Hirschsprung Disease(Aganglionic megacolon) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Gastrointestinal disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Gastrointestinal 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 | PHOX2B/8929 | paired like homeobox 2B | 4p13 | Chr4, NC_000004.12 (41744082..41748725, complement) |
4644 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | ECE1/1889 | endothelin converting enzyme 1 | 1p36.12 | Chr1, NC_000001.11 (21217250..21345504, complement) |
128255 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | RET/5979 | ret proto-oncogene | 10q11.21 | Chr10, NC_000010.11 (43077069..43130351) |
53283 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | EDNRB/1910 | endothelin receptor type B | 13q22.3 | Chr13, NC_000013.11 (77895481..77975527, complement) |
80047 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | EDN3/1908 | endothelin 3 | 20q13.32 | Chr20, NC_000020.11 (59300611..59325992) |
25382 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | SOX10/6663 | SRY-box transcription factor 10 | 22q13.1 | Chr22, NC_000022.11 (37972312..37984555, complement) |
12244 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | 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 |
| 8 | IHH/3549 | Indian hedgehog signaling molecule | 2q35 | Chr2, NC_000002.12 (219054424..219060921, complement) |
6498 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | TBATA/219793 | thymus, brain and testes associated | 10q22.1 | Chr10, NC_000010.11 (70771238..70785377, complement) |
14140 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | NCLN/56926 | nicalin | 19p13.3 | Chr19, NC_000019.10 (3185930..3209575) |
23646 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | NUP98/4928 | nucleoporin 98 and 96 precursor | 11p15.4 | Chr11, NC_000011.10 (3675010..3797554, complement) |
122545 nt | 34 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | DENND3/22898 | DENN domain containing 3 | 8q24.3 | Chr8, NC_000008.11 (141128589..141195804) |
67216 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | GDNF/2668 | glial cell derived neurotrophic factor | 5p13.2 | Chr5, NC_000005.10 (37812677..37840041, complement) |
27365 nt | 6 | 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 |