MCID: CLL040
MIFTS: 18

Callosities, Hereditary Painful

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Callosities, Hereditary Painful

MalaCards integrated aliases for Callosities, Hereditary Painful:

Name: Callosities, Hereditary Painful 56 71
Plamoplantar Hyperkeratosis Nummularis 58
Keratosis Palmoplantaris Nummularis 58
Plamoplantar Keratoderma Nummularis 58
Hereditary Painful Callosities 58
Callosities, Painful Plantar 56
Ppk Nummularis 58

Characteristics:

Orphanet epidemiological data:

58
hereditary painful callosities
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
callosities, hereditary painful:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 114140
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C1861964
Orphanet 58 ORPHA79141
MedGen 41 C1861964
UMLS 71 C1861964

Summaries for Callosities, Hereditary Painful

MalaCards based summary : Callosities, Hereditary Painful, also known as plamoplantar hyperkeratosis nummularis, is related to palmoplantar keratosis and epidermolytic hyperkeratosis. Affiliated tissues include skin, and related phenotypes are pain and patchy palmoplantar keratoderma

Wikipedia : 74 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

More information from OMIM: 114140

Related Diseases for Callosities, Hereditary Painful

Diseases related to Callosities, Hereditary Painful via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 5, show less)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratosis 10.1
2 epidermolytic hyperkeratosis 10.0
3 keratosis 10.0
4 erythrokeratoderma ''en cocardes'' 10.0
5 autosomal dominant epidermolytic ichthyosis 10.0

Graphical network of the top 20 diseases related to Callosities, Hereditary Painful:



Diseases related to Callosities, Hereditary Painful

Symptoms & Phenotypes for Callosities, Hereditary Painful

Human phenotypes related to Callosities, Hereditary Painful:

58 31 (showing 3, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0012531
2 patchy palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0005588
3 abnormality of the skin 31 HP:0000951

Symptoms via clinical synopsis from OMIM:

56
Skin:
painful callosities over pressure points of hands and feet
fluid-filled bullae at edges of foot callosities

Clinical features from OMIM:

114140

Drugs & Therapeutics for Callosities, Hereditary Painful

Search Clinical Trials , NIH Clinical Center for Callosities, Hereditary Painful

Genetic Tests for Callosities, Hereditary Painful

Anatomical Context for Callosities, Hereditary Painful

MalaCards organs/tissues related to Callosities, Hereditary Painful:

40
Skin

Publications for Callosities, Hereditary Painful

Articles related to Callosities, Hereditary Painful:

(showing 7, show less)
# Title Authors PMID Year
1
Autosomal dominant painful plantar callosities. 56
3812560 1987
2
Hereditary callosities with blisters. Report of a family and review. 56
6237131 1984
3
Treatment of hereditary painful callosities with tretinoin. 56
443852 1979
4
Hereditary painful callosities. 56
646376 1978
5
Epidermolytic hyperkeratosis of the nails in keratosis palmoplantaris nummularis. 61
8615066 1995
6
Keratosis palmoplantaris nummularis. 61
1831819 1991
7
Keratosis palmoplantaris nummularis ("hereditary painful callosities"). Clinical and histopathologic aspects. 61
6224824 1983

Variations for Callosities, Hereditary Painful

Expression for Callosities, Hereditary Painful

Search GEO for disease gene expression data for Callosities, Hereditary Painful.

Pathways for Callosities, Hereditary Painful

GO Terms for Callosities, Hereditary Painful

Sources for Callosities, Hereditary Painful

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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