SHORT Syndrome(Lipodystrophy-Rieger anomaly-diabetes syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Endocrine disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Endocrine 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 | PIK3R1/5295 | phosphoinositide-3-kinase regulatory subunit 1 | 5q13.1 | Chr5, NC_000005.10 (68215756..68301821) |
86066 nt | 23 | 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 |