Entry Search - 147556 147557 226730 601282 612138 619817

Search: '147556 147557 226730 601282 612138 619817 (Search in: MIM number)'

Results: 6 entries.

# 612138. EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA; EBS5C
Cytogenetic location: 8q24.3
Matching terms: 612138
► 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
8q24.3	Epidermolysis bullosa simplex 5C, with pyloric atresia	612138	AR	3	PLEC1	601282

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Epidermolysis bullosa simplex - PS131760 - 18 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q27.1	Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy	AD	3	617294	KLHL24	611295
6p12.1	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency	AR	3	615425	DST	113810
8q24.3	Epidermolysis bullosa simplex 5C, with pyloric atresia	AR	3	612138	PLEC1	601282
8q24.3	Epidermolysis bullosa simplex 5B, with muscular dystrophy	AR	3	226670	PLEC1	601282
8q24.3	?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive	AR	3	616487	PLEC1	601282
8q24.3	Epidermolysis bullosa simplex 5A, Ogna type	AD	3	131950	PLEC1	601282
11p15.5	Epidermolysis bullosa simplex 7, with nephropathy and deafness	AR	3	609057	CD151	602243
11q22.3	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	AR	3	615028	EXPH5	612878
12q13.13	Epidermolysis bullosa simplex 2C, localized	AD	3	619594	KRT5	148040
12q13.13	Epidermolysis bullosa simplex 2E, with migratory circinate erythema	AD	3	609352	KRT5	148040
12q13.13	Epidermolysis bullosa simplex 2B, generalized intermediate	AD	3	619588	KRT5	148040
12q13.13	Epidermolysis bullosa simplex 2F, with mottled pigmentation	AD	3	131960	KRT5	148040
12q13.13	Epidermolysis bullosa simplex 2A, generalized severe	AD	3	619555	KRT5	148040
12q13.13	Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive	AR	3	619599	KRT5	148040
17q21.2	Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	AR	3	601001	KRT14	148066
17q21.2	Epidermolysis bullosa simplex 1B, generalized intermediate	AD	3	131900	KRT14	148066
17q21.2	Epidermolysis bullosa simplex 1C, localized	AD	3	131800	KRT14	148066
17q21.2	Epidermolysis bullosa simplex 1A, generalized severe	AD	3	131760	KRT14	148066

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet	Animal Models OMIA

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ICD+
SNOMEDCT: 716701004 ORPHA: 158684

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# 619817. EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6
Cytogenetic location: 2q31.1
Matching terms: 619817
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
2q31.1	Epidermolysis bullosa, junctional 6, with pyloric atresia	619817	AR	3	ITGA6	147556

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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: 79403

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# 226730. EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA; JEB5B
Cytogenetic location: 17q25.1
Matching terms: 226730
► 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
17q25.1	Epidermolysis bullosa, junctional 5B, with pyloric atresia	226730	AR	3	ITGB4	147557

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Epidermolysis bullosa, junctional - PS226650 - 10 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q25.3	Epidermolysis bullosa, junctional 3A, intermediate	AR	3	619785	LAMC2	150292
1q25.3	Epidermolysis bullosa, junctional 3B, severe	AR	3	619786	LAMC2	150292
1q32.2	Epidermolysis bullosa, junctional 1B, severe	AR	3	226700	LAMB3	150310
1q32.2	Epidermolysis bullosa, junctional 1A, intermediate	AR	3	226650	LAMB3	150310
10q25.1	Epidermolysis bullosa, junctional 4, intermediate	AR	3	619787	COL17A1	113811
17q21.33	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	AR	3	614748	ITGA3	605025
17q25.1	Epidermolysis bullosa, junctional 5B, with pyloric atresia	AR	3	226730	ITGB4	147557
17q25.1	Epidermolysis bullosa, junctional 5A, intermediate	AR	3	619816	ITGB4	147557
18q11.2	Epidermolysis bullosa, junctional 2B, severe	AR	3	619784	LAMA3	600805
18q11.2	Epidermolysis bullosa, junctional 2A, intermediate	AR	3	619783	LAMA3	600805

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Junctional Epidermolysis B… Epidermolysis Bullosa with… Genetic Alliance GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
ORPHA: 79403 DO: 0060733

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* 147556. INTEGRIN, ALPHA-6; ITGA6
Cytogenetic location: 2q31.1, Genomic coordinates (GRCh38): 2:172,427,336-172,506,459
Matching terms: 147556
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q31.1	Epidermolysis bullosa, junctional 6, with pyloric atresia	619817	AR	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 FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 147557. INTEGRIN, BETA-4; ITGB4
Cytogenetic location: 17q25.1, Genomic coordinates (GRCh38): 17:75,721,459-75,757,818
Matching terms: 147557
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
17q25.1	Epidermolysis bullosa, junctional 5A, intermediate	619816	AR	3
17q25.1	Epidermolysis bullosa, junctional 5B, with pyloric atresia	226730	AR	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 FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways KEGG Reactome

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* 601282. PLECTIN; PLEC
Cytogenetic location: 8q24.3, Genomic coordinates (GRCh38): 8:143,915,153-143,976,745
Matching terms: 601282
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
8q24.3	?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive	616487	AR	3
	Epidermolysis bullosa simplex 5A, Ogna type	131950	AD	3
	Epidermolysis bullosa simplex 5B, with muscular dystrophy	226670	AR	3
	Epidermolysis bullosa simplex 5C, with pyloric atresia	612138	AR	3
	Muscular dystrophy, limb-girdle, autosomal recessive 17	613723	AR	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 ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 398071000, 716701004, 723308003, 726615005

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Search: 147556 147557 226730 601282 612138 619817 (Search in: MIM number)

Results: 6 entries.

# 612138. EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA; EBS5C
Cytogenetic location: 8q24.3
Matching terms: 612138

# 619817. EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6
Cytogenetic location: 2q31.1
Matching terms: 619817

# 226730. EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA; JEB5B
Cytogenetic location: 17q25.1
Matching terms: 226730

* 147556. INTEGRIN, ALPHA-6; ITGA6
Cytogenetic location: 2q31.1, Genomic coordinates (GRCh38): 2:172,427,336-172,506,459
Matching terms: 147556

* 147557. INTEGRIN, BETA-4; ITGB4
Cytogenetic location: 17q25.1, Genomic coordinates (GRCh38): 17:75,721,459-75,757,818
Matching terms: 147557

* 601282. PLECTIN; PLEC
Cytogenetic location: 8q24.3, Genomic coordinates (GRCh38): 8:143,915,153-143,976,745
Matching terms: 601282

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Printed: March 5, 2025