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Alpha-2 deficient collagen disease

MedGen UID:
395359
•Concept ID:
C1859850
•
Disease or Syndrome
Synonym: Meigel disease
 
OMIM®: 203760

Clinical features

From HPO
Arachnodactyly
MedGen UID:
2047
•Concept ID:
C0003706
•
Congenital Abnormality
Abnormally long and slender fingers ("spider fingers").
See: Feature record | Search on this feature
Disproportionate tall stature
MedGen UID:
323048
•Concept ID:
C1836996
•
Finding
A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.
Liang WC, Tian X, Yuo CY, Chen WZ, Kan TM, Su YN, Nishino I, Wong LC, Jong YJ
PLoS One 2017;12(2):e0170517. Epub 2017 Feb 9 doi: 10.1371/journal.pone.0170517. PMID: 28182637Free PMC Article
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy.
Bendixen RM, Butrum J, Jain MS, Parks R, Hodsdon B, Nichols C, Hsia M, Nelson L, Keller KC, McGuire M, Elliott JS, Linton MM, Arveson IC, Tounkara F, Vasavada R, Harnett E, Punjabi M, Donkervoort S, Dastgir J, Leach ME, Rutkowski A, Waite M, Collins J, Bönnemann CG, Meilleur KG
Neuromuscul Disord 2017 Mar;27(3):278-285. Epub 2016 Dec 5 doi: 10.1016/j.nmd.2016.11.017. PMID: 28087121Free PMC Article
Electrical impedance myography discriminates congenital muscular dystrophy from controls.
Schwartz DP, Dastgir J, Salman A, Lear B, Bönnemann CG, Lehky TJ
Muscle Nerve 2016 Mar;53(3):402-6. Epub 2015 Aug 13 doi: 10.1002/mus.24770. PMID: 26179210
Recombinant collagen trimers from insect cells and yeast.
Myllyharju J
Methods Mol Biol 2009;522:51-62. doi: 10.1007/978-1-59745-413-1_3. PMID: 19247604
Pathophysiology of vascular calcification in chronic kidney disease.
Moe SM, Chen NX
Circ Res 2004 Sep 17;95(6):560-7. doi: 10.1161/01.RES.0000141775.67189.98. PMID: 15375022

Diagnosis

The voltage-gated K(+) channel Kv1.3 modulates platelet motility and α(2)β(1) integrin-dependent adhesion to collagen.
Wright JR, Jones S, Parvathy S, Kaczmarek LK, Forsythe I, Farndale RW, Gibbins JM, Mahaut-Smith MP
Platelets 2022 Apr 3;33(3):451-461. Epub 2021 Aug 4 doi: 10.1080/09537104.2021.1942818. PMID: 34348571Free PMC Article
Downregulation of TREM-like transcript-1 and collagen receptor α2 subunit, two novel RUNX1-targets, contributes to platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia.
Glembotsky AC, Sliwa D, Bluteau D, Balayn N, Marin Oyarzún CP, Raimbault A, Bordas M, Droin N, Pirozhkova I, Washington V, Goette NP, Marta RF, Favier R, Raslova H, Heller PG
Haematologica 2019 Jun;104(6):1244-1255. Epub 2018 Dec 13 doi: 10.3324/haematol.2018.188904. PMID: 30545930Free PMC Article
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy.
Bendixen RM, Butrum J, Jain MS, Parks R, Hodsdon B, Nichols C, Hsia M, Nelson L, Keller KC, McGuire M, Elliott JS, Linton MM, Arveson IC, Tounkara F, Vasavada R, Harnett E, Punjabi M, Donkervoort S, Dastgir J, Leach ME, Rutkowski A, Waite M, Collins J, Bönnemann CG, Meilleur KG
Neuromuscul Disord 2017 Mar;27(3):278-285. Epub 2016 Dec 5 doi: 10.1016/j.nmd.2016.11.017. PMID: 28087121Free PMC Article
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur DG, Clarke NF, Cooper S, North K
Ann Neurol 2016 Jul;80(1):101-11. Epub 2016 May 25 doi: 10.1002/ana.24687. PMID: 27159402
Electrical impedance myography discriminates congenital muscular dystrophy from controls.
Schwartz DP, Dastgir J, Salman A, Lear B, Bönnemann CG, Lehky TJ
Muscle Nerve 2016 Mar;53(3):402-6. Epub 2015 Aug 13 doi: 10.1002/mus.24770. PMID: 26179210

Therapy

Hepatoprotective effects of the dual peroxisome proliferator-activated receptor alpha/delta agonist, GFT505, in rodent models of nonalcoholic fatty liver disease/nonalcoholic steatohepatitis.
Staels B, Rubenstrunk A, Noel B, Rigou G, Delataille P, Millatt LJ, Baron M, Lucas A, Tailleux A, Hum DW, Ratziu V, Cariou B, Hanf R
Hepatology 2013 Dec;58(6):1941-52. Epub 2013 Oct 29 doi: 10.1002/hep.26461. PMID: 23703580
The role of apoptosis in neuromuscular diseases and prospects for anti-apoptosis therapy.
Miller JB, Girgenrath M
Trends Mol Med 2006 Jun;12(6):279-86. Epub 2006 May 2 doi: 10.1016/j.molmed.2006.04.003. PMID: 16650805
Pathophysiology of vascular calcification in chronic kidney disease.
Moe SM, Chen NX
Circ Res 2004 Sep 17;95(6):560-7. doi: 10.1161/01.RES.0000141775.67189.98. PMID: 15375022
Estrogen therapy in a male patient with chronic hepatitis C and irradiation-induced testicular dysfunction.
Shimizu I, Omoya T, Kondo Y, Kusaka Y, Tsutsui A, Shibata H, Honda H, Sano N, Ito S
Intern Med 2001 Feb;40(2):100-4. doi: 10.2169/internalmedicine.40.100. PMID: 11300139

Prognosis

COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
Labelle-Dumais C, Schuitema V, Hayashi G, Hoff K, Gong W, Dao DQ, Ullian EM, Oishi P, Margeta M, Gould DB
Am J Hum Genet 2019 May 2;104(5):847-860. doi: 10.1016/j.ajhg.2019.03.007. PMID: 31051113Free PMC Article
Subarachnoid hemorrhage secondary to a ruptured middle cerebral aneurysm in a patient with osteogenesis imperfecta: a case report.
Hirohata T, Miyawaki S, Mizutani A, Iwakami T, Yamada S, Nishido H, Suzuki Y, Miyamoto S, Hoya K, Murakami M, Matsuno A
BMC Neurol 2014 Jul 23;14:150. doi: 10.1186/1471-2377-14-150. PMID: 25056440Free PMC Article
Platelet unresponsiveness to collagen: involvement of glycoprotein Ia-IIa (alpha 2 beta 1 integrin) deficiency associated with a myeloproliferative disorder.
Handa M, Watanabe K, Kawai Y, Kamata T, Koyama T, Nagai H, Ikeda Y
Thromb Haemost 1995 Mar;73(3):521-8. PMID: 7667837

Clinical prediction guides

The voltage-gated K(+) channel Kv1.3 modulates platelet motility and α(2)β(1) integrin-dependent adhesion to collagen.
Wright JR, Jones S, Parvathy S, Kaczmarek LK, Forsythe I, Farndale RW, Gibbins JM, Mahaut-Smith MP
Platelets 2022 Apr 3;33(3):451-461. Epub 2021 Aug 4 doi: 10.1080/09537104.2021.1942818. PMID: 34348571Free PMC Article
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
Labelle-Dumais C, Schuitema V, Hayashi G, Hoff K, Gong W, Dao DQ, Ullian EM, Oishi P, Margeta M, Gould DB
Am J Hum Genet 2019 May 2;104(5):847-860. doi: 10.1016/j.ajhg.2019.03.007. PMID: 31051113Free PMC Article
Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3.
Jurk K, Schulz AS, Kehrel BE, Räpple D, Schulze H, Möbest D, Friedrich WW, Omran H, Deak E, Henschler R, Scheele JS, Zieger B
Thromb Haemost 2010 May;103(5):1053-64. Epub 2010 Mar 9 doi: 10.1160/TH09-10-0689. PMID: 20216991
The mRNA and the activity of lysyl hydroxylase are up-regulated by the administration of ascorbate and hydralazine to human skin fibroblasts from a patient with Ehlers-Danlos syndrome type VI.
Yeowell HN, Walker LC, Marshall MK, Murad S, Pinnell SR
Arch Biochem Biophys 1995 Aug 20;321(2):510-6. doi: 10.1006/abbi.1995.1424. PMID: 7646078
Compositional analysis of the collagenous bone matrix. A study on adult normal and osteopenic bone tissue.
Bätge B, Diebold J, Stein H, Bodo M, Müller PK
Eur J Clin Invest 1992 Dec;22(12):805-12. doi: 10.1111/j.1365-2362.1992.tb01450.x. PMID: 1478252

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