Details of Disease

General Information of Disease (ID: DISU12OO)

• Disease Name: Craniometaphyseal dysplasia, autosomal dominant
• Synonyms: craniometaphyseal dysplasia, Jackson type; CMDD; craniometaphyseal dysplasia Jackson type; CMD; CMDJ; craniometaphyseal dysplasia, autosomal dominant
• Disease Hierarchy:
  DISK6EZQ: Craniometaphyseal dysplasia
  DISU12OO: Craniometaphyseal dysplasia, autosomal dominant
• Disease Identifiers:
  MONDO ID: MONDO_0007397
  MESH ID: C565145
  UMLS CUI: C1852502
  OMIM ID: 123000
  MedGen ID: 338945

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ANK1	TTKFPMH	Strong	Altered Expression	[1]
COL6A3	TT5WCAH	Strong	Biomarker	[2]
DAG1	TT4X7PG	Strong	Biomarker	[3]
DYSF	TTA7MXQ	Strong	Altered Expression	[4]
SGCA	TTS9Q5V	Strong	Altered Expression	[4]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ANKH	DTT3SXN	Definitive	Autosomal dominant	[5]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHKB	DEHWR6V	Strong	Genetic Variation	[6]

This Disease Is Related to 15 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTN3	OT9DZ7JQ	Strong	Altered Expression	[7]
B4GALNT2	OT85V4QV	Strong	Altered Expression	[8]
CAPN3	OTCHG3YK	Strong	Biomarker	[9]
CD177	OTS79FNF	Strong	Altered Expression	[10]
FKRP	OTMUZ7GH	Strong	Genetic Variation	[11]
FKTN	OTQ9GCXL	Strong	Genetic Variation	[12]
ITGA7	OTTBTAYW	Strong	Genetic Variation	[13]
LAMA2	OTFROQWE	Strong	Biomarker	[14]
LAMB1	OT6J9LJR	Strong	Altered Expression	[15]
LGALS4	OTKQCG0H	Strong	Biomarker	[16]
MPI	OTBH6ZK1	Strong	Biomarker	[17]
POMT1	OTGQSHL5	Strong	Biomarker	[18]
ROM1	OTE7H0YV	Strong	Biomarker	[19]
ANKH	OTCN25R5	Definitive	Autosomal dominant	[5]
POMT2	OTO1ZQZX	Definitive	Genetic Variation	[18]

References

• [1] Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia.Sci Rep. 2018 Oct 24;8(1):15710. doi: 10.1038/s41598-018-34157-5.
• [2] Autosomal recessive inheritance of classic Bethlem myopathy. Neuromuscul Disord. 2009 Dec;19(12):813-7. doi: 10.1016/j.nmd.2009.09.010. Epub 2009 Nov 1.
• [3] Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of -dystroglycan.Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253.
• [4] Dystrophin-glycoproteins associated in congenital muscular dystrophy: immunohistochemical analysis of 59 Brazilian cases.Arq Neuropsiquiatr. 2005 Sep;63(3B):791-800. doi: 10.1590/s0004-282x2005000500014. Epub 2005 Oct 18.
• [5] Dominant craniometaphyseal dysplasia--a family study over five generations. Australas Radiol. 1989 Feb;33(1):84-9. doi: 10.1111/j.1440-1673.1989.tb03242.x.
• [6] Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.J Inherit Metab Dis. 2015 Nov;38(6):1099-108. doi: 10.1007/s10545-015-9856-2. Epub 2015 Jun 12.
• [7] Deficiency of alpha-actinin-3 (ACTN3) occurs in different forms of muscular dystrophy.Neuropediatrics. 1997 Aug;28(4):223-8. doi: 10.1055/s-2007-973704.
• [8] Congenital muscular dystrophies involving the O-mannose pathway.Curr Mol Med. 2007 Jun;7(4):417-25. doi: 10.2174/156652407780831601.
• [9] LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.Muscle Nerve. 2015 Oct;52(4):547-53. doi: 10.1002/mus.24588. Epub 2015 Aug 13.
• [10] Clinical significance of neutrophil CD177 mRNA expression in Ph-negative chronic myeloproliferative disorders.Br J Haematol. 2004 Sep;126(5):650-6. doi: 10.1111/j.1365-2141.2004.05098.x.
• [11] Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice.Mol Ther Nucleic Acids. 2018 Jun 1;11:216-227. doi: 10.1016/j.omtn.2018.02.008. Epub 2018 Mar 6.
• [12] A variant of congenital muscular dystrophy.Brain Dev. 2002 Jan;24(1):24-9. doi: 10.1016/s0387-7604(01)00384-9.
• [13] Diagnosis and etiology of congenital muscular dystrophy.Neurology. 2008 Jul 29;71(5):312-21. doi: 10.1212/01.wnl.0000284605.27654.5a. Epub 2007 Dec 26.
• [14] Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.Neurology. 2019 Nov 19;93(21):e1932-e1943. doi: 10.1212/WNL.0000000000008517. Epub 2019 Oct 25.
• [15] Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy.Neuropediatrics. 1997 Aug;28(4):217-22. doi: 10.1055/s-2007-973703.
• [16] Protein biomarkers and coronary microvascular dilatation assessed by rubidium-82 PET in women with angina pectoris and no obstructive coronary artery disease.Atherosclerosis. 2018 Aug;275:319-327. doi: 10.1016/j.atherosclerosis.2018.06.864. Epub 2018 Jun 19.
• [17] Coronary microvascular dysfunction is associated with cardiac time intervals in women with angina and no obstructive coronary artery disease: An iPOWER substudy.Echocardiography. 2019 Jun;36(6):1110-1117. doi: 10.1111/echo.14356. Epub 2019 Apr 22.
• [18] Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.Neuromuscul Disord. 2014 Apr;24(4):321-4. doi: 10.1016/j.nmd.2014.01.009. Epub 2014 Jan 28.
• [19] Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy.Neuromuscul Disord. 2017 Mar;27(3):278-285. doi: 10.1016/j.nmd.2016.11.017. Epub 2016 Dec 5.