MCID: PCH012
MIFTS: 42

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 54 71
Pachyonychia Congenita, Type 2 52 69
Pachyonychia Congenita, Jackson-Lawler Type 13
Pachyonychia Congenita Jackson-Lawler Type 71
Pachyonychia Congenita Type 2 29
Pc2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

32
pachyonychia congenita 2:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Pachyonychia Congenita 2

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. (167210)

MalaCards based summary : Pachyonychia Congenita 2, also known as pachyonychia congenita, type 2, is related to steatocystoma multiplex and pachyonychia congenita 1, and has symptoms including sparse scalp hair, dry hair and nail dystrophy. 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 Acetylcholine and Nicotine 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

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
id Related Disease Score Top Affiliating Genes
1 steatocystoma multiplex 30.9 KRT16 KRT17 KRT6B
2 pachyonychia congenita 1 11.4
3 neuronitis 10.0
4 dicrocoeliasis 10.0 KRT16 KRT17
5 basal cell carcinoma 4 10.0 KRT16 KRT17
6 keratosis palmoplantaris striata iii 9.9 KRT16 KRT17
7 sclerosteosis 1 9.9 KRT16 KRT17
8 boylan dew greco syndrome 9.9 KRT16 KRT17
9 thyroiditis 9.8
10 pituitary adenoma 9.8
11 adenoma 9.8
12 hand dermatosis 9.8 KRT16 KRT17
13 hypochromic microcytic anemia 9.8 KRT16 KRT17
14 tinea nigra 9.7 KRT16 KRT17
15 diabetes insipidus 9.7
16 polycystic kidney disease 9.7
17 schizophrenia 9.7
18 pheochromocytoma 9.7
19 wolfram syndrome 9.7
20 islet cell tumor 9.7
21 pancreatitis 9.7
22 kidney disease 9.7
23 epidermolysis bullosa simplex, dowling-meara type 9.7 KRT16 KRT6B
24 ichthyosis, cyclic, with epidermolytic hyperkeratosis 9.6 KRT16 KRT17
25 telangiectasia, hereditary hemorrhagic, type 2 9.5 KRT16 KRT6B
26 ectodermal dysplasia 4, hair/nail type 9.4 KRT16 KRT17
27 bacteriuria 9.2 KRT16 KRT17 KRT6B
28 papilledema 9.2 KRT16 KRT17 KRT6B
29 palmoplantar keratoderma, nonepidermolytic, focal 9.1 KRT16 KRT17 KRT6B

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:

54

Head And Neck- Eyes:
sparse eyebrows

Head And Neck- Teeth:
neonatal teeth

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

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

Skin Nails & Hair- Nails:
nail dystrophy
subungual keratosis

Voice:
hoarse voice

Head And Neck- Mouth:
no oral leukoplakia


Clinical features from OMIM:

167210

Human phenotypes related to Pachyonychia Congenita 2:

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

UMLS symptoms related to Pachyonychia Congenita 2:


hoarseness

MGI Mouse Phenotypes related to Pachyonychia Congenita 2:

44
id 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 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 2 51-84-3 187
2
Nicotine Approved Phase 2 54-11-5 942 89594
3 abobotulinumtoxinA Phase 2
4 Cholinergic Agents Phase 2
5 Neuromuscular Agents Phase 2
6 Neurotransmitter Agents Phase 2
7 Anesthetics Phase 2
8 onabotulinumtoxinA Phase 2
9 Peripheral Nervous System Agents Phase 2
10 Pharmaceutical Solutions Phase 2,Phase 1
11 Botulinum Toxins Phase 2
12 Botulinum Toxins, Type A Phase 2
13
Bilirubin Phase 2 635-65-4 5280352
14 Central Nervous System Stimulants Phase 2
15 Gastrins Phase 2
16 Nicotinic Agonists Phase 2
17 Hormone Antagonists Phase 2
18 Hormones Phase 2
19 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
20 Immunoglobulins Phase 2
21 Antibodies Phase 2
22 Autonomic Agents Phase 2
23 Lecithin Nutraceutical Phase 2
24
Pravastatin Approved 81093-37-0 54687
25
Simvastatin Approved 79902-63-9 54454
26
Aspirin Approved, Vet_approved 50-78-2 2244
27
Fluoxetine Approved, Vet_approved 54910-89-3 3386
28 Atorvastatin Calcium 134523-03-8
29 Rosuvastatin Calcium 147098-20-2
30
Serotonin 50-67-9 5202
31 Analgesics
32
protease inhibitors
33 Fibrinolytic Agents
34 Serotonin Agents
35 Serotonin Uptake Inhibitors
36 Cyclooxygenase Inhibitors
37 Analgesics, Non-Narcotic
38 Neurotransmitter Uptake Inhibitors
39 Cytochrome P-450 CYP2D6 Inhibitors
40 Androgens
41 HIV Protease Inhibitors
42 Cytochrome P-450 Enzyme Inhibitors
43 Angiotensin Receptor Antagonists
44 Angiotensin-Converting Enzyme Inhibitors
45 Hydroxymethylglutaryl-CoA Reductase Inhibitors
46 Hypolipidemic Agents
47 Platelet Aggregation Inhibitors
48 Anticholesteremic Agents
49 Anti-Inflammatory Agents
50 Antidepressive Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita Unknown status NCT00936533 Phase 2 Dysport® (Botulinumtoxin A (Btx A));Placebo
2 Single Centre Study to Determine the Antibody Response to G17DT in Patients With Advanced Pancreatic Cancer. Completed NCT02098239 Phase 2 G17DT
3 Retarded Phosphatidylcholine in Steroid-Dependent Chronic Active Ulcerative Colitis Completed NCT00259545 Phase 2 Retarded Release Phosphatidylcholine (rPC)
4 Assessment of V0018 1.5 mg Effect on Craving Completed NCT02359201 Phase 2 V0018;Placebo
5 Assessment of V0018 2.5 mg Effect on Craving Completed NCT02357888 Phase 2 V0018;Placebo
6 Study of TD101, a Small Interfering RNA (siRNA) Designed for Treatment of Pachyonychia Congenita Completed NCT00716014 Phase 1 TD101;Normal saline (placebo)
7 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
8 Acupuncture for Ischemic Post-stroke Depression Recruiting NCT02472613 placebo;Fluoxetine
9 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:

id Genetic test Affiliating Genes
1 Pachyonychia Congenita Type 2 29

Anatomical Context for Pachyonychia Congenita 2

MalaCards organs/tissues related to Pachyonychia Congenita 2:

39
Prostate

Publications for Pachyonychia Congenita 2

Variations for Pachyonychia Congenita 2

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

71 (show all 15)
id 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)
id 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 KRT16 KRT17 KRT6B
2 11.74 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:

id 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:

id 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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