PPKP3
MCID: PLM152
MIFTS: 32

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 56
Acrokeratoelastoidosis of Costa 12 74 52 58 43 71
Punctate Palmoplantar Keratoderma Type Iii 12 15 17
Ake 56 52 58
Punctate Palmoplantar Hyperkeratosis Type 3 12 58
Punctate Palmoplantar Keratoderma Type 3 12 58
Ppkp3 56 58
Keratoderma, Palmoplantar, Punctate Type Iii 13
Keratoderma, Palmoplantar, Punctate Type 3 56
Palmoplantar Keratoderma, Punctate Type 3 52
Collagenous Plaques of Hands and Feet 56
Collagenous Plaques of Hand and Feet 52
Acrokeratoelastoidosis; Ake 56
Acrokeratoelastoidosis 56

Characteristics:

Orphanet epidemiological data:

58
acrokeratoelastoidosis of costa
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Adult;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
palmoplantar keratoderma, punctate type iii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060362
OMIM 56 101850
MeSH 43 C535653
MESH via Orphanet 44 C535653
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C0545044
Orphanet 58 ORPHA38
MedGen 41 C0545044
UMLS 71 C0545044

Summaries for Palmoplantar Keratoderma, Punctate Type Iii

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 38 Definition A 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 later Epidemiology The prevalence is unknown. Differential diagnosis The histology combines hyperkeratosis and acanthosis. Genetic counseling Both autosomal dominant and sporadic forms have been observed. Management and treatment Treatment 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, bone and t cells, 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 : 74 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 94)
# 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 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 11.2
7 keratosis 10.7
8 palmoplantar keratosis 10.5
9 leukemia 10.4
10 knuckle pads 10.2
11 systemic scleroderma 10.2
12 erythrokeratoderma ''en cocardes'' 10.2
13 acrokeratoderma 10.2
14 contact dermatitis 10.2
15 lymphoma 10.2
16 acrokeratoderma, hereditary papulotranslucent 10.1
17 blood group, p1pk system 10.1
18 ochronosis 10.1
19 calcinosis 10.1
20 dermatitis 10.1
21 skin disease 10.1
22 localized scleroderma 10.1
23 autoimmune disease 10.1
24 renal cell carcinoma, nonpapillary 10.1
25 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
26 metal allergy 10.1
27 lymphocytic leukemia 10.1
28 basal cell carcinoma 10.1
29 allergic contact dermatitis 10.1
30 skin carcinoma 10.1
31 hermansky-pudlak syndrome 10.1
32 b-cell lymphoma 10.1
33 47,xyy 10.1
34 hypoxia 10.1
35 bladder cancer 9.9
36 keratitis, hereditary 9.9
37 dowling-degos disease 1 9.9
38 strabismus 9.9
39 diabetes mellitus, insulin-dependent 9.9
40 enterocolitis 9.9
41 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 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 helix syndrome 9.9
47 tick-borne encephalitis 9.9
48 anaplastic large cell lymphoma 9.9
49 colorectal adenocarcinoma 9.9
50 salivary gland carcinoma 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:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
2 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
3 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
4 acrokeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0200016
5 verrucae 58 31 hallmark (90%) Very frequent (99-80%) HP:0200043
6 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
7 abnormality of the nail 58 31 frequent (33%) Frequent (79-30%) HP:0001597

Symptoms via clinical synopsis from OMIM:

56
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:

40
Skin, Bone, T Cells, Bone Marrow, Spinal Cord, Salivary Gland, Breast

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? 61 56
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. 56
8651714 1996
3
A linkage study of acrokeratoelastoidosis. Possible mapping to chromosome 2. 56
6221990 1983
4
Acrokerato-elastoidosis in a Somerset mother and her two sons. 56
141935 1977
5
Acrokerato-elastoidosis (without elastorrhexis). 56
4449867 1974
6
Acrokeratoelastoidosis. 56
4694520 1973
7
Akrokerato-elastoidosis; a hitherto undescribed skin disease. 56
13116681 1953
8
Case for diagnosis. 61
25184932 2014
9
Acrokeratoelastoidosis. 61
12220276 2002
10
Acquired crateriform hyperkeratotic papules of the lower limbs: an unusual variant of acrokeratoelastoidosis of Costa. 61
11422170 2001
11
[Focal acral hyperkeratosis]. 61
10460303 1999
12
Acrokerato - elastoidosis of costa: Report of three cases. 61
20944364 1997
13
Acrokeratoelastoidosis of Costa. 61
7657445 1995
14
Marginal papular acrokeratodermas: a unified nosography for focal acral hyperkeratosis, acrokeratoelastoidosis and related disorders. 61
8305752 1994
15
[Costa acro-kerato-elastoidosis]. 61
8304711 1993
16
Acrokeratoelastoidosis of Costa in North America. A report of two cases. 61
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 COSM91331236 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 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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