PC1
MCID: PCH015
MIFTS: 57

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 57 75 29 6
Pachyonychia Congenita 12 24 53 25 59 37 44 15 73
Pachyonychia Congenita Syndrome 53 25 29
Pachyonychia Congenita, Jadassohn-Lewandowsky Type 12 13
Jadassohn-Lewandowsky Syndrome 12 75
Pachyonychia Congenita, Type 1 55 40
Congenital Pachyonychia 53 25
Pc1 57 75
Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly 57
Pachyonychia Congenita, Jadassohn Lewandowsky Type 73
Pachyonychia Congenita Jadassohn-Lewandowsky Type 75
Jackson-Lawler Type Pachyonychia Congenita 12
Pachyonychia Congenita Jacksonlawler Type 76
Jadassohn-Lewandowsky Syndrome, Formerly 57
Jadassohn-Lewandowski Syndrome 25
Pachyonychia Congenita, Type 2 73
Pachyonychia Congenita Type 1 12
Jadassohnlewandowsky Syndrome 76
Jackson-Lawler Syndrome 25
Pc 59

Characteristics:

Orphanet epidemiological data:

59
pachyonychia congenita
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

32
pachyonychia congenita 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Pachyonychia Congenita 1

NIH Rare Diseases : 53 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.

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 Developmental Biology and Circadian entrainment. The drugs Ketorolac and Tramadol have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and b cells, and related phenotypes are hyperhidrosis and respiratory insufficiency

Disease Ontology : 12 An autosomal dominant disease 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.

Genetics Home Reference : 25 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.

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). (167200)

UniProtKB/Swiss-Prot : 75 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 : 76 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 70)
# Related Disease Score Top Affiliating Genes
1 pachyonychia congenita 2 34.5 KRT6B KRT17
2 steatocystoma multiplex 32.6 KRT17 KRT16 KRT10
3 palmoplantar keratosis 30.6 KRT9 KRT16
4 fissured tongue 30.4 KRT6A KRT16
5 epidermoid cysts 30.3 KRT6A KRT17
6 glossitis 30.3 KRT6B KRT6A KRT17
7 median rhomboid glossitis 30.1 KRT6B KRT6A KRT17 KRT16
8 white sponge nevus 1 29.6 KRT74 KRT6B KRT6A KRT2 KRT16 KRT10
9 skin disease 29.2 KRT9 KRT6A KRT17 KRT16 KRT10 GJB6
10 pachyonychia congenita 4 12.7
11 pachyonychia congenita, autosomal recessive 12.2
12 proprotein convertase 1/3 deficiency 11.1
13 acroosteolysis 10.3
14 alopecia 10.3
15 pachyonychia congenita 3 10.2
16 hidradenitis suppurativa 10.2
17 hidradenitis 10.2
18 tinea corporis 10.2 KRT17 KRT16
19 acanthoma 10.2 KRT17 KRT10
20 basal cell carcinoma, infundibulocystic 10.2 KRT17 KRT10
21 large cell acanthoma 10.2 KRT17 KRT10
22 squamous cell carcinoma of the oral tongue 10.2 KRT16 KRT10
23 ichthyosis bullosa of siemens 10.1 KRT2 KRT10
24 pinguecula 10.1 KRT16 KRT10
25 eccrine sweat gland neoplasm 10.1 KRT17 KRT10
26 prader-willi syndrome 10.1
27 bowen's disease 10.1 KRT17 KRT16 KRT10
28 keratosis, seborrheic 10.1 KRT17 KRT10
29 primary cutaneous amyloidosis 10.1 KRT17 KRT16 KRT10
30 basal cell carcinoma 10.1 KRT17 KRT16 KRT10
31 dyskeratosis, hereditary benign intraepithelial 10.1
32 clouston syndrome 10.1
33 nail disorder, nonsyndromic congenital, 1 10.1
34 dermatitis, atopic 10.1
35 patent ductus arteriosus 1 10.1
36 ewing sarcoma 10.1
37 b-cell lymphomas 10.1
38 lymphoma 10.1
39 sarcoma 10.1
40 tuberous sclerosis 10.1
41 candidiasis 10.1
42 cheilitis 10.1
43 corneal dystrophy 10.1
44 dermatitis 10.1
45 epidermolysis bullosa 10.1
46 epidermolysis bullosa simplex 10.1
47 amyloidosis 10.1
48 leukoplakia 10.1
49 oral leukoplakia 10.1
50 woolly hair syndrome 10.1

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:

57
Skin Nails Hair Skin:
follicular hyperkeratosis
palmoplantar hyperkeratosis

Skin Nails Hair Nails:
onychogryposis

Head And Neck Mouth:
oral leukokeratosis


Clinical features from OMIM:

167200

Human phenotypes related to Pachyonychia Congenita 1:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
2 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
3 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
4 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
5 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
6 ichthyosis 59 32 frequent (33%) Frequent (79-30%) HP:0008064
7 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
8 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
9 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
10 nail dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008404
11 abnormal blistering of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008066
12 corneal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001131
13 abnormality of the fingernails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001231
14 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
15 anonychia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001798
16 oral leukoplakia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002745
17 skin plaque 59 32 frequent (33%) Frequent (79-30%) HP:0200035
18 abnormality of nail color 59 32 hallmark (90%) Very frequent (99-80%) HP:0100643
19 thick nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001805
20 abnormality of the dentition 59 Frequent (79-30%)
21 abnormality of the nail 59 Very frequent (99-80%)
22 abnormality of the hair 59 Very frequent (99-80%)
23 follicular hyperkeratosis 32 HP:0007502
24 palmoplantar hyperkeratosis 32 HP:0000972
25 epidermal cyst 59 Frequent (79-30%)
26 epidermoid cyst 32 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 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
2
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
3
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
4
Ibuprofen Approved Phase 4 15687-27-1 3672
5
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
6
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
7
Acetaminophen Approved Phase 4 103-90-2 1983
8 Anti-Infective Agents Phase 4,Phase 3,Phase 2
9 Neurotransmitter Agents Phase 4,Phase 1
10 Benzalkonium Compounds Phase 4
11 Contraceptive Agents Phase 4
12 Spermatocidal Agents Phase 4
13 Anti-Infective Agents, Local Phase 4
14 GABA Modulators Phase 4
15 Tranquilizing Agents Phase 4
16 Central Nervous System Depressants Phase 4
17 Psychotropic Drugs Phase 4
18 Adjuvants, Anesthesia Phase 4
19 Pharmaceutical Solutions Phase 4
20 Anesthetics, General Phase 4
21 Anesthetics, Intravenous Phase 4
22 Anesthetics Phase 4
23 Anti-Anxiety Agents Phase 4
24 GABA Agents Phase 4
25 Hypnotics and Sedatives Phase 4
26
Gemcitabine Approved Phase 3,Phase 2 95058-81-4 60750
27
Fludarabine Approved Phase 2, Phase 3,Phase 3 75607-67-9, 21679-14-1 30751
28
Decitabine Approved, Investigational Phase 2, Phase 3 2353-33-5 451668
29
Azacitidine Approved, Investigational Phase 2, Phase 3 320-67-2 9444
30
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
31
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
32
Cytarabine Approved, Investigational Phase 2, Phase 3 147-94-4 6253
33
Idarubicin Approved Phase 2, Phase 3 58957-92-9 42890
34 Immunologic Factors Phase 3,Phase 2
35 Antiviral Agents Phase 3,Phase 2
36 Immunosuppressive Agents Phase 3,Phase 2
37 Antimetabolites Phase 3,Phase 2,Not Applicable
38 Antimetabolites, Antineoplastic Phase 3,Phase 2
39 Gemtuzumab Phase 2, Phase 3
40
Everolimus Approved Phase 2 159351-69-6 6442177
41
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
42
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
43
Heparin Approved, Investigational Phase 2 9005-49-6 772 46507594
44
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
45
Radium Ra 223 dichloride Approved, Investigational Phase 2 444811-40-9
46 Antibodies Phase 2
47 Immunoglobulins Phase 2
48 Antibiotics, Antitubercular Phase 2
49 Antifungal Agents Phase 2
50 Antihypertensive Agents Phase 2,Not Applicable,Early Phase 1

Interventional clinical trials:

(show all 21)
# 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 Contraceptive Efficacy, Tolerance and Acceptability of a Benzalkonium Chloride Spermicide Cream In Women Aged Over 40 Years of Age Active, not recruiting NCT03102450 Phase 4 Benzalkonium Chloride Spermicide Cream
3 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
4 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
5 Trial to Test the Effects of Adding 1 of 2 New Treatment Agents to Commonly Used Chemotherapy Combinations Recruiting NCT02272478 Phase 2, Phase 3 Arm A Mylotarg plus DA Versus CPX-351;Arm B Vosaroxin and Decitabine;Arm D Small molecule or Not;Arm C DA V FLAG-Ida V DAC;Arm E CPX-351 (200 V 300);Arm F DA V IDAC
6 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
7 Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety Completed NCT00491517 Phase 2 Sirolimus;conventional therapy
8 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
9 uPAR-PET/MRI in Patients With Prostate Cancer for Evaluation of Tumor Aggressiveness Recruiting NCT03307460 Phase 2 68Ga-NOTA-AE105
10 uPAR PET/CT in Radium-223-dichloride Treatment of Patients With Metastatic Castration-resistant Prostate Cancer Suspended NCT02964988 Phase 2 Injection of PET tracer 68Ga-NOTA-AE105
11 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
12 Polarized Reflectance Spectroscopy for Oral Lesions Completed NCT01604759 Phase 1
13 Proclear 1-D Multifocal Nondispensing Study Completed NCT01526902 Not Applicable
14 The Role of Small Intestinal Endocrine Cells in Type 2 Diabetic Hyperglucagonemia Completed NCT00639613
15 Different Training (Aerobic, Resistance or Mixed) Physical Programs Affect to Physiological Responses (TRAINING2014) Completed NCT02441192 Not Applicable
16 Harvest of CTCs From MBC Patients Using the Parsortix™ PC1 System Recruiting NCT03427450
17 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
18 Acoustic Structures Crying of Infants From 1 to 4 Months and Their Signification Recruiting NCT03716882
19 Assessing a Dose‐Response Relationship of Hydralazine and Its Effects on DNA Methyltransferase 1 in Polycystic Kidney Disease Patients Recruiting NCT03423810 Early Phase 1 Hydralazine
20 Pulsed Current Versus Russian Current Effects in Healthy Young Subjects. Recruiting NCT03796117 Not Applicable
21 To Evaluate the Safety and Performance of the ProstaCare Water Electrolysis System in Relieving Symptoms of BPH. Active, not recruiting NCT02962674 Not Applicable

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:

41
Skin, Tongue, B Cells

Publications for Pachyonychia Congenita 1

Articles related to Pachyonychia Congenita 1:

(show top 50) (show all 273)
# Title Authors Year
1
Identification of a novel substitution mutation (R103C) in the rod domain of the keratin 17 gene associated with pachyonychia congenita type 2. ( 29904921 )
2018
2
Enamel Anomalies in a Pachyonychia Congenita Patient with a Mutation in KRT16. ( 30009827 )
2018
3
Plantar pain in pachyonychia congenita. ( 30156287 )
2018
4
Nociceptin/orphanin FQ opioid peptide-receptor expression in pachyonychia congenita. ( 30255608 )
2018
5
Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation. ( 30307612 )
2018
6
Chronic pain in pachyonychia congenita: evidence for neuropathic origin. ( 29210461 )
2018
7
Sexual Dimorphism in Response to an NRF2 Inducer in a Model for Pachyonychia Congenita. ( 29277538 )
2018
8
Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay. ( 29357356 )
2018
9
Sex Matters: Interfering with the Oxidative Stress Response in Pachyonychia Congenita. ( 29681388 )
2018
10
Novel treatment of painful plantar keratoderma in pachyonychia congenita using topical sirolimus. ( 29882237 )
2018
11
A novel KRT6A mutation in a case of pachyonychia congenita from India. ( 27852996 )
2017
12
Report of the 13th Annual International Pachyonychia Congenita Consortium Symposium. ( 28345191 )
2017
13
Nail removal in pachyonychia congenita: Patient-reported survey outcomes. ( 28411774 )
2017
14
Pachyonychia Congenita in a Toddler. ( 28607853 )
2017
15
Proteomic profiling of Pachyonychia congenita plantar callus. ( 28648685 )
2017
16
Pachyonychia Congenita: Brief Appraisal of History and Current Classification. ( 28761853 )
2017
17
Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita. ( 28794556 )
2017
18
Keratin 6b variant p.Gly499Ser reported in delayed-onset pachyonychia congenita is a non-pathogenic polymorphism. ( 28815691 )
2017
19
Management of Plantar KeratodermasLessons from Pachyonychia Congenita. ( 29077501 )
2017
20
First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population. ( 29090033 )
2017
21
Laryngeal manifestations of pachyonychia congenita: a clinical case and discussion on management for the otolaryngologist. ( 27762179 )
2016
22
Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes. ( 27183391 )
2016
23
Pachyonychia Congenita: New Classification and Diagnosis. ( 27688452 )
2016
24
Early severe pachyonychia congenita subtype PC-K6a with a novel mutation in the KRT6A gene. ( 27445120 )
2016
25
Pachyonychia Congenita Type 1: Case Report and Review of the Literature. ( 27057022 )
2016
26
Peripheral neuropathic changes in pachyonychia congenita. ( 27776012 )
2016
27
Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients. ( 27041546 )
2016
28
Pachyonychia congenita with late onset (PC tarda). ( 27559502 )
2016
29
Author's Reply: Pachyonychia Congenita Type 1: Case Report and Review of the Literature. ( 27904190 )
2016
30
Chronic Foot Pain due to Pachyonychia Congenita in a Pediatric Patient: A Successful Management Strategy. ( 27182712 )
2016
31
A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome? ( 25713981 )
2015
32
Gene expression profiling in pachyonychia congenita skin. ( 25656049 )
2015
33
Efficacy of botulinum toxin in pachyonychia congenita type 1: report of two new cases. ( 26445325 )
2015
34
Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin. ( 26464567 )
2015
35
Focal PPK secondary to a novel KRT6C mutation (Pachyonychia congenita-K6c). ( 26301947 )
2015
36
Can skin disease cause neuropathic pain? A study in pachyonychia congenita. ( 26358843 )
2015
37
PCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita. ( 25775665 )
2015
38
Identification of a CAST Mutation in a Cohort Previously Misdiagnosed as Having Autosomal Recessive Pachyonychia Congenita. ( 26650665 )
2015
39
A novel H1 mutation in keratin 6a in an infant with pachyonychia congenita. ( 26087092 )
2015
40
Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b. ( 24354895 )
2014
41
The molecular genetic analysis of the expanding pachyonychia congenita case collection. ( 24611874 )
2014
42
Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting. ( 24518109 )
2014
43
Impaired wound healing and cheilitis in a Pachyonychia Congenita K6a family. ( 24708461 )
2014
44
Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia Congenita Consortium Meeting. ( 25124823 )
2014
45
First case of pachyonychia congenita in the Czech Republic. ( 25174302 )
2014
46
Pachyonychia congenita in Japan: report of familial cases with a recurrent KRT16 mutation. ( 24491404 )
2014
47
Mutations in GJB6 causing phenotype resembling pachyonychia congenita. ( 25385569 )
2014
48
Absence of filaggrin mutation in a patient affected by pachyonychia congenita and mild atopic dermatitis. ( 25514680 )
2014
49
Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17. ( 24842198 )
2014
50
A case with pachyonychia congenita and B-cell lymphoma. ( 25135271 )
2014

Variations for Pachyonychia Congenita 1

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

75 (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 26)
# 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.395T> C (p.Leu132Pro) single nucleotide variant Pathogenic rs60944949 GRCh38 Chromosome 17, 41612294: 41612294
3 KRT16 NM_005557.3(KRT16): c.379C> T (p.Arg127Cys) single nucleotide variant Pathogenic rs59856285 GRCh37 Chromosome 17, 39768562: 39768562
4 KRT16 NM_005557.3(KRT16): c.379C> T (p.Arg127Cys) single nucleotide variant Pathogenic rs59856285 GRCh38 Chromosome 17, 41612310: 41612310
5 KRT16 NM_005557.3(KRT16): c.374A> G (p.Asn125Ser) single nucleotide variant Pathogenic rs60723330 GRCh37 Chromosome 17, 39768567: 39768567
6 KRT16 NM_005557.3(KRT16): c.374A> G (p.Asn125Ser) single nucleotide variant Pathogenic rs60723330 GRCh38 Chromosome 17, 41612315: 41612315
7 KRT16 NM_005557.3(KRT16): c.389_391delCCT (p.Ser130del) deletion Pathogenic rs58181827 GRCh37 Chromosome 17, 39768550: 39768552
8 KRT16 NM_005557.3(KRT16): c.389_391delCCT (p.Ser130del) deletion Pathogenic rs58181827 GRCh38 Chromosome 17, 41612298: 41612300
9 KRT16 NM_005557.3(KRT16): c.380G> C (p.Arg127Pro) single nucleotide variant Pathogenic rs57424749 GRCh37 Chromosome 17, 39768561: 39768561
10 KRT16 NM_005557.3(KRT16): c.380G> C (p.Arg127Pro) single nucleotide variant Pathogenic rs57424749 GRCh38 Chromosome 17, 41612309: 41612309
11 KRT16 NM_005557.3(KRT16): c.365A> C (p.Gln122Pro) single nucleotide variant Pathogenic rs59349773 GRCh37 Chromosome 17, 39768576: 39768576
12 KRT16 NM_005557.3(KRT16): c.365A> C (p.Gln122Pro) single nucleotide variant Pathogenic rs59349773 GRCh38 Chromosome 17, 41612324: 41612324
13 KRT16 NM_005557.3(KRT16): c.371T> G (p.Leu124Arg) single nucleotide variant Pathogenic rs58293603 GRCh37 Chromosome 17, 39768570: 39768570
14 KRT16 NM_005557.3(KRT16): c.371T> G (p.Leu124Arg) single nucleotide variant Pathogenic rs58293603 GRCh38 Chromosome 17, 41612318: 41612318
15 KRT16 NM_005557.3(KRT16): c.1062A> T (p.Lys354Asn) single nucleotide variant Likely pathogenic rs59328451 GRCh37 Chromosome 17, 39766801: 39766801
16 KRT16 NM_005557.3(KRT16): c.1062A> T (p.Lys354Asn) single nucleotide variant Likely pathogenic rs59328451 GRCh38 Chromosome 17, 41610549: 41610549
17 KRT16 NM_005557.3(KRT16): c.362T> C (p.Met121Thr) single nucleotide variant Pathogenic rs28928894 GRCh37 Chromosome 17, 39768579: 39768579
18 KRT16 NM_005557.3(KRT16): c.362T> C (p.Met121Thr) single nucleotide variant Pathogenic rs28928894 GRCh38 Chromosome 17, 41612327: 41612327
19 KRT16 NM_005557.3(KRT16): c.383T> A (p.Leu128Gln) single nucleotide variant Pathogenic rs28928895 GRCh37 Chromosome 17, 39768558: 39768558
20 KRT16 NM_005557.3(KRT16): c.383T> A (p.Leu128Gln) single nucleotide variant Pathogenic rs28928895 GRCh38 Chromosome 17, 41612306: 41612306
21 KRT16 NM_005557.3(KRT16): c.373A> G (p.Asn125Asp) single nucleotide variant Pathogenic rs58608173 GRCh37 Chromosome 17, 39768568: 39768568
22 KRT16 NM_005557.3(KRT16): c.373A> G (p.Asn125Asp) single nucleotide variant Pathogenic rs58608173 GRCh38 Chromosome 17, 41612316: 41612316
23 KRT16 NM_005557.3(KRT16): c.373_374delAAinsGG (p.Asn125Gly) indel Pathogenic rs587777717 GRCh38 Chromosome 17, 41612315: 41612316
24 KRT16 NM_005557.3(KRT16): c.373_374delAAinsGG (p.Asn125Gly) indel Pathogenic rs587777717 GRCh37 Chromosome 17, 39768567: 39768568
25 KRT16 NM_005557.3(KRT16): c.365A> G (p.Gln122Arg) single nucleotide variant Likely pathogenic rs59349773 GRCh37 Chromosome 17, 39768576: 39768576
26 KRT16 NM_005557.3(KRT16): c.365A> G (p.Gln122Arg) single nucleotide variant Likely pathogenic rs59349773 GRCh38 Chromosome 17, 41612324: 41612324

Expression for Pachyonychia Congenita 1

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

Pathways for Pachyonychia Congenita 1

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 9.81 KRT10 KRT16 KRT17 KRT2 KRT6A KRT6B
2 cornified envelope GO:0001533 9.5 FLG KRT10 KRT2
3 keratin filament GO:0045095 9.35 KRT2 KRT6A KRT6B KRT74 KRT75
4 intermediate filament GO:0005882 9.32 FLG KRT10 KRT16 KRT17 KRT2 KRT6A
5 cytosol GO:0005829 10 FLG GJB6 KRT10 KRT16 KRT17 KRT2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.65 FLG KRT10 KRT16 KRT17 KRT2 KRT6A
2 keratinocyte differentiation GO:0030216 9.63 FLG KRT10 KRT16
3 cytoskeleton organization GO:0007010 9.62 KRT16 KRT17 KRT6A KRT6B
4 peptide cross-linking GO:0018149 9.58 FLG KRT10 KRT2
5 epidermis development GO:0008544 9.56 KRT16 KRT17 KRT2 KRT9
6 intermediate filament cytoskeleton organization GO:0045104 9.51 KRT16 KRT74
7 morphogenesis of an epithelium GO:0002009 9.49 KRT16 KRT6A
8 establishment of skin barrier GO:0061436 9.48 FLG KRT16
9 keratinocyte migration GO:0051546 9.43 KRT16 KRT2
10 positive regulation of epidermis development GO:0045684 9.37 KRT10 KRT2
11 intermediate filament organization GO:0045109 9.33 KRT17 KRT2 KRT9
12 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

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17 ExPASy
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69 SNOMED-CT via HPO
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