Pseudohypoaldosteronism Type 1(Generalized pseudohypoaldosteronism type 1) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Nephrological disorders category
Candidate Gene Information
An Autosomal dominant, 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 | SCNN1A/6337 | sodium channel epithelial 1 subunit alpha | 12p13.31 | Chr12, NC_000012.12 (6346847..6377359, complement) |
30513 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SCNN1B/6338 | sodium channel epithelial 1 subunit beta | 16p12.2 | Chr16, NC_000016.10 (23278231..23381294) |
103064 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | SCNN1G/6340 | sodium channel epithelial 1 subunit gamma | 16p12.2 | Chr16, NC_000016.10 (23182745..23216883) |
34139 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | NR3C2/4306 | nuclear receptor subfamily 3 group C member 2 | 4q31.23 | Chr4, NC_000004.12 (148078764..148445508, complement) |
366745 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | CUL3/8452 | cullin 3 | 2q36.2 | Chr2, NC_000002.12 (224470150..224585363, complement) |
115214 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | KLHL3/26249 | kelch like family member 3 | 5q31.2 | Chr5, NC_000005.10 (137617500..137736089, complement) |
118590 nt | 17 | 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 |