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 57 73
Plamoplantar Hyperkeratosis Nummularis 59
Keratosis Palmoplantaris Nummularis 59
Plamoplantar Keratoderma Nummularis 59
Hereditary Painful Callosities 59
Callosities, Painful Plantar 57
Ppk Nummularis 59

Characteristics:

Orphanet epidemiological data:

59
hereditary painful callosities
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
callosities, hereditary painful:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 114140
Orphanet 59 ORPHA79141
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 74 C1861964
MedGen 42 C1861964
UMLS 73 C1861964

Summaries for Callosities, Hereditary Painful

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

Wikipedia : 76 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 keratosis 10.5
2 epidermolytic hyperkeratosis 10.4

Symptoms & Phenotypes for Callosities, Hereditary Painful

Symptoms via clinical synopsis from OMIM:

57
Skin:
painful callosities over pressure points of hands and feet
fluid-filled bullae at edges of foot callosities


Clinical features from OMIM:

114140

Human phenotypes related to Callosities, Hereditary Painful:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0012531
2 patchy palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0005588
3 abnormality of the skin 32 HP:0000951

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:

41
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 (&amp;quot;hereditary painful callosities&amp;quot;). 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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