MCID: IMN001
MIFTS: 41

Iminoglycinuria

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Iminoglycinuria

MalaCards integrated aliases for Iminoglycinuria:

Name: Iminoglycinuria 53 72 49 55 71 36 28 51 69
Iminoglycinuria, Digenic 53 13
Ig 71

Characteristics:

Orphanet epidemiological data:

55
iminoglycinuria
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal recessive
digenic recessive

Miscellaneous:
hyperglycinuria in heterozygotes


HPO:

31
iminoglycinuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Inborn errors of metabolism


External Ids:

OMIM 53 242600
Orphanet 55 ORPHA42062
MESH via Orphanet 42 C536285
UMLS via Orphanet 70 C0268654
ICD10 via Orphanet 33 E72.0
MedGen 39 C0268654
MeSH 41 D000608
KEGG 36 H00905
UMLS 69 C0268654

Summaries for Iminoglycinuria

OMIM : 53 The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG; 138500) (summary by Broer et al., 2008). Iminoglycinuria may be more frequent in Ashkenazim than in others (Tancredi et al., 1970). Iminoglycinuria also occurs as part of the generalized amino aciduria of the Fanconi renotubular syndrome (134600). (242600)

MalaCards based summary : Iminoglycinuria, also known as iminoglycinuria, digenic, is related to hyperglycinuria and hyper-ige recurrent infection syndrome, autosomal dominant, and has symptoms including abnormality of the eye, intellectual disability and hydroxyprolinuria. An important gene associated with Iminoglycinuria is SLC36A2 (Solute Carrier Family 36 Member 2), and among its related pathways/superpathways are Protein digestion and absorption and Mineral absorption. Affiliated tissues include eye, retina and kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 71 Iminoglycinuria: A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine.

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 42062Disease definitionIminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessivetrait.Visit the Orphanet disease page for more resources. Last updated: 6/23/2006

Wikipedia : 72 Iminoglycinuria, sometimes called familial iminoglycinuria, is an autosomal recessivedisorder of renal... more...

Related Diseases for Iminoglycinuria

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 hyperglycinuria 30.9 SLC36A2 SLC6A18 SLC6A19 SLC6A20
2 hyper-ige recurrent infection syndrome, autosomal dominant 12.5
3 hyper ige syndrome 12.3
4 hyper-ige recurrent infection syndrome, autosomal recessive 12.3
5 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.2
6 congenital disorder of glycosylation, type ig 12.2
7 ige responsiveness, atopic 12.1
8 amelogenesis imperfecta, type ig 12.1
9 usher syndrome, type ig 11.9
10 selective ige deficiency disease 11.9
11 immunodeficiency 35 11.9
12 amelogenesis imperfecta hypoplastic type, ig 11.8
13 acquired monoclonal ig light chain-associated fanconi syndrome 11.8
14 epilepsy, idiopathic generalized 11.8
15 netherton syndrome 11.8
16 alg12-congenital disorder of glycosylation 11.6
17 megaloblastic anemia 1 11.6
18 immunodeficiency 23 11.5
19 immunodeficiency 11b with atopic dermatitis 11.5
20 common variable immunodeficiency 11.4
21 immunodeficiency with hyper-igm, type 1 11.3
22 asthma 11.3
23 non-immunoglobulin-mediated membranoproliferative glomerulonephritis 11.3
24 cd40 ligand deficiency 11.2
25 agammaglobulinemia, x-linked 11.2
26 immunodeficiency with hyper-igm, type 4 11.2
27 allergic asthma 11.2
28 dermatitis, atopic, 2 11.1
29 asthma-related traits 4 11.1
30 epilepsy, idiopathic generalized 10 11.1
31 immunodeficiency with hyper-igm, type 2 11.0
32 immunodeficiency with hyper-igm, type 5 11.0
33 nephrotic syndrome, type 7 11.0
34 omenn syndrome 10.9
35 cystathioninuria 10.0
36 gyrate atrophy of choroid and retina 10.0
37 choroiditis 10.0
38 aminoaciduria 10.0
39 alpha-1-antitrypsin deficiency 9.9
40 cerebritis 9.9
41 hartnup disorder 8.9 SLC6A18 SLC6A19 SLC6A20

Graphical network of the top 20 diseases related to Iminoglycinuria:



Diseases related to Iminoglycinuria

Symptoms & Phenotypes for Iminoglycinuria

Symptoms via clinical synopsis from OMIM:

53
Laboratory Abnormalities:
iminoglycinuria
hydroxyprolinuria
prolinuria
hyperglycinuria (also present in heterozygotes)


Clinical features from OMIM:

242600

Human phenotypes related to Iminoglycinuria:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 31 HP:0000478
2 intellectual disability 31 HP:0001249
3 hydroxyprolinuria 31 HP:0003080
4 hyperglycinuria 31 HP:0003108
5 prolinuria 31 HP:0003137

GenomeRNAi Phenotypes related to Iminoglycinuria according to GeneCards Suite gene sharing:

25 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.47 SLC6A20
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.47 SLC6A18 SLC6A20
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.47 SLC6A18
4 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.47 SLC6A18
5 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.47 SLC6A20
6 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.47 SLC6A18
7 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.47 SLC6A20
8 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.47 SLC6A18
9 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.47 SLC6A20
10 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.47 SLC6A18
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.47 SLC6A18
12 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.47 SLC6A18
13 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.47 SLC6A20
14 Decreased human papilloma virus 16 (HPV16) pseudovirus infection GR00306-A 9.13 SLC36A2 SLC6A20 SLC36A1

Drugs & Therapeutics for Iminoglycinuria

Search Clinical Trials , NIH Clinical Center for Iminoglycinuria

Genetic Tests for Iminoglycinuria

Genetic tests related to Iminoglycinuria:

# Genetic test Affiliating Genes
1 Iminoglycinuria 28 SLC36A2 SLC6A19 SLC6A20

Anatomical Context for Iminoglycinuria

MalaCards organs/tissues related to Iminoglycinuria:

38
Eye, Retina, Kidney

Publications for Iminoglycinuria

Articles related to Iminoglycinuria:

(show all 19)
# Title Authors Year
1
Renal imino acid and glycine transport system ontogeny and involvement in developmental iminoglycinuria. ( 20377526 )
2010
2
Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20). ( 19657969 )
2009
3
Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. ( 19033659 )
2008
4
Iminoglycinuria: a benign type of inherited aminoaciduria. ( 7504361 )
1993
5
Neonatal iminoglycinuria: evidence that the prolinuria originates in selective deficiency of transport activity in the proximal nephron. ( 7110792 )
1982
6
Atypical gyrate atrophy of the choroid and retina associated with iminoglycinuria. ( 7065959 )
1982
7
Atypical gyrate atrophy of the choroid and retina and iminoglycinuria. ( 7314117 )
1981
8
Combined iminoglycinuria and cystine- and dibasic aminoaciduria in patients with propionic acidaemia and 3-methylcrotonylglycinuria. ( 6775144 )
1980
9
Ontogeny of amino acid reabsorption in human kidney. Evidence from the homozygous infant with familial renal iminoglycinuria for multiple proline and glycine systems. ( 432003 )
1979
10
Cystathioninuria, renal iminoglycinuria and...alpha 1-antitrypsin...deficiency in the same family: relevance in medical practice. ( 313837 )
1979
11
A new type of heterozygote of familial renal iminoglycinuria. ( 732833 )
1978
12
Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids in association with profound mental retardation, a possible "cerebral phenotype". ( 955941 )
1976
13
Proceedings: Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids. ( 1205812 )
1975
14
Iminoglycinuria in a child in Czechoslovakia. ( 4744406 )
1973
15
Iminoglycinuria. A defect of renal tubular transport. ( 5042951 )
1972
16
Renal iminoglycinuria without intestinal malabsorption of glycine and imino acids. ( 5308714 )
1970
17
Iminoglycinuria--a "harmless" inborn error of metabolism? ( 5713621 )
1968
18
Cystathioninuria and renal iminoglycinuria in a pedigree. ( 5644557 )
1968
19
Familial iminoglycinuria. An inborn error of renal tubular transport. ( 5652624 )
1968

Variations for Iminoglycinuria

UniProtKB/Swiss-Prot genetic disease variations for Iminoglycinuria:

71
# Symbol AA change Variation ID SNP ID
1 SLC36A2 p.Gly87Val VAR_064795 rs77010315

ClinVar genetic disease variations for Iminoglycinuria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC6A19 SLC6A19, IVS7, G-A, -4 single nucleotide variant Pathogenic
2 SLC36A2 NM_181776.2(SLC36A2): c.260G> T (p.Gly87Val) single nucleotide variant Pathogenic rs77010315 GRCh37 Chromosome 5, 150723155: 150723155
3 SLC36A2 SLC36A2, IVS1, G-A, +1 single nucleotide variant Pathogenic

Expression for Iminoglycinuria

Search GEO for disease gene expression data for Iminoglycinuria.

Pathways for Iminoglycinuria

Pathways related to Iminoglycinuria according to KEGG:

36
# Name Kegg Source Accession
1 Protein digestion and absorption hsa04974
2 Mineral absorption hsa04978

GO Terms for Iminoglycinuria

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.55 SLC36A1 SLC36A2 SLC6A18 SLC6A19 SLC6A20
2 plasma membrane GO:0005886 9.35 SLC36A1 SLC36A2 SLC6A18 SLC6A19 SLC6A20
3 brush border membrane GO:0031526 8.62 SLC6A18 SLC6A19

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.8 SLC36A1 SLC36A2 SLC6A18 SLC6A19 SLC6A20
2 transmembrane transport GO:0055085 9.73 SLC36A1 SLC6A18 SLC6A19 SLC6A20
3 hydrogen ion transmembrane transport GO:1902600 9.51 SLC36A1 SLC36A2
4 neurotransmitter transport GO:0006836 9.5 SLC6A18 SLC6A19 SLC6A20
5 proton transport GO:0015992 9.49 SLC36A1 SLC36A2
6 amino acid transmembrane transport GO:0003333 9.48 SLC6A18 SLC6A19
7 neutral amino acid transport GO:0015804 9.46 SLC36A1 SLC6A19
8 glycine transport GO:0015816 9.43 SLC36A1 SLC36A2 SLC6A20
9 L-alanine transport GO:0015808 9.37 SLC36A1 SLC36A2
10 proline transport GO:0015824 9.33 SLC36A1 SLC36A2 SLC6A20
11 proline transmembrane transport GO:0035524 9.13 SLC36A1 SLC36A2 SLC6A20
12 amino acid transport GO:0006865 9.02 SLC36A1 SLC36A2 SLC6A18 SLC6A19 SLC6A20

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

# Name GO ID Score Top Affiliating Genes
1 hydrogen ion transmembrane transporter activity GO:0015078 9.46 SLC36A1 SLC36A2
2 symporter activity GO:0015293 9.46 SLC36A1 SLC6A18 SLC6A19 SLC6A20
3 neutral amino acid transmembrane transporter activity GO:0015175 9.43 SLC36A1 SLC6A19
4 neurotransmitter:sodium symporter activity GO:0005328 9.43 SLC6A18 SLC6A19 SLC6A20
5 glycine transmembrane transporter activity GO:0015187 9.4 SLC36A1 SLC36A2
6 L-alanine transmembrane transporter activity GO:0015180 9.37 SLC36A1 SLC36A2
7 hydrogen:amino acid symporter activity GO:0005280 9.32 SLC36A1 SLC36A2
8 L-proline transmembrane transporter activity GO:0015193 9.13 SLC36A1 SLC36A2 SLC6A20
9 amino acid transmembrane transporter activity GO:0015171 9.02 SLC36A1 SLC36A2 SLC6A18 SLC6A19 SLC6A20

Sources for Iminoglycinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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