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Inherited bone marrow failure syndrome

MedGen UID:: 458917
•Concept ID:: C2986691
•: Disease or Syndrome

Synonyms:

BMF Syndrome, Inherited; Bone Marrow Failure Syndromes, Congenital; Bone Marrow Failure Syndromes, Inherited; CBMFS; Congenital Bone Marrow Failure Syndrome; Congenital Bone Marrow Failure Syndromes; IBMFS; Inherited BMF Syndrome; Inherited BMF Syndromes; Inherited Bone Marrow Failure Syndrome; Inherited Bone Marrow Failure Syndromes

Definition

A group of inherited genetic hematopoietic stem cell disorders characterized by bone marrow failure that involves one or more cell lines. Representative examples include Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVInherited bone marrow failure syndrome

Disease
- Disorder by Site
  - Hematopoietic and Lymphoid System Disorder
    - Hematologic disorder
      - Bone marrow disorder
        Bone marrow failure syndrome
        Inherited bone marrow failure syndrome
        Congenital hypoplastic anemia
        Diamond-Blackfan anemia 1
        Diamond-Blackfan anemia 2
        Diamond-Blackfan anemia 3
        Diamond-Blackfan anemia 4
        Diamond-Blackfan anemia 5
        Diamond-Blackfan anemia 6
        Diamond-Blackfan anemia 7
        Diamond-Blackfan anemia 8
        Diamond-Blackfan anemia 9
        Diamond-Blackfan anemia 10
        Diamond-Blackfan anemia 11
        Diamond-Blackfan anemia 12
        Diamond-Blackfan anemia 13
        Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
        Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
        Diamond-Blackfan anemia 16
        Diamond-Blackfan anemia 17
        Diamond-Blackfan anemia 18
        Diamond-Blackfan anemia 19
        Diamond-Blackfan anemia 20
        Dyskeratosis congenita
        Autosomal recessive dyskeratosis congenita
        Dyskeratosis congenita, autosomal recessive 1
        Dyskeratosis congenita, autosomal recessive 2
        Dyskeratosis congenita, autosomal recessive 3
        Dyskeratosis congenita, autosomal recessive 6
        Autosomal recessive dyskeratosis congenita 4
        Dyskeratosis congenita, autosomal dominant 1
        Dyskeratosis congenita, autosomal dominant 2
        Dyskeratosis congenita, autosomal dominant 3
        Dyskeratosis congenita, autosomal dominant 4
        Dyskeratosis congenita, autosomal dominant 6
        Dyskeratosis congenita, autosomal recessive 5
        Dyskeratosis congenita, X-linked
        Revesz syndrome
        Fanconi anemia
        Fanconi anemia complementation group A
        Fanconi anemia, Estren-Dameshek variant
        Fanconi anemia complementation group B
        Fanconi anemia complementation group C
        Fanconi anemia complementation group D1
        Fanconi anemia complementation group D2
        Fanconi anemia complementation group E
        Fanconi anemia complementation group F
        Fanconi anemia complementation group G
        Fanconi anemia complementation group I
        Fanconi anemia complementation group J
        Fanconi anemia complementation group L
        Fanconi anemia complementation group N
        Fanconi anemia complementation group O
        Fanconi anemia complementation group P
        Fanconi anemia, complementation group M
        Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome
        Hypoplastic anemia - familial
        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

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

Diagnosis, Treatment, and Molecular Pathology of Shwachman-Diamond Syndrome.

Nelson AS, Myers KC
Hematol Oncol Clin North Am 2018 Aug;32(4):687-700. Epub 2018 Jun 5 doi: 10.1016/j.hoc.2018.04.006. PMID: 30047420

See all (9)

Recent clinical studies

Etiology

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

Recent advances in hematopoietic cell transplantation for inherited bone marrow failure syndromes.

Sakaguchi H, Yoshida N
Int J Hematol 2022 Jul;116(1):16-27. Epub 2022 May 28 doi: 10.1007/s12185-022-03362-4. PMID: 35633493

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

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

Dyskeratosis congenita.

Savage SA, Alter BP
Hematol Oncol Clin North Am 2009 Apr;23(2):215-31. doi: 10.1016/j.hoc.2009.01.003. PMID: 19327580 Free PMC Article

See all (90)

Diagnosis

Childhood Myelodysplastic Syndrome.

Chisholm KM, Bohling SD
Clin Lab Med 2023 Dec;43(4):639-655. Epub 2023 Aug 7 doi: 10.1016/j.cll.2023.06.005. PMID: 37865508

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

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

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 (83)

Therapy

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

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

Pediatric bone marrow failure: Clinical, hematological and targeted next generation sequencing data.

Chhabra P, Bhatia P, Singh M, Bansal D, Jain R, Varma N, Trehan A
Blood Cells Mol Dis 2021 Mar;87:102510. Epub 2020 Nov 5 doi: 10.1016/j.bcmd.2020.102510. PMID: 33197791

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

Clinical approach to marrow failure.

Shimamura A
Hematology Am Soc Hematol Educ Program 2009:329-37. doi: 10.1182/asheducation-2009.1.329. PMID: 20008218

See all (33)

Prognosis

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

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

Pediatric myelodysplastic syndromes: they do exist!

Glaubach T, Robinson LJ, Corey SJ
J Pediatr Hematol Oncol 2014 Jan;36(1):1-7. doi: 10.1097/MPH.0000000000000046. PMID: 24345881

Cancer in dyskeratosis congenita.

Alter BP, Giri N, Savage SA, Rosenberg PS
Blood 2009 Jun 25;113(26):6549-57. Epub 2009 Mar 12 doi: 10.1182/blood-2008-12-192880. PMID: 19282459 Free PMC Article

Hematopoietic stem cell transplantation in childhood inherited bone marrow failure syndrome.

Gluckman E, Wagner JE
Bone Marrow Transplant 2008 Jan;41(2):127-32. Epub 2007 Dec 17 doi: 10.1038/sj.bmt.1705960. PMID: 18084332

See all (36)

Clinical prediction guides

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

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

Disease progression and clinical outcomes in telomere biology disorders.

Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA
Blood 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. PMID: 34852175 Free PMC Article

De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome.

Toki T, Yoshida K, Wang R, Nakamura S, Maekawa T, Goi K, Katoh MC, Mizuno S, Sugiyama F, Kanezaki R, Uechi T, Nakajima Y, Sato Y, Okuno Y, Sato-Otsubo A, Shiozawa Y, Kataoka K, Shiraishi Y, Sanada M, Chiba K, Tanaka H, Terui K, Sato T, Kamio T, Sakaguchi H, Ohga S, Kuramitsu M, Hamaguchi I, Ohara A, Kanno H, Miyano S, Kojima S, Ishiguro A, Sugita K, Kenmochi N, Takahashi S, Eto K, Ogawa S, Ito E
Am J Hum Genet 2018 Sep 6;103(3):440-447. Epub 2018 Aug 23 doi: 10.1016/j.ajhg.2018.07.020. PMID: 30146126 Free PMC Article

MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia.

Germeshausen M, Ancliff P, Estrada J, Metzler M, Ponstingl E, Rütschle H, Schwabe D, Scott RH, Unal S, Wawer A, Zeller B, Ballmaier M
Blood Adv 2018 Mar 27;2(6):586-596. doi: 10.1182/bloodadvances.2018016501. PMID: 29540340 Free PMC Article

See all (44)

Recent systematic reviews

Allogeneic hematopoietic stem cell transplantation for dyskeratosis congenita.

Elmahadi S, Muramatsu H, Kojima S
Curr Opin Hematol 2016 Nov;23(6):501-507. doi: 10.1097/MOH.0000000000000290. PMID: 27607446

See all (1)

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Inherited bone marrow failure syndrome

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

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