MCID: PCH015
MIFTS: 59

Pachyonychia Congenita 1

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

Aliases & Classifications for Pachyonychia Congenita 1

MalaCards integrated aliases for Pachyonychia Congenita 1:

Name: Pachyonychia Congenita 1 53 71 28
Pachyonychia Congenita 12 23 49 24 55 36 41 14 69
Pachyonychia Congenita Syndrome 49 24 28
Pachyonychia Congenita, Jadassohn-Lewandowsky Type 12 13
Jadassohn-Lewandowsky Syndrome 12 71
Congenital Pachyonychia 49 24
Pc1 53 71
Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly 53
Pachyonychia Congenita, Jadassohn Lewandowsky Type 69
Pachyonychia Congenita Jadassohn-Lewandowsky Type 71
Jackson-Lawler Type Pachyonychia Congenita 12
Jadassohn-Lewandowsky Syndrome, Formerly 53
Jadassohn-Lewandowski Syndrome 24
Pachyonychia Congenita, Type 1 51
Pachyonychia Congenita, Type 2 69
Pachyonychia Congenita Type 1 12
Jackson-Lawler Syndrome 24
Pc 55

Characteristics:

Orphanet epidemiological data:

55
pachyonychia congenita
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

31
pachyonychia congenita 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Pachyonychia Congenita 1

NIH Rare Diseases : 49 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. Last updated: 12/10/2015

MalaCards based summary : Pachyonychia Congenita 1, also known as pachyonychia congenita, is related to pachyonychia congenita 2 and proprotein convertase 1/3 deficiency, and has symptoms including hyperhidrosis, respiratory insufficiency and cataract. An important gene associated with Pachyonychia Congenita 1 is KRT16 (Keratin 16), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. The drugs Gemcitabine and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and prostate.

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). (167200)

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 Pachyonychia congenita is a condition that primarily affects the nails and skin. The signs and symptoms of this condition usually become apparent within the first few months of life.

Wikipedia : 72 Pachyonychia congenita is an autosomal dominant skin... 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 60)
# Related Disease Score Top Affiliating Genes
1 pachyonychia congenita 2 34.3 KRT16 KRT17 KRT6B
2 proprotein convertase 1/3 deficiency 10.9
3 fissured tongue 10.4 KRT16 KRT6A
4 tinea corporis 10.4 KRT16 KRT17
5 tongue disease 10.3 KRT6A KRT6B
6 epidermoid cysts 10.3 KRT17 KRT6A
7 basal cell carcinoma, infundibulocystic 10.3 KRT10 KRT17
8 epidermolytic acanthoma 10.3 KRT10 KRT9
9 squamous cell carcinoma of the oral tongue 10.3 KRT10 KRT16
10 acanthoma 10.3 KRT10 KRT9
11 large cell acanthoma 10.3 KRT10 KRT17
12 pinguecula 10.2 KRT10 KRT16
13 palmoplantar keratoderma, epidermolytic 10.2 KRT16 KRT17 KRT9
14 knuckle pads 10.1 GJB6 KRT9
15 steatocystoma multiplex 10.1 KRT10 KRT16 KRT17
16 bowen's disease 10.1 KRT10 KRT16 KRT17
17 keratosis, seborrheic 10.1 KRT10 KRT17
18 primary cutaneous amyloidosis 10.1 KRT10 KRT16 KRT17
19 palmoplantar keratosis 10.1 KRT10 KRT16 KRT9
20 irritant dermatitis 10.1 FLG KRT16
21 median rhomboid glossitis 10.0 KRT16 KRT17 KRT6A KRT6B
22 glossitis 10.0 KRT16 KRT17 KRT6A KRT6B
23 neuronitis 10.0
24 filamentary keratitis 10.0 FLG KRT10
25 ichthyosis, x-linked 10.0 FLG KRT10
26 thyroiditis 9.9
27 discoid lupus erythematosus 9.9 FLG KRT10 KRT16
28 basal cell carcinoma 9.9 KRT10 KRT16 KRT17
29 cholesteatoma 9.9 FLG KRT10 KRT16
30 lichen planus 9.9 FLG KRT10 KRT16
31 epidermolysis bullosa simplex 9.9 FLG KRT10 KRT17
32 ichthyosis, congenital, autosomal recessive 1 9.8 FLG KRT10
33 prader-willi syndrome 9.8
34 body mass index quantitative trait locus 11 9.8
35 body mass index quantitative trait locus 9 9.8
36 body mass index quantitative trait locus 8 9.8
37 body mass index quantitative trait locus 4 9.8
38 body mass index quantitative trait locus 10 9.8
39 body mass index quantitative trait locus 7 9.8
40 body mass index quantitative trait locus 12 9.8
41 body mass index quantitative trait locus 14 9.8
42 obesity, hyperphagia, and developmental delay 9.8
43 body mass index quantitative trait locus 18 9.8
44 pachyonychia congenita 3 9.8
45 pituitary adenoma 9.8
46 pancreatitis 9.8
47 adenoma 9.8
48 ichthyosis 9.8 FLG KRT10 KRT2
49 epidermodysplasia verruciformis 9.7 FLG KRT10
50 contact dermatitis 9.7 FLG KRT16

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



Diseases related to Pachyonychia Congenita 1

Symptoms & Phenotypes for Pachyonychia Congenita 1

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
palmoplantar hyperkeratosis
follicular hyperkeratosis

Skin Nails Hair Nails:
onychogryposis

Head And Neck Mouth:
oral leukokeratosis


Clinical features from OMIM:

167200

Human phenotypes related to Pachyonychia Congenita 1:

55 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000975
2 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
3 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
4 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
5 carious teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000670
6 ichthyosis 55 31 frequent (33%) Frequent (79-30%) HP:0008064
7 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543
8 laryngomalacia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001601
9 palmoplantar keratoderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000982
10 nail dystrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0008404
11 abnormal blistering of the skin 55 31 frequent (33%) Frequent (79-30%) HP:0008066
12 corneal dystrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001131
13 abnormality of the fingernails 55 31 occasional (7.5%) Occasional (29-5%) HP:0001231
14 alopecia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001596
15 anonychia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001798
16 oral leukoplakia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002745
17 skin plaque 55 31 frequent (33%) Frequent (79-30%) HP:0200035
18 abnormality of nail color 55 31 hallmark (90%) Very frequent (99-80%) HP:0100643
19 thick nail 55 31 hallmark (90%) Very frequent (99-80%) HP:0001805
20 abnormality of the dentition 55 Frequent (79-30%)
21 abnormality of the nail 55 Very frequent (99-80%)
22 abnormality of the hair 55 Very frequent (99-80%)
23 palmoplantar hyperkeratosis 31 HP:0000972
24 follicular hyperkeratosis 31 HP:0007502
25 epidermal cyst 55 Frequent (79-30%)
26 epidermoid cyst 31 frequent (33%) HP:0200040

UMLS symptoms related to Pachyonychia Congenita 1:


hoarseness

Drugs & Therapeutics for Pachyonychia Congenita 1

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

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gemcitabine Approved Phase 3,Phase 2 95058-81-4 60750
2 Anti-Infective Agents Phase 3,Phase 2,Phase 1
3 Antimetabolites Phase 3,Phase 2,Not Applicable
4 Antimetabolites, Antineoplastic Phase 3,Phase 2
5 Antiviral Agents Phase 3,Phase 2
6 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
7
Acetylcholine Approved Phase 2 51-84-3 187
8
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
9
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
10
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
11
Heparin Approved, Investigational Phase 2 9005-49-6 46507594 772
12
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
13
Radium Ra 223 dichloride Approved, Investigational Phase 2 444811-40-9
14 abobotulinumtoxinA Phase 2
15 Anesthetics Phase 2
16 Botulinum Toxins Phase 2
17 Botulinum Toxins, Type A Phase 2
18 Cholinergic Agents Phase 2,Phase 1
19 Neuromuscular Agents Phase 2
20 Neurotransmitter Agents Phase 2,Phase 1
21 onabotulinumtoxinA Phase 2
22 Peripheral Nervous System Agents Phase 2,Phase 1
23 Pharmaceutical Solutions Phase 2,Phase 1
24 Antibodies Phase 2
25 Immunoglobulins Phase 2
26 Anti-Bacterial Agents Phase 2,Phase 1
27 Antibiotics, Antitubercular Phase 2,Phase 1
28 Antifungal Agents Phase 2,Phase 1
29 Antihypertensive Agents Phase 2,Early Phase 1
30 Albumin-Bound Paclitaxel Phase 2
31 Anticoagulants Phase 2
32 Antimitotic Agents Phase 2
33 Antineoplastic Agents, Phytogenic Phase 2
34 calcium heparin Phase 2
35 Calcium, Dietary Phase 2
36 Fibrinolytic Agents Phase 2
37
Nicotine Approved Phase 1 54-11-5 89594 942
38 Autonomic Agents Phase 1
39 Central Nervous System Stimulants Phase 1
40 Nicotinic Agonists Phase 1
41
Simvastatin Approved Not Applicable 79902-63-9 54454
42
Aspirin Approved, Vet_approved 50-78-2 2244
43
Pravastatin Approved 81093-37-0 54687
44
Hydralazine Approved Early Phase 1 86-54-4 3637
45 Anticholesteremic Agents Not Applicable
46 Hydroxymethylglutaryl-CoA Reductase Inhibitors Not Applicable
47 Hypolipidemic Agents Not Applicable
48 Lipid Regulating Agents Not Applicable
49 glucagon
50 Glucagon-Like Peptide 1

Interventional clinical trials:

(show all 22)

# 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 A Study of Nimotuzumab Combinated With Gemcitabine in K-RAS Wild-type Locally Advanced and Metastatic Pancreatic Cancer Unknown status NCT02395016 Phase 3 nimotuzumab;Gemcitabine
3 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita Unknown status NCT00936533 Phase 2 Dysport® (Botulinumtoxin A (Btx A));Placebo
4 An Open, Single-center Study to Determine the Antibody Repsonse to Gastrimmune and Its Safety and Tolerability in Patients With Advanced Pancreatic Carcinoma Completed NCT02098291 Phase 2 G17DT
5 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
6 Efficacy & Safety of ODSH (2-0, 3-0 Desulfated Heparin) in Patients With Metastatic Pancreatic Cancer Treated With Gemcitabine & Abraxane Completed NCT01461915 Phase 2 Abraxane ( Nab-paclitaxel);Abraxane ( Nab-paclitaxel);Gemcitabine;Gemcitabine;ODSH ( 2-O, 3-O Desulfated Heparin);ODSH ( 2-O, 3-O Desulfated Heparin);Abraxane ( nab-paclitaxel);Gemcitabine
7 uPAR-PET/MRI in Patients With Prostate Cancer for Evaluation of Tumor Aggressiveness Recruiting NCT03307460 Phase 2 68Ga-NOTA-AE105
8 uPAR PET/CT in Radium-223-dichloride Treatment of Patients With Metastatic Castration-resistant Prostate Cancer Recruiting NCT02964988 Phase 2 Injection of PET tracer 68Ga-NOTA-AE105
9 Pilot Pharmacokinetic Study of New Nicotine Lozenge Formulations Completed NCT01574898 Phase 1 V0474 - A mg;V0474 - B mg;V0474 - C mg;V0018 - B mg;Niquitin® Fresh Mint 4 mg
10 Polarized Reflectance Spectroscopy for Oral Lesions Completed NCT01604759 Phase 1
11 Study of TD101, a Small Interfering RNA (siRNA) Designed for Treatment of Pachyonychia Congenita Completed NCT00716014 Phase 1 TD101;Normal saline (placebo)
12 Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC) Completed NCT02152007 Phase 1 1% sirolimus cream (TD201 1%)
13 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Completed NCT02592954 Phase 1 Jojoba oil with broccoli sprout extract;Jojoba oil (placebo)
14 Simvastatin Treatment of Pachyonychia Congenita Unknown status NCT01382511 Not Applicable Simvastatine
15 Proclear 1-D Multifocal Nondispensing Study Completed NCT01526902
16 The Role of Small Intestinal Endocrine Cells in Type 2 Diabetic Hyperglucagonemia Completed NCT00639613
17 Different Training (Aerobic, Resistance or Mixed) Physical Programs Affect to Physiological Responses (TRAINING2014) Completed NCT02441192
18 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
19 ProstaCare Study for BPH Recruiting NCT02962674
20 International Pachyonychia Congenita Research Registry Recruiting NCT02321423
21 Harvest of CTCs From MBC Patients Using the Parsortix™ PC1 System Not yet recruiting NCT03427450
22 Assessing a Dose‐Response Relationship of Hydralazine and Its Effects on DNA Methyltransferase 1 in Polycystic Kidney Disease Patients Not yet recruiting NCT03423810 Early Phase 1 Hydralazine

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 28 KRT16
2 Pachyonychia Congenita Syndrome 28

Anatomical Context for Pachyonychia Congenita 1

MalaCards organs/tissues related to Pachyonychia Congenita 1:

38
Skin, Tongue, Prostate, Kidney, Small Intestine

Publications for Pachyonychia Congenita 1

Articles related to Pachyonychia Congenita 1:

(show top 50) (show all 244)
# Title Authors Year
1
A novel KRT6A mutation in a case of pachyonychia congenita from India. ( 27852996 )
2017
2
Early severe pachyonychia congenita subtype PC-K6a with a novel mutation in the KRT6A gene. ( 27445120 )
2016
3
Laryngeal manifestations of pachyonychia congenita: a clinical case and discussion on management for the otolaryngologist. ( 27762179 )
2016
4
Chronic Foot Pain due to Pachyonychia Congenita in a Pediatric Patient: A Successful Management Strategy. ( 27182712 )
2016
5
Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients. ( 27041546 )
2016
6
Pachyonychia Congenita: New Classification and Diagnosis. ( 27688452 )
2016
7
Peripheral neuropathic changes in pachyonychia congenita. ( 27776012 )
2016
8
Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes. ( 27183391 )
2016
9
Pachyonychia congenita with late onset (PC tarda). ( 27559502 )
2016
10
Pachyonychia Congenita Type 1: Case Report and Review of the Literature. ( 27057022 )
2016
11
Author's Reply: Pachyonychia Congenita Type 1: Case Report and Review of the Literature. ( 27904190 )
2016
12
Identification of a CAST Mutation in a Cohort Previously Misdiagnosed as Having Autosomal Recessive Pachyonychia Congenita. ( 26650665 )
2015
13
Efficacy of botulinum toxin in pachyonychia congenita type 1: report of two new cases. ( 26445325 )
2015
14
A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome? ( 25713981 )
2015
15
Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin. ( 26464567 )
2015
16
PCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita. ( 25775665 )
2015
17
Can skin disease cause neuropathic pain? A study in pachyonychia congenita. ( 26358843 )
2015
18
A novel H1 mutation in keratin 6a in an infant with pachyonychia congenita. ( 26087092 )
2015
19
Gene expression profiling in pachyonychia congenita skin. ( 25656049 )
2015
20
Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting. ( 24518109 )
2014
21
Mutations in GJB6 causing phenotype resembling pachyonychia congenita. ( 25385569 )
2014
22
Impaired wound healing and cheilitis in a Pachyonychia Congenita K6a family. ( 24708461 )
2014
23
Absence of filaggrin mutation in a patient affected by pachyonychia congenita and mild atopic dermatitis. ( 25514680 )
2014
24
Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17. ( 24842198 )
2014
25
The molecular genetic analysis of the expanding pachyonychia congenita case collection. ( 24611874 )
2014
26
A case with pachyonychia congenita and B-cell lymphoma. ( 25135271 )
2014
27
Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia Congenita Consortium Meeting. ( 25124823 )
2014
28
First case of pachyonychia congenita in the Czech Republic. ( 25174302 )
2014
29
Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b. ( 24354895 )
2014
30
Pachyonychia congenita in Japan: report of familial cases with a recurrent KRT16 mutation. ( 24491404 )
2014
31
Best treatment practices for pachyonychia congenita. ( 23363249 )
2013
32
A new KRT16 mutation associated with a phenotype of pachyonychia congenita. ( 24118415 )
2013
33
Pachyonychia congenita with involvement of the larynx. ( 23317559 )
2013
34
Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2. ( 23855588 )
2013
35
Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita. ( 23374899 )
2013
36
Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma. ( 23927070 )
2013
37
Pachyonychia congenita: A rare genodermatosis. ( 23984242 )
2013
38
Pachyonychia Congenita in Pediatric Patients: Natural History, Features, and Impact. ( 24132595 )
2013
39
Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family. ( 24357266 )
2013
40
Pachyonychia congenita with corneal dystrophy. ( 23772998 )
2013
41
A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2. ( 23278621 )
2013
42
Pachyonychia congenita type 2: an unusual presentation. ( 23249838 )
2013
43
Pachyonychia congenita type 2 (Jackson-Lawler syndrome) or PC-17: case report. ( 23683487 )
2013
44
Pachyonychia congenita tarda: A rare case report. ( 24124319 )
2013
45
Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders. ( 22336941 )
2012
46
Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation. ( 21790523 )
2012
47
Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma. ( 22668561 )
2012
48
Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita. ( 22336949 )
2012
49
Pachyonychia congenita-associated alopecia. ( 23056978 )
2012
50
A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. ( 22264670 )
2012

Variations for Pachyonychia Congenita 1

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

71 (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

ClinVar genetic disease variations for Pachyonychia Congenita 1:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT16 NM_005557.3(KRT16): c.395T> C (p.Leu132Pro) single nucleotide variant Pathogenic rs60944949 GRCh37 Chromosome 17, 39768546: 39768546
2 KRT16 NM_005557.3(KRT16): c.374A> G (p.Asn125Ser) single nucleotide variant Pathogenic rs60723330 GRCh37 Chromosome 17, 39768567: 39768567
3 KRT16 NM_005557.3(KRT16): c.389_391delCCT (p.Ser130del) deletion Pathogenic rs58181827 GRCh37 Chromosome 17, 39768550: 39768552
4 KRT16 NM_005557.3(KRT16): c.380G> C (p.Arg127Pro) single nucleotide variant Pathogenic rs57424749 GRCh37 Chromosome 17, 39768561: 39768561
5 KRT16 NM_005557.3(KRT16): c.365A> C (p.Gln122Pro) single nucleotide variant Pathogenic rs59349773 GRCh37 Chromosome 17, 39768576: 39768576
6 KRT16 NM_005557.3(KRT16): c.371T> G (p.Leu124Arg) single nucleotide variant Pathogenic rs58293603 GRCh37 Chromosome 17, 39768570: 39768570
7 KRT16 NM_005557.3(KRT16): c.1062A> T (p.Lys354Asn) single nucleotide variant Pathogenic/Likely pathogenic rs59328451 GRCh37 Chromosome 17, 39766801: 39766801
8 KRT16 NM_005557.3(KRT16): c.362T> C (p.Met121Thr) single nucleotide variant Pathogenic rs28928894 GRCh37 Chromosome 17, 39768579: 39768579
9 KRT16 NM_005557.3(KRT16): c.383T> A (p.Leu128Gln) single nucleotide variant Pathogenic rs28928895 GRCh37 Chromosome 17, 39768558: 39768558
10 KRT16 NM_005557.3(KRT16): c.373A> G (p.Asn125Asp) single nucleotide variant Pathogenic rs58608173 GRCh37 Chromosome 17, 39768568: 39768568
11 KRT16 NM_005557.3(KRT16): c.373_374delAAinsGG (p.Asn125Gly) indel Pathogenic rs587777717 GRCh38 Chromosome 17, 41612315: 41612316
12 KRT16 NM_005557.3(KRT16): c.365A> G (p.Gln122Arg) single nucleotide variant Likely pathogenic rs59349773 GRCh37 Chromosome 17, 39768576: 39768576

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 FLG KRT10 KRT16 KRT17 KRT2 KRT6A
2 12.05 KRT10 KRT17 KRT6A KRT6B
3
Show member pathways
11.78 FLG KRT10 KRT16 KRT17 KRT2 KRT6A
4
Show member pathways
11.49 KRT16 KRT17 KRT2 KRT6A

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 extracellular exosome GO:0070062 9.91 KRT10 KRT16 KRT17 KRT2 KRT6A KRT6B
2 cytosol GO:0005829 9.9 FLG GJB6 KRT10 KRT16 KRT17 KRT2
3 cornified envelope GO:0001533 9.5 FLG KRT10 KRT2
4 keratin filament GO:0045095 9.35 KRT2 KRT6A KRT6B KRT74 KRT75
5 intermediate filament GO:0005882 9.32 FLG KRT10 KRT16 KRT17 KRT2 KRT6A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.67 KRT16 KRT6A KRT6B
2 cornification GO:0070268 9.65 FLG KRT10 KRT16 KRT17 KRT2 KRT6A
3 epidermis development GO:0008544 9.62 KRT16 KRT17 KRT2 KRT9
4 keratinocyte differentiation GO:0030216 9.61 FLG KRT10 KRT16
5 peptide cross-linking GO:0018149 9.54 FLG KRT10 KRT2
6 establishment of skin barrier GO:0061436 9.48 FLG KRT16
7 morphogenesis of an epithelium GO:0002009 9.46 KRT16 KRT6A
8 intermediate filament cytoskeleton organization GO:0045104 9.43 KRT16 KRT6A KRT74
9 keratinocyte migration GO:0051546 9.4 KRT16 KRT2
10 intermediate filament organization GO:0045109 9.33 KRT17 KRT2 KRT9
11 keratinization GO:0031424 9.28 KRT10 KRT16 KRT17 KRT2 KRT6A KRT6B

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 9.43 KRT16 KRT17 KRT2 KRT6A KRT6B KRT9
2 structural constituent of epidermis GO:0030280 9.33 FLG KRT10 KRT2
3 structural molecule activity GO:0005198 9.23 FLG KRT10 KRT16 KRT17 KRT2 KRT6A

Sources for Pachyonychia Congenita 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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41 MeSH
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50 NINDS
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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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