PPKP1B
MCID: PLM176
MIFTS: 14

Palmoplantar Keratoderma, Punctate Type Ib (PPKP1B)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Punctate Type Ib

MalaCards integrated aliases for Palmoplantar Keratoderma, Punctate Type Ib:

Name: Palmoplantar Keratoderma, Punctate Type Ib 57 70
Keratoderma, Palmoplantar, Punctate Type Ib 57 13
Ppkp1b 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in the second to fourth decades of life


HPO:

31
palmoplantar keratoderma, punctate type ib:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614936
MedGen 41 C3554145
UMLS 70 C3554145

Summaries for Palmoplantar Keratoderma, Punctate Type Ib

MalaCards based summary : Palmoplantar Keratoderma, Punctate Type Ib, also known as keratoderma, palmoplantar, punctate type ib, is related to palmoplantar keratoderma, punctate type ia. An important gene associated with Palmoplantar Keratoderma, Punctate Type Ib is PPKP1B (Keratoderma, Palmoplantar, Punctate Type IB). Related phenotype is hyperkeratosis.

More information from OMIM: 614936

Related Diseases for Palmoplantar Keratoderma, Punctate Type Ib

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 Ib via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Palmoplantar Keratoderma, Punctate Type Ib

Human phenotypes related to Palmoplantar Keratoderma, Punctate Type Ib:

31
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 31 HP:0000962

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin Histology:
hyperkeratosis, marked
keratin plugs, large and cup-like
stratum granulosum increased
stratum spinosum thickened
papillomatous hyperplasia

Skin Nails Hair Skin:
keratoderma, palmoplantar punctate

Clinical features from OMIM®:

614936 (Updated 05-Apr-2021)

Drugs & Therapeutics for Palmoplantar Keratoderma, Punctate Type Ib

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

Genetic Tests for Palmoplantar Keratoderma, Punctate Type Ib

Anatomical Context for Palmoplantar Keratoderma, Punctate Type Ib

Publications for Palmoplantar Keratoderma, Punctate Type Ib

Articles related to Palmoplantar Keratoderma, Punctate Type Ib:

# Title Authors PMID Year
1
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. 57
22972947 2012
2
Identification of a locus for punctate palmoplantar keratodermas at chromosome 8q24.13-8q24.21. 57
15140213 2004

Variations for Palmoplantar Keratoderma, Punctate Type Ib

Expression for Palmoplantar Keratoderma, Punctate Type Ib

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

Pathways for Palmoplantar Keratoderma, Punctate Type Ib

GO Terms for Palmoplantar Keratoderma, Punctate Type Ib

Sources for Palmoplantar Keratoderma, Punctate Type Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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