MCID: DCR008
MIFTS: 37

Dicarboxylic Aminoaciduria

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Dicarboxylic Aminoaciduria

MalaCards integrated aliases for Dicarboxylic Aminoaciduria:

Name: Dicarboxylic Aminoaciduria 57 12 53 59 75 37 29 6 15 40
Glutamate-Aspartate Transport Defect 57 12 53 59 75
Dicarboxylicaminoaciduria 76 53 44 73
Renal Aminoacidurias 44 73
Dcbxa 57 75

Characteristics:

Orphanet epidemiological data:

59
dicarboxylic aminoaciduria
Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
dicarboxylic aminoaciduria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 222730
Disease Ontology 12 DOID:0060650
ICD10 33 E72.0
Orphanet 59 ORPHA2195
MESH via Orphanet 45 C536171
UMLS via Orphanet 74 C1857253
ICD10 via Orphanet 34 E72.0
MedGen 42 C1857253
KEGG 37 H00911

Summaries for Dicarboxylic Aminoaciduria

NIH Rare Diseases : 53 Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the excessive loss of aspartate and glutamate in urine. Symptoms have varied greatly among the few reported cases. Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. It is inherited in an autosomal recessive fashion.

MalaCards based summary : Dicarboxylic Aminoaciduria, also known as glutamate-aspartate transport defect, is related to aminoaciduria and inborn renal aminoaciduria. An important gene associated with Dicarboxylic Aminoaciduria is SLC1A1 (Solute Carrier Family 1 Member 1), and among its related pathways/superpathways are Protein digestion and absorption and Glutamatergic synapse. Affiliated tissues include kidney and lung, and related phenotypes are intellectual disability and fasting hypoglycemia

UniProtKB/Swiss-Prot : 75 Dicarboxylic aminoaciduria: An autosomal recessive disorder characterized by abnormal excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. It can be associated with mental retardation.

Wikipedia : 76 Dicarboxylic aminoaciduria is a rare form of aminoaciduria (1:35 000 births) which is an autosomal... more...

Description from OMIM: 222730

Related Diseases for Dicarboxylic Aminoaciduria

Diseases related to Dicarboxylic Aminoaciduria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aminoaciduria 30.6 SLC1A1 SPATA6L
2 inborn renal aminoaciduria 12.2
3 hyperprolinemia 10.0
4 episodic ataxia, type 6 9.9 SLC1A1 SLC1A3
5 low tension glaucoma 9.8 SLC1A1 SLC1A3
6 episodic ataxia 9.6 SLC1A1 SLC1A3
7 wernicke encephalopathy 9.4 SLC1A2 SLC1A3
8 temporal lobe epilepsy 9.0 SLC1A1 SLC1A2 SLC1A3
9 amyotrophic lateral sclerosis 1 8.7 SLC1A1 SLC1A2 SLC1A3
10 schizophrenia 8.4 SLC1A1 SLC1A2 SLC1A3

Graphical network of the top 20 diseases related to Dicarboxylic Aminoaciduria:



Diseases related to Dicarboxylic Aminoaciduria

Symptoms & Phenotypes for Dicarboxylic Aminoaciduria

Symptoms via clinical synopsis from OMIM:

57
Neuro:
mental retardation

Lab:
aspartic aciduria
glutamic aciduria
fasting hypoglycemia


Clinical features from OMIM:

222730

Human phenotypes related to Dicarboxylic Aminoaciduria:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 fasting hypoglycemia 32 HP:0003162
3 aminoaciduria 32 HP:0003355

Drugs & Therapeutics for Dicarboxylic Aminoaciduria

Search Clinical Trials , NIH Clinical Center for Dicarboxylic Aminoaciduria

Cochrane evidence based reviews: renal aminoacidurias

Genetic Tests for Dicarboxylic Aminoaciduria

Genetic tests related to Dicarboxylic Aminoaciduria:

# Genetic test Affiliating Genes
1 Dicarboxylic Aminoaciduria 29 SLC1A1

Anatomical Context for Dicarboxylic Aminoaciduria

MalaCards organs/tissues related to Dicarboxylic Aminoaciduria:

41
Kidney, Lung

Publications for Dicarboxylic Aminoaciduria

Articles related to Dicarboxylic Aminoaciduria:

# Title Authors Year
1
Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. ( 21123949 )
2011
2
Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration. ( 9233792 )
1997
3
Dicarboxylic aminoaciduria. ( 7707705 )
1994
4
Assignment of the gene coding for the human high-affinity glutamate transporter EAAC1 to 9p24: potential role in dicarboxylic aminoaciduria and neurodegenerative disorders. ( 8020993 )
1994
5
Dicarboxylic aminoaciduria associated with mental retardation. ( 2567279 )
1989
6
Dicarboxylic amino acid uptake in normal, Friedreich's ataxia, and dicarboxylic aminoaciduria fibroblasts. ( 487320 )
1979
7
Dicarboxylic aminoaciduria: an inborn error of amino acid conservation. ( 894411 )
1977
8
Dicarboxylic aminoaciduria: an inborn error of glutamate and aspartate transport with metabolic implications, in combination with a hyperprolinemia. ( 4810805 )
1974

Variations for Dicarboxylic Aminoaciduria

UniProtKB/Swiss-Prot genetic disease variations for Dicarboxylic Aminoaciduria:

75
# Symbol AA change Variation ID SNP ID
1 SLC1A1 p.Arg445Trp VAR_071954 rs587777696

ClinVar genetic disease variations for Dicarboxylic Aminoaciduria:

6
(show top 50) (show all 132)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC1A1 NM_004170.5(SLC1A1): c.1333C> T (p.Arg445Trp) single nucleotide variant Pathogenic rs587777696 GRCh37 Chromosome 9, 4585316: 4585316
2 SLC1A1 NM_004170.5(SLC1A1): c.1333C> T (p.Arg445Trp) single nucleotide variant Pathogenic rs587777696 GRCh38 Chromosome 9, 4585316: 4585316
3 SLC1A1 NM_004170.5(SLC1A1): c.1184_1186delTCA (p.Ile395del) deletion Pathogenic rs587777697 GRCh38 Chromosome 9, 4576754: 4576756
4 SLC1A1 NM_004170.5(SLC1A1): c.1184_1186delTCA (p.Ile395del) deletion Pathogenic rs587777697 GRCh37 Chromosome 9, 4576754: 4576756
5 SLC1A1 NM_004170.5(SLC1A1): c.-167C> G single nucleotide variant Uncertain significance rs12000219 GRCh37 Chromosome 9, 4490513: 4490513
6 SLC1A1 NM_004170.5(SLC1A1): c.-167C> G single nucleotide variant Uncertain significance rs12000219 GRCh38 Chromosome 9, 4490513: 4490513
7 SLC1A1 NM_004170.5(SLC1A1): c.149T> A (p.Phe50Tyr) single nucleotide variant Likely benign rs2228621 GRCh37 Chromosome 9, 4544624: 4544624
8 SLC1A1 NM_004170.5(SLC1A1): c.149T> A (p.Phe50Tyr) single nucleotide variant Likely benign rs2228621 GRCh38 Chromosome 9, 4544624: 4544624
9 SLC1A1 NM_004170.5(SLC1A1): c.165T> C (p.Pro55=) single nucleotide variant Uncertain significance rs142903137 GRCh37 Chromosome 9, 4544640: 4544640
10 SLC1A1 NM_004170.5(SLC1A1): c.165T> C (p.Pro55=) single nucleotide variant Uncertain significance rs142903137 GRCh38 Chromosome 9, 4544640: 4544640
11 SLC1A1 NM_004170.5(SLC1A1): c.441-5A> C single nucleotide variant Uncertain significance rs774710357 GRCh37 Chromosome 9, 4566042: 4566042
12 SLC1A1 NM_004170.5(SLC1A1): c.441-5A> C single nucleotide variant Uncertain significance rs774710357 GRCh38 Chromosome 9, 4566042: 4566042
13 SLC1A1 NM_004170.5(SLC1A1): c.1254C> G (p.Thr418=) single nucleotide variant Uncertain significance rs886063965 GRCh37 Chromosome 9, 4583098: 4583098
14 SLC1A1 NM_004170.5(SLC1A1): c.1254C> G (p.Thr418=) single nucleotide variant Uncertain significance rs886063965 GRCh38 Chromosome 9, 4583098: 4583098
15 SLC1A1 NM_004170.5(SLC1A1): c.1483G> A (p.Glu495Lys) single nucleotide variant Uncertain significance rs764152210 GRCh37 Chromosome 9, 4585466: 4585466
16 SLC1A1 NM_004170.5(SLC1A1): c.1483G> A (p.Glu495Lys) single nucleotide variant Uncertain significance rs764152210 GRCh38 Chromosome 9, 4585466: 4585466
17 SLC1A1 NM_004170.5(SLC1A1): c.*366T> C single nucleotide variant Likely benign rs77785435 GRCh37 Chromosome 9, 4585924: 4585924
18 SLC1A1 NM_004170.5(SLC1A1): c.*366T> C single nucleotide variant Likely benign rs77785435 GRCh38 Chromosome 9, 4585924: 4585924
19 SLC1A1 NM_004170.5(SLC1A1): c.*438T> C single nucleotide variant Uncertain significance rs886063969 GRCh37 Chromosome 9, 4585996: 4585996
20 SLC1A1 NM_004170.5(SLC1A1): c.*438T> C single nucleotide variant Uncertain significance rs886063969 GRCh38 Chromosome 9, 4585996: 4585996
21 SLC1A1 NM_004170.5(SLC1A1): c.*887T> C single nucleotide variant Uncertain significance rs182923521 GRCh37 Chromosome 9, 4586445: 4586445
22 SLC1A1 NM_004170.5(SLC1A1): c.*887T> C single nucleotide variant Uncertain significance rs182923521 GRCh38 Chromosome 9, 4586445: 4586445
23 SLC1A1 NM_004170.5(SLC1A1): c.*987T> C single nucleotide variant Uncertain significance rs886063973 GRCh38 Chromosome 9, 4586545: 4586545
24 SLC1A1 NM_004170.5(SLC1A1): c.*987T> C single nucleotide variant Uncertain significance rs886063973 GRCh37 Chromosome 9, 4586545: 4586545
25 SLC1A1 NM_004170.5(SLC1A1): c.*1063A> G single nucleotide variant Uncertain significance rs886063974 GRCh37 Chromosome 9, 4586621: 4586621
26 SLC1A1 NM_004170.5(SLC1A1): c.*1063A> G single nucleotide variant Uncertain significance rs886063974 GRCh38 Chromosome 9, 4586621: 4586621
27 SLC1A1 NM_004170.5(SLC1A1): c.*1076A> C single nucleotide variant Uncertain significance rs886063975 GRCh37 Chromosome 9, 4586634: 4586634
28 SLC1A1 NM_004170.5(SLC1A1): c.*1076A> C single nucleotide variant Uncertain significance rs886063975 GRCh38 Chromosome 9, 4586634: 4586634
29 SLC1A1 NM_004170.5(SLC1A1): c.*1250G> C single nucleotide variant Benign rs3087879 GRCh37 Chromosome 9, 4586808: 4586808
30 SLC1A1 NM_004170.5(SLC1A1): c.*1250G> C single nucleotide variant Benign rs3087879 GRCh38 Chromosome 9, 4586808: 4586808
31 SLC1A1 NM_004170.5(SLC1A1): c.*1361T> C single nucleotide variant Likely benign rs1051825 GRCh37 Chromosome 9, 4586919: 4586919
32 SLC1A1 NM_004170.5(SLC1A1): c.*1361T> C single nucleotide variant Likely benign rs1051825 GRCh38 Chromosome 9, 4586919: 4586919
33 SLC1A1 NM_004170.5(SLC1A1): c.*1545T> A single nucleotide variant Uncertain significance rs570678801 GRCh37 Chromosome 9, 4587103: 4587103
34 SLC1A1 NM_004170.5(SLC1A1): c.*1545T> A single nucleotide variant Uncertain significance rs570678801 GRCh38 Chromosome 9, 4587103: 4587103
35 SLC1A1 NM_004170.5(SLC1A1): c.*1588A> G single nucleotide variant Benign rs3056 GRCh37 Chromosome 9, 4587146: 4587146
36 SLC1A1 NM_004170.5(SLC1A1): c.*1588A> G single nucleotide variant Benign rs3056 GRCh38 Chromosome 9, 4587146: 4587146
37 SLC1A1 NM_004170.5(SLC1A1): c.*1597T> C single nucleotide variant Uncertain significance rs886063979 GRCh37 Chromosome 9, 4587155: 4587155
38 SLC1A1 NM_004170.5(SLC1A1): c.*1597T> C single nucleotide variant Uncertain significance rs886063979 GRCh38 Chromosome 9, 4587155: 4587155
39 SLC1A1 NM_004170.5(SLC1A1): c.*1603A> G single nucleotide variant Likely benign rs1051835 GRCh37 Chromosome 9, 4587161: 4587161
40 SLC1A1 NM_004170.5(SLC1A1): c.*1603A> G single nucleotide variant Likely benign rs1051835 GRCh38 Chromosome 9, 4587161: 4587161
41 SLC1A1 NM_004170.5(SLC1A1): c.-86G> C single nucleotide variant Uncertain significance rs868790014 GRCh37 Chromosome 9, 4490594: 4490594
42 SLC1A1 NM_004170.5(SLC1A1): c.-86G> C single nucleotide variant Uncertain significance rs868790014 GRCh38 Chromosome 9, 4490594: 4490594
43 SLC1A1 NM_004170.5(SLC1A1): c.120A> G (p.Glu40=) single nucleotide variant Uncertain significance rs749298509 GRCh37 Chromosome 9, 4544595: 4544595
44 SLC1A1 NM_004170.5(SLC1A1): c.120A> G (p.Glu40=) single nucleotide variant Uncertain significance rs749298509 GRCh38 Chromosome 9, 4544595: 4544595
45 SLC1A1 NM_004170.5(SLC1A1): c.232+14A> T single nucleotide variant Benign rs45518336 GRCh37 Chromosome 9, 4544721: 4544721
46 SLC1A1 NM_004170.5(SLC1A1): c.232+14A> T single nucleotide variant Benign rs45518336 GRCh38 Chromosome 9, 4544721: 4544721
47 SLC1A1 NM_004170.5(SLC1A1): c.1110T> C (p.Thr370=) single nucleotide variant Benign rs301430 GRCh37 Chromosome 9, 4576680: 4576680
48 SLC1A1 NM_004170.5(SLC1A1): c.1110T> C (p.Thr370=) single nucleotide variant Benign rs301430 GRCh38 Chromosome 9, 4576680: 4576680
49 SLC1A1 NM_004170.5(SLC1A1): c.*2G> A single nucleotide variant Uncertain significance rs148981203 GRCh38 Chromosome 9, 4585560: 4585560
50 SLC1A1 NM_004170.5(SLC1A1): c.*2G> A single nucleotide variant Uncertain significance rs148981203 GRCh37 Chromosome 9, 4585560: 4585560

Expression for Dicarboxylic Aminoaciduria

Search GEO for disease gene expression data for Dicarboxylic Aminoaciduria.

Pathways for Dicarboxylic Aminoaciduria

Pathways related to Dicarboxylic Aminoaciduria according to KEGG:

37
# Name Kegg Source Accession
1 Protein digestion and absorption hsa04974
2 Glutamatergic synapse hsa04724

Pathways related to Dicarboxylic Aminoaciduria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 SLC1A1 SLC1A2 SLC1A3 SLC1A6 SLC6A18
2
Show member pathways
12.54 SLC1A1 SLC1A2 SLC1A3 SLC1A6
3
Show member pathways
12.48 SLC1A1 SLC1A2 SLC1A3 SLC1A6
4 12.11 SLC1A1 SLC1A2 SLC1A3
5
Show member pathways
11.39 SLC1A1 SLC1A2 SLC1A3
6
Show member pathways
11.15 SLC1A1 SLC1A2 SLC1A3 SLC1A6
7
Show member pathways
9.86 SLC1A2 SLC1A3

GO Terms for Dicarboxylic Aminoaciduria

Cellular components related to Dicarboxylic Aminoaciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.02 SLC1A1 SLC1A2 SLC1A3 SLC1A6 SLC6A18

Biological processes related to Dicarboxylic Aminoaciduria according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.78 SLC1A1 SLC1A2 SLC1A3 SLC1A6
2 transmembrane transport GO:0055085 9.76 SLC1A1 SLC1A2 SLC1A3 SLC1A6
3 chemical synaptic transmission GO:0007268 9.71 SLC1A1 SLC1A2 SLC1A3 SLC1A6
4 glutamate secretion GO:0014047 9.56 SLC1A1 SLC1A2 SLC1A3 SLC1A6
5 chloride transmembrane transport GO:1902476 9.52 SLC1A1 SLC1A3
6 response to wounding GO:0009611 9.51 SLC1A2 SLC1A3
7 D-aspartate import across plasma membrane GO:0070779 9.5 SLC1A1 SLC1A2 SLC1A3
8 response to light stimulus GO:0009416 9.49 SLC1A2 SLC1A3
9 L-glutamate transmembrane transport GO:0015813 9.46 SLC1A1 SLC1A2 SLC1A3 SLC1A6
10 L-glutamate import GO:0051938 9.43 SLC1A1 SLC1A3
11 L-aspartate import across plasma membrane GO:0140009 9.37 SLC1A1 SLC1A3
12 amino acid transport GO:0006865 9.35 SLC1A1 SLC1A2 SLC1A3 SLC1A6 SLC6A18
13 L-glutamate import across plasma membrane GO:0098712 8.92 SLC1A1 SLC1A2 SLC1A3 SLC1A6

Molecular functions related to Dicarboxylic Aminoaciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.55 SLC1A1 SLC1A2 SLC1A3 SLC1A6 SLC6A18
2 L-glutamate transmembrane transporter activity GO:0005313 9.5 SLC1A1 SLC1A2 SLC1A3
3 glutamate:sodium symporter activity GO:0015501 9.43 SLC1A1 SLC1A2 SLC1A3
4 glutamate binding GO:0016595 9.37 SLC1A1 SLC1A3
5 amino acid transmembrane transporter activity GO:0015171 9.35 SLC1A1 SLC1A2 SLC1A3 SLC1A6 SLC6A18
6 high-affinity glutamate transmembrane transporter activity GO:0005314 8.92 SLC1A1 SLC1A2 SLC1A3 SLC1A6

Sources for Dicarboxylic Aminoaciduria

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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