MCID: PNC113
MIFTS: 22

Punctate Palmoplantar Keratoderma

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

Aliases & Classifications for Punctate Palmoplantar Keratoderma

MalaCards integrated aliases for Punctate Palmoplantar Keratoderma:

Name: Punctate Palmoplantar Keratoderma 12 38 15
Punctate Palmoplantar Hyperkeratosis 12 6 74
Punctate Keratosis Palmoplantaris 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060361
KEGG 38 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 ichthyosis. 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:

42
Skin

Publications for Punctate Palmoplantar Keratoderma

Articles related to Punctate Palmoplantar Keratoderma:

(show all 38)
# Title Authors Year
1
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. ( 30431684 )
2019
2
Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB. ( 30451279 )
2019
3
Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype. ( 29494755 )
2018
4
Case of punctate palmoplantar keratoderma type I treated with combination of low-dose oral acitretin and topical salicylic acid and steroid. ( 29500825 )
2018
5
Alitretinoin in punctate palmoplantar keratoderma. ( 30339730 )
2018
6
Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing. ( 27510574 )
2017
7
Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma. ( 28239884 )
2017
8
Unilateral Linear Punctate Palmoplantar Keratoderma: A Case Report. ( 28512402 )
2017
9
Image Gallery: Unilaterally dominant acrokeratoelastoidosis (punctate palmoplantar keratoderma type 3). ( 29052903 )
2017
10
[Molecular genetic study of a family affected with punctate palmoplantar keratoderma]. ( 28604957 )
2017
11
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability. ( 26608363 )
2016
12
Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate. ( 24573067 )
2015
13
Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA. ( 25771163 )
2015
14
Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work. ( 25919143 )
2015
15
A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma. ( 24162853 )
2014
16
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 )
2014
17
Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma. ( 24390136 )
2014
18
New and recurrent AAGAB mutations in punctate palmoplantar keratoderma. ( 24588319 )
2014
19
Alitretinoin: a new treatment option for hereditary punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome). ( 25037811 )
2014
20
Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients. ( 23633024 )
2013
21
Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling. ( 23743648 )
2013
22
Dermacase. Can you identify this condition? Punctate palmoplantar keratoderma. ( 23851542 )
2013
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
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. ( 22972947 )
2012
26
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. ( 23000146 )
2012
27
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. ( 23064416 )
2012
28
Cole disease: guttate hypopigmentation and punctate palmoplantar keratoderma. ( 19380683 )
2009
29
Punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome). ( 17428117 )
2007
30
Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region at 15q22.2-15q22.31. ( 15888140 )
2005
31
Punctate palmoplantar keratoderma (Buschke-Fischer-Brauer disease) with psoriasis: a rare association showing excellent response to acitretin. ( 16167422 )
2005
32
Hereditary Punctate Palmoplantar Keratoderma (PPK) (Brauer-Buschke-Fischer Syndrome). ( 15187307 )
2004
33
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
34
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. ( 14684683 )
2003
35
Hereditary punctate palmoplantar keratoderma--a clinical study. ( 17642843 )
2003
36
Punctate palmoplantar keratoderma (Buschke-Fischer). ( 20944343 )
1997
37
Punctate palmoplantar keratoderma and malignancy in a four-generation family. ( 8733379 )
1996
38
Punctate palmoplantar keratoderma associated with morbus Bechterew and HLA B 27. A family study. ( 2459882 )
1988

Variations for Punctate Palmoplantar Keratoderma

ClinVar genetic disease variations for Punctate Palmoplantar Keratoderma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAR NM_001111.5(ADAR): c.841A> G (p.Ser281Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 154574277: 154574277
2 ADAR NM_001111.5(ADAR): c.841A> G (p.Ser281Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 154601801: 154601801

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

Sources for Punctate Palmoplantar Keratoderma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....