PPKP1A
MCID: PLM159
MIFTS: 38

Palmoplantar Keratoderma, Punctate Type Ia (PPKP1A)

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

Aliases & Classifications for Palmoplantar Keratoderma, Punctate Type Ia

MalaCards integrated aliases for Palmoplantar Keratoderma, Punctate Type Ia:

Name: Palmoplantar Keratoderma, Punctate Type Ia 57
Keratosis Palmoplantaris Papulosa 57 20 72 29 6 70
Punctate Palmoplantar Keratoderma Type I 12 20 72 15
Keratodermia Palmoplantaris Papulosa, Buschke-Fischer-Brauer Type 57 20 58
Ppkp1 57 58 72
Keratoderma, Palmoplantar, Punctate Type Ia 57 13
Punctate Palmoplantar Keratoderma Type 1 20 58
Ppkp1a 57 72
Kppp1 57 72
Keratodermia Palmoplantaris Papulosa Buschke-Fischer-Brauer Type 72
Keratosis Punctate Palmoplantaris Buschke-Fisher-Brauer Type 72
Palmoplantar Keratoderma, Punctate Type I; Ppkp1 57
Keratoderma, Palmoplantar, Punctate, Type Ia 39
Palmoplantar Keratoderma, Punctate Type I 57
Punctate Palmoplantar Keratoderma Type 1a 12
Punctate Palmoplantar Keratoderma Type 1b 12
Keratoderma, Palmoplantar Punctate Type 1 20
Punctate Palmoplantar Keratoderma Type Ia 72
Type I Punctate Palmoplantar Keratoderma 20
Keratoderma, Palmoplantar, Punctate 1a 72
Brauer-Buschke-Fischer Syndrome 20
Buschke-Fischer-Brauer Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
punctate palmoplantar keratoderma type 1
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Croatia),1-9/100000 (Slovenia); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM®:

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

Miscellaneous:
inter- and intrafamilial phenotypic variability (subtle to painful and debilitating)
onset in first to second decade
keratoses on soles tend to be more severe
lesions increase in number with advancing age and coalesce to form larger lesions


HPO:

31
palmoplantar keratoderma, punctate type ia:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course late onset


Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Palmoplantar Keratoderma, Punctate Type Ia

OMIM® : 57 Punctate palmoplantar keratoderma type I, also called keratosis punctate palmoplantaris type Buschke-Fisher-Brauer, is a rare autosomal dominant hereditary skin disease characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. There have been reports of an association between PPKP and the development of early- and late-onset malignancies, including squamous cell carcinoma (summary by Giehl et al., 2012). Another form of PPKP type I has been mapped to chromosome 8q24 (PPKP1B; 614936). Other forms of punctate palmoplantar keratoderma include a porokeratotic type (PPKP2; 175860) and focal acrohyperkeratosis (PPKP3; 101850). For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (144200). (148600) (Updated 05-Apr-2021)

MalaCards based summary : Palmoplantar Keratoderma, Punctate Type Ia, also known as keratosis palmoplantaris papulosa, is related to punctate palmoplantar keratoderma and palmoplantar keratosis. An important gene associated with Palmoplantar Keratoderma, Punctate Type Ia is AAGAB (Alpha And Gamma Adaptin Binding Protein). Affiliated tissues include skin, colon and pancreas, and related phenotypes are punctate palmoplantar hyperkeratosis and palmoplantar keratoderma

Disease Ontology : 12 A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles.

GARD : 20 Punctate palmoplantar keratoderma type I is a rare condition that affects the skin. It is a sub-type of punctate palmoplantar keratoderma. Signs and symptoms typically begin in early adolescence or later and include hard, round bumps of thickened skin on the palms of the hands and soles of the feet. These bumps can cause pain in some people. The condition is usually inherited in an autosomal dominant manner and can be caused by a mutation in the AAGAB gene. Treatment options may include removal of the thickened skin by a doctor or using a cream on the affected area. Some people have used surgical approaches consisting of excision and skin grafting.

UniProtKB/Swiss-Prot : 72 Keratoderma, palmoplantar, punctate 1A: An autosomal dominant dermatological disorder characterized by multiple hyperkeratotic, centrally indented, papules that develop in early adolescence, or later, and are irregularly distributed on the palms and soles (other palmoplantar keratoses have mostly diffuse hyperkeratinization). In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. In some cases, PPKP1 is associated with the development of early- and late-onset malignancies, including squamous cell carcinoma.

