AMOXAD
MCID: 2MN001
MIFTS: 34

2-Aminoadipic 2-Oxoadipic Aciduria (AMOXAD)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for 2-Aminoadipic 2-Oxoadipic Aciduria

MalaCards integrated aliases for 2-Aminoadipic 2-Oxoadipic Aciduria:

Name: 2-Aminoadipic 2-Oxoadipic Aciduria 57 40 12 58 72 29 13 6 15
Amoxad 57 12 72
Alpha-Aminoadipic Aciduria 12 58
Aciduria, 2-Aminoadipic 2-Oxoadipic 39
Amino Adipic Aciduria 40

Characteristics:

Orphanet epidemiological data:

58
2-aminoadipic 2-oxoadipic aciduria
Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
based on report of 2 patients with dhtkd1 mutation (last curated november 2014)


HPO:

31
2-aminoadipic 2-oxoadipic aciduria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111453
OMIM® 57 204750
MeSH 44 D000592
ICD10 via Orphanet 33 E72.3
Orphanet 58 ORPHA79154
MedGen 41 C1859817

Summaries for 2-Aminoadipic 2-Oxoadipic Aciduria

UniProtKB/Swiss-Prot : 72 2-aminoadipic 2-oxoadipic aciduria: A metabolic disorder characterized by increased levels of 2-oxoadipate and 2-hydroxyadipate in the urine, and elevated 2-aminoadipate in the plasma. Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic.

MalaCards based summary : 2-Aminoadipic 2-Oxoadipic Aciduria, also known as amoxad, is related to mitochondrial dna depletion syndrome 18 and hypotonia. An important gene associated with 2-Aminoadipic 2-Oxoadipic Aciduria is DHTKD1 (Dehydrogenase E1 And Transketolase Domain Containing 1), and among its related pathways/superpathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Tryptophan metabolism. Related phenotypes are global developmental delay and delayed speech and language development

Disease Ontology : 12 An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has material basis in homozygous or compound heterozygous mutation in DHTKD1 on chromosome 10p14.

More information from OMIM: 204750

Related Diseases for 2-Aminoadipic 2-Oxoadipic Aciduria

Diseases related to 2-Aminoadipic 2-Oxoadipic Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 18 11.5
2 hypotonia 10.3
3 ataxia and polyneuropathy, adult-onset 10.1
4 raynaud phenomenon 10.1
5 cardiomyopathy, infantile hypertrophic 9.9 TRMT10C PET117
6 combined oxidative phosphorylation deficiency 4 9.9 TSFM LYRM7
7 glutaric acidemia i 9.8 GCDH DHTKD1
8 combined oxidative phosphorylation deficiency 9.6 TSFM PNPT1
9 lactic acidosis 9.4 TSFM TRMT10C LYRM7

Graphical network of the top 20 diseases related to 2-Aminoadipic 2-Oxoadipic Aciduria:



Diseases related to 2-Aminoadipic 2-Oxoadipic Aciduria

Symptoms & Phenotypes for 2-Aminoadipic 2-Oxoadipic Aciduria

Human phenotypes related to 2-Aminoadipic 2-Oxoadipic Aciduria:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 delayed speech and language development 31 HP:0000750
3 microcephaly 31 HP:0000252
4 intellectual disability, mild 31 HP:0001256
5 attention deficit hyperactivity disorder 31 HP:0007018
6 generalized hypotonia 31 HP:0001290
7 alpha-aminoadipic aciduria 31 HP:0410309

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
2-aminoadipic aciduria
2-oxoadipic aciduria

Neurologic Behavioral Psychiatric Manifestations:
attention deficit hyperactivity disorder

Neurologic Central Nervous System:
normal intelligence
speech delay
delayed psychomotor development
mental retardation, mild to severe

Clinical features from OMIM®:

204750 (Updated 05-Apr-2021)

Drugs & Therapeutics for 2-Aminoadipic 2-Oxoadipic Aciduria

Search Clinical Trials , NIH Clinical Center for 2-Aminoadipic 2-Oxoadipic Aciduria

Genetic Tests for 2-Aminoadipic 2-Oxoadipic Aciduria

Genetic tests related to 2-Aminoadipic 2-Oxoadipic Aciduria:

# Genetic test Affiliating Genes
1 2-Aminoadipic 2-Oxoadipic Aciduria 29 DHTKD1

Anatomical Context for 2-Aminoadipic 2-Oxoadipic Aciduria

Publications for 2-Aminoadipic 2-Oxoadipic Aciduria

Articles related to 2-Aminoadipic 2-Oxoadipic Aciduria:

(show all 12)
# Title Authors PMID Year
1
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 6 57
23141293 2012
2
New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria. 6
26141459 2016
3
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. 6
25860818 2015
4
Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. 57
10655159 2000
5
A patient with alpha-ketoadipic and alpha-aminoadipic aciduria. 57
6434826 1984
6
Tryptophan and lysine metabolism in alpha-aminoadipic aciduria. 57
6772026 1980
7
Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies. 57
1112064 1975
8
Alpha-amino adipic aciduria in an oligophrenic child. 57
4430147 1974
9
Alpha-aminoadipic aciduria, a non-deleterious inborn metabolic defect. 57
4442872 1974
10
Structure-function analyses of the G729R 2-oxoadipate dehydrogenase genetic variant associated with a disorder of l-lysine metabolism. 61
32303640 2020
11
DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 61
29661920 2018
12
Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism. 61
28545977 2017

Variations for 2-Aminoadipic 2-Oxoadipic Aciduria

ClinVar genetic disease variations for 2-Aminoadipic 2-Oxoadipic Aciduria:

6 (show top 50) (show all 71)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DHTKD1 NM_018706.7(DHTKD1):c.748del (p.Glu250fs) Deletion Pathogenic 570348 rs1564391327 GRCh37: 10:12131015-12131015
GRCh38: 10:12089016-12089016
2 DHTKD1 NM_018706.7(DHTKD1):c.2134C>T (p.Arg712Ter) SNV Pathogenic 572241 rs745432268 GRCh37: 10:12149994-12149994
GRCh38: 10:12107995-12107995
3 DHTKD1 NM_018706.7(DHTKD1):c.2457_2458del (p.Glu821fs) Deletion Pathogenic 644977 rs1271803838 GRCh37: 10:12160801-12160802
GRCh38: 10:12118802-12118803
4 DHTKD1 NM_018706.7(DHTKD1):c.1A>G (p.Met1Val) SNV Pathogenic 39563 rs1564385081 GRCh37: 10:12111033-12111033
GRCh38: 10:12069034-12069034
5 DHTKD1 NM_018706.7(DHTKD1):c.1228C>T (p.Arg410Ter) SNV Pathogenic 39565 rs397514534 GRCh37: 10:12136140-12136140
GRCh38: 10:12094141-12094141
6 DHTKD1 NM_018706.7(DHTKD1):c.467dup (p.Thr157fs) Duplication Pathogenic 424585 rs1554791360 GRCh37: 10:12126694-12126695
GRCh38: 10:12084695-12084696
7 DHTKD1 NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter) SNV Pathogenic 574714 rs138884194 GRCh37: 10:12136221-12136221
GRCh38: 10:12094222-12094222
8 DHTKD1 NM_018706.7(DHTKD1):c.2T>G (p.Met1Arg) SNV Pathogenic 1033498 GRCh37: 10:12111034-12111034
GRCh38: 10:12069035-12069035
9 DHTKD1 NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) SNV Pathogenic/Likely pathogenic 39564 rs117225135 GRCh37: 10:12154929-12154929
GRCh38: 10:12112930-12112930
10 DHTKD1 NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) SNV Likely pathogenic 39564 rs117225135 GRCh37: 10:12154929-12154929
GRCh38: 10:12112930-12112930
11 DHTKD1 NM_018706.7(DHTKD1):c.1897-1G>A SNV Likely pathogenic 467824 rs760386662 GRCh37: 10:12148244-12148244
GRCh38: 10:12106245-12106245
12 DHTKD1 NM_018706.7(DHTKD1):c.2154_2154+1insT Insertion Likely pathogenic 802561 rs1588616299 GRCh37: 10:12150014-12150015
GRCh38: 10:12108015-12108016
13 DHTKD1 NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu) SNV Likely pathogenic 973472 GRCh37: 10:12133642-12133642
GRCh38: 10:12091643-12091643
14 DHTKD1 NM_018706.7(DHTKD1):c.718-5A>G SNV Uncertain significance 930452 GRCh37: 10:12130980-12130980
GRCh38: 10:12088981-12088981
15 DHTKD1 NM_018706.7(DHTKD1):c.1159+4C>T SNV Uncertain significance 966510 GRCh37: 10:12133687-12133687
GRCh38: 10:12091688-12091688
16 DHTKD1 NM_018706.7(DHTKD1):c.2740C>G (p.Leu914Val) SNV Uncertain significance 973449 GRCh37: 10:12162867-12162867
GRCh38: 10:12120868-12120868
17 DHTKD1 NC_000010.11:g.(?_12118729)_(12120287_?)del Deletion Uncertain significance 832407 GRCh37: 10:12160728-12162286
GRCh38:
18 DHTKD1 NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln) SNV Uncertain significance 847040 GRCh37: 10:12126716-12126716
GRCh38: 10:12084717-12084717
19 DHTKD1 NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys) SNV Uncertain significance 548564 rs375292909 GRCh37: 10:12143076-12143076
GRCh38: 10:12101077-12101077
20 DHTKD1 NC_000010.10:g.(?_12111013)_(12162907_?)dup Duplication Uncertain significance 647961 GRCh37: 10:12111013-12162907
GRCh38: 10:12069014-12120908
21 DHTKD1 NM_018706.7(DHTKD1):c.2454A>G (p.Lys818=) SNV Uncertain significance 652602 rs544154603 GRCh37: 10:12160799-12160799
GRCh38: 10:12118800-12118800
22 DHTKD1 NM_018706.7(DHTKD1):c.610G>A (p.Glu204Lys) SNV Uncertain significance 572993 rs751438050 GRCh37: 10:12129621-12129621
GRCh38: 10:12087622-12087622
23 DHTKD1 NM_018706.7(DHTKD1):c.923G>A (p.Arg308His) SNV Uncertain significance 578237 rs17849603 GRCh37: 10:12131190-12131190
GRCh38: 10:12089191-12089191
24 DHTKD1 NM_018706.7(DHTKD1):c.1223C>T (p.Ala408Val) SNV Uncertain significance 580163 rs1564392988 GRCh37: 10:12136135-12136135
GRCh38: 10:12094136-12094136
25 DHTKD1 NM_018706.7(DHTKD1):c.104C>T (p.Pro35Leu) SNV Uncertain significance 587471 rs753355529 GRCh37: 10:12111136-12111136
GRCh38: 10:12069137-12069137
26 DHTKD1 NM_018706.7(DHTKD1):c.1573G>A (p.Gly525Ser) SNV Uncertain significance 638336 rs1588612342 GRCh37: 10:12139897-12139897
GRCh38: 10:12097898-12097898
27 DHTKD1 NM_018706.7(DHTKD1):c.2572+5G>A SNV Uncertain significance 1003069 GRCh37: 10:12160922-12160922
GRCh38: 10:12118923-12118923
28 DHTKD1 NM_018706.7(DHTKD1):c.2319G>A (p.Pro773=) SNV Uncertain significance 1009821 GRCh37: 10:12155063-12155063
GRCh38: 10:12113064-12113064
29 DHTKD1 NM_018706.7(DHTKD1):c.2326G>T (p.Val776Leu) SNV Uncertain significance 840385 GRCh37: 10:12159678-12159678
GRCh38: 10:12117679-12117679
30 DHTKD1 NM_018706.7(DHTKD1):c.2662C>A (p.Arg888Ser) SNV Uncertain significance 858915 GRCh37: 10:12162789-12162789
GRCh38: 10:12120790-12120790
31 DHTKD1 NM_018706.7(DHTKD1):c.2252_2266del (p.Arg751_Arg755del) Deletion Uncertain significance 948887 GRCh37: 10:12154993-12155007
GRCh38: 10:12112994-12113008
32 DHTKD1 NM_018706.7(DHTKD1):c.1067T>C (p.Ile356Thr) SNV Uncertain significance 1013654 GRCh37: 10:12133591-12133591
GRCh38: 10:12091592-12091592
33 DHTKD1 NM_018706.7(DHTKD1):c.2390T>C (p.Val797Ala) SNV Uncertain significance 1023096 GRCh37: 10:12159742-12159742
GRCh38: 10:12117743-12117743
34 DHTKD1 NC_000010.10:g.(?_12160728)_(12162286_?)del Deletion Uncertain significance 1025139 GRCh37: 10:12160728-12162286
GRCh38:
35 DHTKD1 NM_018706.7(DHTKD1):c.1093A>T (p.Asn365Tyr) SNV Uncertain significance 845576 GRCh37: 10:12133617-12133617
GRCh38: 10:12091618-12091618
36 DHTKD1 NM_018706.7(DHTKD1):c.2008A>G (p.Asn670Asp) SNV Uncertain significance 864576 GRCh37: 10:12148356-12148356
GRCh38: 10:12106357-12106357
37 DHTKD1 NM_018706.7(DHTKD1):c.700C>A (p.Leu234Met) SNV Uncertain significance 933940 GRCh37: 10:12129711-12129711
GRCh38: 10:12087712-12087712
38 DHTKD1 NM_018706.7(DHTKD1):c.446G>A (p.Arg149Gln) SNV Uncertain significance 1033499 GRCh37: 10:12126674-12126674
GRCh38: 10:12084675-12084675
39 DHTKD1 NM_018706.7(DHTKD1):c.1382C>A (p.Thr461Lys) SNV Uncertain significance 1029711 GRCh37: 10:12139706-12139706
GRCh38: 10:12097707-12097707
40 DHTKD1 NM_018706.7(DHTKD1):c.1382C>G (p.Thr461Arg) SNV Uncertain significance 1029712 GRCh37: 10:12139706-12139706
GRCh38: 10:12097707-12097707
41 DHTKD1 NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg) SNV Uncertain significance 585057 rs1016086446 GRCh37: 10:12162874-12162874
GRCh38: 10:12120875-12120875
42 DHTKD1 NM_018706.7(DHTKD1):c.71A>G (p.Tyr24Cys) SNV Uncertain significance 1029713 GRCh37: 10:12111103-12111103
GRCh38: 10:12069104-12069104
43 DHTKD1 NM_018706.7(DHTKD1):c.1594C>T (p.Arg532Trp) SNV Uncertain significance 1029714 GRCh37: 10:12139918-12139918
GRCh38: 10:12097919-12097919
44 DHTKD1 NM_018706.7(DHTKD1):c.2266A>T (p.Asn756Tyr) SNV Uncertain significance 1033497 GRCh37: 10:12155010-12155010
GRCh38: 10:12113011-12113011
45 DHTKD1 NM_018706.7(DHTKD1):c.1079T>C (p.Val360Ala) SNV Likely benign 374604 rs147571909 GRCh37: 10:12133603-12133603
GRCh38: 10:12091604-12091604
46 DHTKD1 NM_018706.7(DHTKD1):c.628G>T (p.Ala210Ser) SNV Likely benign 785771 rs146741810 GRCh37: 10:12129639-12129639
GRCh38: 10:12087640-12087640
47 DHTKD1 NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly) SNV Likely benign 774680 rs34644609 GRCh37: 10:12123525-12123525
GRCh38: 10:12081526-12081526
48 DHTKD1 NM_018706.7(DHTKD1):c.930C>T (p.Asp310=) SNV Likely benign 716715 rs149203530 GRCh37: 10:12131197-12131197
GRCh38: 10:12089198-12089198
49 DHTKD1 NM_018706.7(DHTKD1):c.2048-4C>T SNV Likely benign 733199 rs375385370 GRCh37: 10:12149904-12149904
GRCh38: 10:12107905-12107905
50 DHTKD1 NM_018706.7(DHTKD1):c.1358+9A>G SNV Likely benign 747516 rs1270166462 GRCh37: 10:12136279-12136279
GRCh38: 10:12094280-12094280

UniProtKB/Swiss-Prot genetic disease variations for 2-Aminoadipic 2-Oxoadipic Aciduria:

72
# Symbol AA change Variation ID SNP ID
1 DHTKD1 p.Gly729Arg VAR_069585 rs117225135

Expression for 2-Aminoadipic 2-Oxoadipic Aciduria

Search GEO for disease gene expression data for 2-Aminoadipic 2-Oxoadipic Aciduria.

Pathways for 2-Aminoadipic 2-Oxoadipic Aciduria

GO Terms for 2-Aminoadipic 2-Oxoadipic Aciduria

Cellular components related to 2-Aminoadipic 2-Oxoadipic Aciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.43 TSFM TRMT10C PNPT1 LYRM7 GCDH DHTKD1
2 mitochondrion GO:0005739 9.23 TSFM TRMT10C SLC25A21 PNPT1 PET117 LYRM7

Biological processes related to 2-Aminoadipic 2-Oxoadipic Aciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysine catabolic process GO:0006554 8.96 SLC25A21 GCDH
2 mitochondrial RNA 5'-end processing GO:0000964 8.62 TRMT10C PNPT1

Sources for 2-Aminoadipic 2-Oxoadipic Aciduria

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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