Junctional Epidermolysis Bullosa With Pyloric Atresia(Carmi syndrome)
An Autosomal recessive mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Skin disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | ITGB4/3691 | integrin subunit beta 4 | 17q25.1 | Chr17, NC_000017.11 (75721459..75757818) |
36360 nt | 43 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PLEC/5339 | plectin | 8q24.3 | Chr8, NC_000008.11 (143915153..143976745, complement) |
61593 nt | 43 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | ITGA6/3655 | integrin subunit alpha 6 | 2q31.1 | Chr2, NC_000002.12 (172427336..172506459) |
79124 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities