SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (SMDS)

Question 1

What is  SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (SMDS)?

Accepted Answer

very rare

autosomal recessive

mutation in the GPX4 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 250220

Question 3

Which enzymes are involved?

Accepted Answer

Phospholipid hydroperoxide glutathione peroxidase

Disease	SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (SMDS)
Synonym	METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL
OMIM	250220 OMIM = Online Mendelian Inheritance of Men
Orphanet	93317
Protein (UniProt)	Phospholipid hydroperoxide glutathione peroxidase
ExPASy	1.11.1.12
Gene locus	19p13.3
ICD	Q77.8
Summary	very rare autosomal recessive mutation in the GPX4 gene
Laboratory findings
Symptoms	atrial septal defect cardiac arrhythmia, dysrhythmia cerebellar atrophy or hypoplasia dysmorphism early death hypotonia lissencephaly metaphyseal dysplasia MRI, brain, abnormalities [-] myelination, incomplete, hypomyelination onset, infancy onset, neonatal short stature skeletal changes, skeletal abnormalities