MCID: PCH010
MIFTS: 27

Pachyonychia Congenita 3

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Pachyonychia Congenita 3

Summaries for Pachyonychia Congenita 3

OMIM : 54
Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. (615726)

MalaCards based summary : Pachyonychia Congenita 3, also known as pc3, is related to prostatitis and prostate cancer, and has symptoms including palmoplantar keratoderma, plantar hyperkeratosis and gingivitis. An important gene associated with Pachyonychia Congenita 3 is KRT6A (Keratin 6A). The drugs Remifentanil and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include prostate and tongue.

UniProtKB/Swiss-Prot : 71 Pachyonychia congenita 3: An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts.

Related Diseases for Pachyonychia Congenita 3

Diseases in the Pachyonychia Congenita 1 family:

Pachyonychia Congenita 3 Pachyonychia Congenita 4
Pachyonychia Congenita 2 Krt16-Related Pachyonychia Congenita
Krt17-Related Pachyonychia Congenita Krt6a-Related Pachyonychia Congenita
Krt6b-Related Pachyonychia Congenita

Diseases related to Pachyonychia Congenita 3 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 prostatitis 10.7
2 prostate cancer 10.7
3 hypoxia 9.9
4 androgen insensitivity 9.8
5 small cell carcinoma 9.8
6 prostate small cell carcinoma 9.8
7 pituitary adenoma 9.7
8 medulloblastoma 9.7
9 adenoma 9.7
10 neuronitis 9.7

Graphical network of the top 20 diseases related to Pachyonychia Congenita 3:



Diseases related to Pachyonychia Congenita 3

Symptoms & Phenotypes for Pachyonychia Congenita 3

Clinical features from OMIM:

615726

Human phenotypes related to Pachyonychia Congenita 3:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 HP:0000982
2 plantar hyperkeratosis 32 HP:0007556
3 gingivitis 32 HP:0000230
4 hyperhidrosis 32 HP:0000975
5 furrowed tongue 32 HP:0000221
6 nail dystrophy 32 HP:0008404
7 oral leukoplakia 32 HP:0002745
8 palmar hyperkeratosis 32 HP:0010765
9 onychogryposis of toenails 32 HP:0008401
10 epidermal cyst 32 HP:0200040
11 chapped lip 32 HP:0040181

Drugs & Therapeutics for Pachyonychia Congenita 3

Drugs for Pachyonychia Congenita 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 48)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Remifentanil Approved Phase 4 132875-61-7 60815
2 Analgesics Phase 4
3 Analgesics, Opioid Phase 4
4 Anesthetics Phase 4
5 Anesthetics, General Phase 4
6 Anesthetics, Intravenous Phase 4
7 Central Nervous System Depressants Phase 4
8 Hypnotics and Sedatives Phase 4
9 Narcotics Phase 4
10 Peripheral Nervous System Agents Phase 4
11
Gemcitabine Approved Phase 3 95058-81-4 60750
12 Antibodies Phase 3
13 Anti-Infective Agents Phase 3,Phase 1
14 Antimetabolites Phase 3
15 Antimetabolites, Antineoplastic Phase 3
16 Antiviral Agents Phase 3
17 Gastrins Phase 3
18 Hormone Antagonists Phase 3,Phase 1,Phase 2
19 Hormones Phase 3,Phase 1,Phase 2
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2
21 Immunoglobulins Phase 3
22 Immunosuppressive Agents Phase 3,Phase 1,Phase 2
23
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
24
Testosterone Approved, Investigational Phase 1, Phase 2 58-22-0 6013
25 Keyhole-limpet hemocyanin Phase 1, Phase 2
26 Vaccines Phase 1, Phase 2
27 Alkylating Agents Phase 1, Phase 2
28 Androgens Phase 1, Phase 2
29 Antirheumatic Agents Phase 1, Phase 2
30 Lecithin Nutraceutical Phase 2
31
Everolimus Approved Phase 1 159351-69-6 6442177
32
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
33
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
34 Anti-Bacterial Agents Phase 1
35 Antibiotics, Antitubercular Phase 1
36 Antifungal Agents Phase 1
37
Fluoxetine Approved, Vet_approved 54910-89-3 3386
38 penicillins
39 Antidepressive Agents
40 Antidepressive Agents, Second-Generation
41 Cytochrome P-450 CYP2D6 Inhibitors
42 Cytochrome P-450 Enzyme Inhibitors
43 Neurotransmitter Agents
44 Neurotransmitter Uptake Inhibitors
45 Psychotropic Drugs
46
Serotonin 50-67-9 5202
47 Serotonin Agents
48 Serotonin Uptake Inhibitors

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 Concentrations of Remifentanil for Extubation Completed NCT02711904 Phase 4 Extubation U;Extubation T
2 An Open Label Study to Evaluate G17DT Compared to Gemcitabine Completed NCT03200821 Phase 3 Gemcitabine
3 Dendritic Cell Vaccine Study (DC/PC3) for Prostate Cancer Completed NCT00345293 Phase 1, Phase 2
4 Dose Finding Study for Retarded Phosphatidylcholine in Pancolitis Completed NCT00259558 Phase 2 retarded release phosphatidylcholine
5 A Neoadjuvant Study of Androgen Ablation Combined With Cyclophosphamide and GVAX Vaccine for Localized Prostate Cancer Active, not recruiting NCT01696877 Phase 1, Phase 2 degarelix acetate;Cyclophosphamide;GVAX
6 Selinexor (KPT-330) in Patients With Metastatic Castration-Resistant Prostate Cancer and Prior Therapy With Abiraterone and/or Enzalutamide Active, not recruiting NCT02215161 Phase 2 Selinexor
7 Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC) Completed NCT02152007 Phase 1 1% sirolimus cream (TD201 1%)
8 Desensitization of Human Mast Cells: Mechanisms and Potential Utility for Preventing Anaphylaxis Completed NCT00868842
9 Desensitization and Cross-Desensitization During Oral Grass or Ragweed Pollen Immunotherapy Recruiting NCT02676765 Allergen;Placebo
10 Local Effects of Acupuncture and Nerve Conduction Studies Recruiting NCT03036657
11 Acupuncture for Ischemic Post-stroke Depression Recruiting NCT02472613 placebo;Fluoxetine

Search NIH Clinical Center for Pachyonychia Congenita 3

Genetic Tests for Pachyonychia Congenita 3

Anatomical Context for Pachyonychia Congenita 3

MalaCards organs/tissues related to Pachyonychia Congenita 3:

39
Prostate, Tongue

Publications for Pachyonychia Congenita 3

Variations for Pachyonychia Congenita 3

UniProtKB/Swiss-Prot genetic disease variations for Pachyonychia Congenita 3:

71 (show all 24)
id Symbol AA change Variation ID SNP ID
1 KRT6A p.Phe174Val VAR_017075 rs28933087
2 KRT6A p.Leu469Arg VAR_017076 rs57052654
3 KRT6A p.Glu472Lys VAR_017077 rs60554162
4 KRT6A p.Arg164Pro VAR_072446 rs62635293
5 KRT6A p.Gln166Pro VAR_072447 rs267607460
6 KRT6A p.Ile167Asn VAR_072448 rs57126929
7 KRT6A p.Leu170Phe VAR_072449 rs57448541
8 KRT6A p.Asn171Asp VAR_072450 rs62635294
9 KRT6A p.Asn171Lys VAR_072451 rs59685571
10 KRT6A p.Asn171Ser VAR_072452 rs58556099
11 KRT6A p.Asn171Tyr VAR_072453 rs62635294
12 KRT6A p.Phe174Cys VAR_072455 rs61145796
13 KRT6A p.Phe174Ser VAR_072456 rs61145796
14 KRT6A p.Ser176Pro VAR_072457 rs59642296
15 KRT6A p.Ile178Asn VAR_072458 rs267607461
16 KRT6A p.Ile462Asn VAR_072459 rs57629991
17 KRT6A p.Ile462Ser VAR_072460 rs57629991
18 KRT6A p.Ala463Pro VAR_072461 rs267607462
19 KRT6A p.Thr464Pro VAR_072462 rs61293647
20 KRT6A p.Tyr465His VAR_072463 rs267607463
21 KRT6A p.Tyr465Ser VAR_072464
22 KRT6A p.Leu468Pro VAR_072465 rs59018888
23 KRT6A p.Leu468Gln VAR_072466 rs59018888
24 KRT6A p.Leu469Pro VAR_072467 rs57052654

ClinVar genetic disease variations for Pachyonychia Congenita 3:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT6A NM_005554.3(KRT6A): c.516_518delCAA (p.Asn172del) deletion Pathogenic rs606231214 GRCh37 Chromosome 12, 52886455: 52886457
2 KRT6A NM_005554.3(KRT6A): c.520T> G (p.Phe174Val) single nucleotide variant Pathogenic rs28933087 GRCh37 Chromosome 12, 52886453: 52886453
3 KRT6A NM_005554.3(KRT6A): c.1414G> A (p.Glu472Lys) single nucleotide variant Pathogenic rs60554162 GRCh37 Chromosome 12, 52882122: 52882122
4 KRT6A NM_005554.3(KRT6A): c.1406T> G (p.Leu469Arg) single nucleotide variant Pathogenic rs57052654 GRCh37 Chromosome 12, 52882130: 52882130
5 KRT6A NM_005554.3(KRT6A): c.1406T> C (p.Leu469Pro) single nucleotide variant Pathogenic rs57052654 GRCh37 Chromosome 12, 52882130: 52882130
6 KRT6A NM_005554.3(KRT6A): c.511A> G (p.Asn171Asp) single nucleotide variant Pathogenic rs62635294 GRCh37 Chromosome 12, 52886462: 52886462
7 KRT6A NM_005554.3(KRT6A): c.511A> T (p.Asn171Tyr) single nucleotide variant Pathogenic rs62635294 GRCh37 Chromosome 12, 52886462: 52886462
8 KRT6A NM_005554.3(KRT6A): c.512A> G (p.Asn171Ser) single nucleotide variant Pathogenic rs58556099 GRCh37 Chromosome 12, 52886461: 52886461
9 KRT6A NM_005554.3(KRT6A): c.513C> A (p.Asn171Lys) single nucleotide variant Pathogenic rs59685571 GRCh37 Chromosome 12, 52886460: 52886460
10 KRT6A NM_005554.3(KRT6A): c.521T> C (p.Phe174Ser) single nucleotide variant Pathogenic rs61145796 GRCh37 Chromosome 12, 52886452: 52886452
11 KRT6A NM_005554.3(KRT6A): c.1460-2A> C single nucleotide variant Pathogenic rs113369052 GRCh37 Chromosome 12, 52881741: 52881741

Expression for Pachyonychia Congenita 3

Search GEO for disease gene expression data for Pachyonychia Congenita 3.

Pathways for Pachyonychia Congenita 3

GO Terms for Pachyonychia Congenita 3

Sources for Pachyonychia Congenita 3

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