Pseudopseudohypoparathyroidism(AHO-PPHP 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 | GNAS/2778 | GNAS complex locus | 20q13.32 | Chr20, NC_000020.11 (58839748..58911192) |
71445 nt | 22 | 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 |