Details of Disease

General Information of Disease (ID: DISER33V)

Disease Name Spondyloenchondrodysplasia with immune dysregulation
Synonyms
SEM; Spondyloenchondrodysplasia with immune dysregulation; spondyloenchondrodysplasia; spondylometaphyseal dysplasia with enchondromatous changes; spondylometaphyseal dysplasia with combined immunodeficiency; SPENCD; combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia; Roifman Immunoskeletal syndrome; spondyloenchondrodysplasia with immune dysregulation; SPENCDI; spondyloenchondromatosis
Disease Hierarchy
DISDTAJK: Spondylometaphyseal dysplasia
DISKP5TO: Type 1 interferonopathy of childhood
DIS8I9FS: Hereditary disorder of connective tissue
DISER33V: Spondyloenchondrodysplasia with immune dysregulation
Disease Identifiers
MONDO ID
MONDO_0011939
MESH ID
C564307
UMLS CUI
C1842763
OMIM ID
607944
MedGen ID
375009
Orphanet ID
50816
SNOMED CT ID
703523004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
ACP5 DESITDW Limited Genetic Variation [1]
ACP5 DESITDW Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACP5 OTBV4498 Definitive Autosomal recessive [2]
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References

1 Craniofacial anomalies associated with spondyloenchondrodysplasia: Two case reports.Medicine (Baltimore). 2018 Dec;97(50):e13644. doi: 10.1097/MD.0000000000013644.
2 Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder. Am J Med Genet A. 2006 Mar 15;140(6):541-50. doi: 10.1002/ajmg.a.31081.