Details of Disease | DrugMAP

General Information of Disease (ID: DISK6EZQ)

Disease Name	Craniometaphyseal dysplasia
Definition	Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.
Disease Hierarchy	DISHH6XB: Familial osteosclerosis DISK6EZQ: Craniometaphyseal dysplasia
Disease Identifiers	MONDO ID MONDO_0015465 MESH ID C537519 UMLS CUI C0265292 OMIM ID 269300 MedGen ID 82702 Orphanet ID 1522 SNOMED CT ID 278833002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJA1	TT4F7SL	Supportive	Autosomal dominant	[1]
ANK1	TTKFPMH	Strong	Genetic Variation	[2]
GJA1	TT4F7SL	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ANKH	DTT3SXN	Supportive	Autosomal dominant	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANKH	OTCN25R5	Supportive	Autosomal dominant	[3]
GJA1	OTT94MKL	Supportive	Autosomal dominant	[1]
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References

1	A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone.0073576. eCollection 2013.
2	A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).Hum Mol Genet. 2011 Mar 1;20(5):948-61. doi: 10.1093/hmg/ddq541. Epub 2010 Dec 13.
3	Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15.