PC
MCID: PCH001
MIFTS: 64

Pachyonychia Congenita (PC) malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases categories
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Summaries for Pachyonychia Congenita

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 individuals 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 individuals 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. more than 100 mutations in these genes have been found to cause pc. last updated: 6/5/2014

MalaCards: Pachyonychia Congenita, also known as pachyonychia congenita syndrome, is related to steatocystoma multiplex and pachyonychia congenita 2, and has symptoms including cataract/lens opacification, hypotrichosis/atrichia/atrichiasis/scalp hairlessness and alopecia. 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 acitretin and dithranol have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and lung, and related mouse phenotypes are pigmentation and digestive/alimentary.

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:65 Pachyonychia congenita is an autosomal dominant skin disorder. more...

Description from OMIM:47 167200,167210,260130,615726,615728

GeneReviews summary for pc

Aliases & Classifications for Pachyonychia Congenita

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8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 49Orphanet, 62UMLS, 22GTR, 9diseasecard, 20GeneTests, 47OMIM, 45Novoseek, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
pachyonychia congenita:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

pachyonychia congenita 8 19 43 21 10 49 62
pachyonychia congenita syndrome 43 20 21
pachyonychia congenita, jadassohn-lewandowsky type 8 9
pachyonychia congenita type 1 8 22
congenital pachyonychia 43 21
pachyonychia congenita, jadassohn lewandowsky type 62
pachyonychia congenita, jackson-lawler type 9
jackson-lawler type pachyonychia congenita 8
jadassohn-lewandowsky syndrome 8
jadassohn-lewandowski syndrome 21
pachyonychia congenita, type 1 45
pachyonychia congenita 1 47
jackson-lawler syndrome 21
pc 49


External Ids:

Disease Ontology8 DOID:0050449
MeSH35 D053549
MESH via Orphanet36 D053549
ICD10 via Orphanet26 Q84.5
SNOMED-CT via Orphanet59 39427000
UMLS via Orphanet63 C0265334

Related Diseases for Pachyonychia Congenita

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

Krt16-Related Pachyonychia Congenita Krt17-Related Pachyonychia Congenita
Krt6a-Related Pachyonychia Congenita Krt6b-Related Pachyonychia Congenita
Pachyonychia Congenita 3 Pachyonychia Congenita 4
Pachyonychia Congenita 2

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

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1steatocystoma multiplex31.2KRT17, KRT16
2pachyonychia congenita 231.0KRT6B, KRT17
3keratoderma30.9KRT16, KRT9, KRT17
4median rhomboid glossitis30.4KRT6B, KRT6A
5epidermolysis bullosa30.3FLG, KRT5
6epidermolysis bullosa simplex30.0KRT2, KRT86, KRT16, KRT5, KRT81, KRT17
7pachyonychia congenita 310.6
8pachyonychia congenita 410.6
9laryngitis10.5
10alopecia10.4
11focal palmoplantar keratoderma10.4
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
18fissured tongue10.2
19tuberous sclerosis10.2
20patent ductus arteriosus10.2
21clouston syndrome10.2
22amyloidosis10.2
23candidiasis10.2
24corneal dystrophy10.2
25glossitis10.2
26sarcoma10.2
27twenty-nail dystrophy10.2
28hereditary benign intraepithelial dyskeratosis10.2
29ectodermal dysplasia10.1KRT17
30nonepidermolytic palmoplantar keratoderma10.1KRTAP11-1
31sebocystomatosis10.1
32x-linked ichthyosis10.1FLG
33monilethrix10.1KRT81, KRT86
34congenital ichthyosiform erythroderma10.1FLG
35contact dermatitis10.0KRT16, FLG
36palmoplantar keratosis10.0KRT9, GJB6
37epidermolytic hyperkeratosis10.0KRT5, FLG
38diffuse palmoplantar keratoderma, bothnian type10.0KRT17, KRT9, KRT16
39palmoplantar keratoderma, epidermolytic10.0KRT16, KRT17, KRT9
40bowen syndrome10.0FLG, KRT17, KRT16
41lichen planus10.0KRT16, FLG
42hypertrophic scars10.0KRT5, KRT16, FLG
43cholesteatoma10.0KRT16, FLG
44papilloma10.0KRT5, FLG
45bullous pemphigoid10.0KRT5, FLG
46psoriasis10.0FLG, KRT17, KRT16, KRT5
47hereditary mucosal leukokeratosis10.0KRT6A, KRT6B, KRTAP11-1, KRT2, KRT9
48keratosis10.0KRT86, FLG, KRT6B, KRT6A, KRT16
49tongue squamous cell carcinoma9.9KRT17, FLG, KRT16, KRT5
50skin disease9.9GJB6, KRT9, KRT6A, KRT16, KRT5, FLG

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



Diseases related to pachyonychia congenita

Symptoms for Pachyonychia Congenita

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

167200

Clinical features from OMIM:

167200,167210,260130,615726,615728

Symptoms:

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

Drugs & Therapeutics for Pachyonychia Congenita

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Pachyonychia Congenita

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Pachyonychia Congenita:

33
Skin, Tongue, Lung, Liver

Animal Models for Pachyonychia Congenita or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Pachyonychia Congenita:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.6KRT9, KRT2, KRT17
2MP:00053818.9KRT16, PCSK5, KRT6B, KRT6A, KRT17, KRT5
3MP:00053778.9KRT2, GJB6, FZD6, FLG
4MP:00053718.6KRT2, PCSK5, KRT5, FZD6, KRT9
5MP:00053868.5KRT16, GJB6, KRT6B, KRT9, KRT6A, KRT5
6MP:00053828.2KRT6B, KRT17, FLG, KRT2, KRT6A, KRT16
7MP:00107687.9FZD6, KRT6B, KRT6A, PCSK5, KRT16, FLG
8MP:00107717.8KRT16, KRT9, KRT6B, KRT17, FZD6, FLG

Publications for Pachyonychia Congenita

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Sources:
52PubMed
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Articles related to Pachyonychia Congenita:

(show top 50)    (show all 214)
idTitleAuthorsYear
1
Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2. (23855588)
2013
2
Pachyonychia congenita type 2: an unusual presentation. (23249838)
2013
3
Pachyonychia congenita tarda: A rare case report. (24124319)
2013
4
Best treatment practices for pachyonychia congenita. (23363249)
2013
5
A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. (22264670)
2012
6
Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16. (22098151)
2012
7
Pachyonychia congenita-associated alopecia. (23056978)
2012
8
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
9
Toward a treatment for pachyonychia congenita: report on the 7th Annual International Pachyonychia Congenita Consortium meeting. (21494242)
2011
10
Development of skin-humanized mouse models of pachyonychia congenita. (21150925)
2011
11
Paternal germ cell mosaicism in autosomal dominant pachyonychia congenita. (21576551)
2011
12
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. (21160496)
2011
13
Do you know this syndrome? Pachyonychia congenita. (22281922)
2011
14
Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita. (21390048)
2011
15
The 521 T--> C mutation in the keratin 6A gene in a pedigree with pachyonychia congenita type I]. (20140871)
2010
16
Oral manifestations of pachyonychia congenita. (21062597)
2010
17
Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1. (19416275)
2009
18
Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients. (19699613)
2009
19
Pachyonychia congenita tarda affecting only the nails. (18700115)
2008
20
Mice expressing a mutant Krt75 (K6hf) allele develop hair and nail defects resembling pachyonychia congenita. (17851587)
2008
21
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita. (18495438)
2008
22
Therapeutic interference: a step closer for pachyonychia congenita? (18071332)
2008
23
Pachyonychia congenita with unusual dental findings: a case report. (17577549)
2007
24
Mouse models in preclinical studies for pachyonychia congenita. (16250208)
2005
25
Pachyonychia congenita. Case report. (16456523)
2005
26
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
27
Clouston syndrome can mimic pachyonychia congenita. (14708603)
2003
28
Pachyonychia congenita affecting only the nails. (11860585)
2002
29
A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2. (11874497)
2002
30
Pachyonychia congenita: a case report. (11841652)
2001
31
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. (10839714)
2000
32
Avoiding Pachyonychia congenita using oocyte donation. (10026421)
1999
33
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. (9767294)
1998
34
Otological lesions in pachyonychia congenita syndrome. (9015428)
1996
35
Keratin 16 and keratin 17 mutations cause pachyonychia congenita. (7539673)
1995
36
Mutation of a type II keratin gene (K6a) in pachyonychia congenita. (7545493)
1995
37
Diagnosis and management of laryngeal obstruction in childhood pachyonychia congenita. (7729988)
1995
38
Pachyonychia congenita tarda. A late-onset form of pachyonychia congenita. (1827243)
1991
39
Etretinate-responsive pachyonychia congenita. (3191023)
1988
40
Pachyonychia congenita (Jadassohn-Lewandowsky syndrome). A review of 14 cases in Slovenia. (6456161)
1981
41
The pachyonychia congenita syndrome. (6153833)
1980
42
Cornoid lamella in pachyonychia congenita. (736589)
1978
43
Pachyonychia congenita Jadassohn-Lewandowsky: a disorder of keratinization. (74170)
1977
44
Pachyonychia congenita and steatocystoma multiplex. (577197)
1977
45
Pachyonychia congenita with cardiac involvement. (140628)
1977
46
Pachyonychia congenita in father and son. (5173283)
1971
47
Pachyonychia congenita with metacarpal-phalangeal agenesis in a dog. (5199077)
1970
48
Sodium laevothyroxine in pachyonychia congenita. (5705304)
1968
49
Oral lesions accompanying pachyonychia congenita. (13553304)
1958
50
Pachyonychia Congenita (Jadassohn and Lewandowski). (19991775)
1939

Variations for Pachyonychia Congenita

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Pachyonychia Congenita:

64
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

Clinvar genetic disease variations for Pachyonychia Congenita:

1
id Gene Name Type Significance SNP ID Assembly Location
1KRT16NM_005557.3(KRT16): c.395T> C (p.Leu132Pro)single nucleotide variantPathogenicrs60944949GRCh37Chr 17, 39768546: 39768546
2KRT16NM_005557.3(KRT16): c.389_391delCCT (p.Ser130del)deletionPathogenicrs58181827GRCh37Chr 17, 39768550: 39768552
3KRT16NM_005557.3(KRT16): c.380G> C (p.Arg127Pro)single nucleotide variantPathogenicrs57424749GRCh37Chr 17, 39768561: 39768561
4KRT16NM_005557.3(KRT16): c.365A> C (p.Gln122Pro)single nucleotide variantPathogenicrs59349773GRCh37Chr 17, 39768576: 39768576
5KRT16NM_005557.3(KRT16): c.371T> G (p.Leu124Arg)single nucleotide variantPathogenicrs58293603GRCh37Chr 17, 39768570: 39768570
6KRT16NM_005557.3(KRT16): c.1062A> T (p.Lys354Asn)single nucleotide variantPathogenicrs59328451GRCh37Chr 17, 39766801: 39766801
7KRT16NM_005557.3(KRT16): c.362T> C (p.Met121Thr)single nucleotide variantPathogenicrs28928894GRCh37Chr 17, 39768579: 39768579
8KRT16NM_005557.3(KRT16): c.383T> A (p.Leu128Gln)single nucleotide variantPathogenicrs28928895GRCh37Chr 17, 39768558: 39768558

Expression for genes affiliated with Pachyonychia Congenita

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2BioGPS, 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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50PathCards, 5Cell Signaling Technology, 60Thomson Reuters
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Pathways related to Pachyonychia Congenita according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5KRT5, KRT6A, KRT6B, KRT17
29.2KRT5, KRT16, KRT6A, KRT2, KRT17

Compounds for genes affiliated with Pachyonychia Congenita

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45Novoseek, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 24HMDB
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Compounds related to Pachyonychia Congenita according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acitretin45 1111.0KRT17, KRT5
2dithranol4510.0FLG, KRT16
3paraffin459.7KRT16, KRT5, KRT17
4calcipotriol45 61 29 1112.7KRT5, KRT16, FLG
5histidine459.3FLG, KRT9, KRT5
6retinoid459.2KRT16, KRT2, KRT17, FLG, KRT5
7retinoic acid45 2410.1KRT5, KRT16, KRT2, KRT17, FLG
8serine458.6KRT5, KRT16, KRT17, FLG, PCSK5

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
1extracellular spaceGO:0056158.7PCSK5, KRT81, KRT2, KRT86, KRT9
2extracellular vesicular exosomeGO:0700628.3KRT16, KRT6A, KRT9, KRT2, KRT6B, KRT5
3intermediate filamentGO:0058827.7KRT17, FLG, KRT2, KRTAP17-1, KRT5, KRT16
4keratin filamentGO:0450957.4KRT6A, KRT5, KRTAP11-1, KRT72, KRT86, KRT2

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

idNameGO IDScoreTop Affiliating Genes
1keratinizationGO:0314249.9KRT2, KRT17
2intermediate filament organizationGO:0451099.8KRT9, KRT17
3ectoderm developmentGO:0073989.7KRT6B, KRT6A
4epidermis developmentGO:0085449.1KRT2, KRT5, KRT16, KRT9, KRT17

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052008.3KRT17, KRT6B, KRT2, KRT9, KRT6A, KRT16
2structural molecule activityGO:0051988.1FLG, KRT81, KRT86, KRT72, KRTAP11-1

Products for genes affiliated with Pachyonychia Congenita

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pachyonychia Congenita

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet