PPKP3
MCID: PLM152
MIFTS: 27

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 74 20 58 44 71
Punctate Palmoplantar Keratoderma Type Iii 12 15 17
Ake 57 20 58
Punctate Palmoplantar Hyperkeratosis Type 3 12 58
Punctate Palmoplantar Keratoderma Type 3 12 58
Ppkp3 57 58
Keratoderma, Palmoplantar, Punctate Type Iii 13
Keratoderma, Palmoplantar, Punctate Type 3 57
Palmoplantar Keratoderma, Punctate Type 3 20
Collagenous Plaques of Hands and Feet 57
Collagenous Plaques of Hand and Feet 20
Acrokeratoelastoidosis; Ake 57
Acrokeratoelastoidosis 57

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 101850
MeSH 44 C535653
SNOMED-CT 67 111029001
MESH via Orphanet 45 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

GARD : 20 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 focal acral hyperkeratosis and palmoplantar keratoderma, punctate type ia. An important gene associated with Palmoplantar Keratoderma, Punctate Type Iii is ELN (Elastin). Affiliated tissues include skin, and related phenotypes are hyperkeratosis and subcutaneous nodule

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

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 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
2 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
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®:

57 (Updated 05-Mar-2021)
Skin:
hyperkeratosis
acrokeratosis
acrokeratoelastoidosis

Clinical features from OMIM®:

101850 (Updated 05-Mar-2021)

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

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 57
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. 57
8651714 1996
3
A linkage study of acrokeratoelastoidosis. Possible mapping to chromosome 2. 57
6221990 1983
4
Acrokerato-elastoidosis in a Somerset mother and her two sons. 57
141935 1977
5
Acrokerato-elastoidosis (without elastorrhexis). 57
4449867 1974
6
Acrokeratoelastoidosis. 57
4694520 1973
7
Akrokerato-elastoidosis; a hitherto undescribed skin disease. 57
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

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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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