Hereditary Lymphedema Type I(Milroy disease) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Cardiovascular disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Cardiovascular 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 | FLT4/2324 | fms related receptor tyrosine kinase 4 | 5q35.3 | Chr5, NC_000005.10 (180601506..180650298, complement) |
48793 nt | 34 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | EPHB4/2050 | EPH receptor B4 | 7q22.1 | Chr7, NC_000007.14 (100802565..100827523, complement) |
24959 nt | 17 | 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 |