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 58 74
Plamoplantar Hyperkeratosis Nummularis 60
Keratosis Palmoplantaris Nummularis 60
Plamoplantar Keratoderma Nummularis 60
Hereditary Painful Callosities 60
Callosities, Painful Plantar 58
Ppk Nummularis 60

Characteristics:

Orphanet epidemiological data:

60
hereditary painful callosities
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
callosities, hereditary painful:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 114140
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C1861964
Orphanet 60 ORPHA79141
MedGen 43 C1861964
UMLS 74 C1861964

Summaries for Callosities, Hereditary Painful

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

Wikipedia : 77 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Description 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:

# Related Disease Score Top Affiliating Genes
1 epidermolytic hyperkeratosis 10.4
2 keratosis 10.0

Symptoms & Phenotypes for Callosities, Hereditary Painful

Human phenotypes related to Callosities, Hereditary Painful:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0012531
2 patchy palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0005588
3 abnormality of the skin 33 HP:0000951

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin

Publications for Callosities, Hereditary Painful

Articles related to Callosities, Hereditary Painful:

# Title Authors Year
1
Epidermolytic hyperkeratosis of the nails in keratosis palmoplantaris nummularis. ( 8615066 )
1995
2
Keratosis palmoplantaris nummularis. ( 1831819 )
1991
3
Keratosis palmoplantaris nummularis ("hereditary painful callosities"). Clinical and histopathologic aspects. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....