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Inherited aplastic anemia

MedGen UID:
1826154
•Concept ID:
C5681331
•
Disease or Syndrome
Synonyms: congenital aplastic anaemia; congenital aplastic anemia; congenital hypoplastic anaemia; congenital hypoplastic anemia; constitutional aplastic anaemia; constitutional aplastic anemia; hereditary aplastic anaemia; hereditary aplastic anemia; hypoplastic anaemia - familial; hypoplastic anemia - familial; inherited aplastic anemia; Rare constitutional aplastic anemia
 
Monarch Initiative: MONDO:0001713
Orphanet: ORPHA68383

Definition

An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Inherited aplastic anemia

Professional guidelines

PubMed

Differential diagnosis of bone marrow failure syndromes guided by machine learning.
Gutierrez-Rodrigues F, Munger E, Ma X, Groarke EM, Tang Y, Patel BA, Catto LFB, Clé DV, Niewisch MR, Alves-Paiva RM, Donaires FS, Pinto AL, Borges G, Santana BA, McReynolds LJ, Giri N, Altintas B, Fan X, Shalhoub R, Siwy CM, Diamond C, Raffo DQ, Craft K, Kajigaya S, Summers RM, Liu P, Cunningham L, Hickstein DD, Dunbar CE, Pasquini R, De Oliveira MM, Velloso EDRP, Alter BP, Savage SA, Bonfim C, Wu CO, Calado RT, Young NS
Blood 2023 Apr 27;141(17):2100-2113. doi: 10.1182/blood.2022017518. PMID: 36542832Free PMC Article

Recent clinical studies

Etiology

Differential diagnosis of bone marrow failure syndromes guided by machine learning.
Gutierrez-Rodrigues F, Munger E, Ma X, Groarke EM, Tang Y, Patel BA, Catto LFB, Clé DV, Niewisch MR, Alves-Paiva RM, Donaires FS, Pinto AL, Borges G, Santana BA, McReynolds LJ, Giri N, Altintas B, Fan X, Shalhoub R, Siwy CM, Diamond C, Raffo DQ, Craft K, Kajigaya S, Summers RM, Liu P, Cunningham L, Hickstein DD, Dunbar CE, Pasquini R, De Oliveira MM, Velloso EDRP, Alter BP, Savage SA, Bonfim C, Wu CO, Calado RT, Young NS
Blood 2023 Apr 27;141(17):2100-2113. doi: 10.1182/blood.2022017518. PMID: 36542832Free PMC Article

Diagnosis

Of gains and losses: SAMD9/SAMD9L and monosomy 7 in myelodysplastic syndrome.
Cammenga J
Exp Hematol 2024 Jun;134:104217. Epub 2024 Apr 20 doi: 10.1016/j.exphem.2024.104217. PMID: 38649131
Differential diagnosis of bone marrow failure syndromes guided by machine learning.
Gutierrez-Rodrigues F, Munger E, Ma X, Groarke EM, Tang Y, Patel BA, Catto LFB, Clé DV, Niewisch MR, Alves-Paiva RM, Donaires FS, Pinto AL, Borges G, Santana BA, McReynolds LJ, Giri N, Altintas B, Fan X, Shalhoub R, Siwy CM, Diamond C, Raffo DQ, Craft K, Kajigaya S, Summers RM, Liu P, Cunningham L, Hickstein DD, Dunbar CE, Pasquini R, De Oliveira MM, Velloso EDRP, Alter BP, Savage SA, Bonfim C, Wu CO, Calado RT, Young NS
Blood 2023 Apr 27;141(17):2100-2113. doi: 10.1182/blood.2022017518. PMID: 36542832Free PMC Article
Chromosomal aberrations in two cases of inherited aplastic anemia with unusual clinical features.
Hirschman RJ, Shulman NR, Abuelo JG, Whang-Peng J
Ann Intern Med 1969 Jul;71(1):107-17. doi: 10.7326/0003-4819-71-1-107. PMID: 4307177

Therapy

Calcitriol for Oral Mucositis Prevention in Patients With Fanconi Anemia Undergoing Hematopoietic SCT: A Double-Blind, Randomized, Placebo-Controlled Trial.
Hamidieh AA, Sherafatmand M, Mansouri A, Hadjibabaie M, Ashouri A, Jahangard-Rafsanjani Z, Gholami K, Javadi MR, Ghavamzadeh A, Radfar M
Am J Ther 2016 Nov/Dec;23(6):e1700-e1708. doi: 10.1097/MJT.0000000000000269. PMID: 26164019
Chromosomal aberrations in two cases of inherited aplastic anemia with unusual clinical features.
Hirschman RJ, Shulman NR, Abuelo JG, Whang-Peng J
Ann Intern Med 1969 Jul;71(1):107-17. doi: 10.7326/0003-4819-71-1-107. PMID: 4307177

Prognosis

Differential diagnosis of bone marrow failure syndromes guided by machine learning.
Gutierrez-Rodrigues F, Munger E, Ma X, Groarke EM, Tang Y, Patel BA, Catto LFB, Clé DV, Niewisch MR, Alves-Paiva RM, Donaires FS, Pinto AL, Borges G, Santana BA, McReynolds LJ, Giri N, Altintas B, Fan X, Shalhoub R, Siwy CM, Diamond C, Raffo DQ, Craft K, Kajigaya S, Summers RM, Liu P, Cunningham L, Hickstein DD, Dunbar CE, Pasquini R, De Oliveira MM, Velloso EDRP, Alter BP, Savage SA, Bonfim C, Wu CO, Calado RT, Young NS
Blood 2023 Apr 27;141(17):2100-2113. doi: 10.1182/blood.2022017518. PMID: 36542832Free PMC Article
Chromosomal aberrations in two cases of inherited aplastic anemia with unusual clinical features.
Hirschman RJ, Shulman NR, Abuelo JG, Whang-Peng J
Ann Intern Med 1969 Jul;71(1):107-17. doi: 10.7326/0003-4819-71-1-107. PMID: 4307177

Clinical prediction guides

Differential diagnosis of bone marrow failure syndromes guided by machine learning.
Gutierrez-Rodrigues F, Munger E, Ma X, Groarke EM, Tang Y, Patel BA, Catto LFB, Clé DV, Niewisch MR, Alves-Paiva RM, Donaires FS, Pinto AL, Borges G, Santana BA, McReynolds LJ, Giri N, Altintas B, Fan X, Shalhoub R, Siwy CM, Diamond C, Raffo DQ, Craft K, Kajigaya S, Summers RM, Liu P, Cunningham L, Hickstein DD, Dunbar CE, Pasquini R, De Oliveira MM, Velloso EDRP, Alter BP, Savage SA, Bonfim C, Wu CO, Calado RT, Young NS
Blood 2023 Apr 27;141(17):2100-2113. doi: 10.1182/blood.2022017518. PMID: 36542832Free PMC Article

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