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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

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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