Palmoplantar Carcinoma, Multiple Self-Healing disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PLM156 MIFTS: 28	Palmoplantar Carcinoma, Multiple Self-Healing Categories: Genetic diseases, Eye diseases, Rare diseases, Cancer diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Palmoplantar Carcinoma, Multiple Self-Healing

MalaCards integrated aliases for Palmoplantar Carcinoma, Multiple Self-Healing:

Name: Palmoplantar Carcinoma, Multiple Self-Healing ⁵⁷ ⁷⁵ ²⁹ ⁶

Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia ⁷⁵ ¹³ ⁷³

Mspc ⁵⁷ ⁷⁵

Corneal Intraepithelial Dyskeratosis-Palmoplantar Hyperkeratosis-Laryngeal Dyskeratosis Syndrome ⁵⁹

Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia, Formerly; Cided, Formerly ⁵⁷

Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia, Formerly ⁵⁷

Dyskeratosis , Corneal Intraepithelial and Ectodermal Dysplasia ⁴⁰

Cided, Formerly ⁵⁷

Cided ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
onset in first to third decade of life
skin lesions begin with a progressive appearance of multiple ulcerative-nodular tumors on plantar skin which grow over 3 months
keratoacanthomas occur primarily in areas devoid of hair follicles and may spontaneously regress after 6 months
some patients may develop malignant tumors
homozygous mutation has been reported in two sibs in one family

HPO:

³²

palmoplantar carcinoma, multiple self-healing:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁹

Rare eye diseases

External Ids:

OMIM ⁵⁷ 615225

Orphanet ⁵⁹ ORPHA352662

ICD10 via Orphanet ³⁴ Q82.8

MedGen ⁴² C3808876 CN169519

MeSH ⁴⁴ D003316 D004476

SNOMED-CT via HPO ⁶⁹ 263681008 95427009 254154003 more

UMLS ⁷³ C3808876

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Summaries for Palmoplantar Carcinoma, Multiple Self-Healing

UniProtKB/Swiss-Prot : ⁷⁵ Palmoplantar carcinoma, multiple self-healing: An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma.

MalaCards based summary : Palmoplantar Carcinoma, Multiple Self-Healing, also known as corneal intraepithelial dyskeratosis and ectodermal dysplasia, is related to renal cell carcinoma, nonpapillary and hepatitis c virus. An important gene associated with Palmoplantar Carcinoma, Multiple Self-Healing is NLRP1 (NLR Family Pyrin Domain Containing 1). Affiliated tissues include skin, lung and bone, and related phenotypes are long philtrum and short neck

OMIM : ⁵⁷ Multiple self-healing palmoplantar carcinoma (MSPC) is characterized by recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma (summary by Zhong et al., 2016). (615225)

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Related Diseases for Palmoplantar Carcinoma, Multiple Self-Healing

Diseases related to Palmoplantar Carcinoma, Multiple Self-Healing via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	renal cell carcinoma, nonpapillary	9.8
2	hepatitis c virus	9.8
3	hepatitis	9.8
4	limb ischemia	9.8
5	hepatitis c	9.8
6	ischemia	9.8
7	clear cell renal cell carcinoma	9.8
8	aneurysm	9.8

Graphical network of the top 20 diseases related to Palmoplantar Carcinoma, Multiple Self-Healing:

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Symptoms & Phenotypes for Palmoplantar Carcinoma, Multiple Self-Healing

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skin Nails Hair Skin:
palmoplantar keratoderma
follicular hyperkeratosis
atrophic scarring
pruritic hyperkeratotic scars (in some patients)
semi-confluent lichenoid papules on arms, legs, and lower trunk (in homozygotes)
more

Neoplasia:
squamous cell carcinoma
increased risk for malignant tumors
malignant lung tumors
malignant head and neck tumors
bone metastases from squamous cell carcinoma

Head And Neck Face:
long philtrum (in some patients)
maxillary decalcification (in some patients)

Skeletal Skull:
maxillary decalcification (in some patients)

Head And Neck Teeth:
alveolysis leading to tooth loss (in some patients)

Skeletal Hands:
finger joint hypermobility (in some patients)

Voice:
raspy voice (in some patients)

Head And Neck Eyes:
parakeratosis
corneal neovascularization
acanthosis
keratopathy
corneal dyskeratosis
more

Head And Neck Neck:
short neck (in some patients)

Skin Nails Hair Nails:
dystrophic nails (in some patients)
prominent thickening of nail beds (in some patients)

Head And Neck Ears:
cholesteatoma of middle ear (in homozygotes)

Respiratory Larynx:
epithelial dyskeratosis of vocal cords (in some patients)

Skin Nails Hair Skin Histology:
colloid bodies (apoptotic keratinocytes) within papillary dermis (in homozygotes)
marked epidermal hyperkeratosis
acanthosis papillomatosis
nearly absent granular layer
endophytic squamoproliferative tumor
more

Clinical features from OMIM:

615225

Human phenotypes related to Palmoplantar Carcinoma, Multiple Self-Healing:

³² (show all 12)

#	Description	HPO Frequency	HPO Source Accession
1	long philtrum ³²	occasional (7.5%)	HP:0000343
2	short neck ³²	occasional (7.5%)	HP:0000470
3	ectodermal dysplasia ³²		HP:0000968
4	palmoplantar keratoderma ³²		HP:0000982
5	parakeratosis ³²		HP:0001036
6	squamous cell carcinoma ³²		HP:0002860
7	finger joint hypermobility ³²	occasional (7.5%)	HP:0006094
8	follicular hyperkeratosis ³²		HP:0007502
9	nail dystrophy ³²	occasional (7.5%)	HP:0008404
10	corneal neovascularization ³²		HP:0011496
11	epidermal acanthosis ³²		HP:0025092
12	hyperkeratosis pilaris ³²	occasional (7.5%)	HP:0040180

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Drugs & Therapeutics for Palmoplantar Carcinoma, Multiple Self-Healing

Search Clinical Trials , NIH Clinical Center for Palmoplantar Carcinoma, Multiple Self-Healing

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Genetic Tests for Palmoplantar Carcinoma, Multiple Self-Healing

Genetic tests related to Palmoplantar Carcinoma, Multiple Self-Healing:

#	Genetic test	Affiliating Genes
1	Palmoplantar Carcinoma, Multiple Self-Healing ²⁹	NLRP1

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Anatomical Context for Palmoplantar Carcinoma, Multiple Self-Healing

MalaCards organs/tissues related to Palmoplantar Carcinoma, Multiple Self-Healing:

⁴¹

Skin, Lung, Bone, Eye

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Publications for Palmoplantar Carcinoma, Multiple Self-Healing

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Genes for Palmoplantar Carcinoma, Multiple Self-Healing

Genes related to Palmoplantar Carcinoma, Multiple Self-Healing (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NLRP1	NLR Family Pyrin Domain Containing 1	Protein Coding	1679.11	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23349227 27662089 25050600
2	MSPC	Palmoplantar Carcinoma, Multiple Self-Healing	Genetic Locus	9.24	GeneCards inferred via : Gene name (show sections)

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Variations for Palmoplantar Carcinoma, Multiple Self-Healing

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Carcinoma, Multiple Self-Healing:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	NLRP1	p.Met77Thr	VAR_069901	rs397514692
2	NLRP1	p.Ala54Thr	VAR_078798	rs1057519492Palmoplantar
3	NLRP1	p.Ala66Val	VAR_078799	rs1057519493Palmoplantar

ClinVar genetic disease variations for Palmoplantar Carcinoma, Multiple Self-Healing:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NLRP1	NM_001033053.2(NLRP1): c.230T> C (p.Met77Thr)	single nucleotide variant	Pathogenic	rs397514692	GRCh37	Chromosome 17, 5487048: 5487048
2	NLRP1	NM_001033053.2(NLRP1): c.230T> C (p.Met77Thr)	single nucleotide variant	Pathogenic	rs397514692	GRCh38	Chromosome 17, 5583728: 5583728
3	NLRP1	NM_001033053.2(NLRP1): c.922C> T (p.Arg308Ter)	single nucleotide variant	Uncertain significance	rs758319723	GRCh38	Chromosome 17, 5559774: 5559774
4	NLRP1	NM_001033053.2(NLRP1): c.922C> T (p.Arg308Ter)	single nucleotide variant	Uncertain significance	rs758319723	GRCh37	Chromosome 17, 5463094: 5463094
5	NLRP1	NM_001033053.2(NLRP1): c.160G> A (p.Ala54Thr)	single nucleotide variant	Pathogenic	rs1057519492	GRCh38	Chromosome 17, 5583798: 5583798
6	NLRP1	NM_001033053.2(NLRP1): c.160G> A (p.Ala54Thr)	single nucleotide variant	Pathogenic	rs1057519492	GRCh37	Chromosome 17, 5487118: 5487118
7	NLRP1	NM_033004.3(NLRP1): c.197C> T (p.Ala66Val)	single nucleotide variant	Likely pathogenic	rs1057519493	GRCh38	Chromosome 17, 5583761: 5583761
8	NLRP1	NM_033004.3(NLRP1): c.197C> T (p.Ala66Val)	single nucleotide variant	Likely pathogenic	rs1057519493	GRCh37	Chromosome 17, 5487081: 5487081
9	NLRP1	NM_001033053.2(NLRP1): c.2358-?_2528+?del	deletion	Pathogenic

Cosmic variations for Palmoplantar Carcinoma, Multiple Self-Healing:

⁹

(show top 50) (show all 360)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location	Conf
1	COSM11183	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.799C>T	p.R267W	17:7673821-7673821	8
2	COSM10705	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.586C>T	p.R196*	17:7674945-7674945	8
3	COSM43753	TP53	skin,lower leg,carcinoma,squamous cell carcinoma	c.560-1G>A	p.?	17:7674972-7674972	8
4	COSM44135	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.724T>G	p.C242G	17:7674239-7674239	8
5	COSM44218	TP53	skin,lower leg,carcinoma,squamous cell carcinoma	c.536A>C	p.H179P	17:7675076-7675076	8
6	COSM10863	TP53	skin,lower leg,carcinoma,squamous cell carcinoma	c.833C>T	p.P278L	17:7673787-7673787	8
7	COSM10889	TP53	skin,lower leg,carcinoma,squamous cell carcinoma	c.536A>G	p.H179R	17:7675076-7675076	8
8	COSM44495	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.559+2T>A	p.?	17:7675051-7675051	8
9	COSM10726	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.856G>A	p.E286K	17:7673764-7673764	8
10	COSM44523	TP53	skin,lower leg,carcinoma,squamous cell carcinoma	c.863A>G	p.N288S	17:7673757-7673757	8
11	COSM10659	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.817C>T	p.R273C	17:7673803-7673803	8
12	COSM44544	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.766A>G	p.T256A	17:7674197-7674197	8
13	COSM10662	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.743G>A	p.R248Q	17:7674220-7674220	8
14	COSM11066	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.578A>T	p.H193L	17:7674953-7674953	8
15	COSM6903923	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.356C>T	p.A119V	17:7676013-7676013	8
16	COSM10731	TP53	skin,lower leg,carcinoma,squamous cell carcinoma	c.707A>G	p.Y236C	17:7674256-7674256	8
17	COSM43952	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.710T>A	p.M237K	17:7674253-7674253	8
18	COSM44023	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.560G>A	p.G187D	17:7674971-7674971	8
19	COSM44151	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.535C>A	p.H179N	17:7675077-7675077	8
20	COSM43544	TP53	skin,lower leg,carcinoma,squamous cell carcinoma	c.260C>A	p.P87Q	17:7676109-7676109	8
21	COSM10812	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.722C>T	p.S241F	17:7674241-7674241	8
22	COSM10648	TP53	skin,lower leg,carcinoma,squamous cell carcinoma	c.524G>A	p.R175H	17:7675088-7675088	8
23	COSM44393	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.821T>C	p.V274A	17:7673799-7673799	8
24	COSM11451	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.672G>T	p.E224D	17:7674859-7674859	8
25	COSM45765	TP53	skin,lower leg,carcinoma,squamous cell carcinoma	c.987C>A	p.T329T	17:7673541-7673541	8
26	COSM10654	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.637C>T	p.R213*	17:7674894-7674894	8
27	COSM10725	TP53	skin,scalp,carcinoma,squamous cell carcinoma	c.701A>G	p.Y234C	17:7674262-7674262	8
28	COSM45114	TP53	skin,lower leg,carcinoma,squamous cell carcinoma	c.702C>A	p.Y234*	17:7674261-7674261	8
29	COSM43995	TP53	skin,lower leg,carcinoma,squamous cell carcinoma	c.740A>T	p.N247I	17:7674223-7674223	8
30	COSM6970765	PTPRD	skin,scalp,carcinoma,squamous cell carcinoma	c.2471C>T	p.P824L	9:8486346-8486346	8
31	COSM163485	PIK3CA	skin,scalp,carcinoma,squamous cell carcinoma	c.311C>T	p.P104L	3:179199136-179199136	8
32	COSM6903911	NRAS	skin,scalp,carcinoma,squamous cell carcinoma	c.332T>A	p.M111K	1:114709687-114709687	8
33	COSM573	NRAS	skin,scalp,carcinoma,squamous cell carcinoma	c.38G>A	p.G13D	1:114716123-114716123	8
34	COSM6903859	NOTCH2	skin,scalp,carcinoma,squamous cell carcinoma	c.4358G>A	p.G1453D	1:119925458-119925458	8
35	COSM6903876	NOTCH2	skin,lower leg,carcinoma,squamous cell carcinoma	c.5449G>A	p.D1817N	1:119920259-119920259	8
36	COSM6903874	NOTCH2	skin,scalp,carcinoma,squamous cell carcinoma	c.5164A>G	p.S1722G	1:119922285-119922285	8
37	COSM6903856	NOTCH2	skin,scalp,carcinoma,squamous cell carcinoma	c.4006G>A	p.G1336R	1:119925810-119925810	8
38	COSM6903890	NOTCH2	skin,scalp,carcinoma,squamous cell carcinoma	c.5930G>A	p.G1977E	1:119917762-119917762	8
39	COSM6903983	NOTCH2	skin,lower leg,carcinoma,squamous cell carcinoma	c.3052A>G	p.T1018A	1:119940686-119940686	8
40	COSM6903862	NOTCH2	skin,scalp,carcinoma,squamous cell carcinoma	c.4509C>A	p.C1503*	1:119925307-119925307	8
41	COSM6903883	NOTCH2	skin,scalp,carcinoma,squamous cell carcinoma	c.5653G>A	p.A1885T	1:119919440-119919440	8
42	COSM6903843	NOTCH2	skin,scalp,carcinoma,squamous cell carcinoma	c.2891G>A	p.C964Y	1:119941616-119941616	8
43	COSM6903868	NOTCH2	skin,scalp,carcinoma,squamous cell carcinoma	c.4860-1G>A	p.?	1:119922779-119922779	8
44	COSM6903878	NOTCH2	skin,scalp,carcinoma,squamous cell carcinoma	c.5480A>T	p.D1827V	1:119919613-119919613	8
45	COSM6903881	NOTCH2	skin,scalp,carcinoma,squamous cell carcinoma	c.5630G>A	p.G1877D	1:119919463-119919463	8
46	COSM6903864	NOTCH2	skin,lower leg,carcinoma,squamous cell carcinoma	c.4570A>G	p.S1524G	1:119923926-119923926	8
47	COSM6903831	NOTCH2	skin,scalp,carcinoma,squamous cell carcinoma	c.1738C>T	p.H580Y	1:119963751-119963751	8
48	COSM6903826	NOTCH2	skin,scalp,carcinoma,squamous cell carcinoma	c.1319T>G	p.F440C	1:119967567-119967567	8
49	COSM1667036	NOTCH2	skin,scalp,carcinoma,squamous cell carcinoma	c.337C>T	p.R113*	1:120005407-120005407	8
50	COSM6903863	NOTCH2	skin,scalp,carcinoma,squamous cell carcinoma	c.4510A>G	p.K1504E	1:119925306-119925306	8

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Expression for Palmoplantar Carcinoma, Multiple Self-Healing

Search GEO for disease gene expression data for Palmoplantar Carcinoma, Multiple Self-Healing.

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Pathways for Palmoplantar Carcinoma, Multiple Self-Healing

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GO Terms for Palmoplantar Carcinoma, Multiple Self-Healing

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Sources for Palmoplantar Carcinoma, Multiple Self-Healing

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