HAAKD
MCID: ADN085
MIFTS: 17

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 58 30 6 41
Hemolytic Anemia Due to Adenylate Kinase Deficiency 58 60 76 13
Haakd 76

Characteristics:

Orphanet epidemiological data:

60
hemolytic anemia due to adenylate kinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
adenylate kinase deficiency, hemolytic anemia due to:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 612631
MeSH 45 D000745
ICD10 via Orphanet 35 D55.3
UMLS via Orphanet 75 C2675459
Orphanet 60 ORPHA86817
MedGen 43 C2675459
SNOMED-CT via HPO 70 258211005 61261009

Summaries for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

UniProtKB/Swiss-Prot : 76 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.

Description 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:

33
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 33 HP:0001878

Symptoms via clinical synopsis from OMIM:

58
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 30 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:

# Title Authors Year
1
A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia. ( 15315793 )
2004
2
Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia. ( 12649162 )
2003
3
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. ( 10233365 )
1999
4
Severe erythrocyte adenylate kinase deficiency due to homozygous A-->G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia. ( 9432020 )
1997
5
Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase. ( 2542324 )
1989

Variations for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

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

76
# 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

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

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 AK1 NM_000476.2(AK1): c.382C> T (p.Arg128Trp) single nucleotide variant Pathogenic rs104894101 GRCh37 Chromosome 9, 130630734: 130630734
2 AK1 NM_000476.2(AK1): c.382C> T (p.Arg128Trp) single nucleotide variant Pathogenic rs104894101 GRCh38 Chromosome 9, 127868455: 127868455
3 AK1 NM_000476.2(AK1): c.319C> T (p.Arg107Ter) single nucleotide variant Pathogenic rs104894102 GRCh37 Chromosome 9, 130634107: 130634107
4 AK1 NM_000476.2(AK1): c.319C> T (p.Arg107Ter) single nucleotide variant Pathogenic rs104894102 GRCh38 Chromosome 9, 127871828: 127871828
5 AK1 NM_000476.2(AK1): c.491A> G (p.Tyr164Cys) single nucleotide variant Pathogenic rs137853203 GRCh37 Chromosome 9, 130630625: 130630625
6 AK1 NM_000476.2(AK1): c.491A> G (p.Tyr164Cys) single nucleotide variant Pathogenic rs137853203 GRCh38 Chromosome 9, 127868346: 127868346
7 AK1 NM_000476.2(AK1): c.118G> A (p.Gly40Arg) single nucleotide variant Pathogenic rs137853204 GRCh37 Chromosome 9, 130635058: 130635058
8 AK1 NM_000476.2(AK1): c.118G> A (p.Gly40Arg) single nucleotide variant Pathogenic rs137853204 GRCh38 Chromosome 9, 127872779: 127872779
9 AK1 NM_000476.2(AK1): c.190G> A (p.Gly64Arg) single nucleotide variant Pathogenic rs137853205 GRCh37 Chromosome 9, 130634986: 130634986
10 AK1 NM_000476.2(AK1): c.190G> A (p.Gly64Arg) single nucleotide variant Pathogenic rs137853205 GRCh38 Chromosome 9, 127872707: 127872707
11 AK1 NM_000476.2(AK1): c.421_423delGAC (p.Asp141del) deletion Pathogenic rs387906582 GRCh37 Chromosome 9, 130630693: 130630695
12 AK1 NM_000476.2(AK1): c.421_423delGAC (p.Asp141del) deletion Pathogenic rs387906582 GRCh38 Chromosome 9, 127868414: 127868416
13 AK1 NM_000476.2(AK1): c.139delG (p.Val47Serfs) deletion Pathogenic rs387906583 GRCh37 Chromosome 9, 130635037: 130635037
14 AK1 NM_000476.2(AK1): c.139delG (p.Val47Serfs) deletion Pathogenic rs387906583 GRCh38 Chromosome 9, 127872758: 127872758

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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