Details of Disease

General Information of Disease (ID: DISMKJPA)

Disease Name Spondylometaphyseal dysplasia, Sedaghatian type
Synonyms
SMDS; metaphyseal chondrodysplasia, congenital lethal; lethal metaphyseal dysplasia; spondylometaphyseal dysplasia Sedaghatian type; Sedaghatian chondrodysplasia; spondylometaphyseal dysplasia, Sedaghatian type
Definition
Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.
Disease Hierarchy
DISHJT9E: Inherited glutathione metabolism disease
DISDTAJK: Spondylometaphyseal dysplasia
DISV6ZCN: Severe spondylodysplastic dysplasia
DISMKJPA: Spondylometaphyseal dysplasia, Sedaghatian type
Disease Identifiers
MONDO ID
MONDO_0009593
MESH ID
C535798
UMLS CUI
C1855229
OMIM ID
250220
MedGen ID
340816
Orphanet ID
93317

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GPX4 OTRAFFX2 Strong Autosomal recessive [1]
PSD4 OTEFB87Z Strong Biomarker [2]
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References

1 Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. J Med Genet. 2014 Jul;51(7):470-4. doi: 10.1136/jmedgenet-2013-102218. Epub 2014 Apr 4.
2 Sperm RNA elements as markers of health.Syst Biol Reprod Med. 2018 Feb;64(1):25-38. doi: 10.1080/19396368.2017.1393583. Epub 2017 Dec 3.