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MSPC
MCID: PLM156
MIFTS: 37

Palmoplantar Carcinoma, Multiple Self-Healing (MSPC)

Categories: Cancer diseases, Eye diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Palmoplantar Carcinoma, Multiple Self-Healing

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

Name: Palmoplantar Carcinoma, Multiple Self-Healing 56 73 29 6
Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia 73 13 71
Mspc 56 73
Corneal Intraepithelial Dyskeratosis-Palmoplantar Hyperkeratosis-Laryngeal Dyskeratosis Syndrome 58
Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia, Formerly; Cided, Formerly 56
Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia, Formerly 56
Dyskeratosis , Corneal Intraepithelial and Ectodermal Dysplasia 39
Cided, Formerly 56
Cided 73

Characteristics:

Orphanet epidemiological data:

58
corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
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:

31
palmoplantar carcinoma, multiple self-healing:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Eye diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases


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Summaries for Palmoplantar Carcinoma, Multiple Self-Healing

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UniProtKB/Swiss-Prot : 73 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 fatty liver disease, nonalcoholic 1 and lipid metabolism disorder. An important gene associated with Palmoplantar Carcinoma, Multiple Self-Healing is NLRP1 (NLR Family Pyrin Domain Containing 1). The drugs Doxorubicin and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver, and related phenotypes are short neck and long philtrum

OMIM : 56 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

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 fatty liver disease, nonalcoholic 1 10.3
2 lipid metabolism disorder 10.2
3 aortic aneurysm, familial abdominal, 1 10.0
4 hepatocellular carcinoma 10.0
5 renal cell carcinoma, nonpapillary 10.0
6 triiodothyronine receptor auxiliary protein 10.0
7 body mass index quantitative trait locus 11 10.0
8 body mass index quantitative trait locus 9 10.0
9 body mass index quantitative trait locus 8 10.0
10 body mass index quantitative trait locus 4 10.0
11 body mass index quantitative trait locus 10 10.0
12 body mass index quantitative trait locus 7 10.0
13 hepatitis c virus 10.0
14 body mass index quantitative trait locus 12 10.0
15 body mass index quantitative trait locus 14 10.0
16 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0
17 body mass index quantitative trait locus 18 10.0
18 body mass index quantitative trait locus 19 10.0
19 body mass index quantitative trait locus 20 10.0
20 limb ischemia 10.0
21 non-alcoholic steatohepatitis 10.0
22 hepatitis c 10.0
23 hyperinsulinism 10.0
24 aortic aneurysm 10.0
25 clear cell renal cell carcinoma 10.0
26 neuroblastoma 10.0
27 fatty liver disease 10.0
28 aneurysm 10.0

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



Diseases related to Palmoplantar Carcinoma, Multiple Self-Healing
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Symptoms & Phenotypes for Palmoplantar Carcinoma, Multiple Self-Healing

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

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 short neck 31 occasional (7.5%) HP:0000470
2 long philtrum 31 occasional (7.5%) HP:0000343
3 nail dystrophy 31 occasional (7.5%) HP:0008404
4 finger joint hypermobility 31 occasional (7.5%) HP:0006094
5 hyperkeratosis pilaris 31 occasional (7.5%) HP:0040180
6 palmoplantar keratoderma 31 HP:0000982
7 corneal neovascularization 31 HP:0011496
8 follicular hyperkeratosis 31 HP:0007502
9 squamous cell carcinoma 31 HP:0002860
10 ectodermal dysplasia 31 HP:0000968
11 epidermal acanthosis 31 HP:0025092
12 parakeratosis 31 HP:0001036
13 carcinoma 31 HP:0030731
14 limbal stem cell deficiency 31 HP:0032107
15 cutaneous macular amyloidosis 31 HP:0032347

Symptoms via clinical synopsis from OMIM:

56
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:
corneal neovascularization
parakeratosis
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
Sources

Drugs & Therapeutics for Palmoplantar Carcinoma, Multiple Self-Healing

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Drugs for Palmoplantar Carcinoma, Multiple Self-Healing (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 1 23214-92-8 31703
2 Liver Extracts Phase 1
3
Liposomal doxorubicin Phase 1 31703

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I Dose Escalation Tolerability Study of ThermoDox™ (Thermally Sensitive Liposomal Doxorubicin) in Combination With Radiofrequency Ablation (RFA) of Primary and Metastatic Tumors of the Liver Completed NCT00441376 Phase 1 ThermoDox

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

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Genetic Tests for Palmoplantar Carcinoma, Multiple Self-Healing

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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

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

40
Skin, Bone, Liver, Eye, Lung, Bone Marrow, Heart
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Publications for Palmoplantar Carcinoma, Multiple Self-Healing

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Articles related to Palmoplantar Carcinoma, Multiple Self-Healing:

(show top 50) (show all 121)
# Title Authors PMID Year
1
Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. 61 56 6
27662089 2016
2
Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions. 56 6
25050600 2015
3
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. 6 56
23349227 2013
4
Snai2 Maintains Bone Marrow Niche Cells by Repressing Osteopontin Expression. 61
32413329 2020
5
Connecting secretome to hematopoietic stem cell phenotype shifts in an engineered bone marrow niche. 61
32556172 2020
6
Data fusion strategies to combine sensor and multivariate model outputs for multivariate statistical process control. 61
31960081 2020
7
Process Monitoring of Moisture Content and Mass Transfer Rate in a Fluidised Bed with a Low Cost Inline MEMS NIR Sensor. 61
32318827 2020
8
Mirror symmetry origin of Dirac cone formation in rectangular two-dimensional materials. 61
32159548 2020
9
Stereoselective pharmacokinetic and pharmacodynamic analysis of a CNS-active sulphamoylphenyl carbamate derivative. 61
31124389 2019
10
Interprofessional Master of Science in Palliative Care: On Becoming a Palliative Care Community Specialist. 61
31886727 2019
11
Parathyroid Hormone Shifts Cell Fate of a Leptin Receptor-Marked Stromal Population from Adipogenic to Osteoblastic Lineage. 61
31173642 2019
12
Control and Monitoring of Milk Renneting Using FT-NIR Spectroscopy as a Process Analytical Technology Tool. 61
31547293 2019
13
Modulation of MS-like disease by a multi epitope protein is mediated by induction of CD11c+CD11b+Gr1+ myeloid-derived dendritic cells. 61
31108399 2019
14
Profile of Phenolic Compounds Released from Rice Bran by Rhizopus oryzae and Trichoderma reesei: Their Relation with Hydrolases Activity. 61
31141617 2019
15
Expectation and attention increase the integration of top-down and bottom-up signals in perception through different pathways. 61
31039146 2019
16
Drug release kinetics of temperature sensitive liposomes measured at high-temporal resolution with a millifluidic device. 61
29284329 2018
17
Ischemic Stroke Detection by Analyzing Heart Rate Variability in Rat Middle Cerebral Artery Occlusion Model. 61
29877839 2018
18
Extracellular release of virulence factor major surface protease via exosomes in Leishmania infantum promastigotes. 61
29921321 2018
19
Imbalanced Osteogenesis and Adipogenesis in Mice Deficient in the Chemokine Cxcl12/Sdf1 in the Bone Mesenchymal Stem/Progenitor Cells. 61
29120093 2018
20
Real-time monitoring of a coffee roasting process with near infrared spectroscopy using multivariate statistical analysis: A feasibility study. 61
29310234 2018
21
Chondrosarcoma: A Rare Misfortune in Aging Human Cartilage? The Role of Stem and Progenitor Cells in Proliferation, Malignant Degeneration and Therapeutic Resistance. 61
29361725 2018
22
Magnetic sulfur-doped porous carbon for preconcentration of trace mercury in environmental water prior to ICP-MS detection. 61
29116263 2017
23
Multivariate statistical process control in product quality review assessment - A case study. 61
28797469 2017
24
Programmed cell senescence in skeleton during late puberty. 61
29101351 2017
25
[Monitoring method of extraction process for Schisandrae Chinensis Fructus based on near infrared spectroscopy and multivariate statistical process control]. 61
29243426 2017
26
Process modeling and control applied to real-time monitoring of distillation processes by near-infrared spectroscopy. 61
28864193 2017
27
Multivariate statistical process control of a continuous pharmaceutical twin-screw granulation and fluid bed drying process. 61
28583334 2017
28
A new infarction detection method based on heart rate variability in rat middle cerebral artery occlusion model. 61
29060544 2017
29
Osteogenic Factor Runx2 Marks a Subset of Leptin Receptor-Positive Cells that Sit Atop the Bone Marrow Stromal Cell Hierarchy. 61
28694469 2017
30
Identification and characterization of adult mouse meniscus stem/progenitor cells. 61
28005443 2017
31
Boosting the Energy Density of Carbon-Based Aqueous Supercapacitors by Optimizing the Surface Charge. 61
28345296 2017
32
Photoneutron depth dose equivalent distributions in high-energy X-ray medical accelerators by a novel position-sensitive dosimeter. 61
28410689 2017
33
Therapeutic Efficacy of Cisplatin Thermosensitive Liposomes upon Mild Hyperthermia in C26 Tumor Bearing BALB/c Mice. 61
28135098 2017
34
The interprocess NIR sampling as an alternative approach to multivariate statistical process control for identifying sources of product-quality variability. 61
27781496 2017
35
Multivariate statistical process control (MSPC) using Raman spectroscopy for in-line culture cell monitoring considering time-varying batches synchronized with correlation optimized warping (COW). 61
28010847 2017
36
Growth performance of calves fed microbially enhanced soy protein in pelleted starters. 61
27837984 2017
37
[Near infrared spectroscopy based process trajectory technology and its application in monitoring and controlling of traditional Chinese medicine manufacturing process]. 61
28925140 2016
38
[Monitoring method for macroporous resin column chromatography process of salvianolic acids based on near infrared spectroscopy]. 61
28905565 2016
39
New frontiers in pharmaceutical analysis: A metabolomic approach to check batch compliance of complex products based on natural substances. 61
27155737 2016
40
A novel position-sensitive mega-size dosimeter for photoneutrons in high-energy X-ray medical accelerators. 61
27174443 2016
41
Risk factors for patients with multiple synchronous primary cancers involving oral and oropharyngeal subsites. 61
26899291 2016
42
Volumetric navigated MEGA-SPECIAL for real-time motion and shim corrected GABA editing. 61
26663075 2016
43
Morpheus Spectral Counter: A computational tool for label-free quantitative mass spectrometry using the Morpheus search engine. 61
26791624 2016
44
A General Approach for Quantifying Nonlinear Connectivity in the Nervous System Based on Phase Coupling. 61
26404514 2016
45
Confidence limits for contribution plots in multivariate statistical process control using bootstrap estimates. 61
26826689 2016
46
A robust potency assay highlights significant donor variation of human mesenchymal stem/progenitor cell immune modulatory capacity and extended radio-resistance. 61
26620155 2015
47
Using combined evidence from replicates to evaluate ChIP-seq peaks. 61
25957351 2015
48
Formation of lipid bilayer membrane in a poly(dimethylsiloxane) microchip integrated with a stacked polycarbonate membrane support and an on-site nanoinjector. 61
26015832 2015
49
Myelodysplasia is in the niche: novel concepts and emerging therapies. 61
25394715 2015
50
Nanohybrid liposomal cerasomes with good physiological stability and rapid temperature responsiveness for high intensity focused ultrasound triggered local chemotherapy of cancer. 61
25599568 2015
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Variations for Palmoplantar Carcinoma, Multiple Self-Healing

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NLRP1 NM_001033053.2(NLRP1):c.2358-?_2528+?deldeletion Pathogenic 393318
2 NLRP1 NM_033004.4(NLRP1):c.230T>C (p.Met77Thr)SNV Pathogenic 50316 rs397514692 17:5487048-5487048 17:5583728-5583728
3 NLRP1 NM_033004.4(NLRP1):c.160G>A (p.Ala54Thr)SNV Pathogenic 375413 rs1057519492 17:5487118-5487118 17:5583798-5583798
4 NLRP1 NM_033004.4(NLRP1):c.197C>T (p.Ala66Val)SNV Likely pathogenic 375414 rs1057519493 17:5487081-5487081 17:5583761-5583761
5 NLRP1 NM_033004.4(NLRP1):c.922C>T (p.Arg308Ter)SNV Uncertain significance 225421 rs758319723 17:5463094-5463094 17:5559774-5559774
6 NLRP1 NM_033004.4(NLRP1):c.4181C>A (p.Thr1394Lys)SNV Uncertain significance 803299 17:5418315-5418315 17:5514995-5514995

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

73
# Symbol AA change Variation ID SNP ID
1 NLRP1 p.Met77Thr VAR_069901 rs397514692
2 NLRP1 p.Ala54Thr VAR_078798 rs105751949
3 NLRP1 p.Ala66Val VAR_078799 rs105751949

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Expression for Palmoplantar Carcinoma, Multiple Self-Healing

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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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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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