Congenital Diaphragmatic Hernia(CDH) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Respiratory disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Respiratory 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 | PAX3/5077 | paired box 3 | 2q36.1 | Chr2, NC_000002.12 (222199887..222298998, complement) |
99112 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | FREM1/158326 | FRAS1 related extracellular matrix 1 | 9p22.3 | Chr9, NC_000009.12 (14737152..14910995, complement) |
173844 nt | 46 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | FBN1/2200 | fibrillin 1 | 15q21.1 | Chr15, NC_000015.10 (48408313..48645709, complement) |
237397 nt | 68 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | FREM2/341640 | FRAS1 related extracellular matrix 2 | 13q13.3 | Chr13, NC_000013.11 (38687077..38887131) |
200055 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | LZTR1/8216 | leucine zipper like post translational regulator 1 | 22q11.21 | Chr22, NC_000022.11 (20982297..20999032) |
16736 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | PLS3/5358 | plastin 3 | Xq23 | ChrX, NC_000023.11 (115561174..115650861) |
89688 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |