Details of Disease

General Information of Disease (ID: DISVTW53)

• Disease Name: Campomelic dysplasia
• Synonyms: camptomelic dysplasia; acampomelic campomelic dysplasia with autosomal Sex reversal; CMPD1; campomelic dysplasia with autosomal Sex reversal; Cmpd1/Sra1; Cmd1; Cmpd; acampomelic campomelic dysplasia; campomelic dysplasia; campomelic dwarfism; Campomelic Syndrome; CMD
• Definition: Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).|Editor note: consider adding grouping class for related disorders
• Disease Hierarchy:
  DISRGY2N: Endocrine disease
  DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
  DIS9SPWW: Osteochondrodysplasia
  DISOZHVP: Bent bone dysplasia
  DISVTW53: Campomelic dysplasia
• Disease Identifiers:
  MONDO ID: MONDO_0007251
  MESH ID: D055036
  UMLS CUI: C1861922
  OMIM ID: 114290
  MedGen ID: 354620
  Orphanet ID: 140

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 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHKB	DEHWR6V	Strong	Genetic Variation	[5]

This Disease Is Related to 28 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SRA1	OTYOGMTG	Limited	Genetic Variation	[6]
ACTN3	OT9DZ7JQ	Strong	Altered Expression	[7]
ANKH	OTCN25R5	Strong	Altered Expression	[1]
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]
HOXB1	OTGC0EKI	Strong	Biomarker	[13]
HOXB2	OTTD6HMV	Strong	Biomarker	[13]
HOXB3	OT9UC5PE	Strong	Biomarker	[13]
HOXB4	OTH1HRW5	Strong	Biomarker	[13]
HOXB5	OTU74TB8	Strong	Biomarker	[13]
HOXB6	OT3TFQ0U	Strong	Biomarker	[13]
HOXB8	OTKHOD17	Strong	Biomarker	[13]
HOXB9	OTMVHQOU	Strong	Biomarker	[13]
ITGA7	OTTBTAYW	Strong	Genetic Variation	[14]
LAMA2	OTFROQWE	Strong	Biomarker	[15]
LAMB1	OT6J9LJR	Strong	Altered Expression	[16]
LGALS4	OTKQCG0H	Strong	Biomarker	[17]
MPI	OTBH6ZK1	Strong	Biomarker	[18]
POMT1	OTGQSHL5	Strong	Biomarker	[19]
ROM1	OTE7H0YV	Strong	Biomarker	[20]
SOX21	OTNT50CC	Strong	Biomarker	[21]
SRY	OT516T6D	Strong	Genetic Variation	[22]
POMT2	OTO1ZQZX	Definitive	Genetic Variation	[19]
SOX8	OTEJXYZM	Definitive	Biomarker	[23]
SOX9	OTVDJFGN	Definitive	Autosomal dominant	[24]

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] 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.
• [6] Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.Hum Genet. 1996 Feb;97(2):186-93. doi: 10.1007/BF02265263.
• [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] Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1.Nat Genet. 1993 Jun;4(2):170-4. doi: 10.1038/ng0693-170.
• [14] 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.
• [15] 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.
• [16] 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.
• [17] 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.
• [18] 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.
• [19] 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.
• [20] 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.
• [21] Isolation of a novel Sry-related gene that is expressed in high-metastatic K-1735 murine melanoma cells.Genomics. 1997 Jan 1;39(1):30-7. doi: 10.1006/geno.1996.4483.
• [22] De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development.Am J Med Genet A. 2010 Feb;152A(2):422-6. doi: 10.1002/ajmg.a.33201.
• [23] Roles and regulation of SOX transcription factors in skeletogenesis.Curr Top Dev Biol. 2019;133:171-193. doi: 10.1016/bs.ctdb.2019.01.007. Epub 2019 Feb 26.
• [24] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.