Hereditary Pulmonary Alveolar Proteinosis(Pulmonary surfactant metabolism dysfunction) 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 | SFTPB/6439 | surfactant protein B | 2p11.2 | Chr2, NC_000002.12 (85657307..85668741, complement) |
11435 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SFTPC/6440 | surfactant protein C | 8p21.3 | Chr8, NC_000008.11 (22157383..22164479) |
7097 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | ABCA3/21 | ATP binding cassette subfamily A member 3 | 16p13.3 | Chr16, NC_000016.10 (2275881..2340728, complement) |
64848 nt | 33 | 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 NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |