U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Bone marrow failure and diabetes mellitus syndrome(BMFDMS)

MedGen UID:
1823991
Concept ID:
C5774218
Disease or Syndrome
Synonym: BMFDMS
 
Gene (location): DUT (15q21.1)
 
Monarch Initiative: MONDO:0859288
OMIM®: 620044

Definition

Bone marrow failure and diabetes mellitus syndrome (BMFDMS) is an autosomal recessive disorder characterized by the onset of manifestations of bone marrow failure, such as anemia, thrombocytopenia, and dyserythropoiesis, in infancy or early childhood. White blood cell lineages may or may not be affected. Patients with BMFDMS also develop nonautoimmune insulin-dependent diabetes mellitus in the first or second decades, likely due to apoptosis of pancreatic beta cells. Many patients show pigmentary skin abnormalities and short stature. Bone marrow transplant is curative for the bone marrow failure, but does not have an effect on diabetes (Dos Santos et al., 2017). [from OMIM]

Clinical features

From HPO
T-cell acute lymphoblastic leukemia
MedGen UID:
368378
Concept ID:
C1961099
Neoplastic Process
Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females.
Pancytopenia
MedGen UID:
18281
Concept ID:
C0030312
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Increased mean corpuscular volume
MedGen UID:
81303
Concept ID:
C0302845
Finding
Larger than normal size of erythrocytes.
Anti-glutamic acid decarboxylase antibody positivity
MedGen UID:
1370651
Concept ID:
C4476703
Laboratory or Test Result
The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.
Anti-islet antigen-2 antibody positivity
MedGen UID:
1813068
Concept ID:
C5575016
Finding
The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2.
Diabetes mellitus type 1
MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Nevus
MedGen UID:
45074
Concept ID:
C0027960
Neoplastic Process
A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.

Recent clinical studies

Etiology

Navasardyan LV, Furlan I, Brandt S, Schulz A, Wabitsch M, Denzer C
Ital J Pediatr 2023 Aug 14;49(1):98. doi: 10.1186/s13052-023-01501-z. PMID: 37580732Free PMC Article
Zhang Y, He Y, Wang S, Sun J, Jia J, Gong Y, He G, Li J
Front Immunol 2023;14:1197982. Epub 2023 Jul 11 doi: 10.3389/fimmu.2023.1197982. PMID: 37497227Free PMC Article
Bogusz-Wójcik A, Kołodziejczyk H, Moszczyńska E, Klaudel-Dreszler M, Oracz G, Pawłowska J, Szalecki M
Endokrynol Pol 2021;72(3):211-216. Epub 2021 Feb 23 doi: 10.5603/EP.a2021.0014. PMID: 33619711
Tzoran I, Hoffman R, Monreal M
Semin Thromb Hemost 2018 Oct;44(7):624-631. Epub 2018 Jun 19 doi: 10.1055/s-0038-1657779. PMID: 29920621
Pusceddu I, Farrell CJ, Di Pierro AM, Jani E, Herrmann W, Herrmann M
Clin Chem Lab Med 2015 Oct;53(11):1661-78. doi: 10.1515/cclm-2014-1184. PMID: 25803084

Diagnosis

Navasardyan LV, Furlan I, Brandt S, Schulz A, Wabitsch M, Denzer C
Ital J Pediatr 2023 Aug 14;49(1):98. doi: 10.1186/s13052-023-01501-z. PMID: 37580732Free PMC Article
Bogusz-Wójcik A, Kołodziejczyk H, Moszczyńska E, Klaudel-Dreszler M, Oracz G, Pawłowska J, Szalecki M
Endokrynol Pol 2021;72(3):211-216. Epub 2021 Feb 23 doi: 10.5603/EP.a2021.0014. PMID: 33619711
Shalitin S, Pertman L, Yackobovitch-Gavan M, Yaniv I, Lebenthal Y, Phillip M, Stein J
Horm Res Paediatr 2018;89(2):108-121. Epub 2018 Jan 19 doi: 10.1159/000486034. PMID: 29353275
Williams TB, Daniels M, Puthenveetil G, Chang R, Wang RY, Abdenur JE
Mol Genet Metab 2012 May;106(1):104-7. Epub 2012 Jan 28 doi: 10.1016/j.ymgme.2012.01.018. PMID: 22424738
Gana S, Sainati L, Frau MR, Monciotti C, Poli F, Cannioto Z, Comelli M, Danesino C, Minelli A
Exp Clin Endocrinol Diabetes 2011 Nov;119(10):610-2. Epub 2011 May 6 doi: 10.1055/s-0031-1275699. PMID: 21553366

Therapy

Zhang Y, He Y, Wang S, Sun J, Jia J, Gong Y, He G, Li J
Front Immunol 2023;14:1197982. Epub 2023 Jul 11 doi: 10.3389/fimmu.2023.1197982. PMID: 37497227Free PMC Article
Dalla Via V, Halter JP, Gerull S, Arranto C, Tichelli A, Heim D, Passweg JR, Medinger M, Cesana-Nigro N
In Vivo 2020 Nov-Dec;34(6):3545-3549. doi: 10.21873/invivo.12197. PMID: 33144466Free PMC Article
Tzoran I, Hoffman R, Monreal M
Semin Thromb Hemost 2018 Oct;44(7):624-631. Epub 2018 Jun 19 doi: 10.1055/s-0038-1657779. PMID: 29920621
Williams TB, Daniels M, Puthenveetil G, Chang R, Wang RY, Abdenur JE
Mol Genet Metab 2012 May;106(1):104-7. Epub 2012 Jan 28 doi: 10.1016/j.ymgme.2012.01.018. PMID: 22424738
De Samblanx H, Verhoef G, Zachée P, Vandenberghe P
Ann Hematol 2004 Jul;83(7):455-9. Epub 2004 Mar 18 doi: 10.1007/s00277-003-0828-5. PMID: 15034757

Prognosis

Navasardyan LV, Furlan I, Brandt S, Schulz A, Wabitsch M, Denzer C
Ital J Pediatr 2023 Aug 14;49(1):98. doi: 10.1186/s13052-023-01501-z. PMID: 37580732Free PMC Article
Zhang Y, He Y, Wang S, Sun J, Jia J, Gong Y, He G, Li J
Front Immunol 2023;14:1197982. Epub 2023 Jul 11 doi: 10.3389/fimmu.2023.1197982. PMID: 37497227Free PMC Article
Samman Tahhan A, Hammadah M, Raad M, Almuwaqqat Z, Alkhoder A, Sandesara PB, Mohamed-Kelli H, Hayek SS, Kim JH, O'Neal WT, Topel ML, Grant AJ, Sabbak N, Heinl RE, Gafeer MM, Obideen M, Kaseer B, Abdelhadi N, Ko YA, Liu C, Hesaroieh I, Mahar EA, Vaccarino V, Waller EK, Quyyumi AA
Circ Res 2018 May 25;122(11):1565-1575. Epub 2018 Mar 7 doi: 10.1161/CIRCRESAHA.118.312821. PMID: 29514830Free PMC Article
Chen XY, Zhao SY, Wang Y, Wang D, Dong CH, Yang Y, Wang ZH, Wu YM
Mitochondrial DNA A DNA Mapp Seq Anal 2016 Jul;27(4):2492-5. Epub 2015 May 27 doi: 10.3109/19401736.2015.1033712. PMID: 26016877
Sato T, Muroya K, Hanakawa J, Iwano R, Asakura Y, Tanaka Y, Murayama K, Ohtake A, Hasegawa T, Adachi M
Eur J Pediatr 2015 Dec;174(12):1593-602. Epub 2015 Jun 16 doi: 10.1007/s00431-015-2576-7. PMID: 26074369

Clinical prediction guides

Ungar RA, Giri N, Pao M, Khincha PP, Zhou W, Alter BP, Savage SA
Am J Med Genet A 2018 Jun;176(6):1432-1437. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38706. PMID: 29696773Free PMC Article
Samman Tahhan A, Hammadah M, Raad M, Almuwaqqat Z, Alkhoder A, Sandesara PB, Mohamed-Kelli H, Hayek SS, Kim JH, O'Neal WT, Topel ML, Grant AJ, Sabbak N, Heinl RE, Gafeer MM, Obideen M, Kaseer B, Abdelhadi N, Ko YA, Liu C, Hesaroieh I, Mahar EA, Vaccarino V, Waller EK, Quyyumi AA
Circ Res 2018 May 25;122(11):1565-1575. Epub 2018 Mar 7 doi: 10.1161/CIRCRESAHA.118.312821. PMID: 29514830Free PMC Article
Dos Santos RS, Daures M, Philippi A, Romero S, Marselli L, Marchetti P, Senée V, Bacq D, Besse C, Baz B, Marroquí L, Ivanoff S, Masliah-Planchon J, Nicolino M, Soulier J, Socié G, Eizirik DL, Gautier JF, Julier C
Diabetes 2017 Apr;66(4):1086-1096. Epub 2017 Jan 10 doi: 10.2337/db16-0839. PMID: 28073829
De Samblanx H, Verhoef G, Zachée P, Vandenberghe P
Ann Hematol 2004 Jul;83(7):455-9. Epub 2004 Mar 18 doi: 10.1007/s00277-003-0828-5. PMID: 15034757

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...