MCID: 2MN001
MIFTS: 17

2-Aminoadipic 2-Oxoadipic Aciduria

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 41 59 75 29 13 6
Amoxad 57 75
Aciduria, 2-Aminoadipic 2-Oxoadipic 40
Alpha-Aminoadipic Aciduria 59
Amino Adipic Aciduria 41

Characteristics:

Orphanet epidemiological data:

59
2-aminoadipic 2-oxoadipic aciduria
Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
2-aminoadipic 2-oxoadipic aciduria:
Inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 204750
Orphanet 59 ORPHA79154
ICD10 via Orphanet 34 E72.3
MedGen 42 C1859817
MeSH 44 D000592

Summaries for 2-Aminoadipic 2-Oxoadipic Aciduria

UniProtKB/Swiss-Prot : 75 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, is also known as amoxad. An important gene associated with 2-Aminoadipic 2-Oxoadipic Aciduria is DHTKD1 (Dehydrogenase E1 And Transketolase Domain Containing 1). Related phenotypes are global developmental delay and delayed speech and language development

Description from OMIM: 204750

Related Diseases for 2-Aminoadipic 2-Oxoadipic Aciduria

Symptoms & Phenotypes for 2-Aminoadipic 2-Oxoadipic Aciduria

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

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

Laboratory Abnormalities:
2-aminoadipic aciduria
2-oxoadipic aciduria

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
attention deficit hyperactivity disorder


Clinical features from OMIM:

204750

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 delayed speech and language development 32 HP:0000750
3 microcephaly 32 HP:0000252
4 intellectual disability, mild 32 HP:0001256
5 aminoaciduria 32 HP:0003355
6 attention deficit hyperactivity disorder 32 HP:0007018
7 generalized hypotonia 32 HP:0001290

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

Variations for 2-Aminoadipic 2-Oxoadipic Aciduria

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

75
# Symbol AA change Variation ID SNP ID
1 DHTKD1 p.Gly729Arg VAR_069585 rs117225135

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DHTKD1 DHTKD1, 1A-G single nucleotide variant Pathogenic
2 DHTKD1 NM_018706.6(DHTKD1): c.1228C> T (p.Arg410Ter) single nucleotide variant Pathogenic rs397514534 GRCh37 Chromosome 10, 12136140: 12136140
3 DHTKD1 NM_018706.6(DHTKD1): c.1228C> T (p.Arg410Ter) single nucleotide variant Pathogenic rs397514534 GRCh38 Chromosome 10, 12094141: 12094141
4 DHTKD1 NM_018706.6(DHTKD1): c.2143C> T (p.Arg715Cys) single nucleotide variant no interpretation for the single variant rs200788729 GRCh37 Chromosome 10, 12150003: 12150003
5 DHTKD1 NM_018706.6(DHTKD1): c.2143C> T (p.Arg715Cys) single nucleotide variant no interpretation for the single variant rs200788729 GRCh38 Chromosome 10, 12108004: 12108004
6 DHTKD1 NM_018706.6(DHTKD1): c.1897-1G> A single nucleotide variant Likely pathogenic rs760386662 GRCh37 Chromosome 10, 12148244: 12148244
7 DHTKD1 NM_018706.6(DHTKD1): c.1897-1G> A single nucleotide variant Likely pathogenic rs760386662 GRCh38 Chromosome 10, 12106245: 12106245

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

Sources for 2-Aminoadipic 2-Oxoadipic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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