HAAKD
MCID: ADN085
MIFTS: 21

Adenylate Kinase Deficiency, Hemolytic Anemia Due to (HAAKD)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

MalaCards integrated aliases for Adenylate Kinase Deficiency, Hemolytic Anemia Due to:

Name: Adenylate Kinase Deficiency, Hemolytic Anemia Due to 56 29 6 39
Hemolytic Anemia Due to Adenylate Kinase Deficiency 56 58 73 13
Haakd 73

Characteristics:

Orphanet epidemiological data:

58
hemolytic anemia due to adenylate kinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
adenylate kinase deficiency, hemolytic anemia due to:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM 56 612631
MeSH 43 D000745
ICD10 via Orphanet 33 D55.3
UMLS via Orphanet 72 C2675459
Orphanet 58 ORPHA86817
MedGen 41 C2675459
SNOMED-CT via HPO 68 258211005 61261009

Summaries for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

UniProtKB/Swiss-Prot : 73 Hemolytic anemia due to adenylate kinase deficiency: A disease characterized by hemolytic anemia and undetectable erythrocyte adenylate kinase activity.

MalaCards based summary : Adenylate Kinase Deficiency, Hemolytic Anemia Due to, is also known as hemolytic anemia due to adenylate kinase deficiency. An important gene associated with Adenylate Kinase Deficiency, Hemolytic Anemia Due to is AK1 (Adenylate Kinase 1). Related phenotype is hemolytic anemia.

More information from OMIM: 612631

Related Diseases for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

Symptoms & Phenotypes for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

Human phenotypes related to Adenylate Kinase Deficiency, Hemolytic Anemia Due to:

31
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 31 HP:0001878

Symptoms via clinical synopsis from OMIM:

56
Hematology:
hemolytic anemia
red cell adenylate kinase deficiency

Clinical features from OMIM:

612631

Drugs & Therapeutics for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

Search Clinical Trials , NIH Clinical Center for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

Genetic Tests for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

Genetic tests related to Adenylate Kinase Deficiency, Hemolytic Anemia Due to:

# Genetic test Affiliating Genes
1 Adenylate Kinase Deficiency, Hemolytic Anemia Due to 29 AK1

Anatomical Context for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

Publications for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

Articles related to Adenylate Kinase Deficiency, Hemolytic Anemia Due to:

(show all 14)
# Title Authors PMID Year
1
A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia. 56 6
10233365 1999
2
Severe erythrocyte adenylate kinase deficiency due to homozygous A-->G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia. 56 6
9432020 1997
3
Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase. 6 56
2542324 1989
4
A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia. 6
15315793 2004
5
Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia. 6
12649162 2003
6
Congenital haemolytic anaemia associated with adenylate kinase deficiency. 56
7947281 1994
7
Hereditary erythrocyte adenylate kinase deficiency: a defect of multiple phosphotransferases? 56
1646049 1991
8
Metabolic compensation for profound erythrocyte adenylate kinase deficiency. A hereditary enzyme defect without hemolytic anemia. 56
6308059 1983
9
Red cell adenylate kinase deficiency associated with hereditary nonspherocytic hemolytic anemia: clinical and biochemical studies. 56
6305188 1983
10
Half-normal adenylate kinase activity in three generations. 56
5571743 1971
11
[A new erythroenzymopathy: congenital non-spherocytic hemolytic anemia and hereditary erythrocytic adenylate kinase deficiency]. 56
5546784 1971
12
[Congenital deficiency erythrocyte adenylate-kinase]. 56
5429371 1970
13
Erythrocyte adenylate-kinase deficiency. 56
4179026 1969
14
Hereditary deficiency of adenylate kinase in red blood cell. 56
4982580 1969

Variations for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

ClinVar genetic disease variations for Adenylate Kinase Deficiency, Hemolytic Anemia Due to:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AK1 NM_000476.2(AK1):c.382C>T (p.Arg128Trp)SNV Pathogenic 18263 rs104894101 9:130630734-130630734 9:127868455-127868455
2 AK1 NM_000476.2(AK1):c.319C>T (p.Arg107Ter)SNV Pathogenic 18264 rs104894102 9:130634107-130634107 9:127871828-127871828
3 AK1 NM_000476.2(AK1):c.491A>G (p.Tyr164Cys)SNV Pathogenic 18265 rs137853203 9:130630625-130630625 9:127868346-127868346
4 AK1 NM_000476.2(AK1):c.118G>A (p.Gly40Arg)SNV Pathogenic 18266 rs137853204 9:130635058-130635058 9:127872779-127872779
5 AK1 NM_000476.2(AK1):c.190G>A (p.Gly64Arg)SNV Pathogenic 18267 rs137853205 9:130634986-130634986 9:127872707-127872707
6 AK1 NM_001318121.1(AK1):c.418_420GAC[1] (p.Asp141del)short repeat Pathogenic 18268 rs387906582 9:130630693-130630695 9:127868414-127868416
7 AK1 NM_000476.2(AK1):c.139del (p.Val47fs)deletion Pathogenic 18269 rs387906583 9:130635037-130635037 9:127872758-127872758
8 AK1 NM_000476.2(AK1):c.530G>T (p.Gly177Val)SNV Uncertain significance 811970 9:130630342-130630342 9:127868063-127868063
9 AK1 NM_000476.2(AK1):c.90G>T (p.Gln30His)SNV Uncertain significance 812011 9:130635086-130635086 9:127872807-127872807
10 AK1 NM_000476.2(AK1):c.516+11C>ASNV Benign 811655 9:130630589-130630589 9:127868310-127868310
11 AK1 NM_000476.2(AK1):c.367G>C (p.Glu123Gln)SNV Benign 402354 rs8192462 9:130630749-130630749 9:127868470-127868470
12 AK1 NM_000476.2(AK1):c.186G>A (p.Glu62=)SNV Benign 617970 rs61742069 9:130634990-130634990 9:127872711-127872711

UniProtKB/Swiss-Prot genetic disease variations for Adenylate Kinase Deficiency, Hemolytic Anemia Due to:

73
# Symbol AA change Variation ID SNP ID
1 AK1 p.Arg128Trp VAR_004021 rs104894101
2 AK1 p.Gly40Arg VAR_055337 rs137853204
3 AK1 p.Gly64Arg VAR_055338 rs137853205
4 AK1 p.Tyr164Cys VAR_055340 rs137853203

Expression for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

Search GEO for disease gene expression data for Adenylate Kinase Deficiency, Hemolytic Anemia Due to.

Pathways for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

GO Terms for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

Sources for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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