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Macrocytosis, familial

MedGen UID:
333150
Concept ID:
C1838656
Disease or Syndrome
Synonym: Macrocytosis, Familial
 
Monarch Initiative: MONDO:0010812
OMIM®: 600084

Clinical features

From HPO
Abnormality of blood and blood-forming tissues
MedGen UID:
163092
Concept ID:
C0850715
Finding
An abnormality of the hematopoietic system.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Recent clinical studies

Etiology

Katada C, Yokoyama T, Yano T, Oda I, Shimizu Y, Doyama H, Koike T, Takizawa K, Hirao M, Okada H, Yoshii T, Kubota Y, Yamanouchi T, Tsuda T, Omori T, Kobayashi N, Suzuki H, Tanabe S, Hori K, Nakayama N, Kawakubo H, Kakushima N, Matsuo Y, Ishikawa H, Yokoyama A, Muto M
Esophagus 2020 Apr;17(2):149-158. Epub 2019 Jul 8 doi: 10.1007/s10388-019-00685-w. PMID: 31281950
Faleschini M, Melazzini F, Marconi C, Giangregorio T, Pippucci T, Cigalini E, Pecci A, Bottega R, Ramenghi U, Siitonen T, Seri M, Pastore A, Savoia A, Noris P
Br J Haematol 2018 Oct;183(2):276-288. Epub 2018 Oct 23 doi: 10.1111/bjh.15531. PMID: 30351444
Martínez-Macías FJ, Bobadilla-Morales L, González-Cruz J, Quiles-Corona M, Corona-Rivera A, Peña-Padilla C, Orozco-Vela M, Silva-Cruz R, Velarde-Rivera F, Corona-Rivera JR
Am J Med Genet A 2017 Apr;173(4):897-904. Epub 2017 Feb 7 doi: 10.1002/ajmg.a.38097. PMID: 28168815
Aslan D
J Pediatr Hematol Oncol 2017 Oct;39(7):570-572. doi: 10.1097/MPH.0000000000000749. PMID: 28060124
Toh BH, Kyaw T, Taylor R, Pollock W, Schlumberger W
Autoimmunity 2012 Nov;45(7):527-32. Epub 2012 Aug 21 doi: 10.3109/08916934.2012.702813. PMID: 22779747

Diagnosis

Faleschini M, Melazzini F, Marconi C, Giangregorio T, Pippucci T, Cigalini E, Pecci A, Bottega R, Ramenghi U, Siitonen T, Seri M, Pastore A, Savoia A, Noris P
Br J Haematol 2018 Oct;183(2):276-288. Epub 2018 Oct 23 doi: 10.1111/bjh.15531. PMID: 30351444
Martínez-Macías FJ, Bobadilla-Morales L, González-Cruz J, Quiles-Corona M, Corona-Rivera A, Peña-Padilla C, Orozco-Vela M, Silva-Cruz R, Velarde-Rivera F, Corona-Rivera JR
Am J Med Genet A 2017 Apr;173(4):897-904. Epub 2017 Feb 7 doi: 10.1002/ajmg.a.38097. PMID: 28168815
Aslan D
J Pediatr Hematol Oncol 2017 Oct;39(7):570-572. doi: 10.1097/MPH.0000000000000749. PMID: 28060124
Cattivelli K, Campagna DR, Schmitz-Abe K, Heeney MM, Yaish HM, Caruso Brown AE, Kearney S, Walkovich K, Markianos K, Fleming MD, Neufeld EJ
Pediatr Blood Cancer 2017 May;64(5) Epub 2016 Nov 3 doi: 10.1002/pbc.26324. PMID: 27808451Free PMC Article
Toh BH, Kyaw T, Taylor R, Pollock W, Schlumberger W
Autoimmunity 2012 Nov;45(7):527-32. Epub 2012 Aug 21 doi: 10.3109/08916934.2012.702813. PMID: 22779747

Therapy

Katada C, Yokoyama T, Yano T, Oda I, Shimizu Y, Doyama H, Koike T, Takizawa K, Hirao M, Okada H, Yoshii T, Kubota Y, Yamanouchi T, Tsuda T, Omori T, Kobayashi N, Suzuki H, Tanabe S, Hori K, Nakayama N, Kawakubo H, Kakushima N, Matsuo Y, Ishikawa H, Yokoyama A, Muto M
Esophagus 2020 Apr;17(2):149-158. Epub 2019 Jul 8 doi: 10.1007/s10388-019-00685-w. PMID: 31281950

Prognosis

Katada C, Yokoyama T, Yano T, Oda I, Shimizu Y, Doyama H, Koike T, Takizawa K, Hirao M, Okada H, Yoshii T, Kubota Y, Yamanouchi T, Tsuda T, Omori T, Kobayashi N, Suzuki H, Tanabe S, Hori K, Nakayama N, Kawakubo H, Kakushima N, Matsuo Y, Ishikawa H, Yokoyama A, Muto M
Esophagus 2020 Apr;17(2):149-158. Epub 2019 Jul 8 doi: 10.1007/s10388-019-00685-w. PMID: 31281950
Faleschini M, Melazzini F, Marconi C, Giangregorio T, Pippucci T, Cigalini E, Pecci A, Bottega R, Ramenghi U, Siitonen T, Seri M, Pastore A, Savoia A, Noris P
Br J Haematol 2018 Oct;183(2):276-288. Epub 2018 Oct 23 doi: 10.1111/bjh.15531. PMID: 30351444
Goubeaux DL, Li W
Blood 2018 Jan 4;131(1):153. doi: 10.1182/blood-2017-10-809178. PMID: 29301775

Clinical prediction guides

Katada C, Yokoyama T, Yano T, Oda I, Shimizu Y, Doyama H, Koike T, Takizawa K, Hirao M, Okada H, Yoshii T, Kubota Y, Yamanouchi T, Tsuda T, Omori T, Kobayashi N, Suzuki H, Tanabe S, Hori K, Nakayama N, Kawakubo H, Kakushima N, Matsuo Y, Ishikawa H, Yokoyama A, Muto M
Esophagus 2020 Apr;17(2):149-158. Epub 2019 Jul 8 doi: 10.1007/s10388-019-00685-w. PMID: 31281950
Aslan D
J Pediatr Hematol Oncol 2017 Oct;39(7):570-572. doi: 10.1097/MPH.0000000000000749. PMID: 28060124

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