MRLS
MCID: MST021
MIFTS: 28
|
Meester-Loeys Syndrome (MRLS)
Categories:
Genetic diseases
|
|
MalaCards integrated aliases for Meester-Loeys Syndrome:Characteristics:OMIM:57
Inheritance:
x-linked
Miscellaneous:
phenotype of carrier females ranges from unaffected to fatal aortic dissection HPO:32Classifications: |
UniProtKB/Swiss-Prot
:
75
Meester-Loeys syndrome: An X-linked, thoracic aortic aneurysm syndrome characterized by early- onset, severe aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia.
MalaCards based summary : Meester-Loeys Syndrome, also known as mrls, is related to systemic lupus erythematosus and sialadenitis. An important gene associated with Meester-Loeys Syndrome is BGN (Biglycan). Affiliated tissues include skin, kidney and thyroid, and related phenotypes are malar flattening and hypertelorism
Description from OMIM:
300989
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:300989Human phenotypes related to Meester-Loeys Syndrome:32 (show all 17)
|
|
MalaCards organs/tissues related to Meester-Loeys Syndrome:41
Skin,
Kidney,
Thyroid,
T Cells,
B Cells,
Testes
|
Articles related to Meester-Loeys Syndrome:(show all 11)
|
ClinVar genetic disease variations for Meester-Loeys Syndrome:6
|
Search
GEO
for disease gene expression data for Meester-Loeys Syndrome.
|
|
|