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Myeloproliferative disease, autosomal recessive

MedGen UID:
338119
•Concept ID:
C1850779
•
Disease or Syndrome
Synonym: Myeloproliferative Disease, Autosomal Recessive
 
Monarch Initiative: MONDO:0009695
OMIM®: 254700

Clinical features

From HPO
Myeloproliferative disorder
MedGen UID:
10147
•Concept ID:
C0027022
•
Neoplastic Process
Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
See: Feature record | Search on this feature
Reduced leukocyte alkaline phosphatase
MedGen UID:
338120
•Concept ID:
C1850780
•
Finding
Decreased alkaline phosphatase measured within leukocytes.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Congenital neutropenia: disease models guiding new treatment strategies.
Touw IP
Curr Opin Hematol 2022 Jan 1;29(1):27-33. doi: 10.1097/MOH.0000000000000696. PMID: 34854832Free PMC Article
Urolithiasis in children: current medical management.
Laufer J, Boichis H
Pediatr Nephrol 1989 Jul;3(3):317-31. doi: 10.1007/BF00858542. PMID: 2702115

Recent clinical studies

Etiology

Galactosaemia occurring in association with primary ovarian insufficiency, Addison's disease and chronic myeloid leukaemia.
Khoury B, Shakir MK, Hoang TD
BMJ Case Rep 2021 Aug 25;14(8) doi: 10.1136/bcr-2021-244788. PMID: 34433538Free PMC Article
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms.
Negri G, Crescenzi B, Colombo EA, Fontana L, Barba G, Arcioni F, Gervasini C, Mecucci C, Larizza L
Br J Haematol 2015 Nov;171(4):557-65. Epub 2015 Aug 25 doi: 10.1111/bjh.13651. PMID: 26306619
Osteopetrosis. Current clinical considerations.
Shapiro F
Clin Orthop Relat Res 1993 Sep;(294):34-44. PMID: 8358940

Diagnosis

Severe congenital neutropenia and chronic neutrophilic leukemia: an intriguing molecular connection unveiled by oncogenic mutations in CSF3R.
Touw IP, Beekman R
Haematologica 2013 Oct;98(10):1490-2. doi: 10.3324/haematol.2013.090571. PMID: 24091926Free PMC Article
Fatal familial infantile myelofibrosis.
Sheikha A
J Pediatr Hematol Oncol 2004 Mar;26(3):164-8. doi: 10.1097/00043426-200403000-00005. PMID: 15125608
Osteopetrosis. Current clinical considerations.
Shapiro F
Clin Orthop Relat Res 1993 Sep;(294):34-44. PMID: 8358940
Urolithiasis in children: current medical management.
Laufer J, Boichis H
Pediatr Nephrol 1989 Jul;3(3):317-31. doi: 10.1007/BF00858542. PMID: 2702115
Autosomal dominant osteosclerosis.
Gelman MI
Radiology 1977 Nov;125(2):289-96. doi: 10.1148/125.2.289. PMID: 198844

Therapy

5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.
Lahiji AP, Anderson KE, Chan A, Simon A, Desnick RJ, Ramanujam VMS
Mol Genet Metab 2020 Dec;131(4):418-423. Epub 2020 Oct 26 doi: 10.1016/j.ymgme.2020.10.011. PMID: 33199206
How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45.
Shadur B, Asherie N, Newburger PE, Stepensky P
Pediatr Blood Cancer 2019 Jan;66(1):e27473. Epub 2018 Oct 7 doi: 10.1002/pbc.27473. PMID: 30294941Free PMC Article
Therapeutic targeting of Janus kinases.
Pesu M, Laurence A, Kishore N, Zwillich SH, Chan G, O'Shea JJ
Immunol Rev 2008 Jun;223:132-42. doi: 10.1111/j.1600-065X.2008.00644.x. PMID: 18613833Free PMC Article
Osteopetrosis. Current clinical considerations.
Shapiro F
Clin Orthop Relat Res 1993 Sep;(294):34-44. PMID: 8358940

Prognosis

5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.
Lahiji AP, Anderson KE, Chan A, Simon A, Desnick RJ, Ramanujam VMS
Mol Genet Metab 2020 Dec;131(4):418-423. Epub 2020 Oct 26 doi: 10.1016/j.ymgme.2020.10.011. PMID: 33199206
How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45.
Shadur B, Asherie N, Newburger PE, Stepensky P
Pediatr Blood Cancer 2019 Jan;66(1):e27473. Epub 2018 Oct 7 doi: 10.1002/pbc.27473. PMID: 30294941Free PMC Article
Fatal familial infantile myelofibrosis.
Sheikha A
J Pediatr Hematol Oncol 2004 Mar;26(3):164-8. doi: 10.1097/00043426-200403000-00005. PMID: 15125608
A patient with Werner's syndrome and erythroleukemia: just coincidence?
Bartal C, Yerushalmi R, Zilberman D, Yermiyahu T
Leuk Lymphoma 1996 May;21(5-6):509-13, color plate XXI following 5. doi: 10.3109/10428199609093452. PMID: 9172819
Osteopetrosis. Current clinical considerations.
Shapiro F
Clin Orthop Relat Res 1993 Sep;(294):34-44. PMID: 8358940

Clinical prediction guides

Coexistence of Hermansky-Pudlak syndrome and JAK2(V617F)-positive essential thrombocythemia.
Eskazan T, Erturkuner SP, Isildar B, Eskazan AE, Ar MC, Atay K, Baslar Z, Tasyurekli M
Ultrastruct Pathol 2019;43(1):94-98. Epub 2019 Apr 1 doi: 10.1080/01913123.2019.1593269. PMID: 30932722
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.
Hofmann I, Geer MJ, Vögtle T, Crispin A, Campagna DR, Barr A, Calicchio ML, Heising S, van Geffen JP, Kuijpers MJE, Heemskerk JWM, Eble JA, Schmitz-Abe K, Obeng EA, Douglas M, Freson K, Pondarré C, Favier R, Jarvis GE, Markianos K, Turro E, Ouwehand WH, Mazharian A, Fleming MD, Senis YA
Blood 2018 Sep 27;132(13):1399-1412. Epub 2018 Jun 13 doi: 10.1182/blood-2017-08-802769. PMID: 29898956Free PMC Article
Janus kinases in immune cell signaling.
Ghoreschi K, Laurence A, O'Shea JJ
Immunol Rev 2009 Mar;228(1):273-87. doi: 10.1111/j.1600-065X.2008.00754.x. PMID: 19290934Free PMC Article
Abnormal methylation of the common PARK2 and PACRG promoter is associated with downregulation of gene expression in acute lymphoblastic leukemia and chronic myeloid leukemia.
Agirre X, Román-Gómez J, Vázquez I, Jiménez-Velasco A, Garate L, Montiel-Duarte C, Artieda P, Cordeu L, Lahortiga I, Calasanz MJ, Heiniger A, Torres A, Minna JD, Prósper F
Int J Cancer 2006 Apr 15;118(8):1945-53. doi: 10.1002/ijc.21584. PMID: 16287063
Autosomal dominant osteosclerosis.
Gelman MI
Radiology 1977 Nov;125(2):289-96. doi: 10.1148/125.2.289. PMID: 198844

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