PC2
MCID: PCH012
MIFTS: 42

Pachyonychia Congenita 2 (PC2)

Categories: Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Pachyonychia Congenita 2

MalaCards integrated aliases for Pachyonychia Congenita 2:

Name: Pachyonychia Congenita 2 57 72 29 6
Pachyonychia Congenita, Type 2 54 39 70
Pc2 57 72
Pachyonychia Congenita, Jackson-Lawler Type, Formerly 57
Pachyonychia Congenita Jackson-Lawler Type 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

31
pachyonychia congenita 2:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



Summaries for Pachyonychia Congenita 2

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. (167210) (Updated 20-May-2021)

MalaCards based summary : Pachyonychia Congenita 2, also known as pachyonychia congenita, type 2, is related to pachyonychia congenita 1 and steatocystoma multiplex, and has symptoms including hoarseness An important gene associated with Pachyonychia Congenita 2 is KRT17 (Keratin 17), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. Affiliated tissues include kidney, pituitary and lung, and related phenotypes are sparse scalp hair and hoarse voice

UniProtKB/Swiss-Prot : 72 Pachyonychia congenita 2: An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth.

Related Diseases for Pachyonychia Congenita 2

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 pachyonychia congenita 1 31.8 KRT6B KRT17 KRT16
2 steatocystoma multiplex 31.2 KRT6B KRT17 KRT16
3 keratosis 30.4 KRT17 KRT16
4 ectodermal dysplasia 30.1 KRT17 KRT16
5 palmoplantar keratoderma, nonepidermolytic 30.1 KRT17 KRT16
6 epidermolysis bullosa 29.9 KRT17 KRT16
7 epidermolysis bullosa simplex 29.9 KRT17 KRT16
8 palmoplantar keratoderma, nonepidermolytic, focal 1 29.8 KRT6B KRT16
9 palmoplantar keratosis 29.6 KRT6B KRT17 KRT16
10 focal palmoplantar keratoderma 29.4 KRT6B KRT17 KRT16
11 teeth present at birth 10.5
12 insulinoma 10.4
13 epidermoid cysts 10.4
14 vaccinia 10.4
15 polycystic kidney disease 10.2
16 pheochromocytoma 10.1
17 prostate cancer, hereditary, 2 10.1
18 pituitary adenoma 10.1
19 pituitary tumors 10.1
20 pachyonychia congenita 4 10.1
21 erythrokeratoderma ''en cocardes'' 10.1
22 pili torti 10.1
23 rare genetic skin disease 10.1
24 triiodothyronine receptor auxiliary protein 10.1
25 autosomal dominant polycystic kidney disease 10.1
26 carcinoid tumors, intestinal 10.0
27 small cell carcinoma 10.0
28 hypothyroidism 10.0
29 embryonal carcinoma 10.0
30 kidney disease 10.0
31 hyperthyroidism 10.0
32 tinea corporis 9.9 KRT17 KRT16
33 eccrine papillary adenoma 9.9 KRT17 KRT16
34 borst-jadassohn intraepidermal carcinoma 9.9 KRT17 KRT16
35 keratoacanthoma 9.9 KRT17 KRT16
36 primary cutaneous amyloidosis 9.8 KRT17 KRT16
37 thyroid carcinoma, familial medullary 9.8
38 prader-willi syndrome 9.8
39 dowling-degos disease 1 9.8
40 velocardiofacial syndrome 9.8
41 wolfram syndrome 1 9.8
42 3-methylglutaconic aciduria, type iii 9.8
43 hypophosphatemic rickets, x-linked dominant 9.8
44 suppression of tumorigenicity 12 9.8
45 pachyonychia congenita 3 9.8
46 hyperproinsulinemia 9.8
47 hypophosphatemia 9.8
48 adrenal gland pheochromocytoma 9.8
49 pain agnosia 9.8
50 rapidly involuting congenital hemangioma 9.8

Graphical network of the top 20 diseases related to Pachyonychia Congenita 2:



Diseases related to Pachyonychia Congenita 2

Symptoms & Phenotypes for Pachyonychia Congenita 2

Human phenotypes related to Pachyonychia Congenita 2:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 sparse scalp hair 31 HP:0002209
2 hoarse voice 31 HP:0001609
3 nail dysplasia 31 HP:0002164
4 nail dystrophy 31 HP:0008404
5 subungual hyperkeratosis 31 HP:0008392
6 palmoplantar hyperkeratosis 31 HP:0000972
7 epidermoid cyst 31 HP:0200040
8 dry hair 31 HP:0011359
9 natal tooth 31 HP:0000695
10 steatocystoma multiplex 31 HP:0012035
11 palmoplantar hyperhidrosis 31 HP:0007410
12 folliculitis 31 HP:0025084
13 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Voice:
hoarse voice

Skin Nails Hair Skin:
palmoplantar hyperkeratosis
palmoplantar hyperhidrosis
epidermoid cysts
folliculitis (back, axilla, pubic region)

Head And Neck Mouth:
no oral leukoplakia

Skin Nails Hair Hair:
dry, sparse scalp hair
absent/sparse eyebrows

Skin Nails Hair Nails:
nail dystrophy
subungual keratosis

Head And Neck Eyes:
sparse eyebrows

Head And Neck Teeth:
neonatal teeth

Clinical features from OMIM®:

167210 (Updated 20-May-2021)

UMLS symptoms related to Pachyonychia Congenita 2:


hoarseness

MGI Mouse Phenotypes related to Pachyonychia Congenita 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 KRT16 KRT17 KRT6B
2 digestive/alimentary MP:0005381 9.13 KRT16 KRT17 KRT6B
3 integument MP:0010771 8.8 KRT16 KRT17 KRT6B

Drugs & Therapeutics for Pachyonychia Congenita 2

Search Clinical Trials , NIH Clinical Center for Pachyonychia Congenita 2

Genetic Tests for Pachyonychia Congenita 2

Genetic tests related to Pachyonychia Congenita 2:

# Genetic test Affiliating Genes
1 Pachyonychia Congenita 2 29 KRT17

Anatomical Context for Pachyonychia Congenita 2

MalaCards organs/tissues related to Pachyonychia Congenita 2:

40
Kidney, Pituitary, Lung, Thyroid, Adrenal Gland, Breast, Skin

Publications for Pachyonychia Congenita 2

Articles related to Pachyonychia Congenita 2:

(show all 40)
# Title Authors PMID Year
1
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. 57 6 61 54
11886499 2001
2
A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. 6 57
7529318 1994
3
Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome. 57 6
3954955 1986
4
Novel keratin 17 mutations in pachyonychia congenita type 2. 6 61 54
11348474 2001
5
Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2. 61 6 54
10571744 1999
6
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. 6 61 54
9767294 1998
7
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. 54 61 57
9618173 1998
8
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. 54 6 61
9008238 1997
9
A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2. 61 6
11874497 2002
10
Pachyonychia congenita in pediatric patients: natural history, features, and impact. 57
24132595 2014
11
A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. 57
22264670 2012
12
The phenotypic and molecular genetic features of pachyonychia congenita. 57
21430705 2011
13
Keratin 16 and keratin 17 mutations cause pachyonychia congenita. 57
7539673 1995
14
Pachyonychia congenita complicated by hidradenitis suppurativa: a family study. 6
2248894 1990
15
Pachyonychia congenita. 57
3053803 1988
16
Pachyonychia congenita and steatocystoma multiplex. 57
577197 1977
17
Steatocystoma multiplex with pachyonychia congenita. Eight cases in four generations. 57
13926103 1961
18
Pachyonychia congenita; a report of six cases in one family, with a note on linkage data. 57
14885876 1951
19
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. 61 54
18547302 2008
20
Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2. 54 61
18347808 2008
21
Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity. 54 61
16620218 2006
22
Identification of a recurrent mutation in keratin 17 in a Japanese family with pachyonychia congenita type 2. 54 61
15795125 2005
23
Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts. 54 61
12653736 2003
24
Pachyonychia congenita type 2: keratin 17 mutation in a Japanese case. 54 61
9632020 1998
25
Human keratin diseases: hereditary fragility of specific epithelial tissues. 61 54
9028791 1996
26
Identification of a novel substitution mutation (R103C) in the rod domain of the keratin 17 gene associated with pachyonychia congenita type 2. 61
29904921 2019
27
[Clinical and molecular findings of pachyonychia congenita type 2 (PC-2)]. 61
25946540 2015
28
Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2. 61
23855588 2013
29
Pachyonychia congenita type 2: an unusual presentation. 61
23249838 2013
30
Pachyonychia congenita type 2 (Jackson-Lawler syndrome) or PC-17: case report. 61
23683487 2013
31
A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2. 61
23278621 2013
32
Pachyonychia congenita type 2. 61
20854451 2011
33
[Keratin 17 mutation in pachyonychia congenita type 2 in a Chinese Han family]. 61
21287500 2011
34
Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view. 61
19107515 2009
35
Pachyonychia congenita type 2. 61
19439901 2009
36
Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation. 61
19120334 2009
37
Pachyonychia congenita type 2: abnormal dentition extending into adulthood. 61
18547314 2008
38
A novel mutation in K6b in pachyonychia congenita type 2. 61
17429440 2007
39
A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2. 61
15102078 2004
40
[Pachyonychia congenita type 2 due to mutation in the keratin 6b gene]. 61
10979817 2000

Variations for Pachyonychia Congenita 2

ClinVar genetic disease variations for Pachyonychia Congenita 2:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT17 NM_000422.3(KRT17):c.274A>G (p.Asn92Asp) SNV Pathogenic 14586 rs28928896 GRCh37: 17:39780488-39780488
GRCh38: 17:41624236-41624236
2 KRT17 NM_000422.3(KRT17):c.292T>G (p.Tyr98Asp) SNV Pathogenic 14588 rs28933088 GRCh37: 17:39780470-39780470
GRCh38: 17:41624218-41624218
3 KRT17 NM_000422.3(KRT17):c.263T>C (p.Met88Thr) SNV Pathogenic 14592 rs28928898 GRCh37: 17:39780499-39780499
GRCh38: 17:41624247-41624247
4 KRT17 NM_000422.3(KRT17):c.281_295del (p.Arg94_Tyr98del) Deletion Pathogenic 14593 rs57674130 GRCh37: 17:39780467-39780481
GRCh38: 17:41624215-41624229
5 KRT17 NM_000422.3(KRT17):c.281G>C (p.Arg94Pro) SNV Pathogenic 14594 rs28928897 GRCh37: 17:39780481-39780481
GRCh38: 17:41624229-41624229
6 KRT17 NM_000422.3(KRT17):c.284T>A (p.Leu95Gln) SNV Pathogenic 14595 rs28928899 GRCh37: 17:39780478-39780478
GRCh38: 17:41624226-41624226
7 KRT17 NM_000422.3(KRT17):c.284T>C (p.Leu95Pro) SNV Pathogenic 14596 rs28928899 GRCh37: 17:39780478-39780478
GRCh38: 17:41624226-41624226
8 KRT17 NM_000422.3(KRT17):c.287_289CCT[1] (p.Ser97del) Microsatellite Pathogenic 265321 rs121912478 GRCh37: 17:39780470-39780472
GRCh38: 17:41624218-41624220
9 KRT17 NM_000422.3(KRT17):c.296T>C (p.Leu99Pro) SNV Pathogenic 14598 rs28933089 GRCh37: 17:39780466-39780466
GRCh38: 17:41624214-41624214
10 KRT17 NM_000422.3(KRT17):c.304G>A (p.Val102Met) SNV Pathogenic 14599 rs59977263 GRCh37: 17:39780458-39780458
GRCh38: 17:41624206-41624206
11 KRT17 NM_000422.3(KRT17):c.281G>A (p.Arg94His) SNV Pathogenic 14590 rs28928897 GRCh37: 17:39780481-39780481
GRCh38: 17:41624229-41624229
12 KRT17 NM_000422.3(KRT17):c.280C>T (p.Arg94Cys) SNV Pathogenic 14591 rs58730926 GRCh37: 17:39780482-39780482
GRCh38: 17:41624230-41624230
13 KRT17 NM_000422.3(KRT17):c.472C>T (p.Gln158Ter) SNV Pathogenic 997575 GRCh37: 17:39779245-39779245
GRCh38: 17:41622993-41622993
14 KRT17 NM_000422.3(KRT17):c.1204+1G>A SNV Pathogenic 1031564 GRCh37: 17:39776787-39776787
GRCh38: 17:41620535-41620535
15 KRT17 NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) SNV Pathogenic 14587 rs59151893 GRCh37: 17:39780487-39780487
GRCh38: 17:41624235-41624235
16 KRT6B NM_005555.4(KRT6B):c.332G>A (p.Gly111Asp) SNV Benign 518252 rs61745883 GRCh37: 12:52845531-52845531
GRCh38: 12:52451747-52451747

UniProtKB/Swiss-Prot genetic disease variations for Pachyonychia Congenita 2:

72 (show all 15)
# Symbol AA change Variation ID SNP ID
1 KRT17 p.Asn92Asp VAR_003847 rs28928896
2 KRT17 p.Asn92Ser VAR_003849 rs59151893
3 KRT17 p.Tyr98Asp VAR_003851 rs28933088
4 KRT17 p.Met88Thr VAR_010512 rs28928898
5 KRT17 p.Arg94Cys VAR_010513 rs58730926
6 KRT17 p.Arg94Pro VAR_017068 rs28928897
7 KRT17 p.Leu95Gln VAR_017070 rs28928899
8 KRT17 p.Leu95Pro VAR_017071 rs28928899
9 KRT17 p.Leu99Pro VAR_017073 rs28933089
10 KRT17 p.Val102Met VAR_017074 rs59977263
11 KRT17 p.Asn109Asp VAR_037083 rs267607412
12 KRT17 p.Met88Lys VAR_072441 rs28928898
13 KRT17 p.Leu91Pro VAR_072442
14 KRT17 p.Leu388Pro VAR_072444 rs56690581
15 KRT17 p.Leu388Arg VAR_072445

Expression for Pachyonychia Congenita 2

Search GEO for disease gene expression data for Pachyonychia Congenita 2.

Pathways for Pachyonychia Congenita 2

Pathways related to Pachyonychia Congenita 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 KRT6B KRT17 KRT16
2 11.86 KRT6B KRT17
3 11.4 KRT17 KRT16
4
Show member pathways
11.25 KRT6B KRT17 KRT16
5
Show member pathways
11.19 KRT17 KRT16
6 10.94 KRT17 KRT16

GO Terms for Pachyonychia Congenita 2

Cellular components related to Pachyonychia Congenita 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.8 KRT6B KRT17 KRT16

Biological processes related to Pachyonychia Congenita 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.26 KRT6B KRT16
2 morphogenesis of an epithelium GO:0002009 9.16 KRT17 KRT16
3 keratinization GO:0031424 9.13 KRT6B KRT17 KRT16
4 cornification GO:0070268 8.8 KRT6B KRT17 KRT16

Molecular functions related to Pachyonychia Congenita 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.96 KRT17 KRT16
2 structural constituent of cytoskeleton GO:0005200 8.62 KRT6B KRT16

Sources for Pachyonychia Congenita 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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