PC4
MCID: PCH011
MIFTS: 26

Pachyonychia Congenita 4 (PC4)

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

Aliases & Classifications for Pachyonychia Congenita 4

MalaCards integrated aliases for Pachyonychia Congenita 4:

Name: Pachyonychia Congenita 4 57 72 29 6 70
Pc4 57 72
Pachyonychia Congenita, Type 4 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
pachyonychia congenita 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615728
OMIM Phenotypic Series 57 PS167200
MeSH 44 D053549
UMLS 70 C3714949

Summaries for Pachyonychia Congenita 4

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. (615728) (Updated 05-Apr-2021)

MalaCards based summary : Pachyonychia Congenita 4, also known as pc4, is related to pheochromocytoma and small cell cancer of the lung. An important gene associated with Pachyonychia Congenita 4 is KRT6B (Keratin 6B). Affiliated tissues include tongue, and related phenotypes are palmoplantar keratoderma and nail dystrophy

UniProtKB/Swiss-Prot : 72 Pachyonychia congenita 4: An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts.

Related Diseases for Pachyonychia Congenita 4

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 pheochromocytoma 10.0
2 small cell cancer of the lung 10.0
3 lung cancer 10.0
4 adrenal gland pheochromocytoma 10.0
5 vaccinia 10.0
6 stomatitis 10.0
7 breast cancer 9.8
8 glioma susceptibility 1 9.8
9 polykaryocytosis inducer 9.8
10 enterocolitis 9.8
11 prostate cancer, hereditary, 1 9.8
12 lung cancer susceptibility 3 9.8
13 helix syndrome 9.8
14 streptococcus pneumonia 9.8
15 dextro-looped transposition of the great arteries 9.8
16 cerebral artery occlusion 9.8
17 acute interstitial pneumonia 9.8
18 adenocarcinoma 9.8
19 malignant astrocytoma 9.8
20 teratocarcinoma 9.8
21 fibrosarcoma 9.8
22 b-cell lymphoma 9.8
23 hypoplastic left heart syndrome 9.8
24 glioma 9.8
25 anoxia 9.8
26 glial tumor 9.8

Graphical network of the top 20 diseases related to Pachyonychia Congenita 4:



Diseases related to Pachyonychia Congenita 4

Symptoms & Phenotypes for Pachyonychia Congenita 4

Human phenotypes related to Pachyonychia Congenita 4:

31
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 31 HP:0000982
2 nail dystrophy 31 HP:0008404
3 steatocystoma multiplex 31 HP:0012035

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
palmoplantar keratoderma
follicular hyperkeratosis
pilosebaceous cysts
steatocystoma (post-pubertal)

Head And Neck Mouth:
oral leukokeratosis
tongue leukokeratosis

Skeletal Feet:
plantar keratoderma
plantar pain

Skin Nails Hair Nails:
pachyonychia

Skeletal:
palmar keratoderma

Clinical features from OMIM®:

615728 (Updated 05-Apr-2021)

Drugs & Therapeutics for Pachyonychia Congenita 4

Search Clinical Trials , NIH Clinical Center for Pachyonychia Congenita 4

Genetic Tests for Pachyonychia Congenita 4

Genetic tests related to Pachyonychia Congenita 4:

# Genetic test Affiliating Genes
1 Pachyonychia Congenita 4 29 KRT6B

Anatomical Context for Pachyonychia Congenita 4

MalaCards organs/tissues related to Pachyonychia Congenita 4:

40
Tongue

Publications for Pachyonychia Congenita 4

Articles related to Pachyonychia Congenita 4:

# Title Authors PMID Year
1
The molecular genetic analysis of the expanding pachyonychia congenita case collection. 6 57
24611874 2014
2
Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b. 6 57
24354895 2014
3
The genetic basis of pachyonychia congenita. 6 57
16250206 2005
4
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. 6 57
9618173 1998
5
Revisiting pachyonychia congenita: a case-cohort study of 815 patients. 57
31823354 2020
6
Pachyonychia congenita in pediatric patients: natural history, features, and impact. 57
24132595 2014
7
A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. 57
22264670 2012
8
The phenotypic and molecular genetic features of pachyonychia congenita. 57
21430705 2011
9
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. 57
11886499 2001

Variations for Pachyonychia Congenita 4

ClinVar genetic disease variations for Pachyonychia Congenita 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT6B NM_005555.4(KRT6B):c.1406T>G (p.Leu469Arg) SNV Pathogenic 816696 rs1592169234 GRCh37: 12:52841580-52841580
GRCh38: 12:52447796-52447796
2 KRT6B NM_005555.4(KRT6B):c.1414G>A (p.Glu472Lys) SNV Pathogenic 14633 rs60627726 GRCh37: 12:52841572-52841572
GRCh38: 12:52447788-52447788
3 KRT6B NM_005555.4(KRT6B):c.1335del (p.Lys446fs) Deletion Pathogenic 1031550 GRCh37: 12:52841651-52841651
GRCh38: 12:52447867-52447867
4 KRT6B NM_005555.4(KRT6B):c.913-1G>A SNV Pathogenic 1032329 GRCh37: 12:52843418-52843418
GRCh38: 12:52449634-52449634
5 KRT6B NM_005555.4(KRT6B):c.1495G>A (p.Gly499Ser) SNV Benign 802862 rs61746355 GRCh37: 12:52841174-52841174
GRCh38: 12:52447390-52447390

UniProtKB/Swiss-Prot genetic disease variations for Pachyonychia Congenita 4:

72
# Symbol AA change Variation ID SNP ID
1 KRT6B p.Glu472Lys VAR_023062 rs60627726

Expression for Pachyonychia Congenita 4

Search GEO for disease gene expression data for Pachyonychia Congenita 4.

Pathways for Pachyonychia Congenita 4

GO Terms for Pachyonychia Congenita 4

Sources for Pachyonychia Congenita 4

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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