Details of Disease

General Information of Disease (ID: DISYQGFB)

Disease Name Palmoplantar keratosis
Synonyms keratoderma, palmoplantar; keratosis palmaris et plantaris; palmoplantar keratoderma
Definition A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.
Disease Hierarchy
DISF0NF1: Keratosis
DISYQGFB: Palmoplantar keratosis
Disease Identifiers
MONDO ID
MONDO_0006590
UMLS CUI
C0022596
MedGen ID
44017
HPO ID
HP:0000972

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KRT6A TT2FX8W Limited Genetic Variation [1]
RSPO1 TTI9HL4 Limited Genetic Variation [2]
GJB2 TTRGZX3 Strong Genetic Variation [3]
GJB6 TTAU8SJ Strong Biomarker [4]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT1 OTIOJWA4 Limited Genetic Variation [5]
DSG1 OT11HC3A moderate Genetic Variation [6]
KRT14 OTUVZ1DW moderate Genetic Variation [7]
SERPINB7 OTZ95LR2 moderate Genetic Variation [8]
KRT9 OTA10UCH Strong Genetic Variation [9]
PKP1 OT9HSQ8F Strong Altered Expression [10]
SNAP29 OTT30ZON Strong Genetic Variation [11]
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⏷ Show the Full List of 7 DOT(s)

References

1 Pachyonychia congenita responding favorably to a combination of surgical and medical therapies.Dermatol Ther. 2019 Sep;32(5):e13045. doi: 10.1111/dth.13045. Epub 2019 Aug 16.
2 Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.Hum Mutat. 2008 Feb;29(2):220-6. doi: 10.1002/humu.20665.
3 A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.J Med Genet. 2008 Mar;45(3):161-6. doi: 10.1136/jmg.2007.052332. Epub 2007 Nov 9.
4 A novel connexin 30 mutation in Clouston syndrome.J Invest Dermatol. 2002 Mar;118(3):530-2. doi: 10.1046/j.0022-202x.2001.01689.x.
5 Mosaic epidermolytic ichthyosis--case report.An Bras Dermatol. 2013 Nov-Dec;88(6 Suppl 1):116-9. doi: 10.1590/abd1806-4841.20132203.
6 Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene.J Dermatol Sci. 2007 Mar;45(3):161-6. doi: 10.1016/j.jdermsci.2006.11.013. Epub 2006 Dec 27.
7 Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.Exp Dermatol. 2004 Mar;13(3):185-91. doi: 10.1111/j.0906-6705.2004.0120.x.
8 Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation.J Am Acad Dermatol. 2020 Aug;83(2):643-645. doi: 10.1016/j.jaad.2019.11.004. Epub 2019 Nov 7.
9 Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma.Eur J Dermatol. 2008 Jul-Aug;18(4):387-90. doi: 10.1684/ejd.2008.0432. Epub 2008 Jun 23.
10 Ectodermal dysplasia-skin fragility syndrome. Dermatol Clin. 2010 Jan;28(1):125-9. doi: 10.1016/j.det.2009.10.014.
11 A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am J Hum Genet. 2005 Aug;77(2):242-51. doi: 10.1086/432556. Epub 2005 Jun 20.