Details of Disease

General Information of Disease (ID: DISOSKAU)

Disease Name Spondyloepimetaphyseal dysplasia, matrilin-3 type
Synonyms
SEMD MATN3-related; spondyloepimetaphyseal dysplasia matrilin-3 type; spondyloepimetaphyseal dysplasia, matrilin-3 related; spondyloepimetaphyseal dysplasia matrilin-3 related; spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type; SEMD, MATN3-related; SEMD, matrilin-3 type
Definition
A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.
Disease Hierarchy
DISO4L5A: Spondyloepimetaphyseal dysplasia
DISOSKAU: Spondyloepimetaphyseal dysplasia, matrilin-3 type
Disease Identifiers
MONDO ID
MONDO_0012108
MESH ID
C563869
UMLS CUI
C1837481
OMIM ID
608728
MedGen ID
325181
Orphanet ID
156728
SNOMED CT ID
719166003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MATN3 OTH9H74J Supportive Autosomal recessive [1]
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References

1 Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. J Med Genet. 2004 May;41(5):366-72. doi: 10.1136/jmg.2003.013342.