IG
MCID: IMN001
MIFTS: 44

Iminoglycinuria (IG)

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

Aliases & Classifications for Iminoglycinuria

MalaCards integrated aliases for Iminoglycinuria:

Name: Iminoglycinuria 58 77 54 60 76 38 30 56 6 41 74
Iminoglycinuria, Digenic 58 13 6
Ig 76

Characteristics:

Orphanet epidemiological data:

60
iminoglycinuria
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal recessive
digenic recessive

Miscellaneous:
hyperglycinuria in heterozygotes


HPO:

33
iminoglycinuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

OMIM 58 242600
KEGG 38 H00905
MeSH 45 D000608
MESH via Orphanet 46 C536285
ICD10 via Orphanet 35 E72.0
UMLS via Orphanet 75 C0268654
Orphanet 60 ORPHA42062
MedGen 43 C0268654
UMLS 74 C0268654

Summaries for Iminoglycinuria

OMIM : 58 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 1, autosomal dominant. 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 intellectual disability and abnormality of the eye

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 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 top 50) (show all 645)
# Related Disease Score Top Affiliating Genes
1 hyperglycinuria 31.6 SLC36A2 SLC6A18 SLC6A19 SLC6A20
2 hyper-ige recurrent infection syndrome 1, autosomal dominant 12.7
3 hyper-ige recurrent infection syndrome 2, autosomal recessive 12.5
4 hyper ige syndrome 12.5
5 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.4
6 congenital disorder of glycosylation, type ig 12.4
7 ige responsiveness, atopic 12.3
8 hyper-ige recurrent infection syndrome 3, autosomal recessive 12.3
9 amelogenesis imperfecta, type ig 12.3
10 usher syndrome, type ig 12.1
11 selective ige deficiency disease 12.1
12 immunodeficiency 35 12.0
13 amelogenesis imperfecta hypoplastic type, ig 12.0
14 acquired monoclonal ig light chain-associated fanconi syndrome 12.0
15 epilepsy, idiopathic generalized 12.0
16 netherton syndrome 11.9
17 alg12-congenital disorder of glycosylation 11.8
18 megaloblastic anemia 1 11.8
19 immunodeficiency 23 11.7
20 immunodeficiency 11b with atopic dermatitis 11.7
21 common variable immunodeficiency 11.6
22 immunodeficiency with hyper-igm, type 1 11.5
23 asthma 11.5
24 non-immunoglobulin-mediated membranoproliferative glomerulonephritis 11.5
25 allergic asthma 11.4
26 agammaglobulinemia, x-linked 11.4
27 immunodeficiency with hyper-igm, type 4 11.4
28