MCID: AMN006
MIFTS: 39

Aminoaciduria

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Aminoaciduria

MalaCards integrated aliases for Aminoaciduria:

Name: Aminoaciduria 53 29 55 6 72

Classifications:



External Ids:

UMLS 72 C0238621

Summaries for Aminoaciduria

MalaCards based summary : Aminoaciduria is related to dicarboxylic aminoaciduria and fanconi syndrome. An important gene associated with Aminoaciduria is CLTRN (Collectrin, Amino Acid Transport Regulator), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Hepatic ABC Transporters. The drugs Hydrochlorothiazide and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and liver, and related phenotypes are homeostasis/metabolism and growth/size/body region

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 185)
# Related Disease Score Top Affiliating Genes
1 dicarboxylic aminoaciduria 35.1 SPATA6L SLC1A1
2 fanconi syndrome 31.9 SLC34A1 OCRL HNF4A EHHADH CLCN5
3 dent disease 1 31.7 OCRL CLCN5
4 nephrocalcinosis 30.2 SLC34A1 OCRL CLCN5
5 inborn renal aminoaciduria 12.4
6 gracile syndrome 12.3
7 lysinuric protein intolerance 12.2
8 hartnup disorder 12.2
9 dibasic amino aciduria i 11.7
10 rowley-rosenberg syndrome 11.5
11 cystinuria 11.5
12 fanconi renotubular syndrome 1 11.5
13 lowe oculocerebrorenal syndrome 11.3
14 arthrogryposis, renal dysfunction, and cholestasis 1 11.1
15 galactose epimerase deficiency 11.1
16 thiamine-responsive megaloblastic anemia syndrome 11.1
17 dent disease 2 11.1
18 fanconi renotubular syndrome 2 11.1
19 interstitial lung and liver disease 11.1
20 fanconi renotubular syndrome 3 11.1
21 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 11.1
22 primary fanconi syndrome 10.5 SLC34A1 EHHADH
23 muscular dystrophy 10.4
24 rickets 10.4
25 maturity-onset diabetes of the young, type 4 10.4 HNF4A HNF1A
26 progressive muscular dystrophy 10.3
27 maturity-onset diabetes of the young, type 2 10.3 HNF4A HNF1A
28 cystinosis 10.3
29 bone disease 10.2
30 maturity-onset diabetes of the young, type 3 10.2 HNF4A HNF1A
31 nephrotic syndrome 10.2
32 secondary hyperparathyroidism 10.2
33 hyperparathyroidism 10.2
34 dwarfism 10.2
35 renal tubular transport disease 10.2 OCRL CLCN5
36 iminoglycinuria 10.1
37 phenylketonuria 10.1
38 ataxia and polyneuropathy, adult-onset 10.1
39 osteomalacia 10.1
40 hemosiderosis 10.1
41 kwashiorkor 10.1
42 epilepsy 10.1
43 rare hereditary hemochromatosis 10.1
44 maturity-onset diabetes of the young, type 13 10.1 HNF4A HNF1A
45 pancreatitis, hereditary 10.1
46 renal glucosuria 10.1
47 aceruloplasminemia 10.1
48 autosomal recessive disease 10.1
49 cholestasis 10.1
50 renal tubular acidosis 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 ABCB6 B2M BCS1L CLCN5 CLTRN EHHADH
2 growth/size/body region MP:0005378 10.03 B2M BCS1L CLCN5 CLTRN EHHADH HNF1A
3 adipose tissue MP:0005375 9.8 CLTRN HNF1A SLC1A1 SLC3A1 SLC5A2 SLC6A19
4 liver/biliary system MP:0005370 9.43 B2M BCS1L CLCN5 EHHADH HNF1A HNF4A
5 renal/urinary system MP:0005367 9.36 BCS1L CLCN5 CLTRN HNF1A OCRL SLC1A1

Drugs & Therapeutics for Aminoaciduria

Drugs for Aminoaciduria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3 58-93-5 3639
2 Antihypertensive Agents Phase 2, Phase 3
3 Natriuretic Agents Phase 2, Phase 3
4 Sodium Chloride Symporter Inhibitors Phase 2, Phase 3
5 diuretics Phase 2, Phase 3
6
carbamide peroxide Approved 124-43-6
7
Penicillamine Approved 52-67-5 5852 4727
8
Calcium Approved, Nutraceutical 7440-70-2 271
9 Calcium, Dietary

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pharmacodynamic Evaluation of the ANTICALCIURIC Effect of Hydrochlorothiazide in Dent's Disease Terminated NCT00638482 Phase 2, Phase 3 Hydrochlorothiazide
2 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH) Unknown status NCT03268460
3 Cystine Capacity Clinical Study (CysCap) Completed NCT02120105

Search NIH Clinical Center for Aminoaciduria

Genetic Tests for Aminoaciduria

Genetic tests related to Aminoaciduria:

# Genetic test Affiliating Genes
1 Aminoaciduria 29

Anatomical Context for Aminoaciduria

MalaCards organs/tissues related to Aminoaciduria:

41
Kidney, Bone, Liver, Testes, Skin, Brain, Bone Marrow

Publications for Aminoaciduria

Articles related to Aminoaciduria:

(show top 50) (show all 780)
# Title Authors PMID Year
1
The serum and glucocorticoid inducible kinases SGK1-3 stimulate the neutral amino acid transporter SLC6A19. 9 38
20511718 2010
2
Persistence of the common Hartnup disease D173N allele in populations of European origin. 9 38
17555458 2007
3
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. 9 38
15610225 2005
4
Serum amino acids in patients with mutations in the hepatocyte nuclear factor-1 alpha gene. 9 38
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. 9 38
11522670 2001
6
The amino acid transport system b(o,+) and cystinuria. 9 38
11396607 2001
7
Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. 9 38
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. 9 38
8663357 1996
9
Familial progressive renal tubulopathy. 9 38
1582058 1992
10
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. 38
31435670 2019
11
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships. 38
30582773 2019
12
Fanconi Syndrome. 38
30454741 2019
13
Tenofovir and Severe Symptomatic Hypophosphatemia. 38
31142127 2019
14
Amino Acid Transport Across the Mammalian Intestine. 38
30549024 2018
15
Adult Idiopathic Renal Fanconi Syndrome: A Case Report. 38
30899310 2018
16
Legionella Pneumonia Complicated with Acquired Fanconi Syndrome. 38
29877286 2018
17
TINU-associated Fanconi syndrome: a case report and review of literature. 38
30340545 2018
18
Acquired Fanconi syndrome secondary to light chain deposition disease associated with monoclonal gammopathy of renal significance: A case report. 38
30200082 2018
19
Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids. 38
29610403 2018
20
Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects. 38
29116606 2018
21
Fanconi Syndrome in Irish Wolfhound Siblings. 38
29558216 2018
22
Glucosuria without diabetes: key to the diagnosis of fragility fractures due to Fanconi syndrome. 38
29735496 2018
23
Acute Lymphoblastic Leukemia Presenting as Fanconi Syndrome. 38
29515412 2018
24
Downregulation of SLC7A7 Triggers an Inflammatory Phenotype in Human Macrophages and Airway Epithelial Cells. 38
29616026 2018
25
Congenital unruptured aneurysm of sinus of Valsalva, quadricuspid aortic valve, and ascending aortic aneurysm associated with genetic leukoencephalopathy in an infant: A new syndrome? 38
28994146 2017
26
New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance. 38
29058386 2017
27
CYSTINURIA: Crystals that Make a Baby Cry. 38
28811699 2017
28
Characterization of aminoaciduria and hypoaminoacidemia in dogs with hepatocutaneous syndrome. 38
28541155 2017
29
Successful treatment with glucocorticoid for secondary Fanconi syndrome caused by sarcoidosis. 38
25698227 2017
30
Acquired Fanconi syndrome in two dogs following long-term consumption of pet jerky treats in Japan: case report. 38
28381666 2017
31
Renal manifestations of primary mitochondrial disorders. 38
28515908 2017
32
Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron. 38
27799484 2017
33
Aminoaciduria Caused by Fanconi Syndrome in a Heifer. 38
28109116 2017
34
Amino Acid (Leucine) Chromatography: A Study of Branched-Chain Aminoaciduria in Type 2 Diabetes. 38
28413737 2017
35
Current anti-myeloma therapies in renal manifestations of monoclonal light chain-associated Fanconi syndrome: a retrospective series of 49 patients. 38
27435002 2017
36
Glomerular and Tubular Renal Function after Repeated Once-Daily Tobramycin Courses in Cystic Fibrosis Patients. 38
28133546 2017
37
Other organ involvement and clinical aspects of Wilson disease. 38
28433099 2017
38
Gonadotrophin abnormalities in an infant with Lowe syndrome. 38
28469921 2017
39
mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells. 38
27297946 2017
40
Acquired Fanconi syndrome in four cats treated with chlorambucil. 38
26170278 2016
41
Phenotype of Dent Disease in a Cohort of Indian Children. 38
27889724 2016
42
Unusual association between lysinuric protein intolerance and moyamoya vasculopathy. 38
27321952 2016
43
Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI). 38
27506743 2016
44
A Rare Case of Acquired Fanconi's Syndrome With Monoclonal Gammopathy in an Infant. 38
26511199 2016
45
Electrolyte disorders associated with the use of anticancer drugs. 38
26939882 2016
46
Constipation as an Atypical Sign of ARC Syndrome - Case Report. 38
30568833 2016
47
[A case of renal Fanconi syndrome due to Bence Jones' protein K-type multiple myeloma]. 38
30620818 2016
48
Interactions of vitamin D and the proximal tubule. 38
25618772 2016
49
Aminoaciduria in the prediction of ifosfamide-induced tubulopathy after childhood cancer: a feasibility study. 38
27965825 2016
50
Acquired Fanconi syndrome in a dog exposed to jerky treats in Japan. 38
26062568 2015

Variations for Aminoaciduria

ClinVar genetic disease variations for Aminoaciduria:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CLTRN deletion Pathogenic X:15676482-15720880 :0-0

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
12.69 SLC7A9 SLC6A19 SLC5A2 SLC3A1 SLC34A1 SLC1A1
2
Show member pathways
11.53 HNF4A HNF1A CLCN5
3
Show member pathways
10.32 SLC7A9 SLC6A19 SLC3A1
4 10.06 HNF4A HNF1A

GO Terms for Aminoaciduria

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.76 SLC6A19 SLC5A2 SLC3A1 SLC1A1 MPST CLTRN
2 apical plasma membrane GO:0016324 9.26 SLC7A9 SLC6A19 SLC34A1 SLC1A1
3 brush border membrane GO:0031526 8.92 SLC7A9 SLC6A19 SLC3A1 SLC34A1
4 plasma membrane GO:0005886 10 SLC7A9 SLC6A19 SLC5A2 SLC3A1 SLC34A1 SLC1A1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.43 SLC7A9 SLC6A19 SLC5A2 SLC1A1 CLCN5 ABCB6
2 response to cadmium ion GO:0046686 9.37 SLC34A1 B2M
3 neutral amino acid transport GO:0015804 9.26 SLC7A9 SLC6A19
4 L-cystine transport GO:0015811 9.16 SLC7A9 SLC3A1
5 L-alpha-amino acid transmembrane transport GO:1902475 9.02 SLC7A9
6 amino acid transport GO:0006865 8.92 SLC7A9 SLC6A19 SLC3A1 SLC1A1

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

# Name GO ID Score Top Affiliating Genes
1 neutral amino acid transmembrane transporter activity GO:0015175 9.26 SLC7A9 SLC6A19
2 symporter activity GO:0015293 9.26 SLC6A19 SLC5A2 SLC34A1 SLC1A1
3 L-cystine transmembrane transporter activity GO:0015184 9.16 SLC7A9 SLC3A1
4 amino acid transmembrane transporter activity GO:0015171 8.8 SLC7A9 SLC6A19 SLC3A1

Sources for Aminoaciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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