MCID: KRT034
MIFTS: 9

Krt6a-Related Pachyonychia Congenita malady

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

Aliases & Classifications for Krt6a-Related Pachyonychia Congenita

Aliases & Descriptions for Krt6a-Related Pachyonychia Congenita:

Name: Krt6a-Related Pachyonychia Congenita 24
Pc-K6a 24 29

Classifications:



Summaries for Krt6a-Related Pachyonychia Congenita

MalaCards based summary : Krt6a-Related Pachyonychia Congenita, also known as pc-k6a, is related to pachyonychia congenita 1. An important gene associated with Krt6a-Related Pachyonychia Congenita is KRT6A (Keratin 6A).

Related Diseases for Krt6a-Related Pachyonychia Congenita

Diseases in the Pachyonychia Congenita 1 family:

Pachyonychia Congenita 3 Pachyonychia Congenita 4
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:

id Related Disease Score Top Affiliating Genes
1 pachyonychia congenita 1 10.9

Symptoms & Phenotypes for Krt6a-Related Pachyonychia Congenita

Drugs & Therapeutics for Krt6a-Related Pachyonychia Congenita

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

Genetic Tests for Krt6a-Related Pachyonychia Congenita

Genetic tests related to Krt6a-Related Pachyonychia Congenita:

id Genetic test Affiliating Genes
1 Pc-K6a 29
2 Krt6a-Related Pachyonychia Congenita 24 KRT6A

Anatomical Context for Krt6a-Related Pachyonychia Congenita

Publications for Krt6a-Related Pachyonychia Congenita

Variations for Krt6a-Related Pachyonychia Congenita

ClinVar genetic disease variations for Krt6a-Related Pachyonychia Congenita:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT6A NM_005554.3(KRT6A): c.516_518delCAA (p.Asn172del) deletion Pathogenic rs606231214 GRCh37 Chromosome 12, 52886455: 52886457
2 KRT6A NM_005554.3(KRT6A): c.520T> G (p.Phe174Val) single nucleotide variant Pathogenic rs28933087 GRCh37 Chromosome 12, 52886453: 52886453
3 KRT6A NM_005554.3(KRT6A): c.1414G> A (p.Glu472Lys) single nucleotide variant Pathogenic rs60554162 GRCh37 Chromosome 12, 52882122: 52882122
4 KRT6A NM_005554.3(KRT6A): c.1406T> G (p.Leu469Arg) single nucleotide variant Pathogenic rs57052654 GRCh37 Chromosome 12, 52882130: 52882130
5 KRT6A NM_005554.3(KRT6A): c.1406T> C (p.Leu469Pro) single nucleotide variant Pathogenic rs57052654 GRCh37 Chromosome 12, 52882130: 52882130
6 KRT6A NM_005554.3(KRT6A): c.511A> G (p.Asn171Asp) single nucleotide variant Pathogenic rs62635294 GRCh37 Chromosome 12, 52886462: 52886462
7 KRT6A NM_005554.3(KRT6A): c.511A> T (p.Asn171Tyr) single nucleotide variant Pathogenic rs62635294 GRCh37 Chromosome 12, 52886462: 52886462
8 KRT6A NM_005554.3(KRT6A): c.512A> G (p.Asn171Ser) single nucleotide variant Pathogenic rs58556099 GRCh37 Chromosome 12, 52886461: 52886461
9 KRT6A NM_005554.3(KRT6A): c.513C> A (p.Asn171Lys) single nucleotide variant Pathogenic rs59685571 GRCh37 Chromosome 12, 52886460: 52886460
10 KRT6A NM_005554.3(KRT6A): c.521T> C (p.Phe174Ser) single nucleotide variant Pathogenic rs61145796 GRCh37 Chromosome 12, 52886452: 52886452
11 KRT6A NM_005554.3(KRT6A): c.1460-2A> C single nucleotide variant Pathogenic rs113369052 GRCh37 Chromosome 12, 52881741: 52881741

Expression for Krt6a-Related Pachyonychia Congenita

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

Pathways for Krt6a-Related Pachyonychia Congenita

GO Terms for Krt6a-Related Pachyonychia Congenita

Sources for Krt6a-Related Pachyonychia Congenita

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