Details of Disease

General Information of Disease (ID: DIST8T27)

Disease Name Craniodiaphyseal dysplasia
Synonyms CDD; Lionitis; craniodiaphyseal dysplasia
Definition
Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DIS60EOE: Hyperostosis
DISK6EZQ: Craniometaphyseal dysplasia
DIST8T27: Craniodiaphyseal dysplasia
Disease Identifiers
MONDO ID
MONDO_0009031
UMLS CUI
C0410539
OMIM ID
218300
MedGen ID
96080
Orphanet ID
1513
SNOMED CT ID
205506004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SOST TTYRO4F Supportive Autosomal dominant [1]
SOST TTYRO4F Strong Genetic Variation [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLIP1 OTTGAEJE Limited Biomarker [3]
SOST OT0NUJIZ Supportive Autosomal dominant [1]
CDKL5 OTGL5HRV Definitive Genetic Variation [4]
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References

1 Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. Hum Genet. 2011 May;129(5):497-502. doi: 10.1007/s00439-011-0947-3. Epub 2011 Jan 9.
2 Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia.Hum Mol Genet. 2017 Dec 1;26(23):4572-4587. doi: 10.1093/hmg/ddx339.
3 Pregnenolone and pregnenolone-methyl-ether rescue neuronal defects caused by dysfunctional CLIP170 in a neuronal model of CDKL5 Deficiency Disorder.Neuropharmacology. 2020 Mar 1;164:107897. doi: 10.1016/j.neuropharm.2019.107897. Epub 2019 Nov 30.
4 Pharmacotherapy with sertraline rescues brain development and behavior in a mouse model of CDKL5 deficiency disorder.Neuropharmacology. 2020 May 1;167:107746. doi: 10.1016/j.neuropharm.2019.107746. Epub 2019 Aug 27.