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 56 73 29 6 39 71
Adenosine Monophosphate Deaminase Deficiency Erythrocyte Type 73
Amp Deaminase Deficiency Erythrocyte Type 73
Amp Deaminase Deficiency, Erythrocytic 56
Ampdde 73

Characteristics:

OMIM:

56
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 56 612874
MeSH 43 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).

OMIM : 56 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

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 11.9

Symptoms & Phenotypes for Erythrocyte Amp Deaminase Deficiency

Symptoms via clinical synopsis from OMIM:

56
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 PMID Year
1
A point mutation responsible for human erythrocyte AMP deaminase deficiency. 6 56 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. 56
2624209 1989
4
Deficiency of AMP deaminase in erythrocytes. 56
3804327 1987
5
A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3. 61
11139257 2001
6
Erythrocyte amp deaminase deficiency in Japanese: a compound heterozygote responsible for the complete deficiency. 61
11783530 2000
7
Gene mutations responsible for human erythrocyte AMP deaminase deficiency in Poles. 61
9598089 1998
8
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.958G>T (p.Val320Leu)SNV Conflicting interpretations of pathogenicity 166685 rs117706710 11:10508903-10508903 11:10487356-10487356
3 AMPD3 NM_000480.3(AMPD3):c.453+8G>ASNV Conflicting interpretations of pathogenicity 302154 rs150321693 11:10500285-10500285 11:10478738-10478738
4 AMPD3 NM_000480.3(AMPD3):c.512G>A (p.Arg171Gln)SNV Uncertain significance 302156 rs886047586 11:10503668-10503668 11:10482121-10482121
5 AMPD3 NM_000480.3(AMPD3):c.527G>T (p.Arg176Leu)SNV Uncertain significance 302157 rs764108261 11:10503683-10503683 11:10482136-10482136
6 AMPD3 NM_000480.3(AMPD3):c.627T>G (p.Pro209=)SNV Uncertain significance 302159 rs200373616 11:10506377-10506377 11:10484830-10484830
7 AMPD3 NM_000480.3(AMPD3):c.1114C>T (p.His372Tyr)SNV Uncertain significance 302165 rs886047587 11:10515043-10515043 11:10493496-10493496
8 AMPD3 NM_000480.3(AMPD3):c.1294-3C>TSNV Uncertain significance 302169 rs369778695 11:10517114-10517114 11:10495567-10495567
9 AMPD3 NM_000480.3(AMPD3):c.1415A>T (p.Tyr472Phe)SNV Uncertain significance 302170 rs766302802 11:10517238-10517238 11:10495691-10495691
10 AMPD3 NM_000480.3(AMPD3):c.*1536T>CSNV Uncertain significance 302189 rs866636048 11:10528967-10528967 11:10507420-10507420
11 AMPD3 NM_000480.3(AMPD3):c.1472C>T (p.Ser491Leu)SNV Uncertain significance 193613 rs144107914 11:10518373-10518373 11:10496826-10496826
12 AMPD3 NM_000480.3(AMPD3):c.1851C>T (p.His617=)SNV Uncertain significance 194013 rs201980416 11:10523119-10523119 11:10501572-10501572
13 AMPD3 NM_000480.3(AMPD3):c.1043C>T (p.Thr348Met)SNV Uncertain significance 198445 rs201115705 11:10514972-10514972 11:10493425-10493425
14 AMPD3 NM_000480.3(AMPD3):c.1162-5C>ASNV Uncertain significance 198759 rs202231572 11:10516441-10516441 11:10494894-10494894
15 AMPD3 NM_000480.3(AMPD3):c.23-6T>GSNV Uncertain significance 302146 rs540683532 11:10483056-10483056 11:10461509-10461509
16 AMPD3 NM_000480.3(AMPD3):c.435C>T (p.Ser145=)SNV Uncertain significance 302152 rs542609298 11:10500259-10500259 11:10478712-10478712
17 AMPD3 NM_000480.3(AMPD3):c.*1672_*1675TAAA[1]short repeat Uncertain significance 302191 rs752754496 11:10529103-10529106 11:10507556-10507559
18 AMPD3 NM_000480.3(AMPD3):c.22+4171A>GSNV Uncertain significance 302139 rs886047584 11:10476761-10476761 11:10455214-10455214
19 AMPD3 NM_000480.3(AMPD3):c.310G>A (p.Asp104Asn)SNV Uncertain significance 302148 rs149433198 11:10500134-10500134 11:10478587-10478587
20 AMPD3 NM_000480.3(AMPD3):c.1008G>T (p.Lys336Asn)SNV Uncertain significance 302163 rs555477655 11:10514937-10514937 11:10493390-10493390
21 AMPD3 NM_000480.3(AMPD3):c.1285A>G (p.Met429Val)SNV Uncertain significance 302167 rs184691110 11:10516569-10516569 11:10495022-10495022
22 AMPD3 NM_000480.3(AMPD3):c.1543A>G (p.Asn515Asp)SNV Uncertain significance 302173 rs886047588 11:10518444-10518444 11:10496897-10496897
23 AMPD3 NM_000480.3(AMPD3):c.*327G>CSNV Uncertain significance 877510 11:10527758-10527758 11:10506211-10506211
24 AMPD3 NM_000480.3(AMPD3):c.22+4148T>CSNV Uncertain significance 878369 11:10476738-10476738 11:10455191-10455191
25 AMPD3 NM_000480.3(AMPD3):c.22+4295A>CSNV Uncertain significance 878960 11:10476885-10476885 11:10455338-10455338
26 AMPD3 NM_000480.3(AMPD3):c.22+4386C>TSNV Uncertain significance 880182 11:10476976-10476976 11:10455429-10455429
27 AMPD3 NM_000480.3(AMPD3):c.22+4402G>ASNV Uncertain significance 880183 11:10476992-10476992 11:10455445-10455445
28 AMPD3 NM_000480.3(AMPD3):c.34C>T (p.Arg12Trp)SNV Uncertain significance 880184 11:10483073-10483073 11:10461526-10461526
29 AMPD3 NM_000480.3(AMPD3):c.83T>C (p.Leu28Pro)SNV Uncertain significance 880185 11:10483122-10483122 11:10461575-10461575
30 AMPD3 NM_000480.3(AMPD3):c.108A>C (p.Lys36Asn)SNV Uncertain significance 880186 11:10483147-10483147 11:10461600-10461600
31 AMPD3 NM_000480.3(AMPD3):c.137C>T (p.Ala46Val)SNV Uncertain significance 880187 11:10483176-10483176 11:10461629-10461629
32 AMPD3 NM_000480.3(AMPD3):c.486G>A (p.Lys162=)SNV Uncertain significance 878422 11:10503642-10503642 11:10482095-10482095
33 AMPD3 NM_000480.3(AMPD3):c.525G>A (p.Ala175=)SNV Uncertain significance 878423 11:10503681-10503681 11:10482134-10482134
34 AMPD3 NM_000480.3(AMPD3):c.729C>T (p.Asn243=)SNV Uncertain significance 879015 11:10506479-10506479 11:10484932-10484932
35 AMPD3 NM_000480.3(AMPD3):c.863A>G (p.Asn288Ser)SNV Uncertain significance 879016 11:10508808-10508808 11:10487261-10487261
36 AMPD3 NM_000480.3(AMPD3):c.958G>A (p.Val320Met)SNV Uncertain significance 879017 11:10508903-10508903 11:10487356-10487356
37 AMPD3 NM_000480.3(AMPD3):c.1001A>G (p.Asn334Ser)SNV Uncertain significance 880230 11:10514930-10514930 11:10493383-10493383
38 AMPD3 NM_000480.3(AMPD3):c.1018C>T (p.Arg340Cys)SNV Uncertain significance 880231 11:10514947-10514947 11:10493400-10493400
39 AMPD3 NM_000480.3(AMPD3):c.1093C>T (p.Arg365Trp)SNV Uncertain significance 880232 11:10515022-10515022 11:10493475-10493475
40 AMPD3 NM_000480.3(AMPD3):c.1117A>G (p.Met373Val)SNV Uncertain significance 877463 11:10515046-10515046 11:10493499-10493499
41 AMPD3 NM_000480.3(AMPD3):c.1303C>T (p.Arg435Trp)SNV Uncertain significance 878483 11:10517126-10517126 11:10495579-10495579
42 AMPD3 NM_000480.3(AMPD3):c.1331A>G (p.Tyr444Cys)SNV Uncertain significance 878484 11:10517154-10517154 11:10495607-10495607
43 AMPD3 NM_000480.3(AMPD3):c.1344G>T (p.Arg448=)SNV Uncertain significance 878485 11:10517167-10517167 11:10495620-10495620
44 AMPD3 NM_000480.3(AMPD3):c.1523C>T (p.Pro508Leu)SNV Uncertain significance 878486 11:10518424-10518424 11:10496877-10496877
45 AMPD3 NM_000480.3(AMPD3):c.1576C>G (p.Leu526Val)SNV Uncertain significance 879066 11:10518477-10518477 11:10496930-10496930
46 AMPD3 NM_000480.3(AMPD3):c.1596T>G (p.Phe532Leu)SNV Uncertain significance 879067 11:10521644-10521644 11:10500097-10500097
47 AMPD3 NM_000480.3(AMPD3):c.1641C>T (p.Ser547=)SNV Uncertain significance 879068 11:10521689-10521689 11:10500142-10500142
48 AMPD3 NM_000480.3(AMPD3):c.1736A>G (p.Asn579Ser)SNV Uncertain significance 880290 11:10521784-10521784 11:10500237-10500237
49 AMPD3 NM_000480.3(AMPD3):c.1756G>A (p.Gly586Ser)SNV Uncertain significance 880291 11:10523024-10523024 11:10501477-10501477
50 AMPD3 NM_000480.3(AMPD3):c.1766C>T (p.Thr589Met)SNV Uncertain significance 880292 11:10523034-10523034 11:10501487-10501487

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....