Glucocorticoid Deficiency With Achalasia(Triple A syndrome (Allgrove syndrome)) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Endocrine disorders category
Candidate Gene Information
An Autosomal recessive 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 | AAAS/8086 | aladin WD repeat nucleoporin | 12q13.13 | Chr12, NC_000012.12 (53307460..53321610, complement) |
14151 nt | 16 | 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 |