MCID: KRT034

Krt6a-Related Pachyonychia Congenita malady

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

Aliases & Classifications for Krt6a-Related Pachyonychia Congenita

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Aliases & Descriptions for Krt6a-Related Pachyonychia Congenita:

Name: Krt6a-Related Pachyonychia Congenita 22
 
Pc-K6a 22 24

Classifications:



Summaries for Krt6a-Related Pachyonychia Congenita

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MalaCards based summary: Krt6a-Related Pachyonychia Congenita, also known as pc-k6a, is related to pachyonychia congenita. An important gene associated with Krt6a-Related Pachyonychia Congenita is KRT6A (Keratin 6A). Affiliated tissues include skin.

Related Diseases for Krt6a-Related Pachyonychia Congenita

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Diseases in the Pachyonychia Congenita family:

Pachyonychia Congenita 3 Pachyonychia Congenita 4
Pachyonychia Congenita 1 Pachyonychia Congenita 2
Krt16-Related Pachyonychia Congenita Krt17-Related Pachyonychia Congenita
krt6a-related pachyonychia congenita Krt6b-Related Pachyonychia Congenita

Diseases related to Krt6a-Related Pachyonychia Congenita via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pachyonychia congenita10.4

Symptoms for Krt6a-Related Pachyonychia Congenita

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Drugs & Therapeutics for Krt6a-Related Pachyonychia Congenita

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Krt6a-Related Pachyonychia Congenita

Genetic Tests for Krt6a-Related Pachyonychia Congenita

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Genetic tests related to Krt6a-Related Pachyonychia Congenita:

id Genetic test Affiliating Genes
1 Krt6a-Related Pachyonychia Congenita22 KRT6A

Anatomical Context for Krt6a-Related Pachyonychia Congenita

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MalaCards organs/tissues related to Krt6a-Related Pachyonychia Congenita:

33
Skin

Animal Models for Krt6a-Related Pachyonychia Congenita or affiliated genes

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Publications for Krt6a-Related Pachyonychia Congenita

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Variations for Krt6a-Related Pachyonychia Congenita

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Clinvar genetic disease variations for Krt6a-Related Pachyonychia Congenita:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRT6ANM_005554.3(KRT6A): c.516_518delCAA (p.Asn172del)deletionPathogenicrs606231214GRCh37Chr 12, 52886455: 52886457
2KRT6ANM_005554.3(KRT6A): c.520T> G (p.Phe174Val)single nucleotide variantPathogenicrs28933087GRCh37Chr 12, 52886453: 52886453
3KRT6ANM_005554.3(KRT6A): c.1414G> A (p.Glu472Lys)single nucleotide variantPathogenicrs60554162GRCh37Chr 12, 52882122: 52882122
4KRT6ANM_005554.3(KRT6A): c.1406T> G (p.Leu469Arg)single nucleotide variantPathogenicrs57052654GRCh37Chr 12, 52882130: 52882130
5KRT6ANM_005554.3(KRT6A): c.1406T> C (p.Leu469Pro)single nucleotide variantPathogenicrs57052654GRCh37Chr 12, 52882130: 52882130
6KRT6ANM_005554.3(KRT6A): c.511A> G (p.Asn171Asp)single nucleotide variantPathogenicrs62635294GRCh37Chr 12, 52886462: 52886462
7KRT6ANM_005554.3(KRT6A): c.511A> T (p.Asn171Tyr)single nucleotide variantPathogenicrs62635294GRCh37Chr 12, 52886462: 52886462
8KRT6ANM_005554.3(KRT6A): c.512A> G (p.Asn171Ser)single nucleotide variantPathogenicrs58556099GRCh37Chr 12, 52886461: 52886461
9KRT6ANM_005554.3(KRT6A): c.513C> A (p.Asn171Lys)single nucleotide variantPathogenicrs59685571GRCh37Chr 12, 52886460: 52886460
10KRT6ANM_005554.3(KRT6A): c.521T> C (p.Phe174Ser)single nucleotide variantPathogenicrs61145796GRCh37Chr 12, 52886452: 52886452

Expression for genes affiliated with Krt6a-Related Pachyonychia Congenita

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Search GEO for disease gene expression data for Krt6a-Related Pachyonychia Congenita.

Pathways for genes affiliated with Krt6a-Related Pachyonychia Congenita

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GO Terms for genes affiliated with Krt6a-Related Pachyonychia Congenita

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Sources for Krt6a-Related Pachyonychia Congenita

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet