PC
MCID: PCH001
MIFTS: 55

Pachyonychia Congenita (PC) malady

Skin, Fetal categories

Summaries for Pachyonychia Congenita

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 steatocystoma multiplex and pachyonychia congenita type 2, and has symptoms including autosomal recessive inheritance, intellectual deficit/mental/psychomotor retardation/learning disability and hyperhidrosis/increased sweating. 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 t cells, 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:64 Pachyonychia congenita is an autosomal dominant skin disorder. more...

Description from OMIM:47 167210,167200,260130

GeneReviews summary for pc

Aliases & Classifications for Pachyonychia Congenita

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 49Orphanet, 61UMLS, 22GTR, 9diseasecard, 47OMIM, 20GeneTests, 45Novoseek, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


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 61
pachyonychia congenita, jadassohn-lewandowsky type 8 9 47
pachyonychia congenita syndrome 43 20 21
pachyonychia congenita type 1 8 43 22
congenital pachyonychia 43 21
pachyonychia congenita, jadassohn lewandowsky type 61
pachyonychia congenita jadassohn lewandowsky type 43
pachyonychia congenita, jackson-lawler type 9
jackson-lawler type pachyonychia congenita 8
jadassohn-lewandowsky syndrome 8
pachyonychia congenita, type 1 45
jadassohn lewandowsky syndrome 43
jadassohn-lewandowski syndrome 21
lewandowski kikolich syndrome 43
jackson-lawler syndrome 21
pc1 43
pc 49


External Ids:

Disease Ontology8 DOID:0050449
MeSH35 D053549
MESH via Orphanet36 D053549
ICD10 via Orphanet26 Q84.5
SNOMED-CT via Orphanet58 39427000
UMLS via Orphanet62 C0265334

Related Diseases for Pachyonychia Congenita

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Pachyonychia Congenita family:

pachyonychia congenita type 2

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

(show top 50)    (show all 110)
idRelated DiseaseScoreTop Affiliating Genes
1steatocystoma multiplex31.0KRT16, KRT17
2pachyonychia congenita type 230.8KRT6B, KRT17
3keratoderma30.8KRT16, KRT9, KRT17
4alopecia30.6KRT86
5median rhomboid glossitis30.2KRT6A, KRT6B
6epidermolysis bullosa simplex30.2FLG, KRT86, KRT16, KRT5, KRT81, KRT2
7focal palmoplantar keratoderma10.4
8pyruvate carboxylase deficiency disease10.4
9hidradenitis suppurativa10.3
10krt16-related pachyonychia congenita10.3
11krt17-related pachyonychia congenita10.3
12krt6a-related pachyonychia congenita10.3
13krt6b-related pachyonychia congenita10.3
14paramyotonia congenita10.3
15reye syndrome10.2
16biotin deficiency10.2
17citrullinemia10.2
18holocarboxylase synthetase deficiency10.2
19acute porphyria10.2
20adenocarcinoma10.2
21short-chain acyl-coa dehydrogenase deficiency10.2
22clouston syndrome10.2
23dyskeratosis congenita10.2
24tuberous sclerosis10.2
25n syndrome10.2
26patent ductus arteriosus10.2
27fissured tongue10.2
28amyloidosis10.2
29kyrle disease10.2
30twenty-nail dystrophy10.2
31hereditary benign intraepithelial dyskeratosis10.2
32cerebritis10.1
33hypoglycemia10.1
34sebocystomatosis10.1
35adenoma10.0
36enamel caries10.0
37pyruvate decarboxylase deficiency10.0
38hyperlysinemia10.0
39neuronitis10.0
40postcholecystectomy syndrome10.0
41duodenitis10.0
42insulinoma10.0
43metabolic acidosis10.0
44propionic acidemia10.0
45apraxia10.0
46astrocytoma10.0
47bladder carcinoma10.0
48squamous cell carcinoma10.0
49thrombophilia10.0
50hypoxia10.0

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



Diseases related to pachyonychia congenita

Clinical Features for Pachyonychia Congenita

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

167210,167200,260130

Clinical synopsis from OMIM:

167200

Symptoms:

49 (show all 25)
  • autosomal recessive inheritance
  • 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
  • corneal dystrophy
  • palmoplantar hyperkeratosis/keratoderma
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • 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

Drugs & Therapeutics for Pachyonychia Congenita

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Pachyonychia Congenita:

33
Skin, Tongue, T cells

Animal Models for Pachyonychia Congenita or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Pachyonychia Congenita:

37
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

Sources:
51PubMed
See all sources

Articles related to Pachyonychia Congenita:

(show top 50)    (show all 217)
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
Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma. (23927070)
2013
5
Pachyonychia congenita: A rare genodermatosis. (23984242)
2013
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
Double trouble: homozygous dominant mutations and hair loss in pachyonychia congenita. (22695286)
2012
9
A large mutational study in pachyonychia congenita. (21326300)
2011
10
Pachyonychia congenita affecting only nails. (22080696)
2011
11
Keratin 17 mutation in pachyonychia congenita type 2 in a Chinese Han family]. (21287500)
2011
12
Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1. (19416275)
2009
13
Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients. (19699613)
2009
14
Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation. (19120334)
2009
15
Pachyonychia congenita type I presenting with subtle nail changes. (19689542)
2009
16
Two mutations of the KRT6A gene in Chinese patients with pachyonychia congenita type I]. (19806570)
2009
17
Mice expressing a mutant Krt75 (K6hf) allele develop hair and nail defects resembling pachyonychia congenita. (17851587)
2008
18
Pachyonychia congenita and hidradenitis suppurativa: no response to infliximab therapy. (18482325)
2008
19
Pachyonychia congenita with unusual dental findings: a case report. (17577549)
2007
20
Pachyonychia congenita associated with median rhomboid glossitis. (17511954)
2007
21
Treatment of pachyonychia congenita with plantar injections of botulinum toxin. (16536826)
2006
22
SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder pachyonychia congenita. (17145926)
2006
23
Pachyonychia congenita: treatment of the thickened nails and palmoplantar circumscribed callosities with urea 40% paste. (16684301)
2006
24
Pachyonychia congenita. Case report. (16456523)
2005
25
A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a. (15840119)
2005
26
Case study: pachyonychia congenita: a mixed type II-type IV presentation. (15249789)
2004
27
Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts. (12653736)
2003
28
Pachyonychia congenita, type II. (14594585)
2003
29
Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. (11359398)
2001
30
A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1. (10232400)
1999
31
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1. (10521820)
1999
32
Pachyonychia congenita associated with steatocystoma multiplex. (9714984)
1998
33
Steatocystoma multiplex and oligosymptomatic pachyonychia congenita of the Jackson-Sertoli type. (9267753)
1997
34
Mutation of a type II keratin gene (K6a) in pachyonychia congenita. (7545493)
1995
35
Jadassohn-Lewandowski syndrome (pachyonychia congenita). (7640192)
1995
36
Pachyonychia congenita with late onset of nail dystrophy--a new clinical entity? (8252777)
1993
37
Pachyonychia congenita. Immunohistologic findings. (1722707)
1991
38
Pachyonychia congenita with tuberous sclerosis. (2753588)
1989
39
Control of plantar blisters in pachyonychia congenita with topical aluminium chloride. (3355787)
1988
40
Pachyonychia congenita with cutaneous amyloidosis and hyperpigmentation--a distinct variant. (3584576)
1987
41
Failure of etretinate therapy in pachyonychia congenita. (2958080)
1987
42
Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome. (3954955)
1986
43
Pachyonychia congenita. (3701085)
1986
44
Pachyonychia congenita with patent ductus arteriosus. (6386920)
1984
45
Pachyonychia Congenita (Jadassohn-Lewandowsky syndrome): a seventeen-member, four-generation pedigree with unusual respiratory and dental involvement. (6829608)
1983
46
Treatment of pachyonychia congenita with phenytoin. (6895850)
1982
47
Pachyonychia congenita (Jadassohn-Lewandowski syndrome: case report. (577013)
1977
48
Pachyonychia congenita with recessive inheritance. (856060)
1977
49
Pachyonychia congenita. (13874325)
1962
50
Oral lesions accompanying pachyonychia congenita. (13553304)
1958

Genetic Variations for Pachyonychia Congenita

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Pachyonychia Congenita:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
4Cell Signaling Technology, 12EMD Millipore
See all sources

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

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 24HMDB
See all sources

Compounds related to Pachyonychia Congenita according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dithranol459.7FLG, KRT16
2acitretin45 1110.6KRT17, KRT5
3calcipotriol45 60 29 1112.5KRT5, KRT16, FLG
4retinoid459.0KRT17, KRT2, KRT5, KRT16, FLG
5retinoic acid45 249.9KRT17, KRT2, KRT5, KRT16, FLG

GO Terms for genes affiliated with Pachyonychia Congenita

Sources:
16Gene Ontology
See all sources

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:0052008.2KRT17, KRT16, KRT5, KRT2, KRT6A, KRT6B
2structural molecule activityGO:0051987.6KRTAP11-1, KRT72, KRT81, KRT86, KRT6C, FLG

Products for genes affiliated with Pachyonychia Congenita

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pachyonychia Congenita

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet