Pachyonychia Congenita 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PC3 MCID: PCH010 MIFTS: 43	Pachyonychia Congenita 3 (PC3) Categories: Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Pachyonychia Congenita 3

MalaCards integrated aliases for Pachyonychia Congenita 3:

Name: Pachyonychia Congenita 3 ⁵⁷ ⁷³ ²⁹ ⁶ ⁷¹

Pc3 ⁵⁷ ⁷³

Pachyonychia Congenita, Type 3 ³⁹

Pc-3 ¹⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

HPO:

³¹

pachyonychia congenita 3:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Skin diseases Oral diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 615726

OMIM Phenotypic Series ⁵⁷ PS167200

MeSH ⁴⁴ D053549

MedGen ⁴¹ C3714948 CN185878

EFO ¹⁷ EFO_0002074

UMLS ⁷¹ C3714948

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Summaries for Pachyonychia Congenita 3

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). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. (615726) (Updated 05-Mar-2021)

MalaCards based summary : Pachyonychia Congenita 3, also known as pc3, is related to prostate cancer and suppression of tumorigenicity 12. An important gene associated with Pachyonychia Congenita 3 is KRT6A (Keratin 6A). The drugs Remifentanil and Narcotics have been mentioned in the context of this disorder. Affiliated tissues include prostate, bone and breast, and related phenotypes are hyperhidrosis and palmoplantar keratoderma

UniProtKB/Swiss-Prot : ⁷³ Pachyonychia congenita 3: An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts.

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Related Diseases for Pachyonychia Congenita 3

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

(show top 50) (show all 101)

#	Related Disease	Score
1	prostate cancer	10.8
2	suppression of tumorigenicity 12	10.2
3	48,xyyy	10.2
4	insulin-like growth factor i	10.2
5	retinoblastoma	10.2
6	hypoxia	10.2
7	bone resorption disease	10.1
8	pheochromocytoma	10.1
9	pertussis	10.1
10	insulinoma	10.1
11	severe combined immunodeficiency	10.1
12	prostatic hyperplasia, benign	10.1
13	adrenal gland pheochromocytoma	10.1
14	prostatic hypertrophy	10.1
15	prostatic adenoma	10.1
16	osteogenic sarcoma	10.0
17	combined immunodeficiency	10.0
18	glioblastoma	10.0
19	fibrosarcoma	10.0
20	rapidly involuting congenital hemangioma	10.0
21	vaccinia	10.0
22	skin disease	10.0
23	pituitary tumors	10.0
24	hypertriglyceridemia, familial	9.9
25	multicentric carpotarsal osteolysis syndrome	9.9
26	triiodothyronine receptor auxiliary protein	9.9
27	medulloblastoma	9.9
28	prostate cancer, hereditary, 3	9.9
29	familial adenomatous polyposis	9.9
30	small cell carcinoma	9.9
31	prostatitis	9.9
32	cholera	9.9
33	pituitary adenoma	9.9
34	type 2 diabetes mellitus	9.8
35	glioma susceptibility 1	9.8
36	ovarian cancer	9.8
37	lung cancer	9.8
38	wiskott-aldrich syndrome	9.8
39	creatinine clearance quantitative trait locus	9.8
40	leukemia, acute lymphoblastic	9.8
41	colorectal adenocarcinoma	9.8
42	lymphoma	9.8
43	bone disease	9.8
44	microcephaly	9.8
45	neutropenia	9.8
46	dysentery	9.8
47	urethritis	9.8
48	cystitis	9.8
49	hyperinsulinism	9.8
50	iron metabolism disease	9.8

Graphical network of the top 20 diseases related to Pachyonychia Congenita 3:

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Symptoms & Phenotypes for Pachyonychia Congenita 3

Human phenotypes related to Pachyonychia Congenita 3:

³¹ (show all 11)

#	Description	HPO Source Accession
1	hyperhidrosis ³¹	HP:0000975
2	palmoplantar keratoderma ³¹	HP:0000982
3	gingivitis ³¹	HP:0000230
4	furrowed tongue ³¹	HP:0000221
5	oral leukoplakia ³¹	HP:0002745
6	nail dystrophy ³¹	HP:0008404
7	plantar hyperkeratosis ³¹	HP:0007556
8	onychogryposis of toenails ³¹	HP:0008401
9	epidermoid cyst ³¹	HP:0200040
10	palmar hyperkeratosis ³¹	HP:0010765
11	chapped lip ³¹	HP:0040181

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Skin Nails Hair Skin:
palmoplantar keratoderma
follicular hyperkeratosis
pilosebaceous cysts
steatocystoma

Skin Nails Hair Nails:
pachyonychia

Head And Neck Eyes:
conjunctival hyperkeratosis (rare)

Skeletal Feet:
plantar keratoderma
plantar fissures
plantar pain

Voice:
hoarse voice

Head And Neck Mouth:
fissured tongue
oral leukokeratosis
dry, chapped lips
tongue leukokeratosis

Skeletal Hands:
palmar keratoderma

Clinical features from OMIM®:

615726 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Pachyonychia Congenita 3

Drugs for Pachyonychia Congenita 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Remifentanil

Approved

Phase 4

132875-61-7

60815

Synonyms:

132539-07-2 (mono-hydrochloride)

132875-61-7

1-Piperidinepropanoic acid, 4-(methoxy-carbonyl)-4-((1-oxopropyl)phenylamino)-, methyl ester

3-(4-methoxycarbonyl-4-((1-oxopropyl)phenylamino)-1-piperidine)propanoic acid methyl ester

3-(4-Methoxycarbonyl-4-((1-oxopropyl)phenylamino)-1-piperidine)propanoic acid methyl ester

4-carboxy-4-(n-phenylpropionamido)-1-piperidinepropionic acid dimethyl ester

AC1L1TZ8

AC1Q5ZGR

BIDD:GT0029

C08021

CHEBI:8802

CHEMBL1005

CID60815

D08473

DB00899

DEA No. 9739

GI 87084B

GI 87084X

GI87084B

L001266

LS-115982

methyl 1-(3-methoxy-3-oxopropyl)-4-(N-propanoylanilino)piperidine-4-carboxylate

MolPort-004-286-006

Remifentanil

REMIFENTANIL

Remifentanil (INN)

Remifentanil [INN:BAN]

Remifentanil hydrochloride

Remifentanil monohydrochloride

Remifentanilo

Remifentanyl

Ultiva

Ultiva (TN)

UNII-P10582JYYK

Narcotics

Phase 4

Anesthetics

Phase 4

Analgesics, Opioid

Phase 4

Analgesics

Phase 4

Liver Extracts

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Effect of Two Plasma Concentrations of Remifentanil Through Target Controlled Anesthesia on Frequency and Intensity of Coughing During Extubation: Randomized Controlled Clinical Trial	Completed	NCT02711904	Phase 4	Extubation U;Extubation T
2	Effect and Mechanism of Acupuncture on Patients With Functional Dyspepsia: a Protocol for a Randomized, Assessor-blind, Sham-controlled Trial	Unknown status	NCT02358486

Search NIH Clinical Center for Pachyonychia Congenita 3

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Genetic Tests for Pachyonychia Congenita 3

Genetic tests related to Pachyonychia Congenita 3:

#	Genetic test	Affiliating Genes
1	Pachyonychia Congenita 3 ²⁹	KRT6A

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Anatomical Context for Pachyonychia Congenita 3

MalaCards organs/tissues related to Pachyonychia Congenita 3:

⁴⁰

Prostate, Bone, Breast, Endothelial, Colon, Bone Marrow, Tongue

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Publications for Pachyonychia Congenita 3

Articles related to Pachyonychia Congenita 3:

(show top 50) (show all 7550)

#	Title	Authors	PMID	Year
1	The molecular genetic analysis of the expanding pachyonychia congenita case collection. ⁵⁷ ⁶	Wilson NJ...Smith FJ	24611874	2014
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 ⁵⁷	Du ZF...Zhang XN	22668561	2012
3	The genetic basis of pachyonychia congenita. ⁵⁷ ⁶	Smith FJ...McLean WH	16250206	2005
4	Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. ⁶ ⁵⁷	Terrinoni A...McLean WH	11886499	2001
5	Mutation of a type II keratin gene (K6a) in pachyonychia congenita. ⁶ ⁵⁷	Bowden PE...Turner RJ	7545493	1995
6	Revisiting pachyonychia congenita: a case-cohort study of 815 patients. ⁵⁷	Samuelov L...Sprecher E	31823354	2020
7	Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children. ⁵⁷	Goldberg I...Hansen CD	31777952	2020
8	Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation. ⁵⁷	Abdollahimajd F...Uitto J	30307612	2019
9	Pachyonychia congenita in pediatric patients: natural history, features, and impact. ⁵⁷	Shah S...Paller AS	24132595	2014
10	A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. ⁵⁷	Eliason MJ...Hansen CD	22264670	2012
11	Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16. ⁵⁷	Spaunhurst KM...Tang JY	22098151	2012
12	The phenotypic and molecular genetic features of pachyonychia congenita. ⁵⁷	McLean WH...Smith FJ	21430705	2011
13	A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. ⁵⁷	Smith FJ...McLean WH	9618173	1998
14	A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. ⁶	Rugg EL...Munro CS	7493030	1995
15	Puerarin induces apoptosis in prostate cancer cells via inactivation of the Keap1/Nrf2/ARE signaling pathway. ⁶¹	Li J...Zhang R	33356808	2021
16	Simultaneous quantification of the lipids phosphatidylcholine, 3-sn-phosphatidylethanolamine, sphingomyelin, and L-α-lysophosphatidylcholine extracted from the tissues of the invasive golden apple snail (Pomacea canaliculata) using UHPLC-ESI-MS/MS. ⁶¹	Wang J...Xiao Z	33131959	2021
17	A Resveratrol-Loaded Poly(2-hydroxyethyl methacrylate)-Chitosan Based Nanotherapeutic: Characterization and In Vitro Cytotoxicity Against Prostate Cancer. ⁶¹	Eroglu E	33500023	2021
18	Antimicrobial and antitumor activity of S-methyl dithiocarbazate Schiff base zinc(II) complexes. ⁶¹	Ramilo-Gomes F...Correia I	33348167	2021
19	A Density Functional Theory Study of Optical Rotation in some Aziridine and Oxirane derivatives. ⁶¹	Carrano RSG...Sauer SPA	33528071	2021
20	Ultrasound assisted synthesis and cytotoxicity evaluation of known 2',4'-dihydroxychalcone derivatives against cancer cell lines. ⁶¹	Villena J...Madrid A	33421463	2021
21	A novel series of substituted 1,2,3-triazoles as cancer stem cell inhibitors: Synthesis and biological evaluation. ⁶¹	Padhariya KN...Kharkar PS	32783257	2021
22	Chondroitin sulfate-hybridized zein nanoparticles for tumor-targeted delivery of docetaxel. ⁶¹	Lee HS...Lee JY	33278965	2021
23	Synthesis, Pharmacological Evaluation and Molecular Modelling Studies of Pregnenolone derivatives as Inhibitors of human dihydrofolate reductase. ⁶¹	Bilal Tufail M...Rashid U	33549543	2021
24	New Polyenes from the Marine-Derived Fungus Talaromyces cyanescens with Anti-Neuroinflammatory and Cytotoxic Activities. ⁶¹	Shin HJ...Lee HS	33562648	2021
25	Tandem MS-Based Metabolite Profiling of 19,20-Epoxycytochalasin C Reveals the Importance of a Hydroxy Group at the C7 Position for Biological Activity. ⁶¹	Kushwaha M...Jaglan S	33585752	2021
26	Diterpenoids from Leaves of Cultivated Plectranthus ornatus. ⁶¹	Mesquita LSF...Pessoa ODL	32746472	2021
27	Normalization of metabolic data to total thymine content and its application to determination of 2-hydroxyglutarate. ⁶¹	Modrzejewska M...Gackowski D	33556332	2021
28	Development and Preclinical Evaluation of 99mTc- and 186Re-Labeled NOTA and NODAGA Bioconjugates Demonstrating Matched Pair Targeting of GRPR-Expressing Tumors. ⁶¹	Makris G...Hennkens HM	32886303	2021
29	Development of Heterobivalent Theranostic Probes Having High Affinity/Selectivity for the GRPR/PSMA. ⁶¹	Bandari RP...Smith CJ	33534560	2021
30	The botanical component p-hydroxycinnamic acid suppresses the growth and bone metastatic activity of human prostate cancer PC-3 cells in vitro. ⁶¹	Yamaguchi M...Ramos JW	33001270	2021
31	SLX4IP Promotes Telomere Maintenance in Androgen Receptor-Independent Castration-Resistant Prostate Cancer through ALT-like Telomeric PML Localization. ⁶¹	Mangosh TL...Taylor DJ	33188147	2021
32	Synthesis of Silica Based Nanoparticles against the Proliferation of Human Prostate Cancer. ⁶¹	Durmus IM...Karakurt S	33557739	2021
33	66Ga-PET-imaging of GRPR-expression in prostate cancer: production and characterization of [66Ga]Ga-NOTA-PEG2-RM26. ⁶¹	Rinne SS...Orlova A	33574368	2021
34	Verbascoside inhibits the epithelial-mesenchymal transition of prostate cancer cells through high-mobility group box 1/receptor for advanced glycation end-products/TGF-β pathway. ⁶¹	Wu CH...Lin VC	33522686	2021
35	Bone-Targeted Calcium Phosphate-Polymer Hybrid Nanoparticle Co-Deliver Zoledronate and Docetaxel to Treat Bone Metastasis of Prostate Cancer. ⁶¹	Yang Q...Zhou SY	33166581	2021
36	Identification of lipidomic profiles associated with drug-resistant prostate cancer cells. ⁶¹	Ingram LM...Cummings BS	33596934	2021
37	5-HT7 receptors as a new target for prostate cancer physiopathology and treatment: an experimental study on PC-3 cells and FFPE tissues. ⁶¹	Cinar I...Cadirci E	33528589	2021
38	Design, Synthesis and Biological Evaluation of 1-methyl-1H-pyrazole-5-Carboxamide Derivatives as Novel Anti-Prostate Cancer Agents. ⁶¹	Chen X...Zhao G	33530916	2021
39	Delineating role of NF-κB and interacting cytokines during prostate cancer-induced osteoclastogenesis. ⁶¹	Jadli M...Bharti AC	33053226	2021
40	A styrylpyrone dimer isolated from Aniba heringeri causes apoptosis in MDA-MB-231 triple-negative breast cancer cells. ⁶¹	de Souza KFS...Perdomo RT	33477019	2021
41	Cytotoxic Physalins from Aeroponically Grown Physalis acutifolia. ⁶¹	Xu GB...Gunatilaka AAL	33586438	2021
42	Cashew apple (Anacardium occidentale L.) extract from a by-product of juice processing: assessment of its toxicity, antiproliferative and antimicrobial activities. ⁶¹	Sousa JMS...Dionisio AP	33568870	2021
43	Discovery of novel indole derivatives that inhibit NEDDylation and MAPK pathways against gastric cancer MGC803 cells. ⁶¹	Fu DJ...Zhang SY	33476867	2021
44	Regulation of anti-tumorigenic pathways by the combinatory treatment of calcitriol and TGF-β in PC-3 and DU145 cells. ⁶¹	Garcia-Olivares M...Barrera D	33582304	2021
45	Diagnosis of Dry Eye Disease Using Principal Component Analysis: A Study in Animal Models of the Disease. ⁶¹	Honkanen R...Rigas B	33445973	2021
46	Assessment of exopolysaccharides, bacteriocins and in vitro and in vivo hypocholesterolemic potential of some Egyptian Lactobacillus spp. ⁶¹	El-Dein AN...Farid MA	33482208	2021
47	Octadecyl chain-bearing PEGylated poly(propyleneimine)-based dendrimersomes: physicochemical studies, redox-responsiveness, DNA condensation, cytotoxicity and gene delivery to cancer cells. ⁶¹	Laskar P...Dufes C	33404026	2021
48	Two new physalin derivatives from Physalis alkekengi L. var. franchetii (Mast.) Makino. ⁶¹	Sun JL...Cheng L	31140313	2021
49	PhenQE8, a Novel Ligand of the Human Telomeric Quadruplex. ⁶¹	Gratal PB...Gude L	33451070	2021
50	Rational design, engineer, and characterization of a novel pegylated single isomer human arginase for arginine depriving anti-cancer treatment. ⁶¹	Yu KM...Leung TY	33129876	2021

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Genes for Pachyonychia Congenita 3

Genes related to Pachyonychia Congenita 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KRT6A	Keratin 6A	Protein Coding	1318.61	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	11886499

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Variations for Pachyonychia Congenita 3

ClinVar genetic disease variations for Pachyonychia Congenita 3:

⁶ (show all 13)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	KRT6A	NM_005554.4(KRT6A):c.520T>G (p.Phe174Val)	SNV	Pathogenic	14635	rs28933087	12:52886453-52886453	12:52492669-52492669
2	KRT6A	NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys)	SNV	Pathogenic	14636	rs60554162	12:52882122-52882122	12:52488338-52488338
3	KRT6A	NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg)	SNV	Pathogenic	14637	rs57052654	12:52882130-52882130	12:52488346-52488346
4	KRT6A	NM_005554.4(KRT6A):c.1406T>C (p.Leu469Pro)	SNV	Pathogenic	66576	rs57052654	12:52882130-52882130	12:52488346-52488346
5	KRT6A	NM_005554.4(KRT6A):c.521T>C (p.Phe174Ser)	SNV	Pathogenic	66591	rs61145796	12:52886452-52886452	12:52492668-52492668
6	KRT6A	NM_005554.4(KRT6A):c.1460-2A>C	SNV	Pathogenic	156022	rs113369052	12:52881741-52881741	12:52487957-52487957
7	KRT6A	NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter)	SNV	Pathogenic	827961	rs267607468	12:52882155-52882155	12:52488371-52488371
8	KRT6A	NM_005554.4(KRT6A):c.510_512CAA[2] (p.Asn172del)	Microsatellite	Pathogenic	14634	rs606231214	12:52886455-52886457	12:52492671-52492673
9	KRT6A	NM_005554.4(KRT6A):c.511A>G (p.Asn171Asp)	SNV	Pathogenic	66585	rs62635294	12:52886462-52886462	12:52492678-52492678
10	KRT6A	NM_005554.4(KRT6A):c.511A>T (p.Asn171Tyr)	SNV	Pathogenic	66586	rs62635294	12:52886462-52886462	12:52492678-52492678
11	KRT6A	NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser)	SNV	Pathogenic	66588	rs58556099	12:52886461-52886461	12:52492677-52492677
12	KRT6A	NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys)	SNV	Pathogenic	66589	rs59685571	12:52886460-52886460	12:52492676-52492676
13	KRT6A	NM_005554.4(KRT6A):c.1078-10T>C	SNV	Uncertain significance	930292		12:52883862-52883862	12:52490078-52490078

UniProtKB/Swiss-Prot genetic disease variations for Pachyonychia Congenita 3:

⁷³ (show all 24)

#	Symbol	AA change	Variation ID	SNP ID
1	KRT6A	p.Phe174Val	VAR_017075	rs28933087
2	KRT6A	p.Leu469Arg	VAR_017076	rs57052654
3	KRT6A	p.Glu472Lys	VAR_017077	rs60554162
4	KRT6A	p.Arg164Pro	VAR_072446	rs62635293
5	KRT6A	p.Gln166Pro	VAR_072447	rs267607460
6	KRT6A	p.Ile167Asn	VAR_072448	rs57126929
7	KRT6A	p.Leu170Phe	VAR_072449	rs57448541
8	KRT6A	p.Asn171Asp	VAR_072450	rs62635294
9	KRT6A	p.Asn171Lys	VAR_072451	rs59685571
10	KRT6A	p.Asn171Ser	VAR_072452	rs58556099
11	KRT6A	p.Asn171Tyr	VAR_072453	rs62635294
12	KRT6A	p.Phe174Cys	VAR_072455	rs61145796
13	KRT6A	p.Phe174Ser	VAR_072456	rs61145796
14	KRT6A	p.Ser176Pro	VAR_072457	rs59642296
15	KRT6A	p.Ile178Asn	VAR_072458	rs267607461
16	KRT6A	p.Ile462Asn	VAR_072459	rs57629991
17	KRT6A	p.Ile462Ser	VAR_072460	rs57629991
18	KRT6A	p.Ala463Pro	VAR_072461	rs267607462
19	KRT6A	p.Thr464Pro	VAR_072462	rs61293647
20	KRT6A	p.Tyr465His	VAR_072463	rs267607463
21	KRT6A	p.Tyr465Ser	VAR_072464
22	KRT6A	p.Leu468Pro	VAR_072465	rs59018888
23	KRT6A	p.Leu468Gln	VAR_072466	rs59018888
24	KRT6A	p.Leu469Pro	VAR_072467	rs57052654

Sources

Expression for Pachyonychia Congenita 3

Search GEO for disease gene expression data for Pachyonychia Congenita 3.

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Pathways for Pachyonychia Congenita 3

Sources

GO Terms for Pachyonychia Congenita 3

Sources

Sources for Pachyonychia Congenita 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Pachyonychia Congenita 3 (PC3)

Aliases & Classifications for Pachyonychia Congenita 3

MalaCards integrated aliases for Pachyonychia Congenita 3:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Pachyonychia Congenita 3

Related Diseases for Pachyonychia Congenita 3

Diseases in the Pachyonychia Congenita, Autosomal Recessive family:

Diseases related to Pachyonychia Congenita 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Pachyonychia Congenita 3:

Symptoms & Phenotypes for Pachyonychia Congenita 3

Human phenotypes related to Pachyonychia Congenita 3:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Pachyonychia Congenita 3

Drugs for Pachyonychia Congenita 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Pachyonychia Congenita 3

Genetic tests related to Pachyonychia Congenita 3:

Anatomical Context for Pachyonychia Congenita 3

MalaCards organs/tissues related to Pachyonychia Congenita 3:

Publications for Pachyonychia Congenita 3

Articles related to Pachyonychia Congenita 3:

Genes for Pachyonychia Congenita 3

Genes related to Pachyonychia Congenita 3 (1 elite genes):

Variations for Pachyonychia Congenita 3

ClinVar genetic disease variations for Pachyonychia Congenita 3:

UniProtKB/Swiss-Prot genetic disease variations for Pachyonychia Congenita 3:

Expression for Pachyonychia Congenita 3

Pathways for Pachyonychia Congenita 3

GO Terms for Pachyonychia Congenita 3

Sources for Pachyonychia Congenita 3