EHLERS DANLOS SYNDROME (EDS) Flashcards
a group of hereditary connective tissue
disorders that manifests clinically with skin
hyperelasticity, hypermobility of joints, atrophic
scarring, and fragility of blood vessels
EDS
What causes EDS?
Defect in the synthesis of collagen
In EDS, how many percent is inherited from parent 1 under autosomal dominant pattern?
50%
In EDS, how many percent is inherited from both under autosomal recessive pattern?
25%
This type of EDS is caused by mutations in genes responsible for collagen production and is characterized by hyperextensible skin and fragile tissues.
Classical EDS
This type of EDS is also caused by mutations in genes responsible for collagen production and is characterized by joint hypermobility leading to frequent joint dislocations, sprains, and chronic pain.
Hypermobility EDS
These genes are responsible for
encoding the pro-alpha1(V) chain
and pro-alpha2(V) chain of type V
collagen
COL5A1 AND
COL5A2 GENES
Mutation in COL5A1 and COL5A2 GENES can cause?
Classical EDS
These genes are responsible for
encoding type I collagen
COL1A2 AND
NMD GENES
Mutations in these genes cause
cardiac-valvular EDS
COL1A2 AND
NMD GENES
This gene encodes the proalpha1(III) chain of type III collagen
COL3A1 GENE
Mutations in this gene cause
vascular EDS
COL3A1 GENE
This gene encodes the enzyme lysyl hydroxylase 1, which is involved in collagen synthesis.
PLOD1 GENE
Mutations in PLOD1 gene cause?
kyphoscoliotic EDS
This gene encodes a protein involved in collagen folding
Mutations in this gene cause kyphoscoliotic EDS
FKBP14 GENE