Related Diseases for Palmoplantar Keratoderma, Punctate Type Ia

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

# Related Disease Score Top Affiliating Genes
1 punctate palmoplantar keratoderma 30.9 VSIG10L SNORD80 COL14A1 AAGAB
2 palmoplantar keratosis 10.2
3 hereditary palmoplantar keratoderma 10.2
4 skin disease 10.2
5 keratosis 10.2
6 erythrokeratoderma ''en cocardes'' 10.2
7 rare genetic skin disease 10.2

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



Diseases related to Palmoplantar Keratoderma, Punctate Type Ia

Symptoms & Phenotypes for Palmoplantar Keratoderma, Punctate Type Ia

Human phenotypes related to Palmoplantar Keratoderma, Punctate Type Ia:

31 58 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 punctate palmoplantar hyperkeratosis 31 obligate (100%) HP:0007530
2 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 colon cancer 58 31 frequent (33%) Frequent (79-30%) HP:0003003
4 breast carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0003002
5 renal cell carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0005584
6 neoplasm of the pancreas 58 31 frequent (33%) Frequent (79-30%) HP:0002894
7 transitional cell carcinoma of the bladder 58 31 frequent (33%) Frequent (79-30%) HP:0006740
8 hodgkin lymphoma 58 31 frequent (33%) Frequent (79-30%) HP:0012189
9 abnormality of the nail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001597
10 epidermal acanthosis 31 HP:0025092
11 hypergranulosis 31 HP:0025114
12 orthokeratosis 31 HP:0040162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
disseminated hyperkeratotic papules on palms and soles (especially over pressure points)

Skin Nails Hair Skin Electron Microscopy:
cytoskeletal disruption seen on tem of suprabasal and/or basal keratinocytes
numerous mitochondria
prominent distended golgi apparatus
abnormal abundance of membrane-bound vesicles

Skin Nails Hair Skin Histology:
hyperproliferative hyperkeratoses
acanthosis, mild
reduced granular layer
compact orthohyperkeratosis

Clinical features from OMIM®:

148600 (Updated 05-Apr-2021)

Drugs & Therapeutics for Palmoplantar Keratoderma, Punctate Type Ia

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

Genetic Tests for Palmoplantar Keratoderma, Punctate Type Ia

Genetic tests related to Palmoplantar Keratoderma, Punctate Type Ia:

# Genetic test Affiliating Genes
1 Keratosis Palmoplantaris Papulosa 29 AAGAB

Anatomical Context for Palmoplantar Keratoderma, Punctate Type Ia

MalaCards organs/tissues related to Palmoplantar Keratoderma, Punctate Type Ia:

40
Skin, Colon, Pancreas, Breast

Publications for Palmoplantar Keratoderma, Punctate Type Ia

Articles related to Palmoplantar Keratoderma, Punctate Type Ia:

(show all 11)
# Title Authors PMID Year
1
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. 6 57
23064416 2012
2
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. 57 6
23000146 2012
3
[Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family]. 57 6
20417359 2010
4
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. 57
14684683 2003
5
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. 57
8651714 1996
6
Punctate palmoplantar keratoderma and malignancy in a four-generation family. 57
8733379 1996
7
Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. 57
7544664 1995
8
Peculiar findings in a family with keratodermia palmo-plantaris papulosa Buschke-Fischer-Brauer. 57
6213548 1982
9
[STUDIES ON PAPULAR PALMO-PLANTAR KERATOSIS]. 57
14272392 1965
10
Palmoplantar keratoderma: treatment with CO2 laser case report and review of the literature. 20
21540729 2011
11
[Keratosis palmoplantaris papulosa]. 61
22527298 2012

Variations for Palmoplantar Keratoderma, Punctate Type Ia

ClinVar genetic disease variations for Palmoplantar Keratoderma, Punctate Type Ia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AAGAB NM_001271885.1(AAGAB):c.154C>T (p.Arg52Ter) SNV Pathogenic 39732 rs746488412 GRCh37: 15:67524206-67524206
GRCh38: 15:67231868-67231868
2 AAGAB NM_001271885.1(AAGAB):c.146del (p.Gly49fs) Deletion Pathogenic 39735 rs781596375 GRCh37: 15:67524214-67524214
GRCh38: 15:67231876-67231876
3 AAGAB NM_001271885.1(AAGAB):c.-127_-124del Deletion Pathogenic 39736 rs1567027610 GRCh37: 15:67529028-67529031
GRCh38: 15:67236690-67236693
4 AAGAB NM_001271885.1(AAGAB):c.543+1G>A SNV Pathogenic 39737 rs753247583 GRCh37: 15:67495885-67495885
GRCh38: 15:67203547-67203547
5 AAGAB NM_024666.5(AAGAB):c.346_347AG[1] (p.Arg116fs) Microsatellite Pathogenic 39734 rs1567027297 GRCh37: 15:67528758-67528759
GRCh38: 15:67236420-67236421
6 AAGAB NM_024666.5(AAGAB):c.370C>T (p.Arg124Ter) SNV Pathogenic 39733 rs200564757 GRCh37: 15:67528398-67528398
GRCh38: 15:67236060-67236060
7 AAGAB NM_024666.5(AAGAB):c.1A>G (p.Met1Val) SNV Pathogenic 969403 GRCh37: 15:67546969-67546969
GRCh38: 15:67254631-67254631
8 AAGAB NM_024666.3:c.871-1delG Deletion Pathogenic 1032183 GRCh37: 15:67495236-67495236
GRCh38: 15:67202898-67202898
9 AAGAB NM_024666.5(AAGAB):c.870+1G>T SNV Likely pathogenic 1028839 GRCh37: 15:67495885-67495885
GRCh38: 15:67203547-67203547
10 AAGAB NM_024666.5(AAGAB):c.394A>C (p.Ile132Leu) SNV Benign 803103 rs7173826 GRCh37: 15:67528374-67528374
GRCh38: 15:67236036-67236036

Cosmic variations for Palmoplantar Keratoderma, Punctate Type Ia:

9 (show top 50) (show all 350)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM106059757 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
2 COSM112354551 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 8
3 COSM111759858 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
4 COSM145161899 TP53 skin,hand,carcinoma,squamous cell carcinoma c.833A>G p.Q278R 17:7673578-7673578 8
5 COSM112254266 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
6 COSM145019215 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 8
7 COSM144309924 TP53 skin,hand,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 8
8 COSM144087977 TP53 skin,hand,carcinoma,squamous cell carcinoma c.379G>A p.E127K 17:7673764-7673764 8
9 COSM93190386 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
10 COSM106059965 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
11 COSM105621918 TP53 skin,hand,carcinoma,squamous cell carcinoma c.782+417G>A p.? 17:7673764-7673764 8
12 COSM143386984 TP53 skin,hand,carcinoma,squamous cell carcinoma c.193C>T p.Q65* 17:7676059-7676059 8
13 COSM122787283 TP53 skin,hand,carcinoma,squamous cell carcinoma c.449G>C p.R150P 17:7673775-7673775 8
14 COSM144213765 TP53 skin,hand,carcinoma,squamous cell carcinoma c.473A>G p.Q158R 17:7673578-7673578 8
15 COSM111765517 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
16 COSM142560894 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 8
17 COSM87899076 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
18 COSM145018355 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 8
19 COSM143465962 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>A p.A150T 17:7674966-7674966 8
20 COSM144651848 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 8
21 COSM105636071 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
22 COSM144311386 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 8
23 COSM106053786 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
24 COSM144757328 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>A p.A150T 17:7674966-7674966 8
25 COSM143945161 TP53 skin,hand,carcinoma,squamous cell carcinoma c.379G>A p.E127K 17:7673764-7673764 8
26 COSM87899887 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
27 COSM121884502 TP53 skin,hand,carcinoma,squamous cell carcinoma c.251T>A p.V84E 17:7674884-7674884 8
28 COSM144315643 TP53 skin,hand,carcinoma,squamous cell carcinoma c.143C>A p.P48Q 17:7676109-7676109 8
29 COSM142566904 TP53 skin,hand,carcinoma,squamous cell carcinoma c.530T>A p.V177E 17:7674884-7674884 8
30 COSM111807840 TP53 skin,hand,carcinoma,squamous cell carcinoma c.845G>C p.R282P 17:7673775-7673775 8
31 COSM144652672 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 8
32 COSM143000079 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 8
33 COSM105621045 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
34 COSM93198616 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
35 COSM105627660 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
36 COSM144650760 TP53 skin,hand,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 8
37 COSM111909038 TP53 skin,hand,carcinoma,squamous cell carcinoma c.950A>G p.Q317R 17:7673578-7673578 8
38 COSM144087357 TP53 skin,hand,carcinoma,squamous cell carcinoma c.83-1G>A p.? 17:7674972-7674972 8
39 COSM106067323 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
40 COSM144014790 TP53 skin,hand,carcinoma,squamous cell carcinoma c.823G>A p.E275K 17:7673764-7673764 8
41 COSM122278245 TP53 skin,hand,carcinoma,squamous cell carcinoma c.251T>A p.V84E 17:7674884-7674884 8
42 COSM122740574 TP53 skin,hand,carcinoma,squamous cell carcinoma c.251T>A p.V84E 17:7674884-7674884 8
43 COSM105627464 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
44 COSM112268626 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
45 COSM144440622 TP53 skin,hand,carcinoma,squamous cell carcinoma c.833A>G p.Q278R 17:7673578-7673578 8
46 COSM93190806 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
47 COSM106140358 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 8
48 COSM142838326 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
49 COSM122272113 TP53 skin,hand,carcinoma,squamous cell carcinoma c.277-1G>A p.? 17:7674291-7674291 8
50 COSM111758217 TP53 skin,hand,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 8

Expression for Palmoplantar Keratoderma, Punctate Type Ia

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

Pathways for Palmoplantar Keratoderma, Punctate Type Ia

GO Terms for Palmoplantar Keratoderma, Punctate Type Ia

Cellular components related to Palmoplantar Keratoderma, Punctate Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen trimer GO:0005581 8.62 COL5A2 COL14A1

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

# Name GO ID Score Top Affiliating Genes
1 collagen fibril organization GO:0030199 8.62 COL5A2 COL14A1

Molecular functions related to Palmoplantar Keratoderma, Punctate Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL5A2 COL14A1

Sources for Palmoplantar Keratoderma, Punctate Type Ia

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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