Details of Disease

General Information of Disease (ID: DIS2YXJ1)

Disease Name Craniodiaphyseal dysplasia, autosomal dominant
Synonyms craniodiaphyseal dysplasia, dominant; dominantly inherited craniodiaphyseal dysplasia; Schaefer Stein Oshman syndrome; craniodiaphyseal dysplasia, autosomal dominant; CDD
Disease Hierarchy
DISK6EZQ: Craniometaphyseal dysplasia
DIS2YXJ1: Craniodiaphyseal dysplasia, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0021021
MESH ID
C567275
UMLS CUI
C2675746
OMIM ID
122860
MedGen ID
382678

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 Limited Unknown [1]
SOST TTYRO4F Strong Genetic Variation [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLIP1 OTTGAEJE Limited Biomarker [3]
SOST OT0NUJIZ Limited Unknown [1]
ANKH OTCN25R5 Definitive Biomarker [4]
CDKL5 OTGL5HRV Definitive Genetic Variation [5]
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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 Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia.J Bone Miner Res. 2009 Jul;24(7):1206-15. doi: 10.1359/jbmr.090218.
5 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.