MCID: PNC113
MIFTS: 23

Punctate Palmoplantar Keratoderma

Categories: Skin diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Punctate Palmoplantar Keratoderma

MalaCards integrated aliases for Punctate Palmoplantar Keratoderma:

Name: Punctate Palmoplantar Keratoderma 12 37 15
Punctate Palmoplantar Hyperkeratosis 12 73
Punctate Keratosis Palmoplantaris 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060361
SNOMED-CT 68 402773000
KEGG 37 H01404

Summaries for Punctate Palmoplantar Keratoderma

Disease Ontology : 12 A palmoplantar keratosis characterized by keratoses with a \

MalaCards based summary : Punctate Palmoplantar Keratoderma, also known as punctate palmoplantar hyperkeratosis, is related to palmoplantar keratoderma, punctate type ia and cole disease. An important gene associated with Punctate Palmoplantar Keratoderma is AAGAB (Alpha And Gamma Adaptin Binding Protein). Affiliated tissues include skin.

Related Diseases for Punctate Palmoplantar Keratoderma

Graphical network of the top 20 diseases related to Punctate Palmoplantar Keratoderma:



Diseases related to Punctate Palmoplantar Keratoderma

Symptoms & Phenotypes for Punctate Palmoplantar Keratoderma

Drugs & Therapeutics for Punctate Palmoplantar Keratoderma

Search Clinical Trials , NIH Clinical Center for Punctate Palmoplantar Keratoderma

Genetic Tests for Punctate Palmoplantar Keratoderma

Anatomical Context for Punctate Palmoplantar Keratoderma

MalaCards organs/tissues related to Punctate Palmoplantar Keratoderma:

41
Skin

Publications for Punctate Palmoplantar Keratoderma

Articles related to Punctate Palmoplantar Keratoderma:

(show all 35)
# Title Authors Year
1
Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype. ( 29494755 )
2018
2
Case of punctate palmoplantar keratoderma type I treated with combination of low-dose oral acitretin and topical salicylic acid and steroid. ( 29500825 )
2018
3
Image Gallery: Unilaterally dominant acrokeratoelastoidosis (punctate palmoplantar keratoderma type 3). ( 29052903 )
2017
4
[Molecular genetic study of a family affected with punctate palmoplantar keratoderma]. ( 28604957 )
2017
5
Unilateral Linear Punctate Palmoplantar Keratoderma: A Case Report. ( 28512402 )
2017
6
Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma. ( 28239884 )
2017
7
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability. ( 26608363 )
2016
8
Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing. ( 27510574 )
2016
9
Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work. ( 25919143 )
2015
10
Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA. ( 25771163 )
2015
11
New and recurrent AAGAB mutations in punctate palmoplantar keratoderma. ( 24588319 )
2014
12
Punctate Palmoplantar Keratoderma Type 1: A Novel AAGAB Mutation and Efficacy of Etretinate. ( 24573067 )
2014
13
Alitretinoin: a new treatment option for hereditary punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome). ( 25037811 )
2014
14
Identification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma. ( 24390136 )
2014
15
Dermacase. Can you identify this condition? Punctate palmoplantar keratoderma. ( 23851542 )
2013
16
A Novel 5-bp Deletion Mutation in AAGAB Gene in a Chinese Family with Punctate Palmoplantar Keratoderma. ( 24162853 )
2013
17
A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family. ( 24289292 )
2013
18
Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling. ( 23743648 )
2013
19
Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients. ( 23633024 )
2013
20
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. ( 23000146 )
2012
21
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. ( 23064416 )
2012
22
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. ( 22972947 )
2012
23
Unilateral linear punctate palmoplantar keratoderma. ( 22199066 )
2012
24
Type I punctate palmoplantar keratoderma (Buschke-Fisher-Brauer disease) in a family--a report of two cases. ( 22503127 )
2012
25
Cole disease: guttate hypopigmentation and punctate palmoplantar keratoderma. ( 19380683 )
2009
26
Punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome). ( 17428117 )
2007
27
Punctate palmoplantar keratoderma (Buschke-Fischer-Brauer disease) with psoriasis: a rare association showing excellent response to acitretin. ( 16167422 )
2005
28
Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region at 15q22.2-15q22.31. ( 15888140 )
2005
29
Punctate palmoplantar keratoderma with pigmentary lesions on the dorsa of feet and ankles: successful treatment with a combination of low-dose oral etretinate and topical calcipotriol. ( 15235186 )
2004
30
Hereditary Punctate Palmoplantar Keratoderma (PPK) (Brauer-Buschke-Fischer Syndrome). ( 15187307 )
2004
31
Hereditary punctate palmoplantar keratoderma--a clinical study. ( 17642843 )
2003
32
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. ( 14684683 )
2003
33
Punctate palmoplantar keratoderma (Buschke-Fischer). ( 20944343 )
1997
34
Punctate palmoplantar keratoderma and malignancy in a four-generation family. ( 8733379 )
1996
35
Punctate palmoplantar keratoderma associated with morbus Bechterew and HLA B 27. A family study. ( 2459882 )
1988

Variations for Punctate Palmoplantar Keratoderma

Expression for Punctate Palmoplantar Keratoderma

Search GEO for disease gene expression data for Punctate Palmoplantar Keratoderma.

Pathways for Punctate Palmoplantar Keratoderma

GO Terms for Punctate Palmoplantar Keratoderma

Biological processes related to Punctate Palmoplantar Keratoderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein localization to plasma membrane GO:0072659 8.62 FLNA MRAP

Sources for Punctate Palmoplantar Keratoderma

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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