AMPDDE
MCID: ERY039
MIFTS: 22

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 73 29 6 39 71
Adenosine Monophosphate Deaminase Deficiency Erythrocyte Type 73
Amp Deaminase Deficiency Erythrocyte Type 73
Amp Deaminase Deficiency, Erythrocytic 57
Ampdde 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-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 71 C2752073

Summaries for Erythrocyte Amp Deaminase Deficiency

UniProtKB/Swiss-Prot : 73 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 05-Mar-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 05-Mar-2021)
Hematology:
erythrocyte amp deaminase deficiency

Clinical features from OMIM®:

612874 (Updated 05-Mar-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. 57 6 61
8004104 1994
2
Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations. 61 6
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 GRCh37 Pos GRCh38 Pos
1 AMPD3 NM_000480.3(AMPD3):c.1744C>T (p.Arg582Cys) SNV Pathogenic 18270 rs3741040 11:10521792-10521792 11:10500245-10500245
2 AMPD3 NM_000480.3(AMPD3):c.*845A>G SNV Uncertain significance 302182 rs529360394 11:10528276-10528276 11:10506729-10506729
3 AMPD3 NM_000480.3(AMPD3):c.*1297T>C SNV Uncertain significance 302188 rs886047592 11:10528728-10528728 11:10507181-10507181
4 AMPD3 NM_000480.3(AMPD3):c.1008G>T (p.Lys336Asn) SNV Uncertain significance 302163 rs555477655 11:10514937-10514937 11:10493390-10493390
5 AMPD3 NM_000480.3(AMPD3):c.298C>T (p.Pro100Ser) SNV Uncertain significance 302147 rs201551496 11:10500122-10500122 11:10478575-10478575
6 AMPD3 NM_000480.3(AMPD3):c.450C>T (p.Ala150=) SNV Uncertain significance 302153 rs117002871 11:10500274-10500274 11:10478727-10478727
7 AMPD3 NM_000480.3(AMPD3):c.1540A>G (p.Ile514Val) SNV Uncertain significance 302172 rs141457480 11:10518441-10518441 11:10496894-10496894
8 AMPD3 NM_000480.3(AMPD3):c.512G>A (p.Arg171Gln) SNV Uncertain significance 302156 rs886047586 11:10503668-10503668 11:10482121-10482121
9 AMPD3 NM_000480.3(AMPD3):c.1294-3C>T SNV Uncertain significance 302169 rs369778695 11:10517114-10517114 11:10495567-10495567
10 AMPD3 NM_000480.3(AMPD3):c.380C>T (p.Ser127Phe) SNV Uncertain significance 302150 rs758624728 11:10500204-10500204 11:10478657-10478657
11 AMPD3 NM_000480.3(AMPD3):c.*1672_*1675TAAA[1] Microsatellite Uncertain significance 302191 rs752754496 11:10529103-10529106 11:10507556-10507559
12 AMPD3 NM_000480.3(AMPD3):c.22+4171A>G SNV Uncertain significance 302139 rs886047584 11:10476761-10476761 11:10455214-10455214
13 AMPD3 NM_000480.3(AMPD3):c.2316C>T (p.Thr772=) SNV Uncertain significance 302177 rs138270366 11:10527416-10527416 11:10505869-10505869
14 AMPD3 NM_000480.3(AMPD3):c.912C>T (p.Ser304=) SNV Uncertain significance 302161 rs149271802 11:10508857-10508857 11:10487310-10487310
15 AMPD3 NM_000480.3(AMPD3):c.1285A>G (p.Met429Val) SNV Uncertain significance 302167 rs184691110 11:10516569-10516569 11:10495022-10495022
16 AMPD3 NM_000480.3(AMPD3):c.389C>T (p.Thr130Met) SNV Uncertain significance 302151 rs780348844 11:10500213-10500213 11:10478666-10478666
17 AMPD3 NM_000480.3(AMPD3):c.1415A>T (p.Tyr472Phe) SNV Uncertain significance 302170 rs766302802 11:10517238-10517238 11:10495691-10495691
18 AMPD3 NM_000480.3(AMPD3):c.*1536T>C SNV Uncertain significance 302189 rs866636048 11:10528967-10528967 11:10507420-10507420
19 AMPD3 NM_000480.3(AMPD3):c.22+4363_22+4368del Deletion Uncertain significance 302145 rs547362583 11:10476951-10476956 11:10455404-10455409
20 AMPD3 NM_000480.3(AMPD3):c.1107C>T (p.Asp369=) SNV Uncertain significance 302164 rs139511483 11:10515036-10515036 11:10493489-10493489
21 AMPD3 NM_000480.3(AMPD3):c.310G>A (p.Asp104Asn) SNV Uncertain significance 302148 rs149433198 11:10500134-10500134 11:10478587-10478587
22 AMPD3 NM_000480.3(AMPD3):c.453+8G>A SNV Uncertain significance 302154 rs150321693 11:10500285-10500285 11:10478738-10478738
23 AMPD3 NM_000480.3(AMPD3):c.527G>T (p.Arg176Leu) SNV Uncertain significance 302157 rs764108261 11:10503683-10503683 11:10482136-10482136
24 AMPD3 NM_000480.3(AMPD3):c.1543A>G (p.Asn515Asp) SNV Uncertain significance 302173 rs886047588 11:10518444-10518444 11:10496897-10496897
25 AMPD3 NM_000480.3(AMPD3):c.*121del Deletion Uncertain significance 302178 rs886047589 11:10527549-10527549 11:10506002-10506002
26 AMPD3 NM_000480.3(AMPD3):c.*1681T>C SNV Uncertain significance 302192 rs551737295 11:10529112-10529112 11:10507565-10507565
27 AMPD3 NM_000480.3(AMPD3):c.*431A>G SNV Uncertain significance 302180 rs751822472 11:10527862-10527862 11:10506315-10506315
28 AMPD3 NM_000480.3(AMPD3):c.1114C>T (p.His372Tyr) SNV Uncertain significance 302165 rs886047587 11:10515043-10515043 11:10493496-10493496
29 AMPD3 NM_000480.3(AMPD3):c.1294-13C>A SNV Uncertain significance 302168 rs376493129 11:10517104-10517104 11:10495557-10495557
30 AMPD3 NM_000480.3(AMPD3):c.435C>T (p.Ser145=) SNV Uncertain significance 302152 rs542609298 11:10500259-10500259 11:10478712-10478712
31 AMPD3 NM_000480.3(AMPD3):c.*1181dup Duplication Uncertain significance 302187 rs765400983 11:10528609-10528610 11:10507062-10507063
32 AMPD3 NM_000480.3(AMPD3):c.1479G>A (p.Lys493=) SNV Uncertain significance 302171 rs371018918 11:10518380-10518380 11:10496833-10496833
33 AMPD3 NM_000480.3(AMPD3):c.*287T>C SNV Uncertain significance 302179 rs76318574 11:10527718-10527718 11:10506171-10506171
34 AMPD3 NM_000480.3(AMPD3):c.1755C>T (p.Arg585=) SNV Uncertain significance 302176 rs150947905 11:10523023-10523023 11:10501476-10501476
35 AMPD3 NM_000480.3(AMPD3):c.454-13C>T SNV Uncertain significance 877403 11:10503597-10503597 11:10482050-10482050
36 AMPD3 NM_000480.3(AMPD3):c.1117A>G (p.Met373Val) SNV Uncertain significance 877463 11:10515046-10515046 11:10493499-10493499
37 AMPD3 NM_000480.3(AMPD3):c.1162-6C>G SNV Uncertain significance 877464 11:10516440-10516440 11:10494893-10494893
38 AMPD3 NM_000480.3(AMPD3):c.1162-5C>A SNV Uncertain significance 198759 rs202231572 11:10516441-10516441 11:10494894-10494894
39 AMPD3 NM_000480.3(AMPD3):c.1162-5C>T SNV Uncertain significance 877465 11:10516441-10516441 11:10494894-10494894
40 AMPD3 NM_000480.3(AMPD3):c.2128G>T (p.Val710Leu) SNV Uncertain significance 877506 11:10526180-10526180 11:10504633-10504633
41 AMPD3 NM_000480.3(AMPD3):c.2145C>T (p.Leu715=) SNV Uncertain significance 877507 11:10526197-10526197 11:10504650-10504650
42 AMPD3 NM_000480.3(AMPD3):c.2294C>G (p.Ala765Gly) SNV Uncertain significance 877508 11:10527394-10527394 11:10505847-10505847
43 AMPD3 NM_000480.3(AMPD3):c.*75C>T SNV Uncertain significance 877509 11:10527506-10527506 11:10505959-10505959
44 AMPD3 NM_000480.3(AMPD3):c.*327G>C SNV Uncertain significance 877510 11:10527758-10527758 11:10506211-10506211
45 AMPD3 NM_000480.3(AMPD3):c.22+4148T>C SNV Uncertain significance 878369 11:10476738-10476738 11:10455191-10455191
46 AMPD3 NM_000480.3(AMPD3):c.486G>A (p.Lys162=) SNV Uncertain significance 878422 11:10503642-10503642 11:10482095-10482095
47 AMPD3 NM_000480.3(AMPD3):c.525G>A (p.Ala175=) SNV Uncertain significance 878423 11:10503681-10503681 11:10482134-10482134
48 AMPD3 NM_000480.3(AMPD3):c.1303C>T (p.Arg435Trp) SNV Uncertain significance 878483 11:10517126-10517126 11:10495579-10495579
49 AMPD3 NM_000480.3(AMPD3):c.1331A>G (p.Tyr444Cys) SNV Uncertain significance 878484 11:10517154-10517154 11:10495607-10495607
50 AMPD3 NM_000480.3(AMPD3):c.1344G>T (p.Arg448=) SNV Uncertain significance 878485 11:10517167-10517167 11:10495620-10495620

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

73
# 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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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