AMPDDE
MCID: ERY039
MIFTS: 19

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 58 76 30 6 41 74
Adenosine Monophosphate Deaminase Deficiency Erythrocyte Type 76
Amp Deaminase Deficiency Erythrocyte Type 76
Amp Deaminase Deficiency, Erythrocytic 58
Ampdde 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
erythrocyte amp deaminase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 612874
MeSH 45 D008659
MedGen 43 C2752073
SNOMED-CT via HPO 70 258211005
UMLS 74 C2752073

Summaries for Erythrocyte Amp Deaminase Deficiency

UniProtKB/Swiss-Prot : 76 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 : 58 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:

58
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 30 AMPD3

Anatomical Context for Erythrocyte Amp Deaminase Deficiency

Publications for Erythrocyte Amp Deaminase Deficiency

Articles related to Erythrocyte Amp Deaminase Deficiency:

(showing 6, show less)
# 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
Gene mutations for human erythrocyte AMP deaminase deficiency. ( 7661002 )
1994
5
Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations. ( 7881427 )
1994
6
A point mutation responsible for human erythrocyte AMP deaminase deficiency. ( 8004104 )
1994

Variations for Erythrocyte Amp Deaminase Deficiency

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

76 (showing 10, show less)
# 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

ClinVar genetic disease variations for Erythrocyte Amp Deaminase Deficiency:

6 (showing 116, show less)
# 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.573G> A (p.Pro191=) single nucleotide variant Benign/Likely benign rs16907852 GRCh37 Chromosome 11, 10503756: 10503756
4 AMPD3 NM_001025389.1(AMPD3): c.573G> A (p.Pro191=) single nucleotide variant Benign/Likely benign rs16907852 GRCh38 Chromosome 11, 10482209: 10482209
5 AMPD3 NM_001025389.1(AMPD3): c.-312A> G single nucleotide variant Likely benign rs899013 GRCh38 Chromosome 11, 10455142: 10455142
6 AMPD3 NM_001025389.1(AMPD3): c.-312A> G single nucleotide variant Likely benign rs899013 GRCh37 Chromosome 11, 10476689: 10476689
7 AMPD3 NM_001025389.1(AMPD3): c.-239G> C single nucleotide variant Benign rs899012 GRCh38 Chromosome 11, 10455215: 10455215
8 AMPD3 NM_001025389.1(AMPD3): c.-239G> C single nucleotide variant Benign rs899012 GRCh37 Chromosome 11, 10476762: 10476762
9 AMPD3 NM_001025389.1(AMPD3): c.-82T> G single nucleotide variant Likely benign rs58115104 GRCh37 Chromosome 11, 10476919: 10476919
10 AMPD3 NM_001025389.1(AMPD3): c.-82T> G single nucleotide variant Likely benign rs58115104 GRCh38 Chromosome 11, 10455372: 10455372
11 AMPD3 NM_001025389.1(AMPD3): c.-5-6T> G single nucleotide variant Uncertain significance rs540683532 GRCh37 Chromosome 11, 10483056: 10483056
12 AMPD3 NM_001025389.1(AMPD3): c.-5-6T> G single nucleotide variant Uncertain significance rs540683532 GRCh38 Chromosome 11, 10461509: 10461509
13 AMPD3 NM_001025389.1(AMPD3): c.408C> T (p.Ser136=) single nucleotide variant Uncertain significance rs542609298 GRCh37 Chromosome 11, 10500259: 10500259
14 AMPD3 NM_001025389.1(AMPD3): c.408C> T (p.Ser136=) single nucleotide variant Uncertain significance rs542609298 GRCh38 Chromosome 11, 10478712: 10478712
15 AMPD3 NM_001025389.1(AMPD3): c.426+8G> A single nucleotide variant Uncertain significance rs150321693 GRCh37 Chromosome 11, 10500285: 10500285
16 AMPD3 NM_001025389.1(AMPD3): c.426+8G> A single nucleotide variant Uncertain significance rs150321693 GRCh38 Chromosome 11, 10478738: 10478738
17 AMPD3 NM_001025389.1(AMPD3): c.485G> A (p.Arg162Gln) single nucleotide variant Uncertain significance rs886047586 GRCh37 Chromosome 11, 10503668: 10503668
18 AMPD3 NM_001025389.1(AMPD3): c.485G> A (p.Arg162Gln) single nucleotide variant Uncertain significance rs886047586 GRCh38 Chromosome 11, 10482121: 10482121
19 AMPD3 NM_001025389.1(AMPD3): c.500G> T (p.Arg167Leu) single nucleotide variant Uncertain significance rs764108261 GRCh37 Chromosome 11, 10503683: 10503683
20 AMPD3 NM_001025389.1(AMPD3): c.500G> T (p.Arg167Leu) single nucleotide variant Uncertain significance rs764108261 GRCh38 Chromosome 11, 10482136: 10482136
21 AMPD3 NM_001025389.1(AMPD3): c.600T> G (p.Pro200=) single nucleotide variant Uncertain significance rs200373616 GRCh37 Chromosome 11, 10506377: 10506377
22 AMPD3 NM_001025389.1(AMPD3): c.600T> G (p.Pro200=) single nucleotide variant Uncertain significance rs200373616 GRCh38 Chromosome 11, 10484830: 10484830
23 AMPD3 NM_001025389.1(AMPD3): c.1087C> T (p.His363Tyr) single nucleotide variant Uncertain significance rs886047587 GRCh37 Chromosome 11, 10515043: 10515043
24 AMPD3 NM_001025389.1(AMPD3): c.1087C> T (p.His363Tyr) single nucleotide variant Uncertain significance rs886047587 GRCh38 Chromosome 11, 10493496: 10493496
25 AMPD3 NM_001025389.1(AMPD3): c.1267-3C> T single nucleotide variant Uncertain significance rs369778695 GRCh38 Chromosome 11, 10495567: 10495567
26 AMPD3 NM_001025389.1(AMPD3): c.1267-3C> T single nucleotide variant Uncertain significance rs369778695 GRCh37 Chromosome 11, 10517114: 10517114
27 AMPD3 NM_001025389.1(AMPD3): c.1388A> T (p.Tyr463Phe) single nucleotide variant Uncertain significance rs766302802 GRCh38 Chromosome 11, 10495691: 10495691
28 AMPD3 NM_001025389.1(AMPD3): c.1388A> T (p.Tyr463Phe) single nucleotide variant Uncertain significance rs766302802 GRCh37 Chromosome 11, 10517238: 10517238
29 AMPD3 NM_001025389.1(AMPD3): c.*1536T> C single nucleotide variant Uncertain significance rs866636048 GRCh37 Chromosome 11, 10528967: 10528967
30 AMPD3 NM_001025389.1(AMPD3): c.*1536T> C single nucleotide variant Uncertain significance rs866636048 GRCh38 Chromosome 11, 10507420: 10507420
31 AMPD3 NM_001025389.1(AMPD3): c.*1585G> A single nucleotide variant Benign rs1545743 GRCh37 Chromosome 11, 10529016: 10529016
32 AMPD3 NM_001025389.1(AMPD3): c.*1585G> A single nucleotide variant Benign rs1545743 GRCh38 Chromosome 11, 10507469: 10507469
33 AMPD3 NM_001025389.1(AMPD3): c.*1676_*1679delTAAA deletion Uncertain significance rs752754496 GRCh37 Chromosome 11, 10529107: 10529110
34 AMPD3 NM_001025389.1(AMPD3): c.*1676_*1679delTAAA deletion Uncertain significance rs752754496 GRCh38 Chromosome 11, 10507560: 10507563
35 AMPD3 NM_001025389.1(AMPD3): c.-303C> T single nucleotide variant Likely benign rs2071019 GRCh38 Chromosome 11, 10455151: 10455151
36 AMPD3 NM_001025389.1(AMPD3): c.-303C> T single nucleotide variant Likely benign rs2071019 GRCh37 Chromosome 11, 10476698: 10476698
37 AMPD3 NM_001025389.1(AMPD3): c.-240A> G single nucleotide variant Uncertain significance rs886047584 GRCh38 Chromosome 11, 10455214: 10455214
38 AMPD3 NM_001025389.1(AMPD3): c.-240A> G single nucleotide variant Uncertain significance rs886047584 GRCh37 Chromosome 11, 10476761: 10476761
39 AMPD3 NM_001025389.1(AMPD3): c.283G> A (p.Asp95Asn) single nucleotide variant Uncertain significance rs149433198 GRCh37 Chromosome 11, 10500134: 10500134
40 AMPD3 NM_001025389.1(AMPD3): c.283G> A (p.Asp95Asn) single nucleotide variant Uncertain significance rs149433198 GRCh38 Chromosome 11, 10478587: 10478587
41 AMPD3 NM_001025389.1(AMPD3): c.553C> T (p.Arg185Trp) single nucleotide variant Benign/Likely benign rs11042836 GRCh37 Chromosome 11, 10503736: 10503736
42 AMPD3 NM_001025389.1(AMPD3): c.553C> T (p.Arg185Trp) single nucleotide variant Benign/Likely benign rs11042836 GRCh38 Chromosome 11, 10482189: 10482189
43 AMPD3 NM_001025389.1(AMPD3): c.669C> T (p.His223=) single nucleotide variant Uncertain significance rs34319136 GRCh37 Chromosome 11, 10506446: 10506446
44 AMPD3 NM_001025389.1(AMPD3): c.669C> T (p.His223=) single nucleotide variant Uncertain significance rs34319136 GRCh38 Chromosome 11, 10484899: 10484899
45 AMPD3 NM_001025389.1(AMPD3): c.981G> T (p.Lys327Asn) single nucleotide variant Uncertain significance rs555477655 GRCh37 Chromosome 11, 10514937: 10514937
46 AMPD3 NM_001025389.1(AMPD3): c.981G> T (p.Lys327Asn) single nucleotide variant Uncertain significance rs555477655 GRCh38 Chromosome 11, 10493390: 10493390
47 AMPD3 NM_001025389.1(AMPD3): c.1258A> G (p.Met420Val) single nucleotide variant Uncertain significance rs184691110 GRCh38 Chromosome 11, 10495022: 10495022
48 AMPD3 NM_001025389.1(AMPD3): c.1258A> G (p.Met420Val) single nucleotide variant Uncertain significance rs184691110 GRCh37 Chromosome 11, 10516569: 10516569
49 AMPD3 NM_001025389.1(AMPD3): c.1516A> G (p.Asn506Asp) single nucleotide variant Uncertain significance rs886047588 GRCh38 Chromosome 11, 10496897: 10496897
50 AMPD3 NM_001025389.1(AMPD3): c.1516A> G (p.Asn506Asp) single nucleotide variant Uncertain significance rs886047588 GRCh37 Chromosome 11, 10518444: 10518444
51 AMPD3 NM_001025389.1(AMPD3): c.*694A> G single nucleotide variant Benign rs2169594 GRCh38 Chromosome 11, 10506578: 10506578
52 AMPD3 NM_001025389.1(AMPD3): c.*694A> G single nucleotide variant Benign rs2169594 GRCh37 Chromosome 11, 10528125: 10528125
53 AMPD3 NM_001025389.1(AMPD3): c.*845A> G single nucleotide variant Uncertain significance rs529360394 GRCh38 Chromosome 11, 10506729: 10506729
54 AMPD3 NM_001025389.1(AMPD3): c.*845A> G single nucleotide variant Uncertain significance rs529360394 GRCh37 Chromosome 11, 10528276: 10528276
55 AMPD3 NM_001025389.1(AMPD3): c.*1297T> C single nucleotide variant Uncertain significance rs886047592 GRCh38 Chromosome 11, 10507181: 10507181
56 AMPD3 NM_001025389.1(AMPD3): c.*1297T> C single nucleotide variant Uncertain significance rs886047592 GRCh37 Chromosome 11, 10528728: 10528728
57 AMPD3 NM_001025389.1(AMPD3): c.-88G> T single nucleotide variant Likely benign rs28403593 GRCh38 Chromosome 11, 10455366: 10455366
58 AMPD3 NM_001025389.1(AMPD3): c.-88G> T single nucleotide variant Likely benign rs28403593 GRCh37 Chromosome 11, 10476913: 10476913
59 AMPD3 NM_001025389.1(AMPD3): c.-48_-43delCAGCGC deletion Uncertain significance rs547362583 GRCh37 Chromosome 11, 10476953: 10476958
60 AMPD3 NM_001025389.1(AMPD3): c.-48_-43delCAGCGC deletion Uncertain significance rs547362583 GRCh38 Chromosome 11, 10455406: 10455411
61 AMPD3 NM_001025389.1(AMPD3): c.353C> T (p.Ser118Phe) single nucleotide variant Uncertain significance rs758624728 GRCh37 Chromosome 11, 10500204: 10500204
62 AMPD3 NM_001025389.1(AMPD3): c.353C> T (p.Ser118Phe) single nucleotide variant Uncertain significance rs758624728 GRCh38 Chromosome 11, 10478657: 10478657
63 AMPD3 NM_001025389.1(AMPD3): c.960G> A (p.Ala320=) single nucleotide variant Uncertain significance rs75283041 GRCh37 Chromosome 11, 10514916: 10514916
64 AMPD3 NM_001025389.1(AMPD3): c.960G> A (p.Ala320=) single nucleotide variant Uncertain significance rs75283041 GRCh38 Chromosome 11, 10493369: 10493369
65 AMPD3 NM_001025389.1(AMPD3): c.1131C> T (p.His377=) single nucleotide variant Uncertain significance rs76407515 GRCh38 Chromosome 11, 10493540: 10493540
66 AMPD3 NM_001025389.1(AMPD3): c.1131C> T (p.His377=) single nucleotide variant Uncertain significance rs76407515 GRCh37 Chromosome 11, 10515087: 10515087
67 AMPD3 NM_001025389.1(AMPD3): c.1452G> A (p.Lys484=) single nucleotide variant Uncertain significance rs371018918 GRCh38 Chromosome 11, 10496833: 10496833
68 AMPD3 NM_001025389.1(AMPD3): c.1452G> A (p.Lys484=) single nucleotide variant Uncertain significance rs371018918 GRCh37 Chromosome 11, 10518380: 10518380
69 AMPD3 NM_001025389.1(AMPD3): c.1689T> C (p.Tyr563=) single nucleotide variant Benign/Likely benign rs3741041 GRCh38 Chromosome 11, 10500217: 10500217
70 AMPD3 NM_001025389.1(AMPD3): c.1689T> C (p.Tyr563=) single nucleotide variant Benign/Likely benign rs3741041 GRCh37 Chromosome 11, 10521764: 10521764
71 AMPD3 NM_001025389.1(AMPD3): c.1728C> T (p.Arg576=) single nucleotide variant Uncertain significance rs150947905 GRCh38 Chromosome 11, 10501476: 10501476
72 AMPD3 NM_001025389.1(AMPD3): c.1728C> T (p.Arg576=) single nucleotide variant Uncertain significance rs150947905 GRCh37 Chromosome 11, 10523023: 10523023
73 AMPD3 NM_001025389.1(AMPD3): c.2289C> T (p.Thr763=) single nucleotide variant Uncertain significance rs138270366 GRCh38 Chromosome 11, 10505869: 10505869
74 AMPD3 NM_001025389.1(AMPD3): c.2289C> T (p.Thr763=) single nucleotide variant Uncertain significance rs138270366 GRCh37 Chromosome 11, 10527416: 10527416
75 AMPD3 NM_001025389.1(AMPD3): c.*1031_*1032dupGT duplication Likely benign rs34205084 GRCh38 Chromosome 11, 10506915: 10506916
76 AMPD3 NM_001025389.1(AMPD3): c.*1031_*1032dupGT duplication Likely benign rs34205084 GRCh37 Chromosome 11, 10528462: 10528463
77 AMPD3 NM_001025389.1(AMPD3): c.*1052A> G single nucleotide variant Benign rs9292 GRCh38 Chromosome 11, 10506936: 10506936
78 AMPD3 NM_001025389.1(AMPD3): c.*1052A> G single nucleotide variant Benign rs9292 GRCh37 Chromosome 11, 10528483: 10528483
79 AMPD3 NM_001025389.1(AMPD3): c.-200G> A single nucleotide variant Uncertain significance rs180772894 GRCh38 Chromosome 11, 10455254: 10455254
80 AMPD3 NM_001025389.1(AMPD3): c.-200G> A single nucleotide variant Uncertain significance rs180772894 GRCh37 Chromosome 11, 10476801: 10476801
81 AMPD3 NM_001025389.1(AMPD3): c.-103T> C single nucleotide variant Likely benign rs899011 GRCh38 Chromosome 11, 10455351: 10455351
82 AMPD3 NM_001025389.1(AMPD3): c.-103T> C single nucleotide variant Likely benign rs899011 GRCh37 Chromosome 11, 10476898: 10476898
83 AMPD3 NM_001025389.1(AMPD3): c.271C> T (p.Pro91Ser) single nucleotide variant Uncertain significance rs201551496 GRCh37 Chromosome 11, 10500122: 10500122
84 AMPD3 NM_001025389.1(AMPD3): c.271C> T (p.Pro91Ser) single nucleotide variant Uncertain significance rs201551496 GRCh38 Chromosome 11, 10478575: 10478575
85 AMPD3 NM_001025389.1(AMPD3): c.325A> G (p.Thr109Ala) single nucleotide variant Uncertain significance rs774974291 GRCh37 Chromosome 11, 10500176: 10500176
86 AMPD3 NM_001025389.1(AMPD3): c.325A> G (p.Thr109Ala) single nucleotide variant Uncertain significance rs774974291 GRCh38 Chromosome 11, 10478629: 10478629
87 AMPD3 NM_001025389.1(AMPD3): c.362C> T (p.Thr121Met) single nucleotide variant Uncertain significance rs780348844 GRCh37 Chromosome 11, 10500213: 10500213
88 AMPD3 NM_001025389.1(AMPD3): c.362C> T (p.Thr121Met) single nucleotide variant Uncertain significance rs780348844 GRCh38 Chromosome 11, 10478666: 10478666
89 AMPD3 NM_001025389.1(AMPD3): c.423C> T (p.Ala141=) single nucleotide variant Uncertain significance rs117002871 GRCh37 Chromosome 11, 10500274: 10500274
90 AMPD3 NM_001025389.1(AMPD3): c.423C> T (p.Ala141=) single nucleotide variant Uncertain significance rs117002871 GRCh38 Chromosome 11, 10478727: 10478727
91 AMPD3 NM_001025389.1(AMPD3): c.460A> G (p.Ser154Gly) single nucleotide variant Uncertain significance rs756660564 GRCh37 Chromosome 11, 10503643: 10503643
92 AMPD3 NM_001025389.1(AMPD3): c.460A> G (p.Ser154Gly) single nucleotide variant Uncertain significance rs756660564 GRCh38 Chromosome 11, 10482096: 10482096
93 AMPD3 NM_001025389.1(AMPD3): c.885C> T (p.Ser295=) single nucleotide variant Uncertain significance rs149271802 GRCh37 Chromosome 11, 10508857: 10508857
94 AMPD3 NM_001025389.1(AMPD3): c.885C> T (p.Ser295=) single nucleotide variant Uncertain significance rs149271802 GRCh38 Chromosome 11, 10487310: 10487310
95 AMPD3 NM_001025389.1(AMPD3): c.1080C> T (p.Asp360=) single nucleotide variant Uncertain significance rs139511483 GRCh37 Chromosome 11, 10515036: 10515036
96 AMPD3 NM_001025389.1(AMPD3): c.1080C> T (p.Asp360=) single nucleotide variant Uncertain significance rs139511483 GRCh38 Chromosome 11, 10493489: 10493489
97 AMPD3 NM_001025389.1(AMPD3): c.1267-13C> A single nucleotide variant Uncertain significance rs376493129 GRCh38 Chromosome 11, 10495557: 10495557
98 AMPD3 NM_001025389.1(AMPD3): c.1267-13C> A single nucleotide variant Uncertain significance rs376493129 GRCh37 Chromosome 11, 10517104: 10517104
99 AMPD3 NM_001025389.1(AMPD3): c.1513A> G (p.Ile505Val) single nucleotide variant Uncertain significance rs141457480 GRCh38 Chromosome 11, 10496894: 10496894
100 AMPD3 NM_001025389.1(AMPD3): c.1513A> G (p.Ile505Val) single nucleotide variant Uncertain significance rs141457480 GRCh37 Chromosome 11, 10518441: 10518441
101 AMPD3 NM_001025389.1(AMPD3): c.1600G> A (p.Asp534Asn) single nucleotide variant Uncertain significance rs750200570 GRCh38 Chromosome 11, 10500128: 10500128
102 AMPD3 NM_001025389.1(AMPD3): c.1600G> A (p.Asp534Asn) single nucleotide variant Uncertain significance rs750200570 GRCh37 Chromosome 11, 10521675: 10521675
103 AMPD3 NM_001025389.1(AMPD3): c.*121delT deletion Uncertain significance rs886047589 GRCh38 Chromosome 11, 10506005: 10506005
104 AMPD3 NM_001025389.1(AMPD3): c.*121delT deletion Uncertain significance rs886047589 GRCh37 Chromosome 11, 10527552: 10527552
105 AMPD3 NM_001025389.1(AMPD3): c.*287T> C single nucleotide variant Uncertain significance rs76318574 GRCh38 Chromosome 11, 10506171: 10506171
106 AMPD3 NM_001025389.1(AMPD3): c.*287T> C single nucleotide variant Uncertain significance rs76318574 GRCh37 Chromosome 11, 10527718: 10527718
107 AMPD3 NM_001025389.1(AMPD3): c.*431A> G single nucleotide variant Uncertain significance rs751822472 GRCh38 Chromosome 11, 10506315: 10506315
108 AMPD3 NM_001025389.1(AMPD3): c.*431A> G single nucleotide variant Uncertain significance rs751822472 GRCh37 Chromosome 11, 10527862: 10527862
109 AMPD3 NM_001025389.1(AMPD3): c.*1070A> G single nucleotide variant Likely benign rs7416 GRCh38 Chromosome 11, 10506954: 10506954
110 AMPD3 NM_001025389.1(AMPD3): c.*1070A> G single nucleotide variant Likely benign rs7416 GRCh37 Chromosome 11, 10528501: 10528501
111 AMPD3 NM_001025389.1(AMPD3): c.*1090A> G single nucleotide variant Benign rs1037998 GRCh38 Chromosome 11, 10506974: 10506974
112 AMPD3 NM_001025389.1(AMPD3): c.*1090A> G single nucleotide variant Benign rs1037998 GRCh37 Chromosome 11, 10528521: 10528521
113 AMPD3 NM_001025389.1(AMPD3): c.*1181dupT duplication Uncertain significance rs765400983 GRCh38 Chromosome 11, 10507065: 10507065
114 AMPD3 NM_001025389.1(AMPD3): c.*1181dupT duplication Uncertain significance rs765400983 GRCh37 Chromosome 11, 10528612: 10528612
115 AMPD3 NM_001025389.1(AMPD3): c.*1681T> C single nucleotide variant Uncertain significance rs551737295 GRCh37 Chromosome 11, 10529112: 10529112
116 AMPD3 NM_001025389.1(AMPD3): c.*1681T> C single nucleotide variant Uncertain significance rs551737295 GRCh38 Chromosome 11, 10507565: 10507565

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:

(showing 1, show less)
# 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 EFO
18 ExPASy
20 FMA
29 GO
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63 PubMed
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70 SNOMED-CT via HPO
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73 Tocris
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75 UMLS via Orphanet
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