MCID: PCH011
MIFTS: 25

Pachyonychia Congenita 4

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Pachyonychia Congenita 4

MalaCards integrated aliases for Pachyonychia Congenita 4:

Name: Pachyonychia Congenita 4 57 75 29 6 73
Pc4 57 75
Pachyonychia Congenita, Type 4 40

Characteristics:

HPO:

32
pachyonychia congenita 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615728
MeSH 44 D053549
UMLS 73 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)

MalaCards based summary : Pachyonychia Congenita 4, also known as pc4, is related to lung cancer and melanoma. An important gene associated with Pachyonychia Congenita 4 is KRT6B (Keratin 6B). The drugs Gemcitabine and Pancrelipase have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and heart, and related phenotypes are palmoplantar keratoderma and nail dystrophy

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 lung cancer 9.9
2 melanoma 9.9
3 astrocytoma 9.9

Symptoms & Phenotypes for Pachyonychia Congenita 4

Clinical features from OMIM:

615728

Human phenotypes related to Pachyonychia Congenita 4:

32
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 HP:0000982
2 nail dystrophy 32 HP:0008404
3 steatocystoma multiplex 32 HP:0012035

Drugs & Therapeutics for Pachyonychia Congenita 4

Drugs for Pachyonychia Congenita 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gemcitabine Approved Phase 3 95058-81-4 60750
2
Pancrelipase Approved, Investigational Phase 3 53608-75-6
3 Anti-Infective Agents Phase 3,Phase 1
4 Antimetabolites Phase 3
5 Antimetabolites, Antineoplastic Phase 3
6 Antiviral Agents Phase 3,Phase 1
7 Gastrins Phase 3
8 Hormone Antagonists Phase 3
9 Hormones Phase 3
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
11 Immunosuppressive Agents Phase 3,Phase 1
12 pancreatin Phase 3
13
Ethanol Approved Phase 2 64-17-5 702
14 Analgesics Phase 2
15
Silicon Approved, Investigational Phase 1 7440-21-3 4082203
16
Norepinephrine Approved Phase 1 51-41-2 439260
17 Antimalarials Phase 1
18 Antiparasitic Agents Phase 1
19 Antiprotozoal Agents Phase 1
20 Dermatologic Agents Phase 1
21 Micronutrients Phase 1
22 Photosensitizing Agents Phase 1
23 Silicon phthalocyanine Phase 1
24 Trace Elements Phase 1
25 Adrenergic Agents Phase 1
26 Adrenergic Agonists Phase 1
27 Adrenergic alpha-Agonists Phase 1
28 Autonomic Agents Phase 1
29 Neurotransmitter Agents Phase 1
30 Peripheral Nervous System Agents Phase 1
31 Pharmaceutical Solutions Phase 1
32 Vasoconstrictor Agents Phase 1
33 Anesthetics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of G17DT Immunogen Combined With Gemcitabine vs. Gemcitabine in the Treatment of Advanced Pancreatic Carcinoma Completed NCT00044031 Phase 3
2 Retarded Phosphatidylcholine Versus Mesalazin in Remission of Ulcerative Colitis. Withdrawn NCT00259571 Phase 2, Phase 3 retarded release phosphatidylcholine
3 Acupuncture for Whiplash Associated Disorder Completed NCT01395511 Phase 2
4 Photodynamic Therapy Using Silicon Phthalocyanine 4 in Treating Patients With Actinic Keratosis, Bowen's Disease, Skin Cancer, or Stage I or Stage II Mycosis Fungoides Completed NCT00103246 Phase 1 silicon phthalocyanine 4
5 Silicon Phthalocyanine 4 and Photodynamic Therapy in Stage IA-IIA Cutaneous T-Cell Non-Hodgkin Lymphoma Completed NCT01800838 Phase 1 silicon phthalocyanine 4;photodynamic therapy
6 Photodynamic Therapy in Treating Patients With Skin Cancer or Solid Tumors Metastatic to the Skin Terminated NCT00023790 Phase 1 silicon phthalocyanine 4
7 Exploratory Study of Norepinephrine to Prevent Radiodermatitis in Breast Cancer Patients Terminated NCT01263366 Phase 1 Norepinephrine
8 Electro-acupuncture (EA) in Children Undergoing Procedures for Congenital Heart Defects. Recruiting NCT03297658 Not Applicable
9 Effects of Transcutaneous Acupoint Electrical Stimulation on Postoperative HRV and Hs-cTnT of Elderly With CHD Recruiting NCT03418194 Not Applicable

Search 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:

41
Skin, T Cells, Heart

Publications for Pachyonychia Congenita 4

Variations for Pachyonychia Congenita 4

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

75
# Symbol AA change Variation ID SNP ID
1 KRT6B p.Glu472Lys VAR_023062 rs60627726

ClinVar genetic disease variations for Pachyonychia Congenita 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT6B NM_005555.3(KRT6B): c.1414G> A (p.Glu472Lys) single nucleotide variant Pathogenic rs60627726 GRCh37 Chromosome 12, 52841572: 52841572
2 KRT6B NM_005555.3(KRT6B): c.1414G> A (p.Glu472Lys) single nucleotide variant Pathogenic rs60627726 GRCh38 Chromosome 12, 52447788: 52447788

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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