MCID: PLM176
MIFTS: 15

Palmoplantar Keratoderma, Punctate Type Ib

Categories: Skin diseases, Rare diseases, Genetic 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 73
Keratoderma, Palmoplantar, Punctate Type Ib 57 13
Ppkp1b 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in the second to fourth decades of life


HPO:

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


Classifications:



External Ids:

OMIM 57 614936
MedGen 42 C3554145
UMLS 73 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.

Description 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

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
keratoderma, palmoplantar punctate

Skin Nails Hair Skin Histology:
hyperkeratosis, marked
keratin plugs, large and cup-like
stratum granulosum increased
stratum spinosum thickened
papillomatous hyperplasia


Clinical features from OMIM:

614936

Human phenotypes related to Palmoplantar Keratoderma, Punctate Type Ib:

32
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 32 HP:0000962

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

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 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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