MCID: KRT066
MIFTS: 22

Keratosis, Focal Palmoplantar and Gingival

Categories: Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratosis, Focal Palmoplantar and Gingival

MalaCards integrated aliases for Keratosis, Focal Palmoplantar and Gingival:

Name: Keratosis, Focal Palmoplantar and Gingival 56
Focal Palmoplantar and Gingival Keratoderma 52 58
Keratosis Focal Palmoplantar Gingival 52 29
Focal Palmoplantar and Gingival Hyperkeratosis Syndrome 56
Focal Palmoplantar and Oral Mucosa Hyperkeratosis 52
Focal Palmoplantar and Gingival Hyperkeratosis 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood to puberty


HPO:

31
keratosis, focal palmoplantar and gingival:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 148730
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C1835650
Orphanet 58 ORPHA2200
MedGen 41 C1835650

Summaries for Keratosis, Focal Palmoplantar and Gingival

MalaCards based summary : Keratosis, Focal Palmoplantar and Gingival, also known as focal palmoplantar and gingival keratoderma, is related to esophageal cancer and keratosis. Affiliated tissues include skin and tongue, and related phenotypes are gingival overgrowth and palmoplantar keratoderma

Wikipedia : 74 Focal palmoplantar and gingival keratosis is a rare autosomal dominant disease whose clinical features,... more...

More information from OMIM: 148730

Related Diseases for Keratosis, Focal Palmoplantar and Gingival

Diseases related to Keratosis, Focal Palmoplantar and Gingival via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 esophageal cancer 10.2
2 keratosis 10.2
3 epidermolytic hyperkeratosis 10.2
4 evans' syndrome 10.2
5 autosomal dominant epidermolytic ichthyosis 10.2
6 palmoplantar keratosis 10.2

Graphical network of the top 20 diseases related to Keratosis, Focal Palmoplantar and Gingival:



Diseases related to Keratosis, Focal Palmoplantar and Gingival

Symptoms & Phenotypes for Keratosis, Focal Palmoplantar and Gingival

Human phenotypes related to Keratosis, Focal Palmoplantar and Gingival:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingival overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000212
2 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 subungual hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008392
4 gingival hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000222
5 focal friction-related palmoplantar hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007497
6 circumungual hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008399
7 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
8 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
9 abnormality of the nail 58 Frequent (79-30%)
10 abnormality of the fingernails 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
gingival hyperkeratosis
palate hyperkeratosis
lateral border of tongue hyperkeratosis
retromolar pad hyperkeratosis

Skin Nails Hair Skin Histology:
hyperkeratinization and acanthosis with prominent papillary projections of gingival epithelium without atypia
finely papillated gingival epithelium shows paranuclear bodies in the keratinocytes of the spinous and granular cell layers

Skin Nails Hair Nails:
subungual hyperkeratosis (toenails)
circumungual hyperkeratosis (toenails)

Skin Nails Hair Skin:
hyperkeratosis, palmoplantar, focal friction-related
hyperkeratosis, gingival

Skin Nails Hair Skin Electron Microscopy:
3 patterns of tonofilaments in keratinocyte cytoplasm - paranuclear bodies, tonofibrils, and dense aggregates

Clinical features from OMIM:

148730

Drugs & Therapeutics for Keratosis, Focal Palmoplantar and Gingival

Search Clinical Trials , NIH Clinical Center for Keratosis, Focal Palmoplantar and Gingival

Genetic Tests for Keratosis, Focal Palmoplantar and Gingival

Genetic tests related to Keratosis, Focal Palmoplantar and Gingival:

# Genetic test Affiliating Genes
1 Keratosis Focal Palmoplantar Gingival 29

Anatomical Context for Keratosis, Focal Palmoplantar and Gingival

MalaCards organs/tissues related to Keratosis, Focal Palmoplantar and Gingival:

40
Skin, Tongue

Publications for Keratosis, Focal Palmoplantar and Gingival

Articles related to Keratosis, Focal Palmoplantar and Gingival:

# Title Authors PMID Year
1
Focal palmoplantar and oral mucosa hyperkeratosis syndrome: a report concerning five members of a family. 61 56
6447853 1980
2
Focal palmoplantar and gingival hyperkeratosis syndrome: report of a family, with cytologic, ultrastructural, and histochemical findings. 56
6212891 1982
3
Focal palmoplantar and marginal gingival hyperkeratosis--a syndrome. 56
133736 1976
4
Tylosis: a case report. 56
4522525 1973
5
Hyperkeratosis of gingival and plantar surfaces. 56
5240495 1968
6
KERATOSIS PALMARIS ET PLANTARIS. 56
14131975 1964
7
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management. 61
31090139 2019
8
[Focal palmoplantar and oral mucosa hyperkeratosis syndrome]. 61
11432338 2001

Variations for Keratosis, Focal Palmoplantar and Gingival

Expression for Keratosis, Focal Palmoplantar and Gingival

Search GEO for disease gene expression data for Keratosis, Focal Palmoplantar and Gingival.

Pathways for Keratosis, Focal Palmoplantar and Gingival

GO Terms for Keratosis, Focal Palmoplantar and Gingival

Sources for Keratosis, Focal Palmoplantar and Gingival

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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