PPKP3
MCID: PLM152
MIFTS: 29

Palmoplantar Keratoderma, Punctate Type Iii (PPKP3)

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

Aliases & Classifications for Palmoplantar Keratoderma, Punctate Type Iii

MalaCards integrated aliases for Palmoplantar Keratoderma, Punctate Type Iii:

Name: Palmoplantar Keratoderma, Punctate Type Iii 57
Acrokeratoelastoidosis of Costa 12 75 53 59 44 72
Punctate Palmoplantar Keratoderma Type Iii 12 15 17
Ake 57 53 59
Punctate Palmoplantar Hyperkeratosis Type 3 12 59
Punctate Palmoplantar Keratoderma Type 3 12 59
Ppkp3 57 59
Keratoderma, Palmoplantar, Punctate Type Iii 13
Keratoderma, Palmoplantar, Punctate Type 3 57
Palmoplantar Keratoderma, Punctate Type 3 53
Collagenous Plaques of Hands and Feet 57
Collagenous Plaques of Hand and Feet 53
Acrokeratoelastoidosis; Ake 57
Acrokeratoelastoidosis 57

Characteristics:

Orphanet epidemiological data:

59
acrokeratoelastoidosis of costa
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
palmoplantar keratoderma, punctate type iii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060362
OMIM 57 101850
MeSH 44 C535653
MESH via Orphanet 45 C535653
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 73 C0545044
Orphanet 59 ORPHA38
MedGen 42 C0545044
UMLS 72 C0545044

Summaries for Palmoplantar Keratoderma, Punctate Type Iii

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 38DefinitionA rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes laterEpidemiologyThe prevalence is unknown.Differential diagnosisThe histology combines hyperkeratosis and acanthosis.Genetic counselingBoth autosomal dominant and sporadic forms have been observed.Management and treatmentTreatment is not indicated in most patients.Visit the Orphanet disease page for more resources.

MalaCards based summary : Palmoplantar Keratoderma, Punctate Type Iii, also known as acrokeratoelastoidosis of costa, is related to acanthamoeba keratitis and actinic keratosis. An important gene associated with Palmoplantar Keratoderma, Punctate Type Iii is HECTD4 (HECT Domain E3 Ubiquitin Protein Ligase 4). Affiliated tissues include skin, and related phenotypes are subcutaneous nodule and hyperkeratosis

Disease Ontology : 12 A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has material basis in autosomal dominant inheritance of mutation in the AAGAB gene.

Wikipedia : 75 Acrokeratoelastoidosis of Costa is a familial condition characterized by multiple keratotic papules on... more...

More information from OMIM: 101850

Related Diseases for Palmoplantar Keratoderma, Punctate Type Iii

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 acanthamoeba keratitis 11.8
2 actinic keratosis 11.6
3 palmoplantar keratoderma, punctate type ia 11.3
4 punctate palmoplantar keratoderma 11.3
5 focal acral hyperkeratosis 11.3
6 keratosis 10.7
7 palmoplantar keratosis 10.5
8 leukemia 10.4
9 knuckle pads 10.2
10 systemic scleroderma 10.2
11 erythrokeratoderma ''en cocardes'' 10.2
12 contact dermatitis 10.2
13 lymphoma 10.2
14 acrokeratoderma, hereditary papulotranslucent 10.1
15 blood group, p1pk system 10.1
16 ochronosis 10.1
17 calcinosis 10.1
18 dermatitis 10.1
19 skin disease 10.1
20 localized scleroderma 10.1
21 acrokeratoderma 10.1
22 autoimmune disease 10.1
23 renal cell carcinoma, nonpapillary 10.1
24 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
25 metal allergy 10.1
26 lymphocytic leukemia 10.1
27 basal cell carcinoma 10.1
28 allergic contact dermatitis 10.1
29 skin carcinoma 10.1
30 hermansky-pudlak syndrome 10.1
31 b-cell lymphoma 10.1
32 47,xyy 10.1
33 hypoxia 10.1
34 bladder cancer 9.9
35 keratitis, hereditary 9.9
36 dowling-degos disease 1 9.9
37 strabismus 9.9
38 diabetes mellitus, insulin-dependent 9.9
39 enterocolitis 9.9
40 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
41 neuroblastoma 1 9.9
42 thymoma, familial 9.9
43 aplastic anemia 9.9
44 leukemia, acute lymphoblastic 9.9
45 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
46 immunodeficiency, common variable, 10 9.9
47 helix syndrome 9.9
48 tick-borne encephalitis 9.9
49 anaplastic large cell lymphoma 9.9
50 colorectal adenocarcinoma 9.9

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



Diseases related to Palmoplantar Keratoderma, Punctate Type Iii

Symptoms & Phenotypes for Palmoplantar Keratoderma, Punctate Type Iii

Human phenotypes related to Palmoplantar Keratoderma, Punctate Type Iii:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
2 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
3 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
4 acrokeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0200016
5 verrucae 59 32 hallmark (90%) Very frequent (99-80%) HP:0200043
6 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
7 abnormality of the nail 59 32 frequent (33%) Frequent (79-30%) HP:0001597

Symptoms via clinical synopsis from OMIM:

57
Skin:
hyperkeratosis
acrokeratosis
acrokeratoelastoidosis

Clinical features from OMIM:

101850

Drugs & Therapeutics for Palmoplantar Keratoderma, Punctate Type Iii

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

Cochrane evidence based reviews: acrokeratoelastoidosis of costa

Genetic Tests for Palmoplantar Keratoderma, Punctate Type Iii

Anatomical Context for Palmoplantar Keratoderma, Punctate Type Iii

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

41
Skin

Publications for Palmoplantar Keratoderma, Punctate Type Iii

Articles related to Palmoplantar Keratoderma, Punctate Type Iii:

(show all 16)
# Title Authors PMID Year
1
Acrokeratoelastoidosis of Costa: a primary disease of the elastic tissue? 38 8
9870680 1998
2
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. 8
8651714 1996
3
A linkage study of acrokeratoelastoidosis. Possible mapping to chromosome 2. 8
6221990 1983
4
Acrokerato-elastoidosis in a Somerset mother and her two sons. 8
141935 1977
5
Acrokerato-elastoidosis (without elastorrhexis). 8
4449867 1974
6
Acrokeratoelastoidosis. 8
4694520 1973
7
Akrokerato-elastoidosis; a hitherto undescribed skin disease. 8
13116681 1953
8
Case for diagnosis. 38
25184932 2014
9
Acrokeratoelastoidosis. 38
12220276 2002
10
Acquired crateriform hyperkeratotic papules of the lower limbs: an unusual variant of acrokeratoelastoidosis of Costa. 38
11422170 2001
11
[Focal acral hyperkeratosis]. 38
10460303 1999
12
Acrokerato - elastoidosis of costa: Report of three cases. 38
20944364 1997
13
Acrokeratoelastoidosis of Costa. 38
7657445 1995
14
Marginal papular acrokeratodermas: a unified nosography for focal acral hyperkeratosis, acrokeratoelastoidosis and related disorders. 38
8305752 1994
15
[Costa acro-kerato-elastoidosis]. 38
8304711 1993
16
Acrokeratoelastoidosis of Costa in North America. A report of two cases. 38
3891801 1985

Variations for Palmoplantar Keratoderma, Punctate Type Iii

Cosmic variations for Palmoplantar Keratoderma, Punctate Type Iii:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM483 HRAS skin,sole,other,wart c.35G>T p.G12V 11:534288-534288 0

Expression for Palmoplantar Keratoderma, Punctate Type Iii

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

Pathways for Palmoplantar Keratoderma, Punctate Type Iii

GO Terms for Palmoplantar Keratoderma, Punctate Type Iii

Sources for Palmoplantar Keratoderma, Punctate Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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