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Bone marrow failure syndrome 6(BMFS6)

MedGen UID:
1717739
Concept ID:
C5394274
Disease or Syndrome
Synonyms: BMFS6; BONE MARROW FAILURE SYNDROME 6
 
Gene (location): MDM4 (1q32.1)
 
Monarch Initiative: MONDO:0030015
OMIM®: 618849

Clinical features

From HPO
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
Chronic fatigue
MedGen UID:
760077
Concept ID:
C0518656
Finding
Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.
Squamous cell carcinoma of the tongue
MedGen UID:
91153
Concept ID:
C0349566
Neoplastic Process
A carcinoma derived from a squamous epithelial cell of the tongue.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Persistence of hemoglobin F
MedGen UID:
68693
Concept ID:
C0239941
Finding
Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.
Increased mean corpuscular volume
MedGen UID:
81303
Concept ID:
C0302845
Finding
Larger than normal size of erythrocytes.
Bone marrow hypocellularity
MedGen UID:
383749
Concept ID:
C1855710
Finding
A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Deficiency of thyroid hormone.
Short telomere length
MedGen UID:
1627435
Concept ID:
C4531138
Anatomical Abnormality
An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.

Professional guidelines

PubMed

Shakoory B, Geerlinks A, Wilejto M, Kernan K, Hines M, Romano M, Piskin D, Ravelli A, Sinha R, Aletaha D, Allen C, Bassiri H, Behrens EM, Carcillo J, Carl L, Chatham W, Cohen JI, Cron RQ, Drewniak E, Grom AA, Henderson LA, Horne A, Jordan MB, Nichols KE, Schulert G, Vastert S, Demirkaya E, Goldbach-Mansky R, de Benedetti F, Marsh RA, Canna SW; HLH/MAS task force
Ann Rheum Dis 2023 Oct;82(10):1271-1285. Epub 2023 Jul 24 doi: 10.1136/ard-2023-224123. PMID: 37487610Free PMC Article
Shakoory B, Geerlinks A, Wilejto M, Kernan K, Hines M, Romano M, Piskin D, Ravelli A, Sinha R, Aletaha D, Allen C, Bassiri H, Behrens EM, Carcillo J, Carl L, Chatham W, Cohen JI, Cron RQ, Drewniak E, Grom AA, Henderson LA, Horne A, Jordan MB, Nichols KE, Schulert G, Vastert S, Demirkaya E, Goldbach-Mansky R, de Benedetti F, Marsh RA, Canna SW
Arthritis Rheumatol 2023 Oct;75(10):1714-1732. Epub 2023 Jul 24 doi: 10.1002/art.42636. PMID: 37486733
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article

Recent clinical studies

Etiology

Gurnari C, Pagliuca S, Prata PH, Galimard JE, Catto LFB, Larcher L, Sebert M, Allain V, Patel BJ, Durmaz A, Pinto AL, Inacio MCB, Hernandez L, Dhedin N, Caillat-Zucman S, Clappier E, Sicre de Fontbrune F, Voso MT, Visconte V, Peffault de Latour R, Soulier J, Calado RT, Socié G, Maciejewski JP
J Clin Oncol 2023 Jan 1;41(1):132-142. Epub 2022 Sep 2 doi: 10.1200/JCO.22.00710. PMID: 36054881Free PMC Article
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
Dokal I, Tummala H, Vulliamy T
Blood 2022 Aug 11;140(6):556-570. doi: 10.1182/blood.2020006481. PMID: 35605178Free PMC Article
Sun L, Babushok DV
Blood 2020 Jul 2;136(1):36-49. doi: 10.1182/blood.2019000940. PMID: 32430502Free PMC Article
Scheinberg P, Nunez O, Weinstein B, Scheinberg P, Biancotto A, Wu CO, Young NS
N Engl J Med 2011 Aug 4;365(5):430-8. doi: 10.1056/NEJMoa1103975. PMID: 21812672Free PMC Article

Diagnosis

McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
Dokal I, Tummala H, Vulliamy T
Blood 2022 Aug 11;140(6):556-570. doi: 10.1182/blood.2020006481. PMID: 35605178Free PMC Article
Scheinberg P
Br J Haematol 2021 Sep;194(6):954-969. Epub 2021 Apr 14 doi: 10.1111/bjh.17403. PMID: 33855695
Schrezenmeier H, Röth A, Araten DJ, Kanakura Y, Larratt L, Shammo JM, Wilson A, Shayan G, Maciejewski JP
Ann Hematol 2020 Jul;99(7):1505-1514. Epub 2020 May 10 doi: 10.1007/s00277-020-04052-z. PMID: 32390114Free PMC Article
Hartung HD, Olson TS, Bessler M
Pediatr Clin North Am 2013 Dec;60(6):1311-36. Epub 2013 Oct 16 doi: 10.1016/j.pcl.2013.08.011. PMID: 24237973Free PMC Article

Therapy

Goronkova O, Novichkova G, Salimova T, Kalinina I, Baidildina D, Petrova U, Antonova K, Sadovskaya M, Suntsova E, Evseev D, Matveev V, Venyov D, Khachatryan L, Litvinov D, Pshonkin A, Ovsyannikova G, Kotskaya N, Gobadze D, Olshanskaya Y, Popov A, Raykina E, Mironenko O, Voronin K, Purbueva B, Boichenko E, Dinikina Y, Guseynova E, Sherstnev D, Kalinina E, Mezentsev S, Streneva O, Yudina N, Plaksina O, Erega E, Maschan M, Maschan A
Blood Adv 2023 Mar 28;7(6):953-962. doi: 10.1182/bloodadvances.2021006716. PMID: 35446936Free PMC Article
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
Scheinberg P
Br J Haematol 2021 Sep;194(6):954-969. Epub 2021 Apr 14 doi: 10.1111/bjh.17403. PMID: 33855695
Sun L, Babushok DV
Blood 2020 Jul 2;136(1):36-49. doi: 10.1182/blood.2019000940. PMID: 32430502Free PMC Article
Scheinberg P, Nunez O, Weinstein B, Scheinberg P, Biancotto A, Wu CO, Young NS
N Engl J Med 2011 Aug 4;365(5):430-8. doi: 10.1056/NEJMoa1103975. PMID: 21812672Free PMC Article

Prognosis

Gurnari C, Pagliuca S, Prata PH, Galimard JE, Catto LFB, Larcher L, Sebert M, Allain V, Patel BJ, Durmaz A, Pinto AL, Inacio MCB, Hernandez L, Dhedin N, Caillat-Zucman S, Clappier E, Sicre de Fontbrune F, Voso MT, Visconte V, Peffault de Latour R, Soulier J, Calado RT, Socié G, Maciejewski JP
J Clin Oncol 2023 Jan 1;41(1):132-142. Epub 2022 Sep 2 doi: 10.1200/JCO.22.00710. PMID: 36054881Free PMC Article
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
Karremann M, Neumaier-Probst E, Schlichtenbrede F, Beier F, Brümmendorf TH, Cremer FW, Bader P, Dürken M
Orphanet J Rare Dis 2020 Oct 23;15(1):299. doi: 10.1186/s13023-020-01553-y. PMID: 33097095Free PMC Article
Sun L, Babushok DV
Blood 2020 Jul 2;136(1):36-49. doi: 10.1182/blood.2019000940. PMID: 32430502Free PMC Article
Hartung HD, Olson TS, Bessler M
Pediatr Clin North Am 2013 Dec;60(6):1311-36. Epub 2013 Oct 16 doi: 10.1016/j.pcl.2013.08.011. PMID: 24237973Free PMC Article

Clinical prediction guides

Gurnari C, Pagliuca S, Prata PH, Galimard JE, Catto LFB, Larcher L, Sebert M, Allain V, Patel BJ, Durmaz A, Pinto AL, Inacio MCB, Hernandez L, Dhedin N, Caillat-Zucman S, Clappier E, Sicre de Fontbrune F, Voso MT, Visconte V, Peffault de Latour R, Soulier J, Calado RT, Socié G, Maciejewski JP
J Clin Oncol 2023 Jan 1;41(1):132-142. Epub 2022 Sep 2 doi: 10.1200/JCO.22.00710. PMID: 36054881Free PMC Article
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
Schrezenmeier H, Röth A, Araten DJ, Kanakura Y, Larratt L, Shammo JM, Wilson A, Shayan G, Maciejewski JP
Ann Hematol 2020 Jul;99(7):1505-1514. Epub 2020 May 10 doi: 10.1007/s00277-020-04052-z. PMID: 32390114Free PMC Article
Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT
Am J Hum Genet 2018 Dec 6;103(6):930-947. Epub 2018 Nov 29 doi: 10.1016/j.ajhg.2018.10.027. PMID: 30503522Free PMC Article
Scheinberg P, Nunez O, Weinstein B, Scheinberg P, Biancotto A, Wu CO, Young NS
N Engl J Med 2011 Aug 4;365(5):430-8. doi: 10.1056/NEJMoa1103975. PMID: 21812672Free PMC Article

Recent systematic reviews

Han X, Lu S, Gu C, Bian Z, Xie X, Qiao X
BMC Pediatr 2023 Oct 6;23(1):503. doi: 10.1186/s12887-023-04324-3. PMID: 37803383Free PMC Article
Shakoory B, Geerlinks A, Wilejto M, Kernan K, Hines M, Romano M, Piskin D, Ravelli A, Sinha R, Aletaha D, Allen C, Bassiri H, Behrens EM, Carcillo J, Carl L, Chatham W, Cohen JI, Cron RQ, Drewniak E, Grom AA, Henderson LA, Horne A, Jordan MB, Nichols KE, Schulert G, Vastert S, Demirkaya E, Goldbach-Mansky R, de Benedetti F, Marsh RA, Canna SW; HLH/MAS task force
Ann Rheum Dis 2023 Oct;82(10):1271-1285. Epub 2023 Jul 24 doi: 10.1136/ard-2023-224123. PMID: 37487610Free PMC Article
Shakoory B, Geerlinks A, Wilejto M, Kernan K, Hines M, Romano M, Piskin D, Ravelli A, Sinha R, Aletaha D, Allen C, Bassiri H, Behrens EM, Carcillo J, Carl L, Chatham W, Cohen JI, Cron RQ, Drewniak E, Grom AA, Henderson LA, Horne A, Jordan MB, Nichols KE, Schulert G, Vastert S, Demirkaya E, Goldbach-Mansky R, de Benedetti F, Marsh RA, Canna SW
Arthritis Rheumatol 2023 Oct;75(10):1714-1732. Epub 2023 Jul 24 doi: 10.1002/art.42636. PMID: 37486733
Zhang S, Wang Q, Cui K, Cheng B, Fan J, Hu S
Clin Drug Investig 2023 May;43(5):315-324. Epub 2023 May 11 doi: 10.1007/s40261-023-01266-7. PMID: 37165250Free PMC Article
Grange L, Chalayer E, Boutboul D, Paul S, Galicier L, Gramont B, Killian M
Autoimmun Rev 2022 Aug;21(8):103137. Epub 2022 Jul 6 doi: 10.1016/j.autrev.2022.103137. PMID: 35803499

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