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 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 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)
  • 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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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:00053818.7KRT17, KRT6B, KRT6A, KRT5, KRT16, PCSK5
2MP:00107718.1FLG, KRT16, KRT5, KRT2, KRT6A, KRT6B
3MP:00053827.8KRT17, FLG, PCSK5, KRT16, KRT5, KRT2

Publications for Pachyonychia Congenita

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50PubMed
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Articles related to Pachyonychia Congenita:

(show top 50)    (show all 215)
idTitleAuthorsYear
1
A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2. (23278621)
2013
2
Pachyonychia Congenita in Pediatric Patients: Natural History, Features, and Impact. (24132595)
2013
3
A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. (22264670)
2012
4
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
5
An appraisal of oral retinoids in the treatment of pachyonychia congenita. (21601946)
2012
6
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. (21160496)
2011
7
Do you know this syndrome? Pachyonychia congenita. (22281922)
2011
8
Pachyonychia congenita type 2. (20854451)
2011
9
Pachyonychia congenita: cast in translation. (21494233)
2011
10
The phenotypic and molecular genetic features of pachyonychia congenita. (21430705)
2011
11
Pachyonychia congenita with laryngeal obstruction. (21554383)
2011
12
Persistent hoarseness in a patient with pachyonychia congenita: an early sign of laryngeal involvement. (20415676)
2009
13
Pachyonychia congenita type 1 with skeletal abnormalities. (19251576)
2009
14
Therapeutic interference: a step closer for pachyonychia congenita? (18071332)
2008
15
Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2. (18347808)
2008
16
Pachyonychia congenita type 2: abnormal dentition extending into adulthood. (18547314)
2008
17
A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb. (18547302)
2008
18
Development of therapeutic siRNAs for pachyonychia congenita. (17762855)
2008
19
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. (17719747)
2007
20
Challenges in developing therapies for rare diseases including pachyonychia congenita. (16250210)
2005
21
Images in neonatal Medicine. Pachyonychia congenita. (15321974)
2004
22
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. (11886499)
2001
23
A new type of pachyonychia congenita. (11358721)
2001
24
Novel keratin 17 mutations in pachyonychia congenita type 2. (11348474)
2001
25
Avoiding Pachyonychia congenita using oocyte donation. (10026421)
1999
26
Pachyonychia congenita. Keratin gene mutations with pleiotropic effect]. (10464680)
1999
27
Pachyonychia congenita with steatocystoma multiplex. A report of two cases and a discussion of the classification. (9649680)
1998
28
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. (9008238)
1997
29
Diagnosis and management of laryngeal obstruction in childhood pachyonychia congenita. (7729988)
1995
30
Pachyonychia congenita tarda. (7671418)
1995
31
Pachyonychia congenita (Jadassohn-Lewandowsky syndrome)--evaluation of symptoms in 36 patients. (8470932)
1993
32
Pachyonychia congenita tarda. A late-onset form of pachyonychia congenita. (1827243)
1991
33
Pachyonychia congenita complicated by hidradenitis suppurativa: a family study. (2248894)
1990
34
Pachyonychia congenita (a case report). (2634763)
1989
35
Pachyonychia congenita in an 11 year old female. (2965237)
1987
36
The pachyonychia congenita syndrome. (6153833)
1980
37
Cornoid lamella in pachyonychia congenita. (736589)
1978
38
Pachyonychia congenita Jadassohn-Lewandowsky: a disorder of keratinization. (74170)
1977
39
Pachyonychia congenita (Jadassohn-Lewandowsky) and Kyrle's disease in the same patient. (914419)
1977
40
Pachyonychia congenita (a case report). (1002268)
1976
41
Pachyonychia congenita. A clinical, histological and microradiographic study with special reference to oral manifestations. (52976)
1975
42
Pachyonychia congenita. A histologic and microradiographic study. (4124014)
1973
43
Pachyonychia congenita with epidermal cysts and teeth at birth: 4th generation. (5108274)
1971
44
Pachyonychia congenita: a case report. (5652815)
1968
45
Pachyonychia congenita--favourable response to sodium laevothyroxine. (6064943)
1967
46
Pachyonychia congenita in six generations. (5586605)
1967
47
Pachyonychia congenita. (5954882)
1966
48
Report of a case of pachyonychia congenita. (13544611)
1958
49
Pachyonychia congenita; report of two cases, with studies on therapy. (20247744)
1947
50
Pachyonychia Congenita (Jadassohn and Lewandowski). (19991775)
1939

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

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