PPKP1A
MCID: PLM159
MIFTS: 36

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 56
Keratosis Palmoplantaris Papulosa 56 52 73 29 6 71
Keratodermia Palmoplantaris Papulosa, Buschke-Fischer-Brauer Type 56 52 58
Punctate Palmoplantar Keratoderma Type I 12 52 73
Ppkp1 56 58 73
Keratoderma, Palmoplantar, Punctate Type Ia 56 13
Punctate Palmoplantar Keratoderma Type 1 52 58
Ppkp1a 56 73
Kppp1 56 73
Keratodermia Palmoplantaris Papulosa Buschke-Fischer-Brauer Type 73
Keratosis Punctate Palmoplantaris Buschke-Fisher-Brauer Type 73
Palmoplantar Keratoderma, Punctate Type I; Ppkp1 56
Keratoderma, Palmoplantar, Punctate, Type Ia 39
Palmoplantar Keratoderma, Punctate Type I 56
Punctate Palmoplantar Keratoderma Type 1a 12
Punctate Palmoplantar Keratoderma Type 1b 12
Keratoderma, Palmoplantar Punctate Type 1 52
Punctate Palmoplantar Keratoderma Type Ia 73
Type I Punctate Palmoplantar Keratoderma 52
Keratoderma, Palmoplantar, Punctate 1a 73
Brauer-Buschke-Fischer Syndrome 52
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:

56
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 : 56 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)

MalaCards based summary : Palmoplantar Keratoderma, Punctate Type Ia, also known as keratosis palmoplantaris papulosa, is related to punctate palmoplantar keratoderma and 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.

NIH Rare Diseases : 52 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 : 73 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 31.0 COL14A1 AAGAB
2 keratosis 10.4
3 erythrokeratoderma ''en cocardes'' 10.4
4 rare genetic skin disease 10.4
5 skin disease 10.3
6 palmoplantar keratosis 10.3
7 hereditary palmoplantar keratoderma 10.3

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:

56
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

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. 56 6
23064416 2012
2
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. 56 6
23000146 2012
3
[Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family]. 56 6
20417359 2010
4
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. 56
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. 56
8651714 1996
6
Punctate palmoplantar keratoderma and malignancy in a four-generation family. 56
8733379 1996
7
Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. 56
7544664 1995
8
Peculiar findings in a family with keratodermia palmo-plantaris papulosa Buschke-Fischer-Brauer. 56
6213548 1982
9
[STUDIES ON PAPULAR PALMO-PLANTAR KERATOSIS]. 56
14272392 1965
10
Palmoplantar keratoderma: treatment with CO2 laser case report and review of the literature. 52
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 GRCh37 Pos GRCh38 Pos
1 AAGAB NM_024666.5(AAGAB):c.481C>T (p.Arg161Ter)SNV Pathogenic 39732 rs746488412 15:67524206-67524206 15:67231868-67231868
2 AAGAB NM_024666.5(AAGAB):c.370C>T (p.Arg124Ter)SNV Pathogenic 39733 rs200564757 15:67528398-67528398 15:67236060-67236060
3 AAGAB NM_024666.5(AAGAB):c.346_347AG[1] (p.Arg116fs)short repeat Pathogenic 39734 rs1567027297 15:67528758-67528759 15:67236420-67236421
4 AAGAB NM_024666.5(AAGAB):c.473del (p.Gly158fs)deletion Pathogenic 39735 rs781596375 15:67524214-67524214 15:67231876-67231876
5 AAGAB NM_024666.5(AAGAB):c.201_204del (p.Phe67fs)deletion Pathogenic 39736 rs1567027610 15:67529028-67529031 15:67236690-67236693
6 AAGAB NM_024666.5(AAGAB):c.870+1G>ASNV Pathogenic 39737 rs753247583 15:67495885-67495885 15:67203547-67203547
7 AAGAB NM_024666.5(AAGAB):c.394A>C (p.Ile132Leu)SNV Benign 803103 15:67528374-67528374 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 COSM87899076 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
2 COSM87899887 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
3 COSM87906137 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
4 COSM87915681 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
5 COSM88075392 TP53 skin,hand,carcinoma,squamous cell carcinoma c.950A>G p.Q317R 17:7673578-7673578 8
6 COSM87897711 TP53 skin,hand,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 8
7 COSM87955907 TP53 skin,hand,carcinoma,squamous cell carcinoma c.845G>C p.R282P 17:7673775-7673775 8
8 COSM87906379 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
9 COSM87898836 TP53 skin,hand,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 8
10 COSM88003756 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 8
11 COSM88016543 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 8
12 COSM88117113 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 8
13 COSM97110376 NRAS skin,hand,carcinoma,squamous cell carcinoma c.395A>G p.E132G 1:114709624-114709624 8
14 COSM88392222 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.6662T>C p.V2221A 1:119916060-119916060 8
15 COSM88392238 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1340G>A p.G447D 1:119967546-119967546 8
16 COSM88408801 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1800G>A p.M600I 1:119963689-119963689 8
17 COSM88392232 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.3293G>A p.C1098Y 1:119937901-119937901 8
18 COSM88393300 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.5123C>T p.S1708F 1:119922326-119922326 8
19 COSM88390873 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.863C>T p.P288L 1:119986971-119986971 8
20 COSM88407043 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.3425C>T p.T1142I 1:119937379-119937379 8
21 COSM88409291 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.3100T>C p.C1034R 1:119940638-119940638 8
22 COSM88407049 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.872C>T p.T291I 1:119986962-119986962 8
23 COSM88398931 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.6964C>T p.P2322S 1:119915758-119915758 8
24 COSM88399145 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.2581T>G p.C861G 1:119949025-119949025 8
25 COSM88392225 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.5782-1G>A p.? 1:119918554-119918554 8
26 COSM88388711 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.337C>T p.R113* 1:120005407-120005407 8
27 COSM88408809 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1640G>A p.C547Y 1:119965494-119965494 8
28 COSM88392244 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.988T>C p.W330R 1:119969631-119969631 8
29 COSM88406295 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.4966C>T p.Q1656* 1:119922672-119922672 8
30 COSM88404616 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.7078C>A p.Q2360K 1:119915644-119915644 8
31 COSM87648187 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.5057T>C p.V1686A 9:136503292-136503292 8
32 COSM87685993 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4411G>A p.A1471T 9:136505485-136505485 8
33 COSM87695196 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1631T>C p.L544P 9:136516019-136516019 8
34 COSM87675424 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.6787C>T p.R2263W 9:136496952-136496952 8
35 COSM87695244 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.2536C>T p.Q846* 9:136511203-136511203 8
36 COSM87644755 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1393G>A p.A465T 9:136517800-136517800 8
37 COSM87692759 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.5042A>G p.D1681G 9:136503307-136503307 8
38 COSM87695180 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4022A>G p.E1341G 9:136505874-136505874 8
39 COSM87695130 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4382A>G p.K1461R 9:136505514-136505514 8
40 COSM87642057 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.403+1G>A p.? 9:136523716-136523716 8
41 COSM87676058 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1172C>T p.P391L 9:136518220-136518220 8
42 COSM87676041 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1433G>A p.C478Y 9:136517760-136517760 8
43 COSM87655013 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.6979C>T p.R2327W 9:136496760-136496760 8
44 COSM87645862 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.5624A>G p.N1875S 9:136501762-136501762 8
45 COSM87641461 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1093C>T p.R365C 9:136518597-136518597 8
46 COSM87669475 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.2297G>A p.G766D 9:136513448-136513448 8
47 COSM87645875 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1523A>G p.K508R 9:136517304-136517304 8
48 COSM87688168 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4160C>T p.A1387V 9:136505736-136505736 8
49 COSM87668736 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.6130G>A p.A2044T 9:136498949-136498949 8
50 COSM87674481 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.3172-1G>A p.? 9:136508386-136508386 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

Sources for Palmoplantar Keratoderma, Punctate Type Ia

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