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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Anemia
MedGen UID:
1526
•Concept ID:
C0002871
•
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Increased mean corpuscular volume
MedGen UID:
81303
•Concept ID:
C0302845
•
Finding
Larger than normal size of erythrocytes.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Recurrent sinusitis
MedGen UID:
107919
•Concept ID:
C0581354
•
Disease or Syndrome
A recurrent form of sinusitis.
See: Feature record | Search on this feature
Lymphopenia
MedGen UID:
7418
•Concept ID:
C0024312
•
Disease or Syndrome
A reduced number of lymphocytes in the blood.
See: Feature record | Search on this feature
Neutropenia
MedGen UID:
163121
•Concept ID:
C0853697
•
Finding
An abnormally low number of neutrophils in the peripheral blood.
See: Feature record | Search on this feature
Hypothyroidism
MedGen UID:
6991
•Concept ID:
C0020676
•
Disease or Syndrome
Deficiency of thyroid hormone.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

The 2022 EULAR/ACR points to consider at the early stages of diagnosis and management of suspected haemophagocytic lymphohistiocytosis/macrophage activation syndrome (HLH/MAS).
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
The 2022 EULAR/ACR Points to Consider at the Early Stages of Diagnosis and Management of Suspected Haemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome (HLH/MAS).
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: 37486733Free PMC Article
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
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

Clinical and Molecular Determinants of Clonal Evolution in Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria.
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
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
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
Inherited bone marrow failure in the pediatric patient.
Dokal I, Tummala H, Vulliamy T
Blood 2022 Aug 11;140(6):556-570. doi: 10.1182/blood.2020006481. PMID: 35605178Free PMC Article
Secondary myelodysplastic syndrome and leukemia in acquired aplastic anemia and paroxysmal nocturnal hemoglobinuria.
Sun L, Babushok DV
Blood 2020 Jul 2;136(1):36-49. doi: 10.1182/blood.2019000940. PMID: 32430502Free PMC Article
Horse versus rabbit antithymocyte globulin in acquired aplastic anemia.
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

Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
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
Inherited bone marrow failure in the pediatric patient.
Dokal I, Tummala H, Vulliamy T
Blood 2022 Aug 11;140(6):556-570. doi: 10.1182/blood.2020006481. PMID: 35605178Free PMC Article
Hepatitis-Associated Aplastic Anemia.
Alshaibani A, Dufour C, Risitano A, de Latour R, Aljurf M
Hematol Oncol Stem Cell Ther 2022 Jun 1;15(2):8-12. doi: 10.1016/j.hemonc.2020.10.001. PMID: 33197413
Acquired severe aplastic anaemia: how medical therapy evolved in the 20th and 21st centuries.
Scheinberg P
Br J Haematol 2021 Sep;194(6):954-969. Epub 2021 Apr 14 doi: 10.1111/bjh.17403. PMID: 33855695
Acquired aplastic anemia in children.
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

Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
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
Hepatitis-Associated Aplastic Anemia.
Alshaibani A, Dufour C, Risitano A, de Latour R, Aljurf M
Hematol Oncol Stem Cell Ther 2022 Jun 1;15(2):8-12. doi: 10.1016/j.hemonc.2020.10.001. PMID: 33197413
Acquired severe aplastic anaemia: how medical therapy evolved in the 20th and 21st centuries.
Scheinberg P
Br J Haematol 2021 Sep;194(6):954-969. Epub 2021 Apr 14 doi: 10.1111/bjh.17403. PMID: 33855695
Secondary myelodysplastic syndrome and leukemia in acquired aplastic anemia and paroxysmal nocturnal hemoglobinuria.
Sun L, Babushok DV
Blood 2020 Jul 2;136(1):36-49. doi: 10.1182/blood.2019000940. PMID: 32430502Free PMC Article
Horse versus rabbit antithymocyte globulin in acquired aplastic anemia.
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

Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
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
Revesz syndrome revisited.
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
Secondary myelodysplastic syndrome and leukemia in acquired aplastic anemia and paroxysmal nocturnal hemoglobinuria.
Sun L, Babushok DV
Blood 2020 Jul 2;136(1):36-49. doi: 10.1182/blood.2019000940. PMID: 32430502Free PMC Article
Acquired aplastic anemia in children.
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
Horse versus rabbit antithymocyte globulin in acquired aplastic anemia.
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

Clinical prediction guides

Clinical and Molecular Determinants of Clonal Evolution in Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria.
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
Hepatitis-Associated Aplastic Anemia.
Alshaibani A, Dufour C, Risitano A, de Latour R, Aljurf M
Hematol Oncol Stem Cell Ther 2022 Jun 1;15(2):8-12. doi: 10.1016/j.hemonc.2020.10.001. PMID: 33197413
Baseline clinical characteristics and disease burden in patients with paroxysmal nocturnal hemoglobinuria (PNH): updated analysis from the International PNH Registry.
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
The Genetic Landscape of Diamond-Blackfan Anemia.
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
Horse versus rabbit antithymocyte globulin in acquired aplastic anemia.
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

Safety and efficacy of eltrombopag in patients with aplastic anemia: a systematic review and meta-analysis of randomized controlled trials.
Guo H, Liu C, Kang L, Liu C, Liu Y
Hematology 2024 Dec;29(1):2335419. Epub 2024 Mar 30 doi: 10.1080/16078454.2024.2335419. PMID: 38553907
Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review.
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
The 2022 EULAR/ACR points to consider at the early stages of diagnosis and management of suspected haemophagocytic lymphohistiocytosis/macrophage activation syndrome (HLH/MAS).
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
The 2022 EULAR/ACR Points to Consider at the Early Stages of Diagnosis and Management of Suspected Haemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome (HLH/MAS).
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: 37486733Free PMC Article
TAFRO syndrome: A severe manifestation of Sjogren's syndrome? A systematic review.
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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