MCID: PNC113
MIFTS: 24

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 58 36 15
Punctate Palmoplantar Hyperkeratosis 12 58 6 71
Punctate Keratosis Palmoplantaris 12 58
Punctate Ppk 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060361
KEGG 36 H01404
SNOMED-CT 67 402773000
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C1274216
Orphanet 58 ORPHA307967
UMLS 71 C1274216 C4024851

Summaries for Punctate Palmoplantar Keratoderma

KEGG : 36 Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. PPKPs are classified into 3 types; PPKP1 (Brauer-Buschke-Fischer disease), PPKP2 (porokeratosis punctata palmaris et plantaris), and PPKP3 (Acrokeratoelastoidosis lichenoides). PPKP has previously been mapped to chromosomal region 15q22-15q24 and region 8q24.13-8q24.21, but the molecular basis has not been identified yet. Recently, it has been reported that nonsense mutations in AAGAB gene cause PPKP1.

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

Disease Ontology : 12 A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.

Related Diseases for Punctate Palmoplantar Keratoderma

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 Punctate Palmoplantar Keratoderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, punctate type ia 34.3 COL14A1 AAGAB
2 palmoplantar keratosis 31.1 SERPINB7 GJB2 AAGAB
3 keratosis 30.2 SERPINB7 GJB2 AAGAB
4 ichthyosis 29.3 GJB2 CERS3 AP1S1
5 isolated punctate palmoplantar keratoderma 12.5
6 disease with punctate palmoplantar keratoderma as a major feature 12.5
7 autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature 12.5
8 autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature 12.5
9 cole disease 12.5
10 palmoplantar keratoderma, punctate type ii 12.4
11 palmoplantar keratoderma, punctate type iii 12.3
12 focal acral hyperkeratosis 11.5
13 leukoencephalopathy palmoplantar keratoderma 11.5
14 skin disease 10.6
15 palmoplantar keratoderma, punctate type ib 10.4
16 hereditary palmoplantar keratoderma 10.4
17 colorectal cancer 10.3
18 pachyonychia congenita 1 10.3
19 psoriasis 7 10.3
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
21 autosomal recessive disease 10.3
22 sensorineural hearing loss 10.3
23 adenocarcinoma 10.3
24 pustulosis of palm and sole 10.3
25 psoriasis 10.3
26 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.0 GJB2 BRCA1
27 keratitis-ichthyosis-deafness syndrome, autosomal dominant 9.9 GJB2 CERS3
28 deafness, autosomal dominant 67 9.8 GJB2 CELA1
29 plantar wart 9.7 AP1S1 AAGAB
30 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 9.6 AP1S1 AAGAB
31 erythrokeratodermia variabilis et progressiva 1 9.3 GJB2 AP1S1

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:

40
Skin

Publications for Punctate Palmoplantar Keratoderma

Articles related to Punctate Palmoplantar Keratoderma:

(show top 50) (show all 52)
# Title Authors PMID Year
1
AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer. 61
31526046 2020
2
Punctate Palmoplantar Keratoderma: A Case Report of Type 1 (Buschke-Fischer-Brauer Disease). 61
31762743 2019
3
AAGAB Controls AP2 Adaptor Assembly in Clathrin-Mediated Endocytosis. 61
31353312 2019
4
Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB. 61
30451279 2019
5
Alitretinoin in punctate palmoplantar keratoderma. 61
30339730 2019
6
Clathrin Adaptor Complex-interacting Protein Irc6 Functions through the Conserved C-Terminal Domain. 61
30872642 2019
7
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. 61
30431684 2019
8
Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype. 61
29494755 2018
9
Case of punctate palmoplantar keratoderma type I treated with combination of low-dose oral acitretin and topical salicylic acid and steroid. 61
29500825 2018
10
Tatami Mats: A Source of Pitted Keratolysis in a Martial Arts Athlete? 61
29782305 2018
11
Image Gallery: Unilaterally dominant acrokeratoelastoidosis (punctate palmoplantar keratoderma type 3). 61
29052903 2017
12
[Molecular genetic study of a family affected with punctate palmoplantar keratoderma]. 61
28604957 2017
13
Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma. 61
28239884 2017
14
Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing. 61
27510574 2017
15
Unilateral Linear Punctate Palmoplantar Keratoderma: A Case Report. 61
28512402 2017
16
Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families. 61
27400994 2016
17
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability. 61
26608363 2016
18
Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work. 61
25919143 2015
19
Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA. 61
25771163 2015
20
Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate. 61
24573067 2015
21
Alitretinoin: a new treatment option for hereditary punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome). 61
25037811 2014
22
New and recurrent AAGAB mutations in punctate palmoplantar keratoderma. 61
24588319 2014
23
Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma. 61
24390136 2014
24
A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma. 61
24162853 2014
25
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. 61
24289292 2014
26
Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling. 61
23743648 2013
27
Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients. 61
23633024 2013
28
Dermacase. Can you identify this condition? Punctate palmoplantar keratoderma. 61
23851542 2013
29
Loss-of-function mutation in AAGAB in Chinese families with punctuate palmoplantar keratoderma. 61
23448244 2013
30
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. 61
23064416 2012
31
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. 61
23000146 2012
32
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. 61
22972947 2012
33
Type I punctate palmoplantar keratoderma (Buschke-Fisher-Brauer disease) in a family--a report of two cases. 61
22503127 2012
34
Unilateral linear punctate palmoplantar keratoderma. 61
22199066 2012
35
[Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family]. 61
20417359 2010
36
Bilateral and symmetrical palmoplantar punctate keratoses in childhood: a possible clinical clue for an early diagnosis of PTEN hamartoma-tumour syndrome. 61
19508470 2009
37
Cole disease: guttate hypopigmentation and punctate palmoplantar keratoderma. 61
19380683 2009
38
[Autosomal dominant punctate palmoplantar keratoderma (Buschke-Fischer-Brauer disease)]. 61
17375028 2007
39
Punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome). 61
17428117 2007
40
[Autosomal dominant punctate palmoplantar keratoderma]. 61
16595118 2006
41
Punctate palmoplantar keratoderma (Buschke-Fischer-Brauer disease) with psoriasis: a rare association showing excellent response to acitretin. 61
16167422 2005
42
Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region at 15q22.2-15q22.31. 61
15888140 2005
43
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. 61
15235186 2004
44
Treatment of palmoplantar keratoderma with continuous infusion 5-fluorouracil. 61
15186044 2004
45
Hereditary Punctate Palmoplantar Keratoderma (PPK) (Brauer-Buschke-Fischer Syndrome). 61
15187307 2004
46
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. 61
14684683 2003
47
Type I hereditary punctate keratoderma. 61
14594611 2003
48
Hereditary punctate palmoplantar keratoderma--a clinical study. 61
17642843 2003
49
Punctate palmoplantar keratoderma (Buschke-Fischer). 61
20944343 1997
50
Punctate palmoplantar keratoderma and malignancy in a four-generation family. 61
8733379 1996

Variations for Punctate Palmoplantar Keratoderma

ClinVar genetic disease variations for Punctate Palmoplantar Keratoderma:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAR NM_001111.5(ADAR):c.841A>G (p.Ser281Gly)SNV Uncertain significance 598995 rs1557887436 1:154574277-154574277 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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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