosis is a skin condition that appears in adulthood as many, tiny, ridgelike bumps on the palms of the hands and soles of the feet.  These bumps may slowly spread over the skin and usually do not cause symptoms, though they sometimes cause itching or discomfort while walking.  Individuals with this condition often develop other types of porokeratosis as well.  The cause of punctate porokeratosis is unknown, though genetic factors, a weakened immune system (immunodeficiency), or previous injury to the skin (for example, a burn) have been suggested as possible risk factors.   Treatment depends on the size, location, and aggressiveness of porokeratosis in each affected individual; it may include observation only, medication, or surgery.

MalaCards based summary : Punctate Porokeratosis, also known as porokeratosis punctata palmaris et plantaris, is related to porokeratosis 1, multiple types and porokeratosis. An important gene associated with Punctate Porokeratosis is FDPS (Farnesyl Diphosphate Synthase), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and Peroxisome. Affiliated tissues include skin and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Punctate Porokeratosis

Diseases related to Punctate Porokeratosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 porokeratosis 1, multiple types 30.5 MVK PMVK
2 porokeratosis 26.7 FDPS MVD MVK PMVK SLC17A9
3 porokeratosis 3, multiple types 11.1
4 porokeratosis 7, multiple types 11.1
5 porokeratosis 8, disseminated superficial actinic type 11.1
6 porokeratosis 9, multiple types 11.1
7 palmoplantar keratoderma, punctate type ii 9.9
8 liver disease 9.9
9 linear porokeratosis 7.4 FDPS MVD MVK PMVK SLC17A9

Graphical network of the top 20 diseases related to Punctate Porokeratosis:



Diseases related to Punctate Porokeratosis

Symptoms & Phenotypes for Punctate Porokeratosis

GenomeRNAi Phenotypes related to Punctate Porokeratosis according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.86 MVD
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.86 MVD
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.86 PMVK
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.86 MVD
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.86 MVD
6 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.86 MVD
7 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.86 MVD
8 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.86 PMVK
9 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.86 PMVK
10 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.86 MVD PMVK
11 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.86 MVD
12 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.86 MVD
13 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.86 PMVK
14 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.86 MVD PMVK
15 Reduced mammosphere formation GR00396-S 8.92 FDPS MVD MVK PMVK

Drugs & Therapeutics for Punctate Porokeratosis

Search Clinical Trials , NIH Clinical Center for Punctate Porokeratosis

Genetic Tests for Punctate Porokeratosis

Anatomical Context for Punctate Porokeratosis

MalaCards organs/tissues related to Punctate Porokeratosis:

41
Skin, Liver

Publications for Punctate Porokeratosis

Articles related to Punctate Porokeratosis:

(show all 11)
# Title Authors Year
1
Punctate Porokeratosis Palmaris et Plantaris. ( 26120157 )
2015
2
Unilateral punctate porokeratosis -- case report. ( 23793192 )
2013
3
Punctate porokeratosis in a renal transplant recipient. ( 12780730 )
2003
4
Simultaneous occurrence of disseminated superficial actinic porokeratosis (DSAP), linear, and punctate porokeratosis. ( 7896495 )
1995
5
Linear and punctate porokeratosis associated with end-stage liver disease. ( 1761774 )
1991
6
Porokeratosis punctata palmaris et plantaris. A new entity? ( 2525006 )
1989
7
Porokeratosis punctata palmaris et plantaris (punctate porokeratosis). Case report and literature review. ( 2933431 )
1985
8
Congenital unilateral punctate porokeratosis. ( 6703258 )
1984
9
Punctate porokeratosis. ( 6696485 )
1984
10
Punctate porokeratosis [syndrome]. ( 6826819 )
1983
11
Punctate porokeratosis. A clinical variant of porokeratosis of Mibelli. ( 753851 )
1977

Variations for Punctate Porokeratosis

Expression for Punctate Porokeratosis

Search GEO for disease gene expression data for Punctate Porokeratosis.

Pathways for Punctate Porokeratosis

GO Terms for Punctate Porokeratosis

Cellular components related to Punctate Porokeratosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 8.8 MVD MVK PMVK

Biological processes related to Punctate Porokeratosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.76 FDPS MVD MVK PMVK
2 steroid metabolic process GO:0008202 9.73 FDPS MVD MVK PMVK
3 cholesterol metabolic process GO:0008203 9.71 FDPS MVD MVK PMVK
4 steroid biosynthetic process GO:0006694 9.67 FDPS MVD MVK PMVK
5 cholesterol biosynthetic process GO:0006695 9.62 FDPS MVD MVK PMVK
6 regulation of cholesterol biosynthetic process GO:0045540 9.46 FDPS MVD MVK PMVK
7 isopentenyl diphosphate biosynthetic process, mevalonate pathway GO:0019287 9.43 MVD MVK PMVK
8 sterol biosynthetic process GO:0016126 9.26 FDPS MVD MVK PMVK
9 isoprenoid biosynthetic process GO:0008299 8.92 FDPS MVD MVK PMVK

Sources for Punctate Porokeratosis

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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