Palmoplantar Keratosis malady

NIH Rare Diseases: Palmoplantar keratoderma (PPK) is a group of conditions characterized by thickening of the palms and soles of the feet. PPK can also be an associated feature of different syndromes. In rare forms of palmoplantar keratoderma, other organs in the body may be affected in addition to the skin. PPK can either be inherited or acquired. Acquired palmoplantar keratodermas may arise as a result of infections, internal disease or cancer, inflammatory skin conditions, or medications. The hereditary palmoplantar keratodermas are caused by a gene abnormality that results in abnormal skin protein (keratin). They can be inherited in an autosomal dominant or autosomal recessive patterns.³⁰

MalaCards: Palmoplantar Keratosis, also known as palmoplantar keratoderma, is related to dilated cardiomyopathy with woolly hair and keratoderma and keratoderma. An important gene associated with Palmoplantar Keratosis is CTSC (cathepsin C), and among its related pathways are Apoptosis and Arrhythmogenic right ventricular cardiomyopathy (ARVC). The compounds tazarotene and proline have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotype integument.

Wikipedia: Meleda disease (MDM) or \"mal de Meleda\", also called Mljet disease, keratosis palmoplantaris and...⁴⁴ more...

Aliases & Descriptions:

palmoplantar keratosis 6 8 43 palmoplantar keratoderma 6 7 30 keratoderma, palmoplantar 30 17 keratosis palmaris et plantaris (disorder) 6

keratoderma, palmoplantar, diffuse 43 keratosis palmaris et plantaris 6 keratoderma palmoplantar 32

Diseases related to palmoplantar keratosis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 103)

id	Related Disease	Score	Top Affiliating Genes
1	dilated cardiomyopathy with woolly hair and keratoderma	32.3	DSP, JUP
2	keratoderma	32.0	SLURP1, TAT, DSP, DSG1, DSC2, C17orf28
3	pachyonychia congenita	31.4	KRT6B, KRT6A
4	naxos disease	31.2	DSP, DSC2, PKP2, JUP
5	vohwinkel syndrome	30.9	GJB2, LOR
6	skin disease	30.2	KRT9, KRT6B, KRT1, KRT6A, PKP1
7	epidermolytic palmoplantar keratoderma	29.9	KRT9, KRT1
8	pseudoainhum	29.5	GJB6, GJB2
9	ichthyosis	29.4	KRT2, KRT9, KRT1, NIPAL4, GJB6, GJB2
10	clouston syndrome	29.2	GJB2, GJB6
11	nonepidermolytic palmoplantar keratoderma	28.7	DSP, DSG1, C17orf28
12	focal palmoplantar keratoderma	28.7	GJB2, KRT1, KRT6C, DSG1
13	keratosis	22.6	PKP2, PKP1, CTSC, GJB6, GJB2, LOR
14	median rhomboid glossitis	13.4	KRT6B, KRT6A
15	ichthyosis bullosa of siemens	13.3	KRT2, KRT1
16	hereditary mucosal leukokeratosis	13.3	KRT6A, KRT24, KRT2
17	ectodermal dysplasia/skin fragility syndrome	13.3	PKP1, DSC2
18	glossitis	13.3	KRT6A, KRT6B
19	nail disease	13.2	KRT6B, KRT6A, RSPO4
20	ichthyosis vulgaris	13.2	NIPAL4, LOR
21	subcorneal pustular dermatosis	13.1	DSG1, DSC1
22	monilethrix	13.1	KRT2, KRT9, KRT6B, KRT6A
23	hidradenitis	13.1	DSC2, DSC1, KRT1
24	hidradenitis suppurativa	13.1	DSC2, DSC1, KRT1
25	hypohidrosis	13.1	PKP1, KRT24
26	dfnb 1 nonsyndromic hearing loss and deafness	13.1	GJB6, GJB2
27	bart-pumphrey syndrome	13.1	GJB2, GJB6
28	dfna 3 nonsyndromic hearing loss and deafness	13.0	GJB6, GJB2
29	kid syndrome	13.0	GJB6, GJB2
30	nonsyndromic hearing loss and deafness	13.0	GJB6, GJB2
31	congenital cytomegalovirus	12.9	GJB6, GJB2
32	dfnb1	12.9	GJB2, GJB6
33	erythrokeratodermia variabilis	12.9	GJB6, GJB2, LOR
34	congenital ichthyosiform erythroderma	12.9	KRT2, KRT9, KRT1, NIPAL4, LOR
35	congenital deafness with labyrinthine aplasia, microtia, and microdontia	12.8	GJB2, GJB6
36	epidermolytic hyperkeratosis	12.8	KRT2, KRT9, KRT1, KRT6A, LOR
37	bowen syndrome	12.7	JUP, KRT1
38	epidermolysis bullosa simplex	12.6	KRT2, KRT9, KRT6B, KRT1, KRT6A, LOR
39	enlarged vestibular aqueduct	12.6	GJB6, GJB2
40	mongolian spot	12.5	JUP, DSP
41	keratitis	12.5	TAT, KRT6B, GJB6, GJB2
42	auditory neuropathy	12.4	GJB6, GJB2
43	pemphigus vulgaris	12.0	DSP, DSG1, JUP
44	hailey-hailey disease	12.0	DSP, DSG1, DSC2, JUP
45	psoriasis	11.8	DSG1, DSC2, DSC1, KRT1, GJB2, LOR
46	arrhythmogenic right ventricular dysplasia	11.8	DSP, DSC2, PKP2, JUP
47	pemphigus	11.7	DSP, DSG1, DSC2, DSC1, JUP
48	arachnoiditis	11.7	DSP, DSC2, PKP2, GJB2
49	esophageal cancer	11.7	GJB2, RSPO1, RSPO4, PKP1, DSG1
50	epidermolysis bullosa	11.6	DSP, KRT2, KRT9, KRT1, KRT6A, PKP1

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to palmoplantar keratosis:

²²

MGI Mouse Phenotypes related to palmoplantar keratosis:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument phenotype	MP:0010771	7.1	JUP, DSC1, KRT2, KRT6B, KRT1, KRT6A

Articles related to palmoplantar keratosis:

id	Title	Authors	Year	Affiliating Genes
1	Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. (10581027)	Toomes C.... Thakker N.S.	1999	CTSC

Genes related to palmoplantar keratosis according to GeneCards:

(show all 26)

id	Symbol	Description	Score	GeneCards Section Context
1	CTSC	cathepsin C	11.1	Publications, Summaries
2	C17orf28	chromosome 17 open reading frame 28	11.0
3	KRT24	keratin 24	11.0
4	NIPAL4	NIPA-like domain containing 4	11.0
5	SLURP1	secreted LY6/PLAUR domain containing 1	11.0
6	KRT2	keratin 2	11.0
7	KRT9	keratin 9	11.0
8	KRT6C	keratin 6C	11.0
9	LOR	loricrin	11.0
10	KRT6B	keratin 6B	11.0
11	RSPO1	R-spondin 1	11.0
12	PRPF18	PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)	11.0	Disorders
13	RSPO4	R-spondin 4	11.0
14	KRT6A	keratin 6A	11.0
15	DSC1	desmocollin 1	11.0
16	DSC2	desmocollin 2	11.0
17	KRT1	keratin 1	11.0
18	GJB6	gap junction protein, beta 6, 30kDa	11.0
19	PKP1	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	11.0
20	TAT	tyrosine aminotransferase	11.0
21	DSG1	desmoglein 1	11.0
22	JUP	junction plakoglobin	11.0
23	LGR6	leucine-rich repeat containing G protein-coupled receptor 6	11.0
24	PKP2	plakophilin 2	11.0
25	GJB2	gap junction protein, beta 2, 26kDa	11.0
26	DSP	desmoplakin	11.0

Pathways related to palmoplantar keratosis according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Apoptosis38	9.2	PKP1, DSG1, DSP
2	Arrhythmogenic right ventricular cardiomyopathy (ARVC)20	8.3	DSP, DSC2, PKP2, JUP
3	Cytoskeleton remodeling Keratin filaments10	8.1	PKP1, DSP, KRT2, KRT6C, KRT1, KRT6A
4	Cytoskeleton remodeling_Keratin filaments41	8.0	DSP, KRT2, KRT6C, KRT1, KRT6A, PKP2

Compounds related to palmoplantar keratosis according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	tazarotene32 9 9	12.0	KRT1, KRT2
2	proline32	8.7	KRT1, KRT6A, CTSC, GJB2, LOR
3	sucrose32 9 18 9	11.2	DSP, DSG1, GJB2, JUP
4	retinoic acid32 42 18	9.0	JUP, TAT, DSP, DSG1, DSC1, KRT2
5	calcium32 9 18 9	9.4	DSP, DSG1, DSC2, DSC1, KRT6B, KRT1

Cellular components related to palmoplantar keratosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	internal side of plasma membrane	GO:009898	9.1	DSG1, LOR, JUP
2	keratin filament	GO:045095	9.1	KRT2, KRT9, KRT6C, KRT6B, KRT1, KRT6A
3	intermediate filament	GO:005882	8.5	DSP, KRT2, KRT6C, KRT24, KRT1, KRT6A
4	desmosome	GO:030057	7.6	JUP, DSP, DSG1, DSC2, DSC1, PKP2
5	plasma membrane	GO:005886	5.4	DSG1, DSC2, DSC1, C17orf28, KRT1, PKP2

Biological processes related to palmoplantar keratosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	ectoderm development	GO:007398	10.0	KRT6A, KRT6B
2	intermediate filament organization	GO:045109	9.5	KRT9, DSP
3	epidermis development	GO:008544	9.4	KRT1, KRT9, KRT2, DSP
4	cellular component disassembly involved in apoptotic process	GO:006921	9.1	PKP1, DSG1, DSP
5	cell-cell adhesion	GO:016337	8.5	DSP, DSG1, PKP2, JUP

Molecular functions related to palmoplantar keratosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of epidermis	GO:030280	9.6	LOR, PKP1
2	structural molecule activity	GO:005198	9.4	LOR, KRT24, KRT6C, DSP
3	structural constituent of cytoskeleton	GO:005200	8.5	LOR, DSP, KRT2, KRT9, KRT6B, KRT1