Protein-losing Enteropathy(Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy [CHAPLE])
An Autosomal recessive mode(s) within the Gastrointestinal disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Gastrointestinal 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 | CD55/1604 | CD55 molecule (Cromer blood group) | 1q32.2 | Chr1, NC_000001.11 (207321678..207360966) |
39289 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |