AMPDDE
MCID: ERY039
MIFTS: 21

Erythrocyte Amp Deaminase Deficiency (AMPDDE)

Categories: Genetic diseases

Aliases & Classifications for Erythrocyte Amp Deaminase Deficiency

MalaCards integrated aliases for Erythrocyte Amp Deaminase Deficiency:

Name: Erythrocyte Amp Deaminase Deficiency 57 72 29 6 39 70
Adenosine Monophosphate Deaminase Deficiency Erythrocyte Type 72
Amp Deaminase Deficiency Erythrocyte Type 72
Amp Deaminase Deficiency, Erythrocytic 57
Ampdde 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
erythrocyte amp deaminase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 612874
MeSH 44 D008659
MedGen 41 C2752073
SNOMED-CT via HPO 68 258211005
UMLS 70 C2752073

Summaries for Erythrocyte Amp Deaminase Deficiency

UniProtKB/Swiss-Prot : 72 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, also known as adenosine monophosphate deaminase deficiency erythrocyte type, is related to myopathy due to myoadenylate deaminase deficiency. An important gene associated with Erythrocyte Amp Deaminase Deficiency is AMPD3 (Adenosine Monophosphate Deaminase 3). Affiliated tissues include t cells.

OMIM® : 57 Complete deficiency of erythrocyte AMP deaminase is a clinically benign disorder (Ogasawara et al., 1987; Zydowo et al., 1989). (612874) (Updated 20-May-2021)

Related Diseases for Erythrocyte Amp Deaminase Deficiency

Diseases related to Erythrocyte Amp Deaminase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myopathy due to myoadenylate deaminase deficiency 11.4

Symptoms & Phenotypes for Erythrocyte Amp Deaminase Deficiency

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
erythrocyte amp deaminase deficiency

Clinical features from OMIM®:

612874 (Updated 20-May-2021)

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

MalaCards organs/tissues related to Erythrocyte Amp Deaminase Deficiency:

40
T Cells

Publications for Erythrocyte Amp Deaminase Deficiency

Articles related to Erythrocyte Amp Deaminase Deficiency:

# Title Authors PMID Year
1
A point mutation responsible for human erythrocyte AMP deaminase deficiency. 6 57 61
8004104 1994
2
Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations. 6 61
7881427 1994
3
Deficiency of AMP deaminase in human erythrocytes. 57
2624209 1989
4
Deficiency of AMP deaminase in erythrocytes. 57
3804327 1987
5
Adenosine monophosphate deaminase 3 null mutation causes reduction of naive T cells in mouse peripheral blood. 61
32761233 2020
6
A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3. 61
11139257 2001
7
Erythrocyte amp deaminase deficiency in Japanese: a compound heterozygote responsible for the complete deficiency. 61
11783530 2000
8
Gene mutations responsible for human erythrocyte AMP deaminase deficiency in Poles. 61
9598089 1998
9
Gene mutations for human erythrocyte AMP deaminase deficiency. 61
7661002 1994

Variations for Erythrocyte Amp Deaminase Deficiency

ClinVar genetic disease variations for Erythrocyte Amp Deaminase Deficiency:

6 (show top 50) (show all 111)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AMPD3 NM_000480.3(AMPD3):c.1744C>T (p.Arg582Cys) SNV Pathogenic 18270 rs3741040 GRCh37: 11:10521792-10521792
GRCh38: 11:10500245-10500245
2 AMPD3 NM_000480.3(AMPD3):c.*845A>G SNV Uncertain significance 302182 rs529360394 GRCh37: 11:10528276-10528276
GRCh38: 11:10506729-10506729
3 AMPD3 NM_000480.3(AMPD3):c.1294-3C>T SNV Uncertain significance 302169 rs369778695 GRCh37: 11:10517114-10517114
GRCh38: 11:10495567-10495567
4 AMPD3 NM_000480.3(AMPD3):c.*1297T>C SNV Uncertain significance 302188 rs886047592 GRCh37: 11:10528728-10528728
GRCh38: 11:10507181-10507181
5 AMPD3 NM_000480.3(AMPD3):c.1008G>T (p.Lys336Asn) SNV Uncertain significance 302163 rs555477655 GRCh37: 11:10514937-10514937
GRCh38: 11:10493390-10493390
6 AMPD3 NM_000480.3(AMPD3):c.298C>T (p.Pro100Ser) SNV Uncertain significance 302147 rs201551496 GRCh37: 11:10500122-10500122
GRCh38: 11:10478575-10478575
7 AMPD3 NM_000480.3(AMPD3):c.450C>T (p.Ala150=) SNV Uncertain significance 302153 rs117002871 GRCh37: 11:10500274-10500274
GRCh38: 11:10478727-10478727
8 AMPD3 NM_000480.3(AMPD3):c.1540A>G (p.Ile514Val) SNV Uncertain significance 302172 rs141457480 GRCh37: 11:10518441-10518441
GRCh38: 11:10496894-10496894
9 AMPD3 NM_000480.3(AMPD3):c.512G>A (p.Arg171Gln) SNV Uncertain significance 302156 rs886047586 GRCh37: 11:10503668-10503668
GRCh38: 11:10482121-10482121
10 AMPD3 NM_000480.3(AMPD3):c.380C>T (p.Ser127Phe) SNV Uncertain significance 302150 rs758624728 GRCh37: 11:10500204-10500204
GRCh38: 11:10478657-10478657
11 AMPD3 NM_000480.3(AMPD3):c.*1672_*1675TAAA[1] Microsatellite Uncertain significance 302191 rs752754496 GRCh37: 11:10529103-10529106
GRCh38: 11:10507556-10507559
12 AMPD3 NM_000480.3(AMPD3):c.*431A>G SNV Uncertain significance 302180 rs751822472 GRCh37: 11:10527862-10527862
GRCh38: 11:10506315-10506315
13 AMPD3 NM_000480.3(AMPD3):c.22+4171A>G SNV Uncertain significance 302139 rs886047584 GRCh37: 11:10476761-10476761
GRCh38: 11:10455214-10455214
14 AMPD3 NM_000480.3(AMPD3):c.2316C>T (p.Thr772=) SNV Uncertain significance 302177 rs138270366 GRCh37: 11:10527416-10527416
GRCh38: 11:10505869-10505869
15 AMPD3 NM_000480.3(AMPD3):c.912C>T (p.Ser304=) SNV Uncertain significance 302161 rs149271802 GRCh37: 11:10508857-10508857
GRCh38: 11:10487310-10487310
16 AMPD3 NM_000480.3(AMPD3):c.1285A>G (p.Met429Val) SNV Uncertain significance 302167 rs184691110 GRCh37: 11:10516569-10516569
GRCh38: 11:10495022-10495022
17 AMPD3 NM_000480.3(AMPD3):c.1415A>T (p.Tyr472Phe) SNV Uncertain significance 302170 rs766302802 GRCh37: 11:10517238-10517238
GRCh38: 11:10495691-10495691
18 AMPD3 NM_000480.3(AMPD3):c.*1536T>C SNV Uncertain significance 302189 rs866636048 GRCh37: 11:10528967-10528967
GRCh38: 11:10507420-10507420
19 AMPD3 NM_000480.3(AMPD3):c.22+4363_22+4368del Deletion Uncertain significance 302145 rs547362583 GRCh37: 11:10476951-10476956
GRCh38: 11:10455404-10455409
20 AMPD3 NM_000480.3(AMPD3):c.1107C>T (p.Asp369=) SNV Uncertain significance 302164 rs139511483 GRCh37: 11:10515036-10515036
GRCh38: 11:10493489-10493489
21 AMPD3 NM_000480.3(AMPD3):c.310G>A (p.Asp104Asn) SNV Uncertain significance 302148 rs149433198 GRCh37: 11:10500134-10500134
GRCh38: 11:10478587-10478587
22 AMPD3 NM_000480.3(AMPD3):c.453+8G>A SNV Uncertain significance 302154 rs150321693 GRCh37: 11:10500285-10500285
GRCh38: 11:10478738-10478738
23 AMPD3 NM_000480.3(AMPD3):c.527G>T (p.Arg176Leu) SNV Uncertain significance 302157 rs764108261 GRCh37: 11:10503683-10503683
GRCh38: 11:10482136-10482136
24 AMPD3 NM_000480.3(AMPD3):c.1543A>G (p.Asn515Asp) SNV Uncertain significance 302173 rs886047588 GRCh37: 11:10518444-10518444
GRCh38: 11:10496897-10496897
25 AMPD3 NM_000480.3(AMPD3):c.*121del Deletion Uncertain significance 302178 rs886047589 GRCh37: 11:10527549-10527549
GRCh38: 11:10506002-10506002
26 AMPD3 NM_000480.3(AMPD3):c.*1681T>C SNV Uncertain significance 302192 rs551737295 GRCh37: 11:10529112-10529112
GRCh38: 11:10507565-10507565
27 AMPD3 NM_000480.3(AMPD3):c.1114C>T (p.His372Tyr) SNV Uncertain significance 302165 rs886047587 GRCh37: 11:10515043-10515043
GRCh38: 11:10493496-10493496
28 AMPD3 NM_000480.3(AMPD3):c.23-6T>G SNV Uncertain significance 302146 rs540683532 GRCh37: 11:10483056-10483056
GRCh38: 11:10461509-10461509
29 AMPD3 NM_000480.3(AMPD3):c.627T>G (p.Pro209=) SNV Uncertain significance 302159 rs200373616 GRCh37: 11:10506377-10506377
GRCh38: 11:10484830-10484830
30 AMPD3 NM_000480.3(AMPD3):c.1294-13C>A SNV Uncertain significance 302168 rs376493129 GRCh37: 11:10517104-10517104
GRCh38: 11:10495557-10495557
31 AMPD3 NM_000480.3(AMPD3):c.*1181dup Duplication Uncertain significance 302187 rs765400983 GRCh37: 11:10528609-10528610
GRCh38: 11:10507062-10507063
32 AMPD3 NM_000480.3(AMPD3):c.1479G>A (p.Lys493=) SNV Uncertain significance 302171 rs371018918 GRCh37: 11:10518380-10518380
GRCh38: 11:10496833-10496833
33 AMPD3 NM_000480.3(AMPD3):c.*287T>C SNV Uncertain significance 302179 rs76318574 GRCh37: 11:10527718-10527718
GRCh38: 11:10506171-10506171
34 AMPD3 NM_000480.3(AMPD3):c.1755C>T (p.Arg585=) SNV Uncertain significance 302176 rs150947905 GRCh37: 11:10523023-10523023
GRCh38: 11:10501476-10501476
35 AMPD3 NM_000480.3(AMPD3):c.1117A>G (p.Met373Val) SNV Uncertain significance 877463 GRCh37: 11:10515046-10515046
GRCh38: 11:10493499-10493499
36 AMPD3 NM_000480.3(AMPD3):c.1162-6C>G SNV Uncertain significance 877464 GRCh37: 11:10516440-10516440
GRCh38: 11:10494893-10494893
37 AMPD3 NM_000480.3(AMPD3):c.1162-5C>A SNV Uncertain significance 198759 rs202231572 GRCh37: 11:10516441-10516441
GRCh38: 11:10494894-10494894
38 AMPD3 NM_000480.3(AMPD3):c.1162-5C>T SNV Uncertain significance 877465 GRCh37: 11:10516441-10516441
GRCh38: 11:10494894-10494894
39 AMPD3 NM_000480.3(AMPD3):c.22+4148T>C SNV Uncertain significance 878369 GRCh37: 11:10476738-10476738
GRCh38: 11:10455191-10455191
40 AMPD3 NM_000480.3(AMPD3):c.486G>A (p.Lys162=) SNV Uncertain significance 878422 GRCh37: 11:10503642-10503642
GRCh38: 11:10482095-10482095
41 AMPD3 NM_000480.3(AMPD3):c.525G>A (p.Ala175=) SNV Uncertain significance 878423 GRCh37: 11:10503681-10503681
GRCh38: 11:10482134-10482134
42 AMPD3 NM_000480.3(AMPD3):c.1303C>T (p.Arg435Trp) SNV Uncertain significance 878483 GRCh37: 11:10517126-10517126
GRCh38: 11:10495579-10495579
43 AMPD3 NM_000480.3(AMPD3):c.1331A>G (p.Tyr444Cys) SNV Uncertain significance 878484 GRCh37: 11:10517154-10517154
GRCh38: 11:10495607-10495607
44 AMPD3 NM_000480.3(AMPD3):c.1344G>T (p.Arg448=) SNV Uncertain significance 878485 GRCh37: 11:10517167-10517167
GRCh38: 11:10495620-10495620
45 AMPD3 NM_000480.3(AMPD3):c.1627G>A (p.Asp543Asn) SNV Uncertain significance 302174 rs750200570 GRCh37: 11:10521675-10521675
GRCh38: 11:10500128-10500128
46 AMPD3 NM_000480.3(AMPD3):c.352A>G (p.Thr118Ala) SNV Uncertain significance 302149 rs774974291 GRCh37: 11:10500176-10500176
GRCh38: 11:10478629-10478629
47 AMPD3 NM_000480.3(AMPD3):c.487A>G (p.Ser163Gly) SNV Uncertain significance 302155 rs756660564 GRCh37: 11:10503643-10503643
GRCh38: 11:10482096-10482096
48 AMPD3 NM_000480.3(AMPD3):c.1472C>T (p.Ser491Leu) SNV Uncertain significance 193613 rs144107914 GRCh37: 11:10518373-10518373
GRCh38: 11:10496826-10496826
49 AMPD3 NM_000480.3(AMPD3):c.1523C>T (p.Pro508Leu) SNV Uncertain significance 878486 GRCh37: 11:10518424-10518424
GRCh38: 11:10496877-10496877
50 AMPD3 NM_000480.3(AMPD3):c.22+4295A>C SNV Uncertain significance 878960 GRCh37: 11:10476885-10476885
GRCh38: 11:10455338-10455338

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

72
# 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 rs127315184
9 AMPD3 p.Pro585Leu VAR_042614 rs748852415
10 AMPD3 p.Gln712Pro VAR_042615

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

Sources for Erythrocyte Amp Deaminase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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