Hypophosphatasia
An Autosomal dominant, Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal dominant, 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 | ALPL/249 | alkaline phosphatase, biomineralization associated | 1p36.12 | Chr1, NC_000001.11 (21508984..21578410) |
69427 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities