MCID: PCH012
MIFTS: 47

Pachyonychia Congenita 2

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

Aliases & Classifications for Pachyonychia Congenita 2

MalaCards integrated aliases for Pachyonychia Congenita 2:

Name: Pachyonychia Congenita 2 53 71 28
Pachyonychia Congenita, Type 2 51 69
Pc2 53 71
Pachyonychia Congenita, Jackson-Lawler Type, Formerly 53
Pachyonychia Congenita, Jackson-Lawler Type 13
Pachyonychia Congenita Jackson-Lawler Type 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

31
pachyonychia congenita 2:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Pachyonychia Congenita 2

OMIM : 53 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 pachyonychia congenita 3, and has symptoms including nail dystrophy, sparse scalp hair and hoarse voice. 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 Nicotine and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include prostate, and related phenotypes are craniofacial and digestive/alimentary

UniProtKB/Swiss-Prot : 71 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:

53
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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 31 HP:0008404
2 sparse scalp hair 31 HP:0002209
3 hoarse voice 31 HP:0001609
4 nail dysplasia 31 HP:0002164
5 subungual hyperkeratosis 31 HP:0008392
6 palmoplantar hyperkeratosis 31 HP:0000972
7 natal tooth 31 HP:0000695
8 dry hair 31 HP:0011359
9 steatocystoma multiplex 31 HP:0012035
10 palmoplantar hyperhidrosis 31 HP:0007410
11 folliculitis 31 HP:0025084
12 sparse and thin eyebrow 31 HP:0000535
13 epidermoid cyst 31 HP:0200040

UMLS symptoms related to Pachyonychia Congenita 2:


hoarseness

MGI Mouse Phenotypes related to Pachyonychia Congenita 2:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 KRT16 KRT17 KRT6B
2 digestive/alimentary MP:0005381 9.13 KRT16 KRT17 KRT6B
3 integument MP:0010771 8.8 KRT16 KRT17 KRT6B

Drugs & Therapeutics for Pachyonychia Congenita 2

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

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotine Approved Phase 2 54-11-5 89594 942
2 Antibodies Phase 2
3
Bilirubin Phase 2 635-65-4 5280352
4 Gastrins Phase 2
5 Hormone Antagonists Phase 2
6 Hormones Phase 2
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
8 Immunoglobulins Phase 2
9 Autonomic Agents Phase 2
10 Central Nervous System Stimulants Phase 2
11 Cholinergic Agents Phase 2
12 Neurotransmitter Agents Phase 2
13 Nicotinic Agonists Phase 2
14 Peripheral Nervous System Agents Phase 2
15 Lecithin Nutraceutical Phase 2
16
Aspirin Approved, Vet_approved 50-78-2 2244
17
Pravastatin Approved 81093-37-0 54687
18
Simvastatin Approved 79902-63-9 54454
19
Fluoxetine Approved, Vet_approved 54910-89-3 3386
20 Analgesics
21 Analgesics, Non-Narcotic
22 Androgens
23 Angiotensin Receptor Antagonists
24 Angiotensin-Converting Enzyme Inhibitors
25 Anticholesteremic Agents
26 Antihypertensive Agents
27 Anti-Inflammatory Agents
28 Anti-Inflammatory Agents, Non-Steroidal
29 Antimetabolites
30 Antipyretics
31 Antirheumatic Agents
32 Atorvastatin Calcium 134523-03-8
33 Calcium, Dietary
34 Cyclooxygenase Inhibitors
35 Fibrinolytic Agents
36 HIV Protease Inhibitors
37 Hydroxymethylglutaryl-CoA Reductase Inhibitors
38 Hypolipidemic Agents
39 Lipid Regulating Agents
40 Platelet Aggregation Inhibitors
41
protease inhibitors
42 Rosuvastatin Calcium 147098-20-2
43 Antidepressive Agents
44 Antidepressive Agents, Second-Generation
45 Cytochrome P-450 CYP2D6 Inhibitors
46 Cytochrome P-450 Enzyme Inhibitors
47 Neurotransmitter Uptake Inhibitors
48 Psychotropic Drugs
49
Serotonin 50-67-9 5202
50 Serotonin Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Single Centre Study to Determine the Antibody Response to G17DT in Patients With Advanced Pancreatic Cancer. Completed NCT02098239 Phase 2 G17DT
2 Retarded Phosphatidylcholine in Steroid-Dependent Chronic Active Ulcerative Colitis Completed NCT00259545 Phase 2 Retarded Release Phosphatidylcholine (rPC)
3 Assessment of V0018 1.5 mg Effect on Craving Completed NCT02359201 Phase 2 V0018;Placebo
4 Assessment of V0018 2.5 mg Effect on Craving Completed NCT02357888 Phase 2 V0018;Placebo
5 A RAndomizeD Intervention for Cardiovascular and Lifestyle Risk Factors in Prostate Cancer Patients Recruiting NCT03127631 Antiplatelet agent, such as Aspirin, or other low-dose antiplatelet agent;Statin, such as Simvastatin, Atorvastatin, Rosuvastatin, Pravastatin);ACE inhibitor
6 Acupuncture for Ischemic Post-stroke Depression Recruiting NCT02472613 placebo;Fluoxetine
7 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 28 KRT17

Anatomical Context for Pachyonychia Congenita 2

MalaCards organs/tissues related to Pachyonychia Congenita 2:

38
Prostate

Publications for Pachyonychia Congenita 2

Articles related to Pachyonychia Congenita 2:

(show all 24)
# Title Authors Year
1
Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2. ( 23855588 )
2013
2
A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2. ( 23278621 )
2013
3
Pachyonychia congenita type 2: an unusual presentation. ( 23249838 )
2013
4
Pachyonychia congenita type 2 (Jackson-Lawler syndrome) or PC-17: case report. ( 23683487 )
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
Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation. ( 19120334 )
2009
8
Pachyonychia congenita type 2. ( 19439901 )
2009
9
Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view. ( 19107515 )
2009
10
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
11
Pachyonychia congenita type 2: abnormal dentition extending into adulthood. ( 18547314 )
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
Pachyonychia congenita type 2: keratin 17 mutation in a Japanese case. ( 9632020 )
1998
22
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. ( 9767294 )
1998
23
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. ( 9618173 )
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:

71 (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 13)
# 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.275A> G (p.Asn92Ser) single nucleotide variant Pathogenic rs59151893 GRCh37 Chromosome 17, 39780487: 39780487
3 KRT17 NM_000422.2(KRT17): c.292T> G (p.Tyr98Asp) single nucleotide variant Pathogenic rs28933088 GRCh37 Chromosome 17, 39780470: 39780470
4 KRT17 NM_000422.2(KRT17): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic rs28928897 GRCh37 Chromosome 17, 39780481: 39780481
5 KRT17 NM_000422.2(KRT17): c.280C> T (p.Arg94Cys) single nucleotide variant Pathogenic rs58730926 GRCh37 Chromosome 17, 39780482: 39780482
6 KRT17 NM_000422.2(KRT17): c.263T> C (p.Met88Thr) single nucleotide variant Pathogenic rs28928898 GRCh37 Chromosome 17, 39780499: 39780499
7 KRT17 NM_000422.2(KRT17): c.281_295delGCCTGGCCTCCTACC (p.Arg94_Tyr98del) deletion Pathogenic rs57674130 GRCh37 Chromosome 17, 39780467: 39780481
8 KRT17 NM_000422.2(KRT17): c.281G> C (p.Arg94Pro) single nucleotide variant Pathogenic rs28928897 GRCh37 Chromosome 17, 39780481: 39780481
9 KRT17 NM_000422.2(KRT17): c.284T> A (p.Leu95Gln) single nucleotide variant Pathogenic rs28928899 GRCh37 Chromosome 17, 39780478: 39780478
10 KRT17 NM_000422.2(KRT17): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs28928899 GRCh37 Chromosome 17, 39780478: 39780478
11 KRT17 NM_000422.2(KRT17): c.296T> C (p.Leu99Pro) single nucleotide variant Pathogenic rs28933089 GRCh37 Chromosome 17, 39780466: 39780466
12 KRT17 NM_000422.2(KRT17): c.304G> A (p.Val102Met) single nucleotide variant Pathogenic rs59977263 GRCh37 Chromosome 17, 39780458: 39780458
13 KRT17 NM_000422.2(KRT17): c.290_292delCCT (p.Ser97del) deletion Pathogenic rs121912478 GRCh37 Chromosome 17, 39780470: 39780472

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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