MCID: PLM163
MIFTS: 20

Palmoplantar Keratoderma, Punctate Type Ii

Categories: Rare diseases, Skin diseases, Genetic diseases

Aliases & Classifications for Palmoplantar Keratoderma, Punctate Type Ii

MalaCards integrated aliases for Palmoplantar Keratoderma, Punctate Type Ii:

Name: Palmoplantar Keratoderma, Punctate Type Ii 57
Porokeratosis Punctata Palmaris Et Plantaris 57 76 6
Ppkp2 57 53
Pppp 57 53
Porokeratosis Punctata Palmaris Et Plantaris; Pppp 57
Punctate Palmoplantar Hyperkeratosis Type 2 53
Keratoderma, Palmoplantar, Punctate Type Ii 73
Punctate Palmoplantar Keratoderma Type Ii 12
Keratoderma Palmoplantar, Punctate Type 2 53
Punctate Palmoplantar Keratoderma Type 2 53
Porokeratosis, Palmoplantar 73
Type 2 Punctate Ppk 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
palmoplantar keratoderma, punctate type ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 175860
Disease Ontology 12 DOID:0080213
MedGen 42 C1867982
SNOMED-CT via HPO 69 263681008 80432009

Summaries for Palmoplantar Keratoderma, Punctate Type Ii

MalaCards based summary : Palmoplantar Keratoderma, Punctate Type Ii, also known as porokeratosis punctata palmaris et plantaris, is related to punctate porokeratosis and palmoplantar keratoderma, punctate type ia. An important gene associated with Palmoplantar Keratoderma, Punctate Type Ii is BRCA1 (BRCA1, DNA Repair Associated). Affiliated tissues include skin, and related phenotypes are spinous keratoses of palms and soles and porokeratosis

Wikipedia : 76 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Description from OMIM: 175860

Related Diseases for Palmoplantar Keratoderma, Punctate Type Ii

Diseases in the Punctate Palmoplantar Keratoderma family:

Palmoplantar Keratoderma, Punctate Type Iii Palmoplantar Keratoderma, Punctate Type Ia
Palmoplantar Keratoderma, Punctate Type Ii Palmoplantar Keratoderma, Punctate Type Ib

Diseases related to Palmoplantar Keratoderma, Punctate Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 punctate porokeratosis 11.6
2 palmoplantar keratoderma, punctate type ia 11.0

Symptoms & Phenotypes for Palmoplantar Keratoderma, Punctate Type Ii

Symptoms via clinical synopsis from OMIM:

57
Skin:
spinous keratoses of palms and soles


Clinical features from OMIM:

175860

Human phenotypes related to Palmoplantar Keratoderma, Punctate Type Ii:

32
# Description HPO Frequency HPO Source Accession
1 spinous keratoses of palms and soles 32 HP:0007613
2 porokeratosis 32 HP:0200044

Drugs & Therapeutics for Palmoplantar Keratoderma, Punctate Type Ii

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Punctate Type Ii

Genetic Tests for Palmoplantar Keratoderma, Punctate Type Ii

Anatomical Context for Palmoplantar Keratoderma, Punctate Type Ii

MalaCards organs/tissues related to Palmoplantar Keratoderma, Punctate Type Ii:

41
Skin

Publications for Palmoplantar Keratoderma, Punctate Type Ii

Articles related to Palmoplantar Keratoderma, Punctate Type Ii:

# Title Authors Year
1
Porokeratosis punctata palmaris et plantaris. A new entity? ( 2525006 )
1989
2
Porokeratosis punctata palmaris et plantaris (punctate porokeratosis). Case report and literature review. ( 2933431 )
1985

Variations for Palmoplantar Keratoderma, Punctate Type Ii

ClinVar genetic disease variations for Palmoplantar Keratoderma, Punctate Type Ii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BRCA1 NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs) duplication Pathogenic rs80357906 GRCh37 Chromosome 17, 41209082: 41209082
2 BRCA1 NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs) duplication Pathogenic rs80357906 GRCh38 Chromosome 17, 43057065: 43057065

Expression for Palmoplantar Keratoderma, Punctate Type Ii

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Punctate Type Ii.

Pathways for Palmoplantar Keratoderma, Punctate Type Ii

GO Terms for Palmoplantar Keratoderma, Punctate Type Ii

Sources for Palmoplantar Keratoderma, Punctate Type Ii

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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