Entry Search - 148041 148042 148067 148069 167200 167210 612315 615726 615728 615735

Search: '148041 148042 148067 148069 167200 167210 612315 615726 615728 615735 (Search in: MIM number)'

Results: 10 entries.

* 612315. KERATIN 6C, TYPE II; KRT6C
Cytogenetic location: 12q13.13, Genomic coordinates (GRCh38): 12:52,468,516-52,473,805
Matching terms: 612315
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12q13.13	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	615735	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00002055 WBGene00002056	Cellular Pathways Reactome

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# 615726. PACHYONYCHIA CONGENITA 3; PC3
Cytogenetic location: 12q13.13
Matching terms: 615726
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
12q13.13	Pachyonychia congenita 3	615726	AD	3	KRT6A	148041

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Pachyonychia congenita - PS167200 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
12q13.13	Pachyonychia congenita 4	AD	3	615728	KRT6B	148042
12q13.13	Pachyonychia congenita 3	AD	3	615726	KRT6A	148041
17q21.2	Pachyonychia congenita 1	AD	3	167200	KRT16	148067
17q21.2	Pachyonychia congenita 2	AD	3	167210	KRT17	148069
Not Mapped	Pachyonychia congenita, autosomal recessive	AR		260130	PACHYR	260130

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models OMIA

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ICD+
ORPHA: 2309

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# 615728. PACHYONYCHIA CONGENITA 4; PC4
Cytogenetic location: 12q13.13
Matching terms: 615728
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
12q13.13	Pachyonychia congenita 4	615728	AD	3	KRT6B	148042

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Pachyonychia congenita - PS167200 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
12q13.13	Pachyonychia congenita 4	AD	3	615728	KRT6B	148042
12q13.13	Pachyonychia congenita 3	AD	3	615726	KRT6A	148041
17q21.2	Pachyonychia congenita 1	AD	3	167200	KRT16	148067
17q21.2	Pachyonychia congenita 2	AD	3	167210	KRT17	148069
Not Mapped	Pachyonychia congenita, autosomal recessive	AR		260130	PACHYR	260130

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews MedlinePlus Genetics GTR OrphaNet

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ICD+
ORPHA: 2309

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# 615735. PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE; PPKNEFD
Cytogenetic location: 12q13.13
Matching terms: 615735
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
12q13.13	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	615735	AD	3	KRT6C	612315

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 402003 DO: 0111710

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* 148041. KERATIN 6A, TYPE II; KRT6A
Cytogenetic location: 12q13.13, Genomic coordinates (GRCh38): 12:52,487,176-52,493,257
Matching terms: 148041
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12q13.13	Pachyonychia congenita 3	615726	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene WBGene00002055 WBGene00002056	Cellular Pathways Reactome

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* 148042. KERATIN 6B, TYPE II; KRT6B
Cytogenetic location: 12q13.13, Genomic coordinates (GRCh38): 12:52,446,651-52,452,146
Matching terms: 148042
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12q13.13	Pachyonychia congenita 4	615728	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00002055 WBGene00002056	Cellular Pathways Reactome

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* 148067. KERATIN 16, TYPE I; KRT16
Cytogenetic location: 17q21.2, Genomic coordinates (GRCh38): 17:41,609,778-41,612,767
Matching terms: 148067
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
17q21.2	Pachyonychia congenita 1	167200	AD	3
17q21.2	Palmoplantar keratoderma, nonepidermolytic, focal	613000	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 39427000

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* 148069. KERATIN 17, TYPE I; KRT17
Cytogenetic location: 17q21.2, Genomic coordinates (GRCh38): 17:41,619,442-41,624,575
Matching terms: 148069
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
17q21.2	Pachyonychia congenita 2	167210	AD	3
17q21.2	Steatocystoma multiplex	184500	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 109433009 ICD10CM: L72.2

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# 167200. PACHYONYCHIA CONGENITA 1; PC1
Cytogenetic location: 17q21.2
Matching terms: 167200
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
17q21.2	Pachyonychia congenita 1	167200	AD	3	KRT16	148067

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Pachyonychia congenita - PS167200 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
12q13.13	Pachyonychia congenita 4	AD	3	615728	KRT6B	148042
12q13.13	Pachyonychia congenita 3	AD	3	615726	KRT6A	148041
17q21.2	Pachyonychia congenita 1	AD	3	167200	KRT16	148067
17q21.2	Pachyonychia congenita 2	AD	3	167210	KRT17	148069
Not Mapped	Pachyonychia congenita, autosomal recessive	AR		260130	PACHYR	260130

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet POSSUM

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ICD+
SNOMEDCT: 39427000 ORPHA: 2309

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10:

# 167210. PACHYONYCHIA CONGENITA 2; PC2
Cytogenetic location: 17q21.2
Matching terms: 167210
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
17q21.2	Pachyonychia congenita 2	167210	AD	3	KRT17	148069

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Pachyonychia congenita - PS167200 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
12q13.13	Pachyonychia congenita 4	AD	3	615728	KRT6B	148042
12q13.13	Pachyonychia congenita 3	AD	3	615726	KRT6A	148041
17q21.2	Pachyonychia congenita 1	AD	3	167200	KRT16	148067
17q21.2	Pachyonychia congenita 2	AD	3	167210	KRT17	148069
Not Mapped	Pachyonychia congenita, autosomal recessive	AR		260130	PACHYR	260130

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet

▲ Close

ICD+
ORPHA: 2309

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Search: 148041 148042 148067 148069 167200 167210 612315 615726 615728 615735 (Search in: MIM number)

Results: 10 entries.

* 612315. KERATIN 6C, TYPE II; KRT6C
Cytogenetic location: 12q13.13, Genomic coordinates (GRCh38): 12:52,468,516-52,473,805
Matching terms: 612315

# 615726. PACHYONYCHIA CONGENITA 3; PC3
Cytogenetic location: 12q13.13
Matching terms: 615726

# 615728. PACHYONYCHIA CONGENITA 4; PC4
Cytogenetic location: 12q13.13
Matching terms: 615728

# 615735. PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE; PPKNEFD
Cytogenetic location: 12q13.13
Matching terms: 615735

* 148041. KERATIN 6A, TYPE II; KRT6A
Cytogenetic location: 12q13.13, Genomic coordinates (GRCh38): 12:52,487,176-52,493,257
Matching terms: 148041

* 148042. KERATIN 6B, TYPE II; KRT6B
Cytogenetic location: 12q13.13, Genomic coordinates (GRCh38): 12:52,446,651-52,452,146
Matching terms: 148042

* 148067. KERATIN 16, TYPE I; KRT16
Cytogenetic location: 17q21.2, Genomic coordinates (GRCh38): 17:41,609,778-41,612,767
Matching terms: 148067

* 148069. KERATIN 17, TYPE I; KRT17
Cytogenetic location: 17q21.2, Genomic coordinates (GRCh38): 17:41,619,442-41,624,575
Matching terms: 148069

# 167200. PACHYONYCHIA CONGENITA 1; PC1
Cytogenetic location: 17q21.2
Matching terms: 167200

10:

# 167210. PACHYONYCHIA CONGENITA 2; PC2
Cytogenetic location: 17q21.2
Matching terms: 167210

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