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MYH9 related disorders(MYH9RD)

MedGen UID:
441714
Concept ID:
CN073381
Disease or Syndrome
Synonyms: Epstein syndrome; Fechtner syndrome; May-Hegglin anomaly; MYH9 related thrombocytopenia; MYH9RD; Sebastian platelet syndrome; Sebastian syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): MYH9 (22q12.3)
Orphanet: ORPHA182050

Definition

MYH9-related disorders (MYH9RD) are characterized by large platelets (i.e., >40% of platelets >3.9 µm in diameter) and thrombocytopenia (platelet count <150 x 10(9)/L), both of which are present from birth. MYH9RD is variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, elevation of liver enzymes, and renal disease manifesting initially as glomerular nephropathy. Before identification of the gene in which mutation is causative, MYH9, individuals with MYH9RD were diagnosed as having Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, or Sebastian syndrome based on the combination of different clinical findings at the time of diagnosis. However, the realization that they all are due to heterozygous pathogenic variants in MYH9 and that the clinical findings often worsen throughout life as a result of late onset of non-hematologic manifestations has led the four conditions to be regarded as one disorder, now known as MYH9RD. [from GTR]

Additional descriptions

From GeneReviews
MYH9-related disorders (MYH9RD) are characterized by large platelets (i.e., >40% of platelets >3.9 μm in diameter) and thrombocytopenia (platelet count <150 x 10(9)/L), both of which are present from birth. MYH9RD is variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, elevation of liver enzymes, and renal disease manifesting initially as glomerular nephropathy. Before identification of the gene in which mutation is causative, MYH9, individuals with MYH9RD were diagnosed as having Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, or Sebastian syndrome based on the combination of different clinical findings at the time of diagnosis. However, the realization that they all are due to heterozygous pathogenic variants in MYH9 and that the clinical findings often worsen throughout life as a result of late onset of non-hematologic manifestations has led the four conditions to be regarded as one disorder, now known as MYH9RD.  https://www.ncbi.nlm.nih.gov/books/NBK2689
From GHR
MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts).The bleeding problems in people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of circulating platelets, which are cell fragments that normally assist with blood clotting. People with MYH9-related disorder typically experience easy bruising, and affected women have excessive bleeding during menstruation (menorrhagia). The platelets in people with MYH9-related disorder are larger than normal. These enlarged platelets have difficulty moving into tiny blood vessels like capillaries. As a result, the platelet level is even lower in these small vessels, further impairing clotting.Some people with MYH9-related disorder develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss may be present from birth or can develop anytime into late adulthood.An estimated 30 to 70 percent of people with MYH9-related disorder develop renal disease, usually beginning in early adulthood. The first sign of renal disease in MYH9-related disorder is typically protein or blood in the urine. Renal disease in these individuals particularly affects structures called glomeruli, which are clusters of tiny blood vessels that help filter waste products from the blood. The resulting damage to the kidneys can lead to kidney failure and end-stage renal disease (ESRD).Some affected individuals develop cataracts in early adulthood that worsen over time.Not everyone with MYH9-related disorder has all of the major features. All individuals with MYH9-related disorder have thrombocytopenia and enlarged platelets. Most commonly, affected individuals will also have hearing loss and renal disease. Cataracts are the least common sign of this disorder.MYH9-related disorder was previously thought to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome. All of these disorders involved thrombocytopenia and enlarged platelets and were distinguished by some combination of hearing loss, renal disease, and cataracts. When it was discovered that these four conditions all had the same genetic cause, they were combined and renamed MYH9-related disorder.  https://ghr.nlm.nih.gov/condition/myh9-related-disorder

Term Hierarchy

Recent clinical studies

Etiology

Canzi P, Pecci A, Manfrin M, Rebecchi E, Zaninetti C, Bozzi V, Benazzo M
Acta Otorhinolaryngol Ital 2016 Oct;36(5):415-420. doi: 10.14639/0392-100X-702. PMID: 27958602Free PMC Article
Economou M, Batzios SP, Pecci A, Printza N, Savoia A, Barozzi S, Theodoridou S, Teli A, Psillas G, Zafeiriou DI
J Pediatr Hematol Oncol 2012 Aug;34(6):412-5. doi: 10.1097/MPH.0b013e318257a64b. PMID: 22627578
Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI
Pediatr Nephrol 2011 Apr;26(4):549-55. Epub 2011 Jan 6 doi: 10.1007/s00467-010-1735-3. PMID: 21210153
Singh N, Nainani N, Arora P, Venuto RC
Am J Kidney Dis 2009 Oct;54(4):732-40. Epub 2009 Sep 2 doi: 10.1053/j.ajkd.2009.06.023. PMID: 19726116
Pujol-Moix N, Kelley MJ, Hernández A, Muñiz-Diaz E, Español I
Haematologica 2004 Mar;89(3):330-7. PMID: 15020273

Diagnosis

Canzi P, Pecci A, Manfrin M, Rebecchi E, Zaninetti C, Bozzi V, Benazzo M
Acta Otorhinolaryngol Ital 2016 Oct;36(5):415-420. doi: 10.14639/0392-100X-702. PMID: 27958602Free PMC Article
Economou M, Batzios SP, Pecci A, Printza N, Savoia A, Barozzi S, Theodoridou S, Teli A, Psillas G, Zafeiriou DI
J Pediatr Hematol Oncol 2012 Aug;34(6):412-5. doi: 10.1097/MPH.0b013e318257a64b. PMID: 22627578
Singh N, Nainani N, Arora P, Venuto RC
Am J Kidney Dis 2009 Oct;54(4):732-40. Epub 2009 Sep 2 doi: 10.1053/j.ajkd.2009.06.023. PMID: 19726116
Pujol-Moix N, Kelley MJ, Hernández A, Muñiz-Diaz E, Español I
Haematologica 2004 Mar;89(3):330-7. PMID: 15020273
Pecci A, Noris P, Invernizzi R, Savoia A, Seri M, Ghiggeri GM, Sartore S, Gangarossa S, Bizzaro N, Balduini CL
Br J Haematol 2002 Apr;117(1):164-7. PMID: 11918549

Therapy

Hashimoto J, Hamasaki Y, Yanagisawa T, Sekine T, Aikawa A, Shishido S
Transplant Proc 2015 Oct;47(8):2541-3. doi: 10.1016/j.transproceed.2015.09.010. PMID: 26518967
Kerros H, Roule V, Ivascau C, Labombarda F
Platelets 2011;22(6):471-2. Epub 2011 May 25 doi: 10.3109/09537104.2011.578694. PMID: 21612329

Prognosis

Verver EJ, Topsakal V, Kunst HP, Huygen PL, Heller PG, Pujol-Moix N, Savoia A, Benazzo M, Fierro T, Grolman W, Gresele P, Pecci A
Ear Hear 2016 Jan-Feb;37(1):112-20. doi: 10.1097/AUD.0000000000000198. PMID: 26226608
Makino S, Kunishima S, Ikumi A, Awaguni H, Shinozuka J, Tanaka S, Maruyama R, Imashuku S
Pediatr Int 2015 Oct;57(5):977-81. Epub 2015 Sep 21 doi: 10.1111/ped.12736. PMID: 26387855
Okano S, Takase M, Iseki K, Toriumi N, Kaneda M, Kunishima S
J Pediatr Hematol Oncol 2015 Aug;37(6):e352-5. doi: 10.1097/MPH.0000000000000379. PMID: 26056797
Economou M, Batzios SP, Pecci A, Printza N, Savoia A, Barozzi S, Theodoridou S, Teli A, Psillas G, Zafeiriou DI
J Pediatr Hematol Oncol 2012 Aug;34(6):412-5. doi: 10.1097/MPH.0b013e318257a64b. PMID: 22627578
Pujol-Moix N, Kelley MJ, Hernández A, Muñiz-Diaz E, Español I
Haematologica 2004 Mar;89(3):330-7. PMID: 15020273

Clinical prediction guides

Canzi P, Pecci A, Manfrin M, Rebecchi E, Zaninetti C, Bozzi V, Benazzo M
Acta Otorhinolaryngol Ital 2016 Oct;36(5):415-420. doi: 10.14639/0392-100X-702. PMID: 27958602Free PMC Article
Zetterberg E, Carlsson Alle MS, Najm J, Greinacher A
Platelets 2016;27(3):264-7. Epub 2015 Aug 6 doi: 10.3109/09537104.2015.1064882. PMID: 26247237
Verver EJ, Topsakal V, Kunst HP, Huygen PL, Heller PG, Pujol-Moix N, Savoia A, Benazzo M, Fierro T, Grolman W, Gresele P, Pecci A
Ear Hear 2016 Jan-Feb;37(1):112-20. doi: 10.1097/AUD.0000000000000198. PMID: 26226608
Nabekura T, Nagano Y, Matsuda K, Tono T
Auris Nasus Larynx 2015 Apr;42(2):160-2. Epub 2014 Oct 5 doi: 10.1016/j.anl.2014.09.004. PMID: 25293679
Pujol-Moix N, Kelley MJ, Hernández A, Muñiz-Diaz E, Español I
Haematologica 2004 Mar;89(3):330-7. PMID: 15020273

Recent systematic reviews

Hussein BA, Gomez K, Kadir RA
Blood Coagul Fibrinolysis 2013 Jul;24(5):554-61. doi: 10.1097/MBC.0b013e32835fad03. PMID: 23811802

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