Disease_Mapped_To_Gene
Loeys-Dietz Syndrome Type 2
A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.
C114768
C2931058
Cellosaurus
Disease or Syndrome
Loeys-Dietz Syndrome Type 2
Loeys-Dietz Syndrome Type 2
Loeys-Dietz Syndrome Type II
Marfan Syndrome Type 2
Marfan Syndrome Type II
Marfan_Syndrome_Type_II
Cellosaurus Disease Terminology
TGFBR2 Gene
Cellosaurus Terminology
Loeys-Dietz Syndrome