Details of Disease

General Information of Disease (ID: DISBKXS8)

Disease Name Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
Synonyms
SMDMDM; spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type; chondrodysplasia, Megarbane-Dagher-Melki type; autosomal recessive spondylometaphyseal dysplasia, Mgarban type; PAM16 spondylodysplastic dysplasia; spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type; spondylodysplastic dysplasia caused by mutation in PAM16
Definition Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.
Disease Hierarchy
DISZ8ZFO: Spondylodysplastic dysplasia
DISDTAJK: Spondylometaphyseal dysplasia
DISV6ZCN: Severe spondylodysplastic dysplasia
DISBKXS8: Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
Disease Identifiers
MONDO ID
MONDO_0013223
MESH ID
C567644
UMLS CUI
C2750075
OMIM ID
613320
MedGen ID
413221
Orphanet ID
401979

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
PAM16 OTCMU9NL Strong Autosomal recessive [1]
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References

1 The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia. PLoS Genet. 2014 May 1;10(5):e1004311. doi: 10.1371/journal.pgen.1004311. eCollection 2014 May.