MCID: AMN006
MIFTS: 38

Aminoaciduria

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Aminoaciduria

MalaCards integrated aliases for Aminoaciduria:

Name: Aminoaciduria 52 29 54 6 71

Classifications:



External Ids:

UMLS 71 C0238621

Summaries for Aminoaciduria

MalaCards based summary : Aminoaciduria is related to dicarboxylic aminoaciduria and hartnup disorder. 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 growth/size/body region and homeostasis/metabolism

Wikipedia : 74 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 188)
# Related Disease Score Top Affiliating Genes
1 dicarboxylic aminoaciduria 34.6 SPATA6L SLC1A1
2 hartnup disorder 33.0 SLC6A19 SLC3A1 CLTRN
3 cystinuria 31.2 SLC7A9 SLC6A19 SLC3A1 CLCN5
4 fanconi syndrome 30.9 SLC5A2 SLC34A1 OCRL HNF4A EHHADH CLCN5
5 rickets 30.8 SLC34A1 OCRL CLCN5
6 hypophosphatemic rickets, x-linked recessive 30.0 SLC34A1 CLCN5
7 hypophosphatemia 30.0 SLC34A1 OCRL CLCN5
8 nephrocalcinosis 29.0 SLC3A1 SLC34A1 OCRL HNF4A CLCN5
9 gracile syndrome 12.4
10 inborn renal aminoaciduria 12.4
11 hyperdibasic aminoaciduria type 1 12.2
12 lysinuric protein intolerance 12.2
13 rowley-rosenberg syndrome 11.5
14 dibasic amino aciduria i 11.5
15 fanconi renotubular syndrome 1 11.5
16 lowe oculocerebrorenal syndrome 11.3
17 arthrogryposis, renal dysfunction, and cholestasis 1 11.1
18 galactose epimerase deficiency 11.1
19 thiamine-responsive megaloblastic anemia syndrome 11.1
20 dent disease 1 11.1
21 dent disease 2 11.1
22 fanconi renotubular syndrome 2 11.1
23 interstitial lung and liver disease 11.1
24 fanconi renotubular syndrome 3 11.1
25 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 11.1
26 muscular dystrophy 10.4
27 schizophrenia 18 10.4 SPATA6L SLC1A1
28 progressive muscular dystrophy 10.4
29 cystinosis 10.3
30 bone disease 10.2
31 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.2 SLC34A1 CLCN5
32 nephrotic syndrome 10.2
33 secondary hyperparathyroidism 10.2
34 hyperparathyroidism 10.2
35 dwarfism 10.2
36 maturity-onset diabetes of the young, type 6 10.2 HNF4A HNF1A
37 maturity-onset diabetes of the young, type 4 10.2 HNF4A HNF1A
38 maturity-onset diabetes of the young, type 2 10.2 HNF4A HNF1A
39 iminoglycinuria 10.2
40 phenylketonuria 10.2
41 ataxia and polyneuropathy, adult-onset 10.2
42 osteomalacia 10.2
43 hemosiderosis 10.2
44 kwashiorkor 10.2
45 rare hereditary hemochromatosis 10.2
46 donnai-barrow syndrome 10.1 OCRL CLCN5
47 pancreatitis, hereditary 10.1
48 renal glucosuria 10.1
49 aceruloplasminemia 10.1
50 autosomal recessive disease 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 growth/size/body region MP:0005378 9.93 B2M BCS1L CLCN5 CLTRN EHHADH HNF1A
2 homeostasis/metabolism MP:0005376 9.86 ABCB6 B2M BCS1L CLCN5 CLTRN EHHADH
3 adipose tissue MP:0005375 9.73 CLTRN HNF1A SLC1A1 SLC3A1 SLC5A2 SLC6A19
4 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:

40
Kidney, Bone, Liver, Skin, Testes, Bone Marrow, Brain

Publications for Aminoaciduria

Articles related to Aminoaciduria:

(show top 50) (show all 787)
# Title Authors PMID Year
1
The serum and glucocorticoid inducible kinases SGK1-3 stimulate the neutral amino acid transporter SLC6A19. 54 61
20511718 2010
2
Persistence of the common Hartnup disease D173N allele in populations of European origin. 54 61
17555458 2007
3
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. 54 61
15610225 2005
4
Serum amino acids in patients with mutations in the hepatocyte nuclear factor-1 alpha gene. 54 61
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. 54 61
11522670 2001
6
The amino acid transport system b(o,+) and cystinuria. 54 61
11396607 2001
7
Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. 54 61
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. 54 61
8663357 1996
9
Familial progressive renal tubulopathy. 54 61
1582058 1992
10
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio. 61
31908951 2020
11
Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model. 61
31676724 2020
12
Description of a transient proximal tubulopathy induced by amino acids perfusion in peptide receptor radionuclide therapy: A case report. 61
31876733 2019
13
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. 61
31520464 2019
14
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. 61
31435670 2019
15
Transient Fanconi Syndrome After Treatment with Firocoxib, Cefadroxil, Tramadol, and Famotidine in a Maltese. 61
31525093 2019
16
The impact of p53 on aristolochic acid I-induced nephrotoxicity and DNA damage in vivo and in vitro. 61
31602497 2019
17
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships. 61
30582773 2019
18
Fanconi Syndrome. 61
30454741 2019
19
Deferasirox - a rarer cause of Fanconi syndrome. 61
31528290 2019
20
Tenofovir and Severe Symptomatic Hypophosphatemia. 61
31142127 2019
21
Amino Acid Transport Across the Mammalian Intestine. 61
30549024 2018
22
Adult Idiopathic Renal Fanconi Syndrome: A Case Report. 61
30899310 2018
23
TINU-associated Fanconi syndrome: a case report and review of literature. 61
30340545 2018
24
Legionella Pneumonia Complicated with Acquired Fanconi Syndrome. 61
29877286 2018
25
Acquired Fanconi syndrome secondary to light chain deposition disease associated with monoclonal gammopathy of renal significance: A case report. 61
30200082 2018
26
Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids. 61
29610403 2018
27
Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects. 61
29116606 2018
28
Glucosuria without diabetes: key to the diagnosis of fragility fractures due to Fanconi syndrome. 61
29735496 2018
29
Fanconi Syndrome in Irish Wolfhound Siblings. 61
29558216 2018
30
Acute Lymphoblastic Leukemia Presenting as Fanconi Syndrome. 61
29515412 2018
31
Downregulation of SLC7A7 Triggers an Inflammatory Phenotype in Human Macrophages and Airway Epithelial Cells. 61
29616026 2018
32
Congenital unruptured aneurysm of sinus of Valsalva, quadricuspid aortic valve, and ascending aortic aneurysm associated with genetic leukoencephalopathy in an infant: A new syndrome? 61
28994146 2017
33
New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance. 61
29058386 2017
34
CYSTINURIA: Crystals that Make a Baby Cry. 61
28811699 2017
35
Characterization of aminoaciduria and hypoaminoacidemia in dogs with hepatocutaneous syndrome. 61
28541155 2017
36
Successful treatment with glucocorticoid for secondary Fanconi syndrome caused by sarcoidosis. 61
25698227 2017
37
Acquired Fanconi syndrome in two dogs following long-term consumption of pet jerky treats in Japan: case report. 61
28381666 2017
38
Renal manifestations of primary mitochondrial disorders. 61
28515908 2017
39
Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron. 61
27799484 2017
40
Aminoaciduria Caused by Fanconi Syndrome in a Heifer. 61
28109116 2017
41
Amino Acid (Leucine) Chromatography: A Study of Branched-Chain Aminoaciduria in Type 2 Diabetes. 61
28413737 2017
42
Current anti-myeloma therapies in renal manifestations of monoclonal light chain-associated Fanconi syndrome: a retrospective series of 49 patients. 61
27435002 2017
43
Glomerular and Tubular Renal Function after Repeated Once-Daily Tobramycin Courses in Cystic Fibrosis Patients. 61
28133546 2017
44
Other organ involvement and clinical aspects of Wilson disease. 61
28433099 2017
45
Gonadotrophin abnormalities in an infant with Lowe syndrome. 61
28469921 2017
46
mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells. 61
27297946 2017
47
Acquired Fanconi syndrome in four cats treated with chlorambucil. 61
26170278 2016
48
Phenotype of Dent Disease in a Cohort of Indian Children. 61
27889724 2016
49
Unusual association between lysinuric protein intolerance and moyamoya vasculopathy. 61
27321952 2016
50
Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI). 61
27506743 2016

Variations for Aminoaciduria

ClinVar genetic disease variations for Aminoaciduria:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLTRN deletion Pathogenic 632559 X:15676482-15720880
2 CLTRN deletion Pathogenic 691618 X:15677140-15682898

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 endosome GO:0005768 9.65 SLC34A1 SLC1A1 OCRL CLCN5 ABCB6
2 extracellular exosome GO:0070062 9.61 SLC6A19 SLC5A2 SLC3A1 SLC1A1 MPST MARS1
3 early endosome membrane GO:0031901 9.54 SLC1A1 OCRL B2M
4 apical plasma membrane GO:0016324 9.46 SLC7A9 SLC6A19 SLC34A1 SLC1A1
5 vacuolar membrane GO:0005774 9.32 SLC3A1 ABCB6
6 brush border membrane GO:0031526 8.92 SLC7A9 SLC6A19 SLC3A1 SLC34A1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.63 SLC7A9 SLC6A19 SLC5A2 SLC1A1 CLCN5 ABCB6
2 neutral amino acid transport GO:0015804 9.26 SLC7A9 SLC6A19
3 L-cystine transport GO:0015811 8.96 SLC7A9 SLC3A1
4 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 L-cystine transmembrane transporter activity GO:0015184 9.16 SLC7A9 SLC3A1
3 amino acid transmembrane transporter activity GO:0015171 9.13 SLC7A9 SLC6A19 SLC3A1
4 symporter activity GO:0015293 8.92 SLC6A19 SLC5A2 SLC34A1 SLC1A1

Sources for Aminoaciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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