Prune Belly Syndrome(Abdominal muscle deficiency syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Nephrological disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Nephrological 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 | CHRM3/1131 | cholinergic receptor muscarinic 3 | 1q43 | Chr1, NC_000001.11 (239386568..239915450) |
528883 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | MYOCD/93649 | myocardin | 17p12 | Chr17, NC_000017.11 (12665890..12768949) |
103060 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | FLNA/2316 | filamin A | Xq28 | ChrX, NC_000023.11 (154348531..154374634, complement) |
26104 nt | 48 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |