PC
MCID: PCH001
MIFTS: 64

Pachyonychia Congenita (PC) malady

Skin diseases, Fetal diseases categories

Summaries for Pachyonychia Congenita

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Pachyonychia congenita (pc) is a very rare inherited condition that primarily affects the nails and skin. the fingernails and toenails are usually thickened and abnormally shaped. affected individuals may also develop painful calluses and blisters on the soles of their feet and palms of their hands (palmoplantar keratoderma). additional features include white patches on the tongue and inside of the mouth; bumps around the elbows, knees, and waistline; cysts in the armpits, groin, back, or scalp; and excessive sweating on the palms or soles of the feet. features may vary among affected individuals.two major types of this condition have been described: pachyonychia congenita type 1 (pc-1) and pachyonychia congenita type 2 (pc-2). pc is caused by a mutation in one of four genes. mutations in the krt6a and krt16 gene cause pc-1; mutations in krt6b and krt17 result in pc-2. last updated: 5/4/2011

MalaCards: Pachyonychia Congenita, also known as pachyonychia congenita, jadassohn-lewandowsky type, is related to pachyonychia congenita type 2 and alopecia, and has symptoms including absent/small fingernails/anonychia of hands, skin tumors/lumps/epidermal cysts and hair and scalp anomalies. An important gene associated with Pachyonychia Congenita is KRT16 (keratin 16), and among its related pathways are Cytoskeletal Signaling and Cytoskeleton remodeling Keratin filaments. The compounds dithranol and acitretin have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and lung, and related mouse phenotypes are digestive/alimentary and integument.

Genetics Home Reference:21 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, although a rare form of the condition known as pachyonychia congenita tarda appears in adolescence or early adulthood.

Wikipedia:63 Pachyonychia congenita is an autosomal dominant skin disorder. more...

Description from OMIM:46 167210,167200,260130

GeneReviews summary for pc

Aliases & Classifications for Pachyonychia Congenita

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 60UMLS, 22GTR, 9diseasecard, 46OMIM, 20GeneTests, 44Novoseek, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

48
pachyonychia congenita:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

pachyonychia congenita 8 19 42 21 10 48 60
pachyonychia congenita, jadassohn-lewandowsky type 8 9 46
pachyonychia congenita syndrome 42 20 21
pachyonychia congenita type 1 8 42 22
congenital pachyonychia 42 21
pachyonychia congenita, jadassohn lewandowsky type 60
pachyonychia congenita jadassohn lewandowsky type 42
pachyonychia congenita, jackson-lawler type 9
jackson-lawler type pachyonychia congenita 8
jadassohn-lewandowsky syndrome 8
pachyonychia congenita, type 1 44
jadassohn lewandowsky syndrome 42
jadassohn-lewandowski syndrome 21
lewandowski kikolich syndrome 42
jackson-lawler syndrome 21
pc1 42
pc 48


External Ids:

Disease Ontology8 DOID:0050449
MeSH34 D053549
MESH via Orphanet35 D053549
ICD10 via Orphanet26 Q84.5
SNOMED-CT via Orphanet57 39427000
UMLS via Orphanet61 C0265334

Related Diseases for Pachyonychia Congenita

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17GeneCards, 18GeneDecks
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Diseases in the Pachyonychia Congenita family:

Pachyonychia Congenita Type 2 Krt16-Related Pachyonychia Congenita
Krt17-Related Pachyonychia Congenita Krt6a-Related Pachyonychia Congenita
Krt6b-Related Pachyonychia Congenita

Diseases related to Pachyonychia Congenita via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 144)
idRelated DiseaseScoreTop Affiliating Genes
1pachyonychia congenita type 230.8KRT6B, KRT17
2alopecia30.5KRT86
3median rhomboid glossitis30.2KRT6A, KRT6B
4steatocystoma multiplex30.2KRT16, KRT17
5epidermolysis bullosa30.2FLG, KRT5
6epidermolysis bullosa simplex30.1FLG, KRT86, KRT16, KRT5, KRT81, KRT2
7prostatitis10.5
8laryngitis10.4
9prostate cancer10.4
10pyruvate carboxylase deficiency disease10.3
11breast cancer10.3
12hidradenitis suppurativa10.3
13hidradenitis10.3
14krt16-related pachyonychia congenita10.3
15krt17-related pachyonychia congenita10.3
16krt6a-related pachyonychia congenita10.3
17krt6b-related pachyonychia congenita10.3
18myeloma10.2
19neuronitis10.2
20paramyotonia congenita10.2
21clouston syndrome10.1
22dyskeratosis congenita10.1
23exfoliation syndrome10.1
24tuberous sclerosis10.1
25patent ductus arteriosus10.1
26fissured tongue10.1
27amyloidosis10.1
28candidiasis10.1
29corneal dystrophy10.1
30glossitis10.1
31sarcoma10.1
32reye syndrome10.1
33biotin deficiency10.1
34citrullinemia10.1
35holocarboxylase synthetase deficiency10.1
36acute porphyria10.1
37adenocarcinoma10.1
38lactic acidosis10.1
39methylmalonic acidemia10.1
40multiple myeloma10.1
41organic acidemia10.1
42porphyria10.1
43protein-energy malnutrition10.1
44short-chain acyl-coa dehydrogenase deficiency10.1
45thyroiditis10.1
46cerebritis10.1
47hypoglycemia10.1
48lung cancer10.1
49neuropathy10.1
50enamel caries10.0

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



Diseases related to pachyonychia congenita

Clinical Features for Pachyonychia Congenita

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46OMIM, 48Orphanet
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Clinical features from OMIM:

167210,167200,260130

Clinical synopsis from OMIM:

167200

Symptoms:

48 (show all 25)
  • absent/small fingernails/anonychia of hands
  • skin tumors/lumps/epidermal cysts
  • hair and scalp anomalies
  • abnormal fingernails
  • dysplastic/thick/grooved fingernails
  • alopecia
  • enanthema/aphtosa/aphta/leukoplakia
  • dysplastic/thick/grooved toenails
  • abnormal nails colour/leukonychia/melanonychia
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • palmoplantar hyperkeratosis/keratoderma
  • corneal dystrophy
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hyperhidrosis/increased sweating
  • autosomal dominant inheritance
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cataract/lens opacification
  • hepatomegaly/liver enlargement (excluding storage disease)
  • anomalies of teeth and dentition
  • multiple caries
  • ichthyosis/ichthyosiform dermatitis
  • laryngomalacia
  • nails anomalies
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • autosomal recessive inheritance

Drugs & Therapeutics for Pachyonychia Congenita

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Pachyonychia Congenita

Drug clinical trials:

Search ClinicalTrials for Pachyonychia Congenita

Search NIH Clinical Center for Pachyonychia Congenita

Search CenterWatch for Pachyonychia Congenita

Genetic Tests for Pachyonychia Congenita

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20GeneTests, 22GTR
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Genetic tests related to Pachyonychia Congenita:

id Genetic test Affiliating Genes
1 Pachyonychia Congenita20 KRT6B
2 Pachyonychia Congenita, Type 122

Anatomical Context for Pachyonychia Congenita

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32MalaCards
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MalaCards organs/tissues related to Pachyonychia Congenita:

32
Skin, Tongue, Lung, Liver

Animal Models for Pachyonychia Congenita or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pachyonychia Congenita:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.7PCSK5, KRT16, KRT5, KRT6B, KRT17, KRT6A
2MP:00107718.1KRT16, KRT5, KRT2, KRT6A, KRT6B, KRT17
3MP:00053827.8KRT17, FLG, PCSK5, KRT16, KRT5, KRT2

Publications for Pachyonychia Congenita

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Sources:
50PubMed
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Articles related to Pachyonychia Congenita:

(show top 50)    (show all 215)
idTitleAuthorsYear
1
Best treatment practices for pachyonychia congenita. (23363249)
2013
2
A new KRT16 mutation associated with a phenotype of pachyonychia congenita. (24118415)
2013
3
Pachyonychia congenita type 2 (Jackson-Lawler syndrome) or PC-17: case report. (23683487)
2013
4
Pachyonychia congenita-associated alopecia. (23056978)
2012
5
Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders. (22336941)
2012
6
Pachyonychia congenita affecting only nails. (22080696)
2011
7
Use of self-delivery siRNAs to inhibit gene expression in an organotypic pachyonychia congenita model. (21248764)
2011
8
Oral manifestations of pachyonychia congenita. (21062597)
2010
9
Marathon of eponyms: 10 Jadassohn-Lewandowsky syndrome (Pachyonychia congenita). (20374515)
2010
10
Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view. (19107515)
2009
11
Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations. (19785597)
2009
12
Identification of two recurrent mutations in keratin genes in three cases with pachyonychia congenita. (18429985)
2009
13
Pachyonychia congenita: a case report. (20099620)
2009
14
Mice expressing a mutant Krt75 (K6hf) allele develop hair and nail defects resembling pachyonychia congenita. (17851587)
2008
15
Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families. (18489596)
2008
16
Pachyonychia congenita with woolly hair in a ten month old infant. (19052410)
2008
17
Pachyonychia congenita with unusual dental findings: a case report. (17577549)
2007
18
A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1. (17309457)
2007
19
Treatment of pachyonychia congenita with plantar injections of botulinum toxin. (16536826)
2006
20
Pachyonychia congenita with only nail involvement. (16700840)
2006
21
Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database. (16250207)
2005
22
Overcoming functional redundancy to elicit pachyonychia congenita-like nail lesions in transgenic mice. (15601842)
2005
23
Identification of a recurrent mutation in keratin 17 in a Japanese family with pachyonychia congenita type 2. (15795125)
2005
24
A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2. (15102078)
2004
25
Pachyonychia congenita-like nail changes treated successfully with a combination of vitamins A and E: a case report. (17642932)
2003
26
Pachyonychia congenita affecting only the nails. (11860585)
2002
27
Pachyonychia congenita: a case report. (11841652)
2001
28
Keratin 17 expression in the hard epithelial context of the hair and nail, and its relevance for the pachyonychia congenita phenotype. (10844551)
2000
29
Pachyonychia congenita tarda. (10954990)
2000
30
Eruptive vellus hair cyst in a patient with pachyonychia congenita. (10405490)
1999
31
Pachyonychia congenita type 2: keratin 17 mutation in a Japanese case. (9632020)
1998
32
What syndrome is this? Pachyonychia congenita. (9436853)
1997
33
Pachyonychia congenita-associated alopecia. A microscopic analysis using transverse section technique. (9129704)
1997
34
Pachyonychia congenita tarda. (8698920)
1996
35
Pachyonychia congenita. A historical note. (8311195)
1993
36
Pachyonychia congenita: a clinical study of 12 cases and review of the literature. (2140447)
1990
37
Pachyonychia congenita. Manifestations for the otolaryngologist. (2340127)
1990
38
Pachyonychia congenita. (3053803)
1988
39
Pachyonychia congenita with laryngeal involvement. (3667099)
1987
40
Pachyonychia congenita. Electron microscopic and epidermal glycoprotein assessment before and during isotretinoin treatment. (6594079)
1984
41
Pachyonychia congenita: surgical management of the nail changes. (7056926)
1982
42
Pachyonychia congenita (Jadassohn-Lewandowsky syndrome). A review of 14 cases in Slovenia. (6456161)
1981
43
Pachyonychia congenita. (581082)
1978
44
Pachyonychia congenita with cardiac involvement. (140628)
1977
45
Pachyonychia congenita with involvement of the larynx. (1267708)
1976
46
Pachyonychia congenita in father and son. (5173283)
1971
47
Sodium laevothyroxine in pachyonychia congenita. (5705304)
1968
48
PACHYONYCHIA CONGENITA. (14319912)
1965
49
Four hereditary mucosal syndromes: comparative histology and exfoliative cytology of Darier-White's disease, hereditary benign intraepithelial dyskeratosis, white sponge nevus, and pachyonychia congenita. (14007732)
1961
50
Pachyonychia congenita; a review and new approach to treatment. (13227622)
1955

Genetic Variations for Pachyonychia Congenita

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Pachyonychia Congenita:

62
id Symbol AA change Variation ID SNP ID
1KRT16p.Leu132ProVAR_003846rs60944949
2KRT16p.Gln122ProVAR_012855rs59349773
3KRT16p.Arg127ProVAR_012856rs57424749
4KRT16p.Leu124ArgVAR_013837rs58293603
5KRT16p.Met121ThrVAR_017065rs28928894
6KRT16p.Leu128GlnVAR_017066rs28928895
7KRT16p.Lys354AsnVAR_017067rs59328451
8KRT6Ap.Phe174ValVAR_017075rs28933087
9KRT6Ap.Leu469ArgVAR_017076rs57052654
10KRT6Ap.Glu472LysVAR_017077rs60554162

Expression for genes affiliated with Pachyonychia Congenita

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pachyonychia Congenita

Search GEO for disease gene expression data for Pachyonychia Congenita.

Pathways for genes affiliated with Pachyonychia Congenita

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4Cell Signaling Technology, 12EMD Millipore
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Pathways related to Pachyonychia Congenita according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2KRT17, KRT6B, KRT6A, KRT5, KRT6C
28.9KRT17, KRT6C, KRT16, KRT5, KRT2, KRT6A

Compounds for genes affiliated with Pachyonychia Congenita

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44Novoseek, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB
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Compounds related to Pachyonychia Congenita according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dithranol449.7FLG, KRT16
2acitretin44 1110.6KRT17, KRT5
3calcipotriol44 59 28 1112.5KRT5, KRT16, FLG
4retinoid449.0KRT17, KRT2, KRT5, KRT16, FLG
5retinoic acid44 249.9KRT17, KRT2, KRT5, KRT16, FLG

GO Terms for genes affiliated with Pachyonychia Congenita

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16Gene Ontology
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Cellular components related to Pachyonychia Congenita according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:0450956.9KRT86, KRT5, KRT81, KRT2, KRT72, KRT6A
2intermediate filamentGO:0058826.8KRT17, FLG, KRT6C, KRT86, KRT16, KRT5

Biological processes related to Pachyonychia Congenita according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratinizationGO:0314249.9KRT17, KRT2
2intermediate filament organizationGO:0451099.9KRT17, KRT9
3ectoderm developmentGO:0073989.7KRT6B, KRT6A
4cytoskeleton organizationGO:0070109.5KRT6C, KRT86, KRT16
5epidermis developmentGO:0085449.1KRT17, KRT9, KRT2, KRT5, KRT16

Molecular functions related to Pachyonychia Congenita according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052008.2KRT16, KRT5, KRT2, KRT6A, KRT6B, KRT9
2structural molecule activityGO:0051987.6FLG, KRT6C, KRT86, KRT81, KRT72, KRTAP11-1

Products for genes affiliated with Pachyonychia Congenita

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Sources for Pachyonychia Congenita

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet