MCID: PCH012
MIFTS: 47

Pachyonychia Congenita 2

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

Aliases & Classifications for Pachyonychia Congenita 2

MalaCards integrated aliases for Pachyonychia Congenita 2:

Name: Pachyonychia Congenita 2 57 75 29 6
Pachyonychia Congenita, Type 2 55 40 73
Pc2 57 75
Pachyonychia Congenita, Jackson-Lawler Type, Formerly 57
Pachyonychia Congenita, Jackson-Lawler Type 13
Pachyonychia Congenita Jackson-Lawler Type 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

32
pachyonychia congenita 2:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Pachyonychia Congenita 2

OMIM : 57 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. (167210)

MalaCards based summary : Pachyonychia Congenita 2, also known as pachyonychia congenita, type 2, is related to pachyonychia congenita 1 and neuronitis, and has symptoms including hoarseness An important gene associated with Pachyonychia Congenita 2 is KRT17 (Keratin 17), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. The drugs Anti-Infective Agents and Anti-Infective Agents, Local have been mentioned in the context of this disorder. Affiliated tissues include prostate, and related phenotypes are sparse and thin eyebrow and natal tooth

UniProtKB/Swiss-Prot : 75 Pachyonychia congenita 2: An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth.

Related Diseases for Pachyonychia Congenita 2

Graphical network of the top 20 diseases related to Pachyonychia Congenita 2:



Diseases related to Pachyonychia Congenita 2

Symptoms & Phenotypes for Pachyonychia Congenita 2

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Nails:
nail dystrophy
subungual keratosis

Skin Nails Hair Skin:
palmoplantar hyperkeratosis
palmoplantar hyperhidrosis
epidermoid cysts
folliculitis (back, axilla, pubic region)

Head And Neck Mouth:
no oral leukoplakia

Skin Nails Hair Hair:
dry, sparse scalp hair
absent/sparse eyebrows

Voice:
hoarse voice

Head And Neck Eyes:
sparse eyebrows

Head And Neck Teeth:
neonatal teeth


Clinical features from OMIM:

167210

Human phenotypes related to Pachyonychia Congenita 2:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 sparse and thin eyebrow 32 HP:0000535
2 natal tooth 32 HP:0000695
3 palmoplantar hyperkeratosis 32 HP:0000972
4 hoarse voice 32 HP:0001609
5 nail dysplasia 32 HP:0002164
6 sparse scalp hair 32 HP:0002209
7 palmoplantar hyperhidrosis 32 HP:0007410
8 subungual hyperkeratosis 32 HP:0008392
9 nail dystrophy 32 HP:0008404
10 dry hair 32 HP:0011359
11 steatocystoma multiplex 32 HP:0012035
12 folliculitis 32 HP:0025084
13 epidermoid cyst 32 HP:0200040

UMLS symptoms related to Pachyonychia Congenita 2:


hoarseness

MGI Mouse Phenotypes related to Pachyonychia Congenita 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 KRT6B KRT16 KRT17
2 digestive/alimentary MP:0005381 9.13 KRT6B KRT16 KRT17
3 integument MP:0010771 8.8 KRT17 KRT6B KRT16

Drugs & Therapeutics for Pachyonychia Congenita 2

Drugs for Pachyonychia Congenita 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Infective Agents Phase 4
2 Anti-Infective Agents, Local Phase 4
3 Benzalkonium Compounds Phase 4
4 Contraceptive Agents Phase 4
5 Spermatocidal Agents Phase 4
6
Nicotine Approved Phase 2 54-11-5 942 89594
7
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
8
Trametinib Approved Phase 2 871700-17-3 11707110
9 Antibodies Phase 2
10
Bilirubin Phase 2 635-65-4 5280352
11 Gastrins Phase 2
12 Hormone Antagonists Phase 2,Not Applicable
13 Hormones Phase 2,Not Applicable
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Not Applicable
15 Immunoglobulins Phase 2
16 Autonomic Agents Phase 2
17 Central Nervous System Stimulants Phase 2
18 Cholinergic Agents Phase 2
19 Neurotransmitter Agents Phase 2,Not Applicable
20 Nicotinic Agonists Phase 2
21 Peripheral Nervous System Agents Phase 2,Not Applicable
22 Protein Kinase Inhibitors Phase 2
23 Lecithin Nutraceutical Phase 2
24
Aspirin Approved, Vet_approved Not Applicable 50-78-2 2244
25
Pravastatin Approved Not Applicable 81093-37-0 54687
26
Simvastatin Approved Not Applicable 79902-63-9 54454
27
Fluoxetine Approved, Vet_approved Not Applicable 54910-89-3 3386
28 Analgesics Not Applicable
29 Analgesics, Non-Narcotic Not Applicable
30 Androgens Not Applicable
31 Angiotensin Receptor Antagonists Not Applicable
32 Angiotensin-Converting Enzyme Inhibitors Not Applicable
33 Anticholesteremic Agents Not Applicable
34 Antihypertensive Agents Not Applicable
35 Anti-Inflammatory Agents Not Applicable
36 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
37 Antimetabolites Not Applicable
38 Antipyretics Not Applicable
39 Antirheumatic Agents Not Applicable
40 Atorvastatin Calcium Not Applicable 134523-03-8
41 Calcium, Dietary Not Applicable
42 Cyclooxygenase Inhibitors Not Applicable
43 Fibrinolytic Agents Not Applicable
44 HIV Protease Inhibitors Not Applicable
45 Hydroxymethylglutaryl-CoA Reductase Inhibitors Not Applicable
46 Hypolipidemic Agents Not Applicable
47 Lipid Regulating Agents Not Applicable
48 Platelet Aggregation Inhibitors Not Applicable
49
protease inhibitors Not Applicable
50 Rosuvastatin Calcium Not Applicable 147098-20-2

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Contraceptive Efficacy, Tolerance and Acceptability of a Benzalkonium Chloride Spermicide Cream In Women Aged Over 40 Years of Age Recruiting NCT03102450 Phase 4 Benzalkonium Chloride Spermicide Cream
2 Does the Preoperative Midazolam Dose Affect Postoperative Pain? Not yet recruiting NCT03534895 Phase 4 Midazolam Injectable Solution;Postoperative analgesia;Rescue analgesia;Wound infiltration;Analgesia at home
3 Single Centre Study to Determine the Antibody Response to G17DT in Patients With Advanced Pancreatic Cancer. Completed NCT02098239 Phase 2 G17DT
4 Retarded Phosphatidylcholine in Steroid-Dependent Chronic Active Ulcerative Colitis Completed NCT00259545 Phase 2 Retarded Release Phosphatidylcholine (rPC)
5 Assessment of V0018 1.5 mg Effect on Craving Completed NCT02359201 Phase 2 V0018;Placebo
6 Assessment of V0018 2.5 mg Effect on Craving Completed NCT02357888 Phase 2 V0018;Placebo
7 Phase II Pediatric Study With Dabrafenib in Combination With Trametinib in Patients With HGG and LGG Recruiting NCT02684058 Phase 2 dabrafenib;trametinib;Carboplatin with vincristine
8 MOTIVATE Weight Loss Study Completed NCT01679158 Not Applicable
9 ULTIMATE Study for Weight Loss Completed NCT01771276 Not Applicable
10 A RAndomizeD Intervention for Cardiovascular and Lifestyle Risk Factors in Prostate Cancer Patients Recruiting NCT03127631 Not Applicable Antiplatelet agent, such as Aspirin, or other low-dose antiplatelet agent;Statin, such as Simvastatin, Atorvastatin, Rosuvastatin, Pravastatin);ACE inhibitor
11 Acupuncture for Ischemic Post-stroke Depression Recruiting NCT02472613 Not Applicable placebo;Fluoxetine
12 G-CREDIT (Gangnam-Cohort for Risk Evaluation of Diabetes and Impaired Glucose Tolerance) Not yet recruiting NCT02726256

Search NIH Clinical Center for Pachyonychia Congenita 2

Genetic Tests for Pachyonychia Congenita 2

Genetic tests related to Pachyonychia Congenita 2:

# Genetic test Affiliating Genes
1 Pachyonychia Congenita 2 29 KRT17

Anatomical Context for Pachyonychia Congenita 2

MalaCards organs/tissues related to Pachyonychia Congenita 2:

41
Prostate

Publications for Pachyonychia Congenita 2

Articles related to Pachyonychia Congenita 2:

(show all 24)
# Title Authors Year
1
Pachyonychia congenita type 2: an unusual presentation. ( 23249838 )
2013
2
Pachyonychia congenita type 2 (Jackson-Lawler syndrome) or PC-17: case report. ( 23683487 )
2013
3
Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2. ( 23855588 )
2013
4
A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2. ( 23278621 )
2013
5
Pachyonychia congenita type 2. ( 20854451 )
2011
6
[Keratin 17 mutation in pachyonychia congenita type 2 in a Chinese Han family]. ( 21287500 )
2011
7
Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view. ( 19107515 )
2009
8
Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation. ( 19120334 )
2009
9
Pachyonychia congenita type 2. ( 19439901 )
2009
10
Pachyonychia congenita type 2: abnormal dentition extending into adulthood. ( 18547314 )
2008
11
A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb. ( 18547302 )
2008
12
Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2. ( 18347808 )
2008
13
A novel mutation in K6b in pachyonychia congenita type 2. ( 17429440 )
2007
14
Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity. ( 16620218 )
2006
15
Identification of a recurrent mutation in keratin 17 in a Japanese family with pachyonychia congenita type 2. ( 15795125 )
2005
16
A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2. ( 15102078 )
2004
17
Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts. ( 12653736 )
2003
18
A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2. ( 11874497 )
2002
19
Novel keratin 17 mutations in pachyonychia congenita type 2. ( 11348474 )
2001
20
Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2. ( 10571744 )
1999
21
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. ( 9618173 )
1998
22
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. ( 9767294 )
1998
23
Pachyonychia congenita type 2: keratin 17 mutation in a Japanese case. ( 9632020 )
1998
24
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. ( 9008238 )
1997

Variations for Pachyonychia Congenita 2

UniProtKB/Swiss-Prot genetic disease variations for Pachyonychia Congenita 2:

75 (show all 15)
# Symbol AA change Variation ID SNP ID
1 KRT17 p.Asn92Asp VAR_003847 rs28928896
2 KRT17 p.Asn92Ser VAR_003849 rs59151893
3 KRT17 p.Tyr98Asp VAR_003851 rs28933088
4 KRT17 p.Met88Thr VAR_010512 rs28928898
5 KRT17 p.Arg94Cys VAR_010513 rs58730926
6 KRT17 p.Arg94Pro VAR_017068 rs28928897
7 KRT17 p.Leu95Gln VAR_017070 rs28928899
8 KRT17 p.Leu95Pro VAR_017071 rs28928899
9 KRT17 p.Leu99Pro VAR_017073 rs28933089
10 KRT17 p.Val102Met VAR_017074 rs59977263
11 KRT17 p.Asn109Asp VAR_037083 rs267607412
12 KRT17 p.Met88Lys VAR_072441 rs28928898
13 KRT17 p.Leu91Pro VAR_072442
14 KRT17 p.Leu388Pro VAR_072444 rs56690581
15 KRT17 p.Leu388Arg VAR_072445

ClinVar genetic disease variations for Pachyonychia Congenita 2:

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT17 NM_000422.2(KRT17): c.274A> G (p.Asn92Asp) single nucleotide variant Pathogenic rs28928896 GRCh37 Chromosome 17, 39780488: 39780488
2 KRT17 NM_000422.2(KRT17): c.274A> G (p.Asn92Asp) single nucleotide variant Pathogenic rs28928896 GRCh38 Chromosome 17, 41624236: 41624236
3 KRT17 NM_000422.2(KRT17): c.275A> G (p.Asn92Ser) single nucleotide variant Pathogenic rs59151893 GRCh37 Chromosome 17, 39780487: 39780487
4 KRT17 NM_000422.2(KRT17): c.275A> G (p.Asn92Ser) single nucleotide variant Pathogenic rs59151893 GRCh38 Chromosome 17, 41624235: 41624235
5 KRT17 NM_000422.2(KRT17): c.292T> G (p.Tyr98Asp) single nucleotide variant Pathogenic rs28933088 GRCh37 Chromosome 17, 39780470: 39780470
6 KRT17 NM_000422.2(KRT17): c.292T> G (p.Tyr98Asp) single nucleotide variant Pathogenic rs28933088 GRCh38 Chromosome 17, 41624218: 41624218
7 KRT17 NM_000422.2(KRT17): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic rs28928897 GRCh37 Chromosome 17, 39780481: 39780481
8 KRT17 NM_000422.2(KRT17): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic rs28928897 GRCh38 Chromosome 17, 41624229: 41624229
9 KRT17 NM_000422.2(KRT17): c.280C> T (p.Arg94Cys) single nucleotide variant Pathogenic rs58730926 GRCh37 Chromosome 17, 39780482: 39780482
10 KRT17 NM_000422.2(KRT17): c.280C> T (p.Arg94Cys) single nucleotide variant Pathogenic rs58730926 GRCh38 Chromosome 17, 41624230: 41624230
11 KRT17 NM_000422.2(KRT17): c.263T> C (p.Met88Thr) single nucleotide variant Pathogenic rs28928898 GRCh37 Chromosome 17, 39780499: 39780499
12 KRT17 NM_000422.2(KRT17): c.263T> C (p.Met88Thr) single nucleotide variant Pathogenic rs28928898 GRCh38 Chromosome 17, 41624247: 41624247
13 KRT17 NM_000422.2(KRT17): c.281_295delGCCTGGCCTCCTACC (p.Arg94_Tyr98del) deletion Pathogenic rs57674130 GRCh37 Chromosome 17, 39780467: 39780481
14 KRT17 NM_000422.2(KRT17): c.281_295delGCCTGGCCTCCTACC (p.Arg94_Tyr98del) deletion Pathogenic rs57674130 GRCh38 Chromosome 17, 41624215: 41624229
15 KRT17 NM_000422.2(KRT17): c.281G> C (p.Arg94Pro) single nucleotide variant Pathogenic rs28928897 GRCh37 Chromosome 17, 39780481: 39780481
16 KRT17 NM_000422.2(KRT17): c.281G> C (p.Arg94Pro) single nucleotide variant Pathogenic rs28928897 GRCh38 Chromosome 17, 41624229: 41624229
17 KRT17 NM_000422.2(KRT17): c.284T> A (p.Leu95Gln) single nucleotide variant Pathogenic rs28928899 GRCh37 Chromosome 17, 39780478: 39780478
18 KRT17 NM_000422.2(KRT17): c.284T> A (p.Leu95Gln) single nucleotide variant Pathogenic rs28928899 GRCh38 Chromosome 17, 41624226: 41624226
19 KRT17 NM_000422.2(KRT17): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs28928899 GRCh37 Chromosome 17, 39780478: 39780478
20 KRT17 NM_000422.2(KRT17): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs28928899 GRCh38 Chromosome 17, 41624226: 41624226
21 KRT17 NM_000422.2(KRT17): c.296T> C (p.Leu99Pro) single nucleotide variant Pathogenic rs28933089 GRCh37 Chromosome 17, 39780466: 39780466
22 KRT17 NM_000422.2(KRT17): c.296T> C (p.Leu99Pro) single nucleotide variant Pathogenic rs28933089 GRCh38 Chromosome 17, 41624214: 41624214
23 KRT17 NM_000422.2(KRT17): c.304G> A (p.Val102Met) single nucleotide variant Pathogenic rs59977263 GRCh37 Chromosome 17, 39780458: 39780458
24 KRT17 NM_000422.2(KRT17): c.304G> A (p.Val102Met) single nucleotide variant Pathogenic rs59977263 GRCh38 Chromosome 17, 41624206: 41624206
25 KRT17 NM_000422.2(KRT17): c.290_292delCCT (p.Ser97del) deletion Pathogenic rs121912478 GRCh37 Chromosome 17, 39780470: 39780472
26 KRT17 NM_000422.2(KRT17): c.290_292delCCT (p.Ser97del) deletion Pathogenic rs121912478 GRCh38 Chromosome 17, 41624218: 41624220
27 KRT6B NM_005555.3(KRT6B): c.332G> A (p.Gly111Asp) single nucleotide variant Benign rs61745883 GRCh37 Chromosome 12, 52845531: 52845531
28 KRT6B NM_005555.3(KRT6B): c.332G> A (p.Gly111Asp) single nucleotide variant Benign rs61745883 GRCh38 Chromosome 12, 52451747: 52451747

Expression for Pachyonychia Congenita 2

Search GEO for disease gene expression data for Pachyonychia Congenita 2.

Pathways for Pachyonychia Congenita 2

Pathways related to Pachyonychia Congenita 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 KRT16 KRT17 KRT6B
2 11.75 KRT17 KRT6B
3
Show member pathways
11.25 KRT16 KRT17 KRT6B
4
Show member pathways
10.99 KRT16 KRT17

GO Terms for Pachyonychia Congenita 2

Cellular components related to Pachyonychia Congenita 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.8 KRT16 KRT17 KRT6B

Biological processes related to Pachyonychia Congenita 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.26 KRT16 KRT6B
2 epidermis development GO:0008544 9.16 KRT16 KRT17
3 keratinization GO:0031424 9.13 KRT16 KRT17 KRT6B
4 cornification GO:0070268 8.8 KRT16 KRT17 KRT6B

Molecular functions related to Pachyonychia Congenita 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.96 KRT16 KRT17
2 structural constituent of cytoskeleton GO:0005200 8.8 KRT16 KRT17 KRT6B

Sources for Pachyonychia Congenita 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
45 MESH via Orphanet
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54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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