MCID: ADN085
MIFTS: 14

Adenylate Kinase Deficiency, Hemolytic Anemia Due to

Categories: Genetic diseases, Blood 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 57 29 6 40
Hemolytic Anemia Due to Adenylate Kinase Deficiency 57 59 75 13
Haakd 75

Characteristics:

Orphanet epidemiological data:

59
hemolytic anemia due to adenylate kinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
adenylate kinase deficiency, hemolytic anemia due to:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612631
Orphanet 59 ORPHA86817
ICD10 via Orphanet 34 D55.3
UMLS via Orphanet 74 C2675459
MedGen 42 C2675459
MeSH 44 D000745
SNOMED-CT via HPO 69 258211005 61261009

Summaries for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Hematology:
hemolytic anemia
red cell adenylate kinase deficiency


Clinical features from OMIM:

612631

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

32
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 32 HP:0001878

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

Variations for Adenylate Kinase Deficiency, Hemolytic Anemia Due to

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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