MCID: AMN006
MIFTS: 36

Aminoaciduria

Categories: Nephrological diseases, Rare diseases
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Aliases & Classifications for Aminoaciduria

MalaCards integrated aliases for Aminoaciduria:

Name: Aminoaciduria 19 28 53 5 71 75 33

Classifications:



External Ids:

ICD11 33 1360782719
UMLS 71 C0238621

Summaries for Aminoaciduria

MalaCards based summary: Aminoaciduria is related to fanconi renotubular syndrome 1 and renal glucosuria. An important gene associated with Aminoaciduria is CLTRN (Collectrin, Amino Acid Transport Regulator), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Disorders of transmembrane transporters. Affiliated tissues include kidney, bone and liver, and related phenotypes are renal/urinary system and homeostasis/metabolism

Wikipedia: 75 Aminoaciduria occurs when the urine contains abnormally high amounts of amino acids. In the healthy... more...

Related Diseases for Aminoaciduria

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

(show top 50) (show all 200)
# Related Disease Score Top Affiliating Genes
1 fanconi renotubular syndrome 1 31.7 SLC34A1 GATM
2 renal glucosuria 31.5 SLC5A2 HNF1A
3 dent disease 1 31.4 SLC34A1 OCRL CLCN5
4 hartnup disorder 31.2 SLC7A9 SLC6A19 SLC3A1 CLTRN
5 rickets 30.6 SLC34A1 OCRL CLCN5
6 cystinuria 30.4 SLC7A9 SLC6A19 SLC3A1 SLC34A1 CLCN5
7 renal tubular acidosis 30.1 OCRL CLCN5 B2M
8 hypophosphatemic rickets, x-linked recessive 29.6 SLC34A1 OCRL CLCN5
9 hypophosphatemia 29.6 SLC34A1 OCRL CLCN5
10 nephrolithiasis, calcium oxalate 29.5 SLC34A1 CLCN5
11 iminoglycinuria 29.4 SLC7A9 SLC6A19 CLTRN
12 maturity-onset diabetes of the young 29.3 SLC5A2 HNF4A HNF1A CLTRN
13 nephrocalcinosis 29.2 SLC3A1 SLC34A1 OCRL CLCN5
14 fanconi syndrome 29.1 SLC5A2 SLC34A1 OCRL NDUFAF6 HNF4A HNF1A
15 dicarboxylic aminoaciduria 11.7
16 gracile syndrome 11.6
17 lysinuric protein intolerance 11.3
18 fanconi renotubular syndrome 3 11.1
19 inborn renal aminoaciduria 11.1
20 dent disease 2 11.0
21 lowe oculocerebrorenal syndrome 11.0
22 rowley-rosenberg syndrome 11.0
23 dibasic amino aciduria i 11.0
24 paine syndrome 10.9
25 renal tubular acidosis, proximal 10.9
26 fanconi renotubular syndrome 2 10.9
27 interstitial lung and liver disease 10.9
28 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 10.9
29 fanconi renotubular syndrome 5 10.9
30 primary tubular proximal acidosis 10.9
31 acquired monoclonal ig light chain-associated fanconi syndrome 10.9
32 muscular dystrophy 10.3
33 progressive muscular dystrophy 10.3
34 cystinosis 10.2
35 hyperinsulinism due to hnf1a deficiency 10.2 HNF4A HNF1A
36 hepatic adenomas, familial 10.2 HNF4A HNF1A
37 maturity-onset diabetes of the young, type 6 10.1 HNF4A HNF1A
38 bone disease 10.1
39 donnai-barrow syndrome 10.1 OCRL CLCN5
40 maturity-onset diabetes of the young, type 4 10.1 HNF4A HNF1A
41 maturity-onset diabetes of the young, type 2 10.1 HNF4A HNF1A
42 porphyria, acute hepatic 10.1
43 deficiency anemia 10.1
44 nephrotic syndrome 10.1
45 secondary hyperparathyroidism 10.1
46 hyperparathyroidism 10.1
47 hypophosphatemic nephrolithiasis/osteoporosis 10.1 SLC34A1 CLCN5
48 renal cysts and diabetes syndrome 10.1 HNF4A HNF1A
49 wilson disease 10.1
50 osteomalacia 10.1

Graphical network of the top 20 diseases related to Aminoaciduria:



Diseases related to Aminoaciduria

Symptoms & Phenotypes for Aminoaciduria

MGI Mouse Phenotypes related to Aminoaciduria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 10.13 BCS1L CLCN5 CLTRN GATM HNF1A HNF4A
2 homeostasis/metabolism MP:0005376 9.83 B2M BCS1L CLCN5 CLTRN EHHADH GATM
3 liver/biliary system MP:0005370 9.8 B2M BCS1L CLCN5 EHHADH GATM HNF1A
4 adipose tissue MP:0005375 9.63 CLTRN GATM HNF1A SLC3A1 SLC5A2 SLC6A19
5 growth/size/body region MP:0005378 9.47 B2M BCS1L CLCN5 CLTRN EHHADH GATM

Drugs & Therapeutics for Aminoaciduria

Search Clinical Trials, NIH Clinical Center for Aminoaciduria

Genetic Tests for Aminoaciduria

Genetic tests related to Aminoaciduria:

# Genetic test Affiliating Genes
1 Aminoaciduria 28

Anatomical Context for Aminoaciduria

Organs/tissues related to Aminoaciduria:

MalaCards : Kidney, Bone, Liver, Bone Marrow, Small Intestine, Myeloid, Skin

Publications for Aminoaciduria

Articles related to Aminoaciduria:

(show top 50) (show all 816)
# Title Authors PMID Year
1
The serum and glucocorticoid inducible kinases SGK1-3 stimulate the neutral amino acid transporter SLC6A19. 53 62
20511718 2010
2
Persistence of the common Hartnup disease D173N allele in populations of European origin. 53 62
17555458 2007
3
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. 53 62
15610225 2005
4
Serum amino acids in patients with mutations in the hepatocyte nuclear factor-1 alpha gene. 53 62
15270800 2004
5
The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria. 53 62
11522670 2001
6
The amino acid transport system b(o,+) and cystinuria. 53 62
11396607 2001
7
Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. 53 62
9596078 1998
8
Obligatory amino acid exchange via systems bo,+-like and y+L-like. A tertiary active transport mechanism for renal reabsorption of cystine and dibasic amino acids. 53 62
8663357 1996
9
Familial progressive renal tubulopathy. 53 62
1582058 1992
10
Clinical Features and Genetic Sequencing of Children with Fanconi-Bickel Syndrome. 62
36324017 2022
11
Outcome of Acquired Fanconi Syndrome Associated with Ingestion of Jerky Treats in 30 Dogs. 62
36428419 2022
12
Excretion of excess nitrogen and increased survival by loss of SLC6A19 in a mouse model of ornithine transcarbamylase deficiency. 62
36220785 2022
13
Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome. 62
35960161 2022
14
Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge. 62
35048353 2022
15
Cystinuria: an update on pathophysiology, genetics, and clinical management. 62
34812923 2022
16
Acute kidney injury manifesting as renal tubular acidosis with proximal and distal renal tubular dysfunction in a dog with acute pancreatitis. 62
35129879 2022
17
Aminoaciduria and metabolic dysregulation during diabetic ketoacidosis: Results from the diabetic kidney alarm (DKA) study. 62
35523653 2022
18
Fanconi syndrome in a patient receiving pre-exposure prophylaxis for HIV infection: case report. 62
35614021 2022
19
Transient Type 3 Renal Tubular Acidosis during Cyclic Vomiting Syndrome. 62
35354692 2022
20
Pediatric metanephric adenoma with Fanconi-Bickel syndrome: a case report and review of literature. 62
35511306 2022
21
BCS1L mutations produce Fanconi syndrome with developmental disability. 62
34650211 2022
22
Renal Salt-Wasting Syndrome Induced by Neoadjuvant Chemotherapy Containing Cisplatin - A Case Report. 62
35283575 2022
23
Clinical features and amino acid profiles of dogs with hepatocutaneous syndrome or hepatocutaneous-associated hepatopathy. 62
34477245 2022
24
Kidney Tubular Damage Secondary to Deferasirox: Systematic Literature Review. 62
34943300 2021
25
Knockout of the Amino Acid Transporter SLC6A19 and Autoimmune Diabetes Incidence in Female Non-Obese Diabetic (NOD) Mice. 62
34677380 2021
26
S-Methyl-L-Ergothioneine to L-Ergothioneine Ratio in Urine Is a Marker of Cystine Lithiasis in a Cystinuria Mouse Model. 62
34573056 2021
27
Bacterial Profile and asymptomatic bacteriuria among pregnant women in Africa: A systematic review and meta analysis. 62
34386744 2021
28
Phenotypic variability in distal acidification defects associated with WDR72 mutations. 62
33033857 2021
29
Acquired Fanconi Syndrome in a Patient with Nontyphoidal Salmonella Bacteremia. 62
32999244 2021
30
Clinicopathological characteristics and long-term prognosis of monoclonal immunoglobulin light chain associated Fanconi syndrome. 62
33796233 2021
31
Ifosfamide-induced nephrogenic diabetes insipidus responsive to supraphysiologic doses of intravenous desmopressin. 62
34235046 2021
32
ACE2 and gut amino acid transport. 62
33140827 2020
33
SARS-CoV-2 causes a specific dysfunction of the kidney proximal tubule. 62
32791255 2020
34
Tissue-specific deletion of mouse basolateral uniporter LAT4 (Slc43a2) reveals its crucial role in small intestine and kidney amino acid transport. 62
32841365 2020
35
A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance. 62
32504080 2020
36
Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis. 62
33134088 2020
37
Renal tubular arginase-2 participates in the formation of the corticomedullary urea gradient and attenuates kidney damage in ischemia-reperfusion injury in mice. 62
32072766 2020
38
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio. 62
31908951 2020
39
Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model. 62
31676724 2020
40
Update on clinical screening of maturity-onset diabetes of the young (MODY). 62
32528556 2020
41
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. 62
31520464 2019
42
Description of a transient proximal tubulopathy induced by amino acids perfusion in peptide receptor radionuclide therapy: A case report. 62
31876733 2019
43
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. 62
31435670 2019
44
Transient Fanconi Syndrome After Treatment with Firocoxib, Cefadroxil, Tramadol, and Famotidine in a Maltese. 62
31525093 2019
45
The impact of p53 on aristolochic acid I-induced nephrotoxicity and DNA damage in vivo and in vitro. 62
31602497 2019
46
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships. 62
30582773 2019
47
Fanconi Syndrome. 62
30454741 2019
48
Tenofovir and Severe Symptomatic Hypophosphatemia. 62
31142127 2019
49
Deferasirox - a rarer cause of Fanconi syndrome. 62
31528290 2019
50
Adult Idiopathic Renal Fanconi Syndrome: A Case Report. 62
30899310 2018

Variations for Aminoaciduria

ClinVar genetic disease variations for Aminoaciduria:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLTRN DEL Pathogenic
632559 GRCh37: X:15676482-15720880
GRCh38:
2 CLTRN DEL Pathogenic
691618 GRCh37: X:15677140-15682898
GRCh38:

Expression for Aminoaciduria

Search GEO for disease gene expression data for Aminoaciduria.

Pathways for Aminoaciduria

Pathways related to Aminoaciduria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 SLC7A9 SLC6A19 SLC5A2 SLC3A1 SLC34A1 SLC1A1
2
Show member pathways
11.87 SLC7A9 SLC6A19 SLC5A2 SLC3A1 SLC34A1 SLC1A1
3
Show member pathways
11.64 HNF4A HNF1A CLCN5
4 10.92 SLC7A9 SLC6A19 SLC5A2 SLC3A1 SLC34A1 SLC1A1
5 10.85 HNF4A HNF1A
6 10.22 HNF4A HNF1A
7
Show member pathways
9.76 SLC7A9 SLC3A1

GO Terms for Aminoaciduria

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.11 SLC7A9 SLC6A19 SLC3A1 SLC34A1 SLC1A1 CLCN5
2 plasma membrane GO:0005887 10.11 SLC7A9 SLC6A19 SLC3A1 SLC34A1 SLC1A1 CLCN5
3 apical plasma membrane GO:0016324 9.73 SLC7A9 SLC6A19 SLC5A2 SLC3A1 SLC34A1 SLC1A1
4 brush border membrane GO:0031526 9.32 SLC7A9 SLC6A19 SLC3A1 SLC34A1 CLTRN

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.72 SLC7A9 SLC6A19 SLC5A2 SLC1A1 CLCN5
2 L-glutamate transmembrane transport GO:0015813 9.67 SLC3A1 SLC1A1
3 learning or memory GO:0007611 9.65 SLC1A1 GATM B2M
4 L-cystine transport GO:0015811 9.46 SLC7A9 SLC3A1
5 renal glucose absorption GO:0035623 9.26 SLC5A2 HNF1A
6 amino acid transport GO:0006865 9.1 SLC7A9 SLC6A19 SLC3A1 SLC1A1

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

# Name GO ID Score Top Affiliating Genes
1 L-cystine transmembrane transporter activity GO:0015184 9.56 SLC7A9 SLC3A1
2 amino acid transmembrane transporter activity GO:0015171 9.55 SLC7A9 SLC6A19 SLC3A1
3 symporter activity GO:0015293 9.35 SLC6A19 SLC5A2 SLC34A1 SLC1A1
4 neutral L-amino acid transmembrane transporter activity GO:0015175 9.1 SLC7A9 SLC6A19 SLC1A1

Sources for Aminoaciduria

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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