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Bone marrow maturation arrest

MedGen UID:
Concept ID:
Cell or Molecular Dysfunction
Synonyms: Haematopoietic maturation arrest; Hematopoietic maturation arrest
SNOMED CT: Hematopoietic maturation arrest (14998000); Bone marrow maturation arrest (14998000)
HPO: HP:0033606


Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBone marrow maturation arrest

Conditions with this feature

Heterotopia, periventricular, X-linked dominant
MedGen UID:
Concept ID:
Disease or Syndrome
FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilation and rupture of the thoracic aortic, pulmonary disease (pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis), gastrointestinal dysmotility and obstruction, joint hypermobility, and macrothrombocytopenia.
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the <i>JAGN1</i> gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities, may also be associated.
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
Severe congenital neutropenia-7 is an autosomal recessive immunodeficiency characterized by onset of recurrent infections in infancy or early childhood. Patients have peripheral neutropenia, although bone marrow biopsy shows normal granulocyte maturation. The neutropenia is not responsive to treatment with G-CSF, but may be responsive to GM-CSF (summary by Triot et al., 2014 and Klimiankou et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).
Specific granule deficiency 2
MedGen UID:
Concept ID:
Disease or Syndrome
Specific granule deficiency-2 (SGD2) is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include paucity of neutrophil granulocytes, absence of granule proteins in neutrophils, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and patients may die in early childhood unless they undergo hematopoietic stem cell transplantation. Most patients have additional findings, including delayed development, mild dysmorphic features, tooth abnormalities, and distal skeletal defects (Witzel et al., 2017). For a discussion of genetic heterogeneity of SGD, see SGD1 (245480).
3-methylglutaconic aciduria, type VIIB
MedGen UID:
Concept ID:
Disease or Syndrome
CLPB (caseinolytic peptidase B) deficiency is characterized by neurologic involvement and neutropenia, which can range from severe to mild. In severe CLPB deficiency, death usually occurs at a few months of age due to significant neonatal neurologic involvement (hyperekplexia or absence of voluntary movements, hypotonia or hypertonia, swallowing problems, respiratory insufficiency, and epilepsy) and severe neutropenia associated with life-threatening infections. Individuals with moderate CLPB deficiency present with neurologic abnormalities in infancy including hypotonia and feeding problems, and develop spasticity, a progressive movement disorder (ataxia, dystonia, and/or dyskinesia), epilepsy, and intellectual disability. Neutropenia is variable, but not life threatening. In those with mild CLPB deficiency there is no neurologic involvement, intellect is normal, neutropenia is mild and intermittent, and life expectancy is normal.

Professional guidelines


Sweta J, Khandelwal R, Srinitha S, Pancholi R, Adhikary R, Ali MA, Nayarisseri A, Vuree S, Singh SK
Asian Pac J Cancer Prev 2019 Aug 1;20(8):2287-2297. doi: 10.31557/APJCP.2019.20.8.2287. PMID: 31450897Free PMC Article
Valent P, Büsche G, Theurl I, Uras IZ, Germing U, Stauder R, Sotlar K, Füreder W, Bettelheim P, Pfeilstöcker M, Oberbauer R, Sperr WR, Geissler K, Schwaller J, Moriggl R, Béné MC, Jäger U, Horny HP, Hermine O
Haematologica 2018 Oct;103(10):1593-1603. Epub 2018 Aug 3 doi: 10.3324/haematol.2018.192518. PMID: 30076180Free PMC Article
Cornic M, Agadir A, Degos L, Chomienne C
Anticancer Res 1994 Nov-Dec;14(6A):2339-46. PMID: 7825969

Recent clinical studies


Boxer LA
Trans Am Clin Climatol Assoc 2006;117:13-31; discussion 31-2. PMID: 18528462Free PMC Article

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