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Bone marrow failure syndrome

MedGen UID:: 419754
•Concept ID:: C2931245
•: Disease or Syndrome

Synonyms:	Bone Marrow Failure Disorders; Bone Marrow Failure Syndrome; Bone Marrow Failure Syndromes

Monarch Initiative:	MONDO:0000159
OMIM® Phenotypic series:	PS614675

Definition

A familial or acquired bone marrow failure syndrome. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBone marrow failure syndrome

Pathological process
- Disease
  - Disorder by Site
    - Hematopoietic and Lymphoid System Disorder
      - Hematologic disorder
        Bone marrow disorder
        Bone marrow failure syndrome
        Aplastic anemia
        Aplastic anemia due to drugs
        Aplastic anemia due to infection
        Aplastic Anemia due to Hepatitis
        Aplastic anemia due to radiation
        Hypoplastic anemia - familial
        Diamond-Blackfan anemia
        Fanconi anemia
        Idiopathic aplastic anemia
        Non-Severe Aplastic Anemia
        Recurrent Aplastic Anemia
        Recurrent Severe Aplastic Anemia
        Severe Aplastic Anemia
        Refractory Severe Aplastic Anemia
        Very Severe Aplastic Anemia
        Inherited bone marrow failure syndrome
        Dyskeratosis congenita
        Autosomal recessive dyskeratosis congenita
        Autosomal recessive dyskeratosis congenita 4
        Dyskeratosis congenita, autosomal dominant 1
        Dyskeratosis congenita, autosomal dominant 2
        Dyskeratosis congenita, autosomal dominant 3
        Dyskeratosis congenita, autosomal dominant 6
        Dyskeratosis congenita, autosomal recessive 1
        Dyskeratosis congenita, autosomal recessive 2
        Dyskeratosis congenita, autosomal recessive 3
        Dyskeratosis congenita, autosomal recessive 5
        Dyskeratosis congenita, autosomal recessive 6
        Dyskeratosis congenita, X-linked
        Revesz syndrome
        Shwachman syndrome
        Shwachman-Diamond syndrome 1
        Shwachman-Diamond syndrome 2

Professional guidelines

PubMed

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: 35776903 Free PMC Article

Treatment of telomeropathies.

Vieri M, Brümmendorf TH, Beier F
Best Pract Res Clin Haematol 2021 Jun;34(2):101282. Epub 2021 Jul 1 doi: 10.1016/j.beha.2021.101282. PMID: 34404536

Aplastic anaemia: Current concepts in diagnosis and management.

Furlong E, Carter T
J Paediatr Child Health 2020 Jul;56(7):1023-1028. Epub 2020 Jul 3 doi: 10.1111/jpc.14996. PMID: 32619069

See all (25)

Recent clinical studies

Etiology

Diamond-Blackfan anemia.

Da Costa LM, Marie I, Leblanc TM
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):353-360. doi: 10.1182/hematology.2021000314. PMID: 34889440 Free PMC Article

Treatment of telomeropathies.

Vieri M, Brümmendorf TH, Beier F
Best Pract Res Clin Haematol 2021 Jun;34(2):101282. Epub 2021 Jul 1 doi: 10.1016/j.beha.2021.101282. PMID: 34404536

Current Concepts and Advances in Graft-Versus-Host Disease Immunology.

Hill GR, Betts BC, Tkachev V, Kean LS, Blazar BR
Annu Rev Immunol 2021 Apr 26;39:19-49. Epub 2021 Jan 11 doi: 10.1146/annurev-immunol-102119-073227. PMID: 33428454 Free PMC Article

Aplastic anaemia: Current concepts in diagnosis and management.

Furlong E, Carter T
J Paediatr Child Health 2020 Jul;56(7):1023-1028. Epub 2020 Jul 3 doi: 10.1111/jpc.14996. PMID: 32619069

MDS overlap disorders and diagnostic boundaries.

Tanaka TN, Bejar R
Blood 2019 Mar 7;133(10):1086-1095. Epub 2019 Jan 22 doi: 10.1182/blood-2018-10-844670. PMID: 30670443

See all (155)

Diagnosis

Diamond-Blackfan anemia.

Da Costa LM, Marie I, Leblanc TM
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):353-360. doi: 10.1182/hematology.2021000314. PMID: 34889440 Free PMC Article

Diamond-Blackfan anemia.

Da Costa L, Leblanc T, Mohandas N
Blood 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. PMID: 32702755 Free PMC Article

A Genetic Map of the Response to DNA Damage in Human Cells.

Olivieri M, Cho T, Álvarez-Quilón A, Li K, Schellenberg MJ, Zimmermann M, Hustedt N, Rossi SE, Adam S, Melo H, Heijink AM, Sastre-Moreno G, Moatti N, Szilard RK, McEwan A, Ling AK, Serrano-Benitez A, Ubhi T, Feng S, Pawling J, Delgado-Sainz I, Ferguson MW, Dennis JW, Brown GW, Cortés-Ledesma F, Williams RS, Martin A, Xu D, Durocher D
Cell 2020 Jul 23;182(2):481-496.e21. Epub 2020 Jul 9 doi: 10.1016/j.cell.2020.05.040. PMID: 32649862 Free PMC Article

Aplastic anaemia: Current concepts in diagnosis and management.

Furlong E, Carter T
J Paediatr Child Health 2020 Jul;56(7):1023-1028. Epub 2020 Jul 3 doi: 10.1111/jpc.14996. PMID: 32619069

MDS overlap disorders and diagnostic boundaries.

Tanaka TN, Bejar R
Blood 2019 Mar 7;133(10):1086-1095. Epub 2019 Jan 22 doi: 10.1182/blood-2018-10-844670. PMID: 30670443

See all (156)

Therapy

Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.

Single-cell RNA sequencing coupled to TCR profiling of large granular lymphocyte leukemia T cells.

Gao S, Wu Z, Arnold B, Diamond C, Batchu S, Giudice V, Alemu L, Raffo DQ, Feng X, Kajigaya S, Barrett J, Ito S, Young NS
Nat Commun 2022 Apr 11;13(1):1982. doi: 10.1038/s41467-022-29175-x. PMID: 35411048 Free PMC Article

Current Concepts and Advances in Graft-Versus-Host Disease Immunology.

Hill GR, Betts BC, Tkachev V, Kean LS, Blazar BR
Annu Rev Immunol 2021 Apr 26;39:19-49. Epub 2021 Jan 11 doi: 10.1146/annurev-immunol-102119-073227. PMID: 33428454 Free PMC Article

Diamond-Blackfan anemia.

Da Costa L, Leblanc T, Mohandas N
Blood 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. PMID: 32702755 Free PMC Article

MDS overlap disorders and diagnostic boundaries.

Tanaka TN, Bejar R
Blood 2019 Mar 7;133(10):1086-1095. Epub 2019 Jan 22 doi: 10.1182/blood-2018-10-844670. PMID: 30670443

See all (84)

Prognosis

Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.

Single-cell RNA sequencing coupled to TCR profiling of large granular lymphocyte leukemia T cells.

Aplastic anaemia: Current concepts in diagnosis and management.

Furlong E, Carter T
J Paediatr Child Health 2020 Jul;56(7):1023-1028. Epub 2020 Jul 3 doi: 10.1111/jpc.14996. PMID: 32619069

MDS overlap disorders and diagnostic boundaries.

Tanaka TN, Bejar R
Blood 2019 Mar 7;133(10):1086-1095. Epub 2019 Jan 22 doi: 10.1182/blood-2018-10-844670. PMID: 30670443

Dyskeratosis congenita.

Marrone A, Mason PJ
Cell Mol Life Sci 2003 Mar;60(3):507-17. doi: 10.1007/s000180300042. PMID: 12737310

See all (74)

Clinical prediction guides

Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.

Single-cell RNA sequencing coupled to TCR profiling of large granular lymphocyte leukemia T cells.

Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.

Thompson AS, Giri N, Gianferante DM, Jones K, Savage SA, Alter BP, McReynolds LJ
Pediatr Res 2022 Dec;92(6):1671-1680. Epub 2022 Mar 23 doi: 10.1038/s41390-022-02009-8. PMID: 35322185 Free PMC Article

Treatment of telomeropathies.

Vieri M, Brümmendorf TH, Beier F
Best Pract Res Clin Haematol 2021 Jun;34(2):101282. Epub 2021 Jul 1 doi: 10.1016/j.beha.2021.101282. PMID: 34404536

Dyskeratosis congenita.

Marrone A, Mason PJ
Cell Mol Life Sci 2003 Mar;60(3):507-17. doi: 10.1007/s000180300042. PMID: 12737310

See all (90)