Tangier Disease(Analphalipo-proteinemia) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic 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 | ABCA1/19 | ATP binding cassette subfamily A member 1 | 9q31.1 | Chr9, NC_000009.12 (104781006..104928155, complement) |
147150 nt | 50 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | APOA1/335 | apolipoprotein A1 | 11q23.3 | Chr11, NC_000011.10 (116835751..116837950, complement) |
2200 nt | 4 | 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 |