MCID: ERY039
MIFTS: 19

Erythrocyte Amp Deaminase Deficiency

Categories: Genetic diseases

Aliases & Classifications for Erythrocyte Amp Deaminase Deficiency

MalaCards integrated aliases for Erythrocyte Amp Deaminase Deficiency:

Name: Erythrocyte Amp Deaminase Deficiency 57 75 29 6 40 73
Adenosine Monophosphate Deaminase Deficiency Erythrocyte Type 75
Amp Deaminase Deficiency Erythrocyte Type 75
Amp Deaminase Deficiency, Erythrocytic 57
Ampdde 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
clinically asymptomatic
heterozygote frequency estimated at about 1/30 in japan, korea, and taiwan


HPO:

32
erythrocyte amp deaminase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612874
MedGen 42 C2752073
MeSH 44 D008659
SNOMED-CT via HPO 69 258211005
UMLS 73 C2752073

Summaries for Erythrocyte Amp Deaminase Deficiency

UniProtKB/Swiss-Prot : 75 Adenosine monophosphate deaminase deficiency erythrocyte type: A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders.

MalaCards based summary : Erythrocyte Amp Deaminase Deficiency, is also known as adenosine monophosphate deaminase deficiency erythrocyte type. An important gene associated with Erythrocyte Amp Deaminase Deficiency is AMPD3 (Adenosine Monophosphate Deaminase 3).

OMIM : 57 Complete deficiency of erythrocyte AMP deaminase is a clinically benign disorder (Ogasawara et al., 1987; Zydowo et al., 1989). (612874)

Related Diseases for Erythrocyte Amp Deaminase Deficiency

Symptoms & Phenotypes for Erythrocyte Amp Deaminase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Hematology:
erythrocyte amp deaminase deficiency


Clinical features from OMIM:

612874

Drugs & Therapeutics for Erythrocyte Amp Deaminase Deficiency

Search Clinical Trials , NIH Clinical Center for Erythrocyte Amp Deaminase Deficiency

Genetic Tests for Erythrocyte Amp Deaminase Deficiency

Genetic tests related to Erythrocyte Amp Deaminase Deficiency:

# Genetic test Affiliating Genes
1 Erythrocyte Amp Deaminase Deficiency 29 AMPD3

Anatomical Context for Erythrocyte Amp Deaminase Deficiency

Publications for Erythrocyte Amp Deaminase Deficiency

Articles related to Erythrocyte Amp Deaminase Deficiency:

# Title Authors Year
1
A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3. ( 11139257 )
2001
2
Erythrocyte amp deaminase deficiency in Japanese: a compound heterozygote responsible for the complete deficiency. ( 11783530 )
2000
3
Gene mutations responsible for human erythrocyte AMP deaminase deficiency in Poles. ( 9598089 )
1998
4
Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations. ( 7881427 )
1994
5
A point mutation responsible for human erythrocyte AMP deaminase deficiency. ( 8004104 )
1994
6
Gene mutations for human erythrocyte AMP deaminase deficiency. ( 7661002 )
1994

Variations for Erythrocyte Amp Deaminase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Erythrocyte Amp Deaminase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 AMPD3 p.Arg573Cys VAR_009881 rs3741040
2 AMPD3 p.Asn310Lys VAR_042606
3 AMPD3 p.Val311Leu VAR_042607 rs117706710
4 AMPD3 p.Ala320Val VAR_042608 rs147542803
5 AMPD3 p.Met324Thr VAR_042609 rs750004231
6 AMPD3 p.Arg331Cys VAR_042610 rs758038726
7 AMPD3 p.Arg402Cys VAR_042611 rs766280048
8 AMPD3 p.Trp450Arg VAR_042612
9 AMPD3 p.Pro585Leu VAR_042614 rs748852415
10 AMPD3 p.Gln712Pro VAR_042615

ClinVar genetic disease variations for Erythrocyte Amp Deaminase Deficiency:

6
(show top 50) (show all 114)
# Gene Variation Type Significance SNP ID Assembly Location
1 AMPD3 NM_001025389.1(AMPD3): c.1717C> T (p.Arg573Cys) single nucleotide variant Likely pathogenic rs3741040 GRCh37 Chromosome 11, 10521792: 10521792
2 AMPD3 NM_001025389.1(AMPD3): c.1717C> T (p.Arg573Cys) single nucleotide variant Likely pathogenic rs3741040 GRCh38 Chromosome 11, 10500245: 10500245
3 AMPD3 NM_001025389.1(AMPD3): c.-312A> G single nucleotide variant Likely benign rs899013 GRCh37 Chromosome 11, 10476689: 10476689
4 AMPD3 NM_001025389.1(AMPD3): c.-312A> G single nucleotide variant Likely benign rs899013 GRCh38 Chromosome 11, 10455142: 10455142
5 AMPD3 NM_001025389.1(AMPD3): c.-239G> C single nucleotide variant Benign rs899012 GRCh37 Chromosome 11, 10476762: 10476762
6 AMPD3 NM_001025389.1(AMPD3): c.-239G> C single nucleotide variant Benign rs899012 GRCh38 Chromosome 11, 10455215: 10455215
7 AMPD3 NM_001025389.1(AMPD3): c.-82T> G single nucleotide variant Likely benign rs58115104 GRCh37 Chromosome 11, 10476919: 10476919
8 AMPD3 NM_001025389.1(AMPD3): c.-82T> G single nucleotide variant Likely benign rs58115104 GRCh38 Chromosome 11, 10455372: 10455372
9 AMPD3 NM_001025389.1(AMPD3): c.-5-6T> G single nucleotide variant Uncertain significance rs540683532 GRCh37 Chromosome 11, 10483056: 10483056
10 AMPD3 NM_001025389.1(AMPD3): c.-5-6T> G single nucleotide variant Uncertain significance rs540683532 GRCh38 Chromosome 11, 10461509: 10461509
11 AMPD3 NM_001025389.1(AMPD3): c.408C> T (p.Ser136=) single nucleotide variant Uncertain significance rs542609298 GRCh37 Chromosome 11, 10500259: 10500259
12 AMPD3 NM_001025389.1(AMPD3): c.408C> T (p.Ser136=) single nucleotide variant Uncertain significance rs542609298 GRCh38 Chromosome 11, 10478712: 10478712
13 AMPD3 NM_001025389.1(AMPD3): c.426+8G> A single nucleotide variant Uncertain significance rs150321693 GRCh37 Chromosome 11, 10500285: 10500285
14 AMPD3 NM_001025389.1(AMPD3): c.426+8G> A single nucleotide variant Uncertain significance rs150321693 GRCh38 Chromosome 11, 10478738: 10478738
15 AMPD3 NM_001025389.1(AMPD3): c.485G> A (p.Arg162Gln) single nucleotide variant Uncertain significance rs886047586 GRCh37 Chromosome 11, 10503668: 10503668
16 AMPD3 NM_001025389.1(AMPD3): c.485G> A (p.Arg162Gln) single nucleotide variant Uncertain significance rs886047586 GRCh38 Chromosome 11, 10482121: 10482121
17 AMPD3 NM_001025389.1(AMPD3): c.500G> T (p.Arg167Leu) single nucleotide variant Uncertain significance rs764108261 GRCh37 Chromosome 11, 10503683: 10503683
18 AMPD3 NM_001025389.1(AMPD3): c.500G> T (p.Arg167Leu) single nucleotide variant Uncertain significance rs764108261 GRCh38 Chromosome 11, 10482136: 10482136
19 AMPD3 NM_001025389.1(AMPD3): c.600T> G (p.Pro200=) single nucleotide variant Uncertain significance rs200373616 GRCh37 Chromosome 11, 10506377: 10506377
20 AMPD3 NM_001025389.1(AMPD3): c.600T> G (p.Pro200=) single nucleotide variant Uncertain significance rs200373616 GRCh38 Chromosome 11, 10484830: 10484830
21 AMPD3 NM_001025389.1(AMPD3): c.1087C> T (p.His363Tyr) single nucleotide variant Uncertain significance rs886047587 GRCh37 Chromosome 11, 10515043: 10515043
22 AMPD3 NM_001025389.1(AMPD3): c.1087C> T (p.His363Tyr) single nucleotide variant Uncertain significance rs886047587 GRCh38 Chromosome 11, 10493496: 10493496
23 AMPD3 NM_001025389.1(AMPD3): c.1267-3C> T single nucleotide variant Uncertain significance rs369778695 GRCh38 Chromosome 11, 10495567: 10495567
24 AMPD3 NM_001025389.1(AMPD3): c.1267-3C> T single nucleotide variant Uncertain significance rs369778695 GRCh37 Chromosome 11, 10517114: 10517114
25 AMPD3 NM_001025389.1(AMPD3): c.1388A> T (p.Tyr463Phe) single nucleotide variant Uncertain significance rs766302802 GRCh38 Chromosome 11, 10495691: 10495691
26 AMPD3 NM_001025389.1(AMPD3): c.1388A> T (p.Tyr463Phe) single nucleotide variant Uncertain significance rs766302802 GRCh37 Chromosome 11, 10517238: 10517238
27 AMPD3 NM_001025389.1(AMPD3): c.*1536T> C single nucleotide variant Uncertain significance rs866636048 GRCh37 Chromosome 11, 10528967: 10528967
28 AMPD3 NM_001025389.1(AMPD3): c.*1536T> C single nucleotide variant Uncertain significance rs866636048 GRCh38 Chromosome 11, 10507420: 10507420
29 AMPD3 NM_001025389.1(AMPD3): c.*1585G> A single nucleotide variant Benign rs1545743 GRCh37 Chromosome 11, 10529016: 10529016
30 AMPD3 NM_001025389.1(AMPD3): c.*1585G> A single nucleotide variant Benign rs1545743 GRCh38 Chromosome 11, 10507469: 10507469
31 AMPD3 NM_001025389.1(AMPD3): c.*1676_*1679delTAAA deletion Uncertain significance rs886047593 GRCh37 Chromosome 11, 10529107: 10529110
32 AMPD3 NM_001025389.1(AMPD3): c.*1676_*1679delTAAA deletion Uncertain significance rs886047593 GRCh38 Chromosome 11, 10507560: 10507563
33 AMPD3 NM_001025389.1(AMPD3): c.-303C> T single nucleotide variant Likely benign rs2071019 GRCh37 Chromosome 11, 10476698: 10476698
34 AMPD3 NM_001025389.1(AMPD3): c.-303C> T single nucleotide variant Likely benign rs2071019 GRCh38 Chromosome 11, 10455151: 10455151
35 AMPD3 NM_001025389.1(AMPD3): c.-240A> G single nucleotide variant Uncertain significance rs886047584 GRCh37 Chromosome 11, 10476761: 10476761
36 AMPD3 NM_001025389.1(AMPD3): c.-240A> G single nucleotide variant Uncertain significance rs886047584 GRCh38 Chromosome 11, 10455214: 10455214
37 AMPD3 NM_001025389.1(AMPD3): c.669C> T (p.His223=) single nucleotide variant Uncertain significance rs34319136 GRCh37 Chromosome 11, 10506446: 10506446
38 AMPD3 NM_001025389.1(AMPD3): c.283G> A (p.Asp95Asn) single nucleotide variant Uncertain significance rs149433198 GRCh37 Chromosome 11, 10500134: 10500134
39 AMPD3 NM_001025389.1(AMPD3): c.283G> A (p.Asp95Asn) single nucleotide variant Uncertain significance rs149433198 GRCh38 Chromosome 11, 10478587: 10478587
40 AMPD3 NM_001025389.1(AMPD3): c.553C> T (p.Arg185Trp) single nucleotide variant Likely benign rs11042836 GRCh37 Chromosome 11, 10503736: 10503736
41 AMPD3 NM_001025389.1(AMPD3): c.553C> T (p.Arg185Trp) single nucleotide variant Likely benign rs11042836 GRCh38 Chromosome 11, 10482189: 10482189
42 AMPD3 NM_001025389.1(AMPD3): c.669C> T (p.His223=) single nucleotide variant Uncertain significance rs34319136 GRCh38 Chromosome 11, 10484899: 10484899
43 AMPD3 NM_001025389.1(AMPD3): c.981G> T (p.Lys327Asn) single nucleotide variant Uncertain significance rs555477655 GRCh37 Chromosome 11, 10514937: 10514937
44 AMPD3 NM_001025389.1(AMPD3): c.981G> T (p.Lys327Asn) single nucleotide variant Uncertain significance rs555477655 GRCh38 Chromosome 11, 10493390: 10493390
45 AMPD3 NM_001025389.1(AMPD3): c.1258A> G (p.Met420Val) single nucleotide variant Uncertain significance rs184691110 GRCh38 Chromosome 11, 10495022: 10495022
46 AMPD3 NM_001025389.1(AMPD3): c.1258A> G (p.Met420Val) single nucleotide variant Uncertain significance rs184691110 GRCh37 Chromosome 11, 10516569: 10516569
47 AMPD3 NM_001025389.1(AMPD3): c.1516A> G (p.Asn506Asp) single nucleotide variant Uncertain significance rs886047588 GRCh38 Chromosome 11, 10496897: 10496897
48 AMPD3 NM_001025389.1(AMPD3): c.1516A> G (p.Asn506Asp) single nucleotide variant Uncertain significance rs886047588 GRCh37 Chromosome 11, 10518444: 10518444
49 AMPD3 NM_001025389.1(AMPD3): c.*694A> G single nucleotide variant Benign rs2169594 GRCh37 Chromosome 11, 10528125: 10528125
50 AMPD3 NM_001025389.1(AMPD3): c.*694A> G single nucleotide variant Benign rs2169594 GRCh38 Chromosome 11, 10506578: 10506578

Expression for Erythrocyte Amp Deaminase Deficiency

Search GEO for disease gene expression data for Erythrocyte Amp Deaminase Deficiency.

Pathways for Erythrocyte Amp Deaminase Deficiency

GO Terms for Erythrocyte Amp Deaminase Deficiency

Cellular components related to Erythrocyte Amp Deaminase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 8.62 AMPD3 MTRNR2L8

Sources for Erythrocyte Amp Deaminase Deficiency

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
Content
Loading form....