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Hemolytic anemia due to adenylate kinase deficiency(CNSHA3)

MedGen UID:
390802
•Concept ID:
C2675459
•
Disease or Syndrome
Synonyms: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 3; CNSHA3
SNOMED CT: Hemolytic anemia due to adenylate kinase deficiency (766982000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): AK1 (9q34.11)
 
Monarch Initiative: MONDO:0012967
OMIM®: 612631
Orphanet: ORPHA86817

Definition

A rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment. [from SNOMEDCT_US]

Clinical features

From HPO
Hemolytic anemia
MedGen UID:
1916
•Concept ID:
C0002878
•
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
See: Feature record | Search on this feature
Reduced erythrocyte adenylate kinase activity
MedGen UID:
1053214
•Concept ID:
CN377390
•
Finding
Activity or concentration of in the level of adenylate kinase (EC 2.7.4.3) in erythrocytes below the lower limit of normal. Adenylate kinase is a ubiquitous monomeric enzyme that catalyzes the reversible conversion of MgATP plus AMP to MgADP plus ADP and contributes to homeostasis of the adenine nucleotide composition in the cell.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemolytic anemia due to adenylate kinase deficiency
Follow this link to review classifications for Hemolytic anemia due to adenylate kinase deficiency in Orphanet.

Recent clinical studies

Etiology

Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA).
He S, Chen H, Guo X, Gao J
BMC Med Genomics 2022 May 4;15(1):102. doi: 10.1186/s12920-022-01248-2. PMID: 35509045Free PMC Article
Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.
Fattizzo B, Giannotta JA, Cecchi N, Barcellini W
Orphanet J Rare Dis 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4. PMID: 34627331Free PMC Article
Pyrimidine 5'-nucleotidase acquired deficiency in beta-thalassemia: involvement of enzyme-SH groups in the inactivation process.
David O, Vota MG, Piga A, Ramenghi U, Bosia A, Pescarmona GP
Acta Haematol 1989;82(2):69-74. doi: 10.1159/000205286. PMID: 2552730
A genetic survey in the Bhil tribe of Madhya Pradesh, Central India.
Papiha SS, Roberts DF, Mukerjee DP, Singh SD, Malhotra M
Am J Phys Anthropol 1978 Aug;49(2):179-85. doi: 10.1002/ajpa.1330490205. PMID: 717553
Anthropological studies among Libyans. Erythrocyte genetic factors, serum haptoglobin phenotypes and anthropometry.
Kamel K, 'Umar M, Ibrahim W, Mansour A, Gaballah F, Selim O, Azim A, Hamza S, Sabry F, Moafy N, El-naggar A, Hoerman K
Am J Phys Anthropol 1975 Jul;43(1):103-11. doi: 10.1002/ajpa.1330430114. PMID: 808138

Diagnosis

Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA).
He S, Chen H, Guo X, Gao J
BMC Med Genomics 2022 May 4;15(1):102. doi: 10.1186/s12920-022-01248-2. PMID: 35509045Free PMC Article
Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.
Fattizzo B, Giannotta JA, Cecchi N, Barcellini W
Orphanet J Rare Dis 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4. PMID: 34627331Free PMC Article
Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A).
Dongerdiye R, Kamat P, Jain P, Warang P, Devendra R, Wasekar N, Sharma R, Mhaskar K, Madkaikar MR, Manglani MV, Kedar PS
J Clin Pathol 2019 Jun;72(6):393-398. Epub 2019 Mar 27 doi: 10.1136/jclinpath-2019-205718. PMID: 30918013
Splenectomy resolves hemolytic anemia caused by adenylate kinase deficiency.
Niizuma H, Kanno H, Sato A, Ogura H, Imaizumi M
Pediatr Int 2017 Feb;59(2):228-230. doi: 10.1111/ped.13166. PMID: 28211224
Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.
Abrusci P, Chiarelli LR, Galizzi A, Fermo E, Bianchi P, Zanella A, Valentini G
Exp Hematol 2007 Aug;35(8):1182-9. doi: 10.1016/j.exphem.2007.05.004. PMID: 17662886

Therapy

Erythrocyte enzyme deficiencies assessed with a miniature centrifugal analyzer.
Fielek S, Mohrenweiser HW
Clin Chem 1979 Mar;25(3):384-8. PMID: 162438

Prognosis

Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.
Fattizzo B, Giannotta JA, Cecchi N, Barcellini W
Orphanet J Rare Dis 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4. PMID: 34627331Free PMC Article
Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family.
Dongerdiye R, Sampagar A, Devendra R, Warang P, Kedar P
BMC Med Genomics 2021 Jul 28;14(1):191. doi: 10.1186/s12920-021-01038-2. PMID: 34321014Free PMC Article
Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia.
Corrons JL, Garcia E, Tusell JJ, Varughese KI, West C, Beutler E
Blood 2003 Jul 1;102(1):353-6. Epub 2003 Mar 20 doi: 10.1182/blood-2002-07-2288. PMID: 12649162

Clinical prediction guides

Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family.
Dongerdiye R, Sampagar A, Devendra R, Warang P, Kedar P
BMC Med Genomics 2021 Jul 28;14(1):191. doi: 10.1186/s12920-021-01038-2. PMID: 34321014Free PMC Article
Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia.
Corrons JL, Garcia E, Tusell JJ, Varughese KI, West C, Beutler E
Blood 2003 Jul 1;102(1):353-6. Epub 2003 Mar 20 doi: 10.1182/blood-2002-07-2288. PMID: 12649162
Deficiencies of glycolytic enzymes as a possible cause of hemolytic anemia.
Martinov MV, Plotnikov AG, Vitvitsky VM, Ataullakhanov FI
Biochim Biophys Acta 2000 Mar 6;1474(1):75-87. doi: 10.1016/s0304-4165(99)00218-4. PMID: 10699493
Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase.
Matsuura S, Igarashi M, Tanizawa Y, Yamada M, Kishi F, Kajii T, Fujii H, Miwa S, Sakurai M, Nakazawa A
J Biol Chem 1989 Jun 15;264(17):10148-55. PMID: 2542324
PGI*3(Israel), a new, unstable allele in the phosphoglucose isomerase system.
Bonné-Tamir B, Papiha SS, Ashbel S, Brok-Simoni F, Kende G, Ramot B
Hum Genet 1987 Sep;77(1):76-9. doi: 10.1007/BF00284718. PMID: 3476458

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