PC1
MCID: PCH015
MIFTS: 59

Pachyonychia Congenita 1 (PC1)

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

Aliases & Classifications for Pachyonychia Congenita 1

MalaCards integrated aliases for Pachyonychia Congenita 1:

Name: Pachyonychia Congenita 1 56 73 29 6
Pachyonychia Congenita 12 24 52 25 58 36 43 15 71
Pachyonychia Congenita Syndrome 52 25 29 6
Jadassohn-Lewandowsky Syndrome 12 74 73
Pachyonychia Congenita, Jadassohn-Lewandowsky Type 12 13
Pachyonychia Congenita, Type 1 54 39
Congenital Pachyonychia 52 25
Pc1 56 73
Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly 56
Pachyonychia Congenita, Jadassohn Lewandowsky Type 71
Pachyonychia Congenita Jadassohn-Lewandowsky Type 73
Jackson-Lawler Type Pachyonychia Congenita 12
Pachyonychia Congenita Jackson-Lawler Type 74
Jadassohn-Lewandowsky Syndrome, Formerly 56
Jadassohn-Lewandowski Syndrome 25
Pachyonychia Congenita, Type 2 71
Pachyonychia Congenita Type 1 12
Jackson-Lawler Syndrome 25
Pc-1 17
Pc 58

Characteristics:

Orphanet epidemiological data:

58
pachyonychia congenita
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

31
pachyonychia congenita 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050449
OMIM 56 167200
OMIM Phenotypic Series 56 PS167200
KEGG 36 H00684
MeSH 43 D053549
NCIt 49 C84986
SNOMED-CT 67 39427000
MESH via Orphanet 44 D053549
ICD10 via Orphanet 33 Q84.5
UMLS via Orphanet 72 C0265334
Orphanet 58 ORPHA2309
MedGen 41 C1706595
UMLS 71 C0265334 C1706595 C1721007

Summaries for Pachyonychia Congenita 1

Genetics Home Reference : 25 Pachyonychia congenita is a condition that primarily affects the skin and nails. The signs and symptoms of this condition usually become apparent within the first few years of life. Almost everyone with pachyonychia congenita shows some signs of hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick and abnormally shaped. Most affected children also develop very painful blisters and calluses on the soles of the feet and, less commonly, on the palms of the hands. This condition is known as palmoplantar keratoderma. Severe blisters and calluses on the feet usually first begin to form in childhood when they first start to walk, and can make walking painful or impossible. Pachyonychia congenita can have several additional features, which vary among affected individuals. These features include thick, white patches on the tongue and inside of the cheeks (oral leukokeratosis); bumps called follicular keratoses that develop around hair follicles on the elbows, knees, and waistline; cysts in the armpits, groin, back, or scalp; and excessive sweating on the palms and soles (palmoplantar hyperhidrosis). Some affected individuals also develop widespread cysts called steatocystomas, which are filled with an oily substance called sebum that normally lubricates the skin and hair. Some babies with pachyonychia congenita have prenatal or natal teeth, which are teeth that are present at birth or in early infancy. In some cases, pachyonychia congenita can affect the voice box (larynx), causing hoarseness or breathing problems. Researchers used to distinguish pachyonychia congenita as one of two types, PC-1 or PC-2, based on the genetic cause and pattern of signs and symptoms. However, as more affected individuals were identified, it became clear that the features of the two types overlapped considerably. Now researchers prefer a description of pachyonychia congenita based on the gene that is altered.

MalaCards based summary : Pachyonychia Congenita 1, also known as pachyonychia congenita, is related to pachyonychia congenita 2 and steatocystoma multiplex, and has symptoms including hoarseness An important gene associated with Pachyonychia Congenita 1 is KRT16 (Keratin 16), and among its related pathways/superpathways are Estrogen signaling pathway and Developmental Biology. The drugs Pregabalin and Morphine have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and lung, and related phenotypes are palmoplantar keratoderma and oral leukoplakia

Disease Ontology : 12 A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has material basis in gene mutations that result in changes in keratin.

NIH Rare Diseases : 52 Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped . Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands (palmoplantar keratoderma ). Additional features include white patches on the tongue and inside of the mouth (leukokeratosis); bumps around the elbows, knees, and waistline (follicular hyperkeratosis); and cysts of various types including steatocystoma. Features may vary among affected people depending on their specific mutation . PC is divided into 5 types based on the specific keratin gene involved: PC-K6a , PC-K6b , PC-K6c , PC-K16 , and PC-K17 . All forms are inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.

OMIM : 56 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). (167200)

KEGG : 36 Pachyonychia congenita (PC) is a group of autosomal dominant skin disorders characterized by hypertrophic nail dystrophy accompanied by other features of ectodermal dysplasia, prominently painful palmoplantar keratoderma. Additional clinical features include follicular hyperkeratosis, leukokeratosis of the oral mucosa, and various cysts (steatocysts and pilosebaceous cysts). It is caused by a mutation in one of four keratin genes KRT6A, KRT6B, KRT16, or KRT17.

UniProtKB/Swiss-Prot : 73 Pachyonychia congenita 1: An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present.

Wikipedia : 74 Pachyonychia congenita (often abbreviated as "PC") is a rare group of autosomal dominant skin disorders... more...

GeneReviews: NBK1280

Related Diseases for Pachyonychia Congenita 1

Diseases in the Pachyonychia Congenita, Autosomal Recessive family:

Pachyonychia Congenita 1 Pachyonychia Congenita 2
Pachyonychia Congenita 3 Pachyonychia Congenita 4

Diseases related to Pachyonychia Congenita 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 236)
# Related Disease Score Top Affiliating Genes
1 pachyonychia congenita 2 35.3 KRT6B KRT17 KRT16
2 steatocystoma multiplex 32.9 KRT6B KRT6A KRT2 KRT17 KRT16 KRT10
3 keratosis 31.8 KRT9 KRT17 KRT10 KRT1 FLG
4 epidermoid cysts 31.4 KRT6A KRT17
5 focal palmoplantar keratoderma 31.3 KRT6C KRT6B KRT6A KRT17 KRT16
6 ectodermal dysplasia 31.3 KRT17 KRT16 KRT14 GJB6
7 angular cheilitis 31.1 KRT6B KRT6A
8 leukoplakia 31.0 KRT4 KRT1
9 familial woolly hair syndrome 30.9 KRT86 KRT75 KRT6A
10 palmoplantar keratosis 30.9 LORICRIN KRT9 KRT6B KRT6A KRT2 KRT17
11 fissured tongue 30.9 KRT6A KRT16
12 median rhomboid glossitis 30.8 KRT6B KRT6A KRT17 KRT16
13 glossitis 30.8 KRT6B KRT6A KRT17 KRT16
14 pseudoainhum 30.8 LORICRIN GJB6
15 striate palmoplantar keratoderma 30.8 KRT14 KRT10 KRT1
16 knuckle pads 30.8 KRT9 GJB6
17 palmoplantar keratoderma, nonepidermolytic 30.7 KRT6C KRT6A KRT16 KRT1
18 palmoplantar keratoderma, nonepidermolytic, focal 1 30.6 KRT9 KRT6C KRT6B KRT6A KRT2 KRT16
19 papilloma 30.6 KRT14 KRT10 KRT1 FLG
20 porokeratosis 30.6 LORICRIN KRT16 KRT1 FLG
21 epidermolysis bullosa 30.5 LORICRIN KRT17 KRT16 KRT14 KRT10 KRT1
22 epidermolysis bullosa simplex 30.5 LORICRIN KRT17 KRT16 KRT14 KRT10 KRT1
23 autosomal dominant epidermolytic ichthyosis 30.4 KRT10 KRT1
24 ichthyosis vulgaris 30.3 LORICRIN KRT14 KRT10 KRT1 FLG
25 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 30.3 KRT75 KRT72 KRT6C KRT6B KRT6A KRT17
26 skin disease 30.2 LORICRIN KRT9 KRT6A KRT17 KRT16 KRT14
27 palmoplantar keratoderma, epidermolytic 29.8 LORICRIN KRT9 KRT86 KRT6A KRT2 KRT17
28 white sponge nevus 1 29.8 KRT86 KRT6B KRT6A KRT4 KRT2 KRT14
29 ichthyosis 29.4 LORICRIN KRT86 KRT4 KRT2 KRT17 KRT16
30 epidermolytic hyperkeratosis 29.2 LORICRIN KRT9 KRT6B KRT6A KRT4 KRT2
31 pachyonychia congenita 3 12.9
32 pachyonychia congenita 4 12.9
33 pachyonychia congenita, autosomal recessive 12.5
34 proprotein convertase 1/3 deficiency 11.3
35 teeth present at birth 10.8
36 erythrokeratoderma ''en cocardes'' 10.8
37 diabetes mellitus, noninsulin-dependent 10.7
38 rare genetic skin disease 10.6
39 alopecia 10.6
40 bowen's disease 10.5 KRT16 KRT10
41 occupational dermatitis 10.5 KRT6B FLG
42 erythroderma, ichthyosiform, congenital reticular 10.5 KRT10 KRT1
43 acrokeratoderma, hereditary papulotranslucent 10.5 KRT9 KRT1
44 vaccinia 10.5
45 acanthoma 10.5 KRT17 KRT10 KRT1
46 tinea corporis 10.5 KRT17 KRT16 FLG
47 ichthyosis, cyclic, with epidermolytic hyperkeratosis 10.5 KRT10 KRT1
48 filamentary keratitis 10.5 KRT1 FLG
49 keratinopathic ichthyosis 10.5 KRT2 KRT10 KRT1
50 eccrine papillary adenoma 10.5 KRT17 KRT14 KRT10

Graphical network of the top 20 diseases related to Pachyonychia Congenita 1:



Diseases related to Pachyonychia Congenita 1

Symptoms & Phenotypes for Pachyonychia Congenita 1

Human phenotypes related to Pachyonychia Congenita 1:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
2 oral leukoplakia 58 31 hallmark (90%) Frequent (79-30%) HP:0002745
3 nail dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008404
4 hyperhidrosis 31 hallmark (90%) HP:0000975
5 abnormality of nail color 31 hallmark (90%) HP:0100643
6 onychogryposis 31 hallmark (90%) HP:0001805
7 epidermoid cyst 58 31 frequent (33%) Frequent (79-30%) HP:0200040
8 carious teeth 31 frequent (33%) HP:0000670
9 ichthyosis 31 frequent (33%) HP:0008064
10 abnormal blistering of the skin 31 frequent (33%) HP:0008066
11 skin plaque 31 frequent (33%) HP:0200035
12 alopecia 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001596
13 cataract 31 occasional (7.5%) HP:0000518
14 hepatomegaly 31 occasional (7.5%) HP:0002240
15 cognitive impairment 31 occasional (7.5%) HP:0100543
16 respiratory insufficiency 31 occasional (7.5%) HP:0002093
17 corneal dystrophy 31 occasional (7.5%) HP:0001131
18 laryngomalacia 31 occasional (7.5%) HP:0001601
19 anonychia 31 occasional (7.5%) HP:0001798
20 abnormal fingernail morphology 31 occasional (7.5%) HP:0001231
21 follicular hyperkeratosis 58 31 Frequent (79-30%) HP:0007502
22 failure to thrive 58 Occasional (29-5%)
23 feeding difficulties 58 Occasional (29-5%)
24 hoarse voice 58 Very rare (<4-1%)
25 advanced eruption of teeth 58 Occasional (29-5%)
26 fingernail dysplasia 58 Frequent (79-30%)
27 respiratory distress 58 Very rare (<4-1%)
28 hyperplastic callus formation 58 Very frequent (99-80%)
29 paronychia 58 Occasional (29-5%)
30 palmoplantar hyperkeratosis 31 HP:0000972
31 onychogryposis of toenails 58 Very frequent (99-80%)
32 natal tooth 58 Occasional (29-5%)
33 steatocystoma multiplex 58 Frequent (79-30%)
34 lower limb pain 58 Very frequent (99-80%)
35 ear pain 58 Occasional (29-5%)
36 onychogryposis of fingernail 58 Frequent (79-30%)
37 palmoplantar hyperhidrosis 58 Frequent (79-30%)
38 palmar hyperkeratosis 58 Frequent (79-30%)
39 cutaneous cyst 58 Frequent (79-30%)
40 palmoplantar blistering 58 Very frequent (99-80%)
41 linear arrays of macular hyperkeratoses in flexural areas 58 Frequent (79-30%)
42 eruptive vellus hair cyst 58 Occasional (29-5%)
43 angular cheilitis 58 Very rare (<4-1%)

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
follicular hyperkeratosis
palmoplantar hyperkeratosis

Head And Neck Mouth:
oral leukokeratosis

Skin Nails Hair Nails:
onychogryposis

Clinical features from OMIM:

167200

UMLS symptoms related to Pachyonychia Congenita 1:


hoarseness

GenomeRNAi Phenotypes related to Pachyonychia Congenita 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.47 KRT6C KRT75
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.47 KRT6A KRT6C
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.47 KRT6A KRT6C KRT75
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.47 KRT6A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.47 KRT6A KRT6C
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.47 KRT6A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.47 KRT6A KRT6C
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.47 KRT75

MGI Mouse Phenotypes related to Pachyonychia Congenita 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.23 GJB6 KRT1 KRT14 KRT16 KRT17 KRT4

Drugs & Therapeutics for Pachyonychia Congenita 1

Drugs for Pachyonychia Congenita 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
2
Morphine Approved, Investigational Phase 4 57-27-2 5288826
3 Anesthetics Phase 4
4 Hormones Phase 4
5 Anti-Anxiety Agents Phase 4
6 Psychotropic Drugs Phase 4
7 Anticonvulsants Phase 4
8 Calcium, Dietary Phase 4
9 calcium channel blockers Phase 4
10
Calcium Nutraceutical Phase 4 7440-70-2 271
11
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
12
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
13
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
14
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
15
Pancrelipase Approved, Investigational Phase 2 53608-75-6
16
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538
17 Pharmaceutical Solutions Phase 2
18 abobotulinumtoxinA Phase 2
19 Cholinergic Agents Phase 2
20 Botulinum Toxins Phase 2
21 Botulinum Toxins, Type A Phase 2
22 Neurotransmitter Agents Phase 2
23 Albumin-Bound Paclitaxel Phase 2
24 Analgesics Phase 2
25 Cyclooxygenase 2 Inhibitors Phase 2
26 Cyclooxygenase Inhibitors Phase 2
27 Analgesics, Non-Narcotic Phase 2
28 Antirheumatic Agents Phase 2
29 Anti-Inflammatory Agents Phase 2
30 Anti-Inflammatory Agents, Non-Steroidal Phase 2
31 pancreatin Phase 2
32
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
33
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
34
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
35 Immunologic Factors Phase 1
36 Anti-Infective Agents Phase 1
37 Anti-Bacterial Agents Phase 1
38 Immunosuppressive Agents Phase 1
39 Antifungal Agents Phase 1
40 Antibiotics, Antitubercular Phase 1
41
Simvastatin Approved 79902-63-9 54454
42
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
43
Nitric Oxide Approved 10102-43-9 145068
44
Ethanol Approved 64-17-5 702
45 Hypolipidemic Agents
46 Hydroxymethylglutaryl-CoA Reductase Inhibitors
47 Lipid Regulating Agents
48 Anticholesteremic Agents
49 Antimetabolites

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Multi-center Clinical Evaluation of PC 1-Day vs 1-Day Acuvue Moist Completed NCT02024698 Phase 4
2 Comparison of Analgesic Efficacy Among Pregabalin, Celecoxib, Pregabalin With Celecoxib and Placebo After Total Knee Arthroplasty Under Intrathecal Morphine Completed NCT01344213 Phase 4 Pregabalin;Celecoxib;Pregabalin with celecoxib;Placebo
3 A Multicenter, Four-Part, Phase 2/3 Study Evaluating the Safety and Efficacy of PTX-022 in the Treatment of Adults With Moderate to Severe Pachyonychia Congenita Recruiting NCT03920228 Phase 2, Phase 3 PTX-022;Placebo
4 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita - a Double-blind Placebo-controlled Phase II Proof of Concept Study Unknown status NCT00936533 Phase 2 Dysport® (Botulinumtoxin A (Btx A));Placebo
5 Randomized Phase II Trial: Effect of All-trans Retinoic Acid With Chemotherapy Based in Paclitaxel and Cisplatin as First Line Treatment of Patients With Advanced Non-small Cell Lung Cancer Completed NCT01048645 Phase 2 ATRA
6 A Phase II Trial of Celecoxib in Patients With IPMN Terminated NCT00198081 Phase 2 COX-2 Inhibitor 6-8 weeks prior to surgery;COX-2 Inhibitor for 6 months prior to follow-up EUS or ERCP
7 Phase 1b Clinical Trial Using Topical Sirolimus for the Treatment of Pachyonychia Congenita Completed NCT02152007 Phase 1 1% sirolimus cream (TD201 1%)
8 A Single-Center, Placebo-Controlled, Rising Dose to Tolerance and Safety Study of TD101, an siRNA Designed for Treatment of Pachyonychia Congenita Completed NCT00716014 Phase 1 TD101;Normal saline (placebo)
9 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Completed NCT02592954 Phase 1 Jojoba oil with broccoli sprout extract;Jojoba oil (placebo)
10 Simvastatin Treatment of Pachyonychia Congenita Unknown status NCT01382511 Simvastatine
11 Comparison of Quadratus Lumborum Block and Transversus Abdominis Plane Block for Postoperative Pain Control After Laparoscopic Cholecystectomy Unknown status NCT03112915
12 Proclear 1-D Multifocal Nondispensing Study Completed NCT01526902
13 Fetal Alcohol Spectrum Disorder-Is This a Ciliopathy? Completed NCT03802708
14 International Pachyonychia Congenita Research Registry Recruiting NCT02321423

Search NIH Clinical Center for Pachyonychia Congenita 1

Cochrane evidence based reviews: pachyonychia congenita

Genetic Tests for Pachyonychia Congenita 1

Genetic tests related to Pachyonychia Congenita 1:

# Genetic test Affiliating Genes
1 Pachyonychia Congenita 1 29 KRT16
2 Pachyonychia Congenita Syndrome 29

Anatomical Context for Pachyonychia Congenita 1

MalaCards organs/tissues related to Pachyonychia Congenita 1:

40
Skin, Tongue, Lung, Bone, B Cells

Publications for Pachyonychia Congenita 1

Articles related to Pachyonychia Congenita 1:

(show top 50) (show all 388)
# Title Authors PMID Year
1
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. 61 6 56 54
11886499 2001
2
Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma. 6 56 61
22668561 2012
3
The genetic basis of pachyonychia congenita. 61 56 6
16250206 2005
4
Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. 61 6 56
11359398 2001
5
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1. 61 56 6
10521820 1999
6
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. 61 56 6
9618173 1998
7
Mutation of a type II keratin gene (K6a) in pachyonychia congenita. 56 6 61
7545493 1995
8
Keratin 16 and keratin 17 mutations cause pachyonychia congenita. 61 56 6
7539673 1995
9
The molecular genetic analysis of the expanding pachyonychia congenita case collection. 61 24 6
24611874 2014
10
Pachyonychia congenita in pediatric patients: natural history, features, and impact. 24 61 56
24132595 2014
11
A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. 56 24 61
22264670 2012
12
The phenotypic and molecular genetic features of pachyonychia congenita. 56 61 24
21430705 2011
13
Clinical and pathological features of pachyonychia congenita. 61 24 56
16250204 2005
14
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. 61 24 6
9767294 1998
15
Best treatment practices for pachyonychia congenita. 52 24 61
23363249 2014
16
Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1. 6 54 61
10606845 1999
17
Revisiting pachyonychia congenita: a case-cohort study of 815 patients. 56 61
31823354 2020
18
Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b. 61 6
24354895 2014
19
Pachyonychia Congenita 6 61
20301457 2006
20
A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2. 6 61
11874497 2002
21
Novel keratin 17 mutations in pachyonychia congenita type 2. 61 6
11348474 2001
22
Pachyonychia congenita tarda. 56 61
10954990 2000
23
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. 61 6
10839714 2000
24
Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2. 6 61
10571744 1999
25
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. 61 6
9008238 1997
26
Pachyonychia congenita tarda. 61 56
8698920 1996
27
Pachyonychia congenita tarda. 61 56
7671418 1995
28
A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. 61 6
7529318 1994
29
Pachyonychia congenita with late onset of nail dystrophy--a new clinical entity? 61 56
8252777 1993
30
Pachyonychia congenita tarda. A late-onset form of pachyonychia congenita. 61 56
1827243 1991
31
Pachyonychia congenita complicated by hidradenitis suppurativa: a family study. 6 61
2248894 1990
32
Pachyonychia congenita. 56 61
3053803 1988
33
Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome. 61 6
3954955 1986
34
Pachyonychia Congenita (Jadassohn-Lewandowsky syndrome): a seventeen-member, four-generation pedigree with unusual respiratory and dental involvement. 56 61
6829608 1983
35
Pachyonychia congenita with involvement of the larynx. 56 61
1267708 1976
36
Pachyonychia congenita in six generations. 61 56
5586605 1967
37
Four hereditary mucosal syndromes: comparative histology and exfoliative cytology of Darier-White's disease, hereditary benign intraepithelial dyskeratosis, white sponge nevus, and pachyonychia congenita. 56 61
14007732 1961
38
Nail removal in pachyonychia congenita: Patient-reported survey outcomes. 24 61
28411774 2017
39
Peripheral neuropathic changes in pachyonychia congenita. 24 61
27776012 2016
40
Efficacy of botulinum toxin in pachyonychia congenita type 1: report of two new cases. 24 61
26445325 2016
41
Can skin disease cause neuropathic pain? A study in pachyonychia congenita. 61 24
26358843 2016
42
Mutations in GJB6 causing phenotype resembling pachyonychia congenita. 61 24
25385569 2015
43
Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita. 61 24
23374899 2013
44
An appraisal of oral retinoids in the treatment of pachyonychia congenita. 24 61
21601946 2012
45
Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16. 24 61
22098151 2012
46
Paternal germ cell mosaicism in autosomal dominant pachyonychia congenita. 24 61
21576551 2011
47
A large mutational study in pachyonychia congenita. 61 24
21326300 2011
48
Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita. 24 61
21390048 2011
49
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. 24 61
21160496 2011
50
Botulinum toxin in the treatment of sweat-worsened foot problems in patients with epidermolysis bullosa simplex and pachyonychia congenita. 24 61
20618323 2010

Variations for Pachyonychia Congenita 1

ClinVar genetic disease variations for Pachyonychia Congenita 1:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT16 NM_005557.4(KRT16):c.395T>C (p.Leu132Pro)SNV Pathogenic 14600 rs60944949 17:39768546-39768546 17:41612294-41612294
2 KRT16 NM_005557.4(KRT16):c.379C>T (p.Arg127Cys)SNV Pathogenic 14601 rs59856285 17:39768562-39768562 17:41612310-41612310
3 KRT16 NM_005557.4(KRT16):c.374A>G (p.Asn125Ser)SNV Pathogenic 14602 rs60723330 17:39768567-39768567 17:41612315-41612315
4 KRT16 NM_005557.4(KRT16):c.386_388CCT[1] (p.Ser130del)short repeat Pathogenic 14603 rs58181827 17:39768550-39768552 17:41612298-41612300
5 KRT16 NM_005557.4(KRT16):c.380G>C (p.Arg127Pro)SNV Pathogenic 14604 rs57424749 17:39768561-39768561 17:41612309-41612309
6 KRT16 NM_005557.4(KRT16):c.365A>C (p.Gln122Pro)SNV Pathogenic 14605 rs59349773 17:39768576-39768576 17:41612324-41612324
7 KRT16 NM_005557.4(KRT16):c.371T>G (p.Leu124Arg)SNV Pathogenic 14606 rs58293603 17:39768570-39768570 17:41612318-41612318
8 KRT16 NM_005557.4(KRT16):c.362T>C (p.Met121Thr)SNV Pathogenic 14608 rs28928894 17:39768579-39768579 17:41612327-41612327
9 KRT16 NM_005557.4(KRT16):c.383T>A (p.Leu128Gln)SNV Pathogenic 14609 rs28928895 17:39768558-39768558 17:41612306-41612306
10 KRT16 NM_005557.4(KRT16):c.373A>G (p.Asn125Asp)SNV Pathogenic 66608 rs58608173 17:39768568-39768568 17:41612316-41612316
11 KRT16 NM_005557.4(KRT16):c.373_374delinsGG (p.Asn125Gly)indel Pathogenic 156024 rs587777717 17:39768567-39768568 17:41612315-41612316
12 KRT17 NM_000422.3(KRT17):c.275A>G (p.Asn92Ser)SNV Pathogenic/Likely pathogenic 14587 rs59151893 17:39780487-39780487 17:41624235-41624235
13 KRT16 NM_005557.4(KRT16):c.365A>G (p.Gln122Arg)SNV Likely pathogenic 216955 rs59349773 17:39768576-39768576 17:41612324-41612324
14 KRT16 NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn)SNV Likely pathogenic 14607 rs59328451 17:39766801-39766801 17:41610549-41610549
15 KRT16 NM_005557.4(KRT16):c.539C>T (p.Ala180Val)SNV Conflicting interpretations of pathogenicity 587419 rs142750223 17:39767966-39767966 17:41611714-41611714

UniProtKB/Swiss-Prot genetic disease variations for Pachyonychia Congenita 1:

73 (show all 14)
# Symbol AA change Variation ID SNP ID
1 KRT16 p.Leu132Pro VAR_003846 rs60944949
2 KRT16 p.Asn125Ser VAR_009183 rs60723330
3 KRT16 p.Arg127Cys VAR_009184 rs59856285
4 KRT16 p.Gln122Pro VAR_012855 rs59349773
5 KRT16 p.Arg127Pro VAR_012856 rs57424749
6 KRT16 p.Leu124Arg VAR_013837 rs58293603
7 KRT16 p.Met121Thr VAR_017065 rs28928894
8 KRT16 p.Leu128Gln VAR_017066 rs28928895
9 KRT16 p.Lys354Asn VAR_017067 rs59328451
10 KRT16 p.Leu124His VAR_072436 rs58293603
11 KRT16 p.Leu124Pro VAR_072437 rs58293603
12 KRT16 p.Asn125Asp VAR_072438 rs58608173
13 KRT16 p.Asn125Gly VAR_072439 rs587777717
14 KRT16 p.Leu421Pro VAR_072440

Expression for Pachyonychia Congenita 1

Search GEO for disease gene expression data for Pachyonychia Congenita 1.

Pathways for Pachyonychia Congenita 1

Pathways related to Pachyonychia Congenita 1 according to KEGG:

36
# Name Kegg Source Accession
1 Estrogen signaling pathway hsa04915

Pathways related to Pachyonychia Congenita 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 LORICRIN KRT9 KRT86 KRT75 KRT72 KRT6C
2
Show member pathways
12.36 KRT9 KRT17 KRT16 KRT14 KRT10
3 12.29 KRT6C KRT6B KRT6A KRT4 KRT17 KRT10
4
Show member pathways
11.98 LORICRIN KRT9 KRT86 KRT75 KRT72 KRT6C
5
Show member pathways
11.79 KRT6C KRT6A KRT4 KRT2 KRT17 KRT16
6 11.64 KRT9 KRT17 KRT16 KRT14 KRT10

GO Terms for Pachyonychia Congenita 1

Cellular components related to Pachyonychia Congenita 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.11 NUDT18 LORICRIN KRT9 KRT86 KRT75 KRT72
2 extracellular exosome GO:0070062 10.06 KRT9 KRT75 KRT72 KRT6C KRT6B KRT6A
3 cornified envelope GO:0001533 9.65 LORICRIN KRT2 KRT10 KRT1 FLG
4 keratin filament GO:0045095 9.65 KRT86 KRT75 KRT72 KRT6C KRT6B KRT6A
5 intermediate filament GO:0005882 9.5 KRT9 KRT86 KRT75 KRT72 KRT6C KRT6B

Biological processes related to Pachyonychia Congenita 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.83 LORICRIN KRT9 KRT86 KRT75 KRT72 KRT6C
2 cytoskeleton organization GO:0007010 9.72 LORICRIN KRT6B KRT6A KRT4 KRT16
3 epidermis development GO:0008544 9.7 KRT9 KRT2 KRT14
4 establishment of skin barrier GO:0061436 9.61 KRT16 KRT1 FLG
5 morphogenesis of an epithelium GO:0002009 9.58 KRT6A KRT17 KRT16
6 keratinocyte differentiation GO:0030216 9.56 LORICRIN KRT16 KRT10 FLG
7 peptide cross-linking GO:0018149 9.55 LORICRIN KRT2 KRT10 KRT1 FLG
8 intermediate filament cytoskeleton organization GO:0045104 9.54 KRT6C KRT16
9 intermediate filament organization GO:0045109 9.54 KRT9 KRT2 KRT17
10 cornification GO:0070268 9.53 LORICRIN KRT9 KRT86 KRT75 KRT72 KRT6C
11 hair cycle GO:0042633 9.51 KRT16 KRT14
12 protein heterotetramerization GO:0051290 9.49 KRT10 KRT1
13 keratinocyte migration GO:0051546 9.48 KRT2 KRT16
14 positive regulation of epidermis development GO:0045684 9.46 KRT2 KRT10

Molecular functions related to Pachyonychia Congenita 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.7 LORICRIN KRT9 KRT6B KRT6A KRT2 KRT16
2 structural molecule activity GO:0005198 9.56 LORICRIN KRT9 KRT75 KRT17 KRT16 KRT14
3 structural constituent of epidermis GO:0030280 9.02 LORICRIN KRT2 KRT10 KRT1 FLG

Sources for Pachyonychia Congenita 1

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
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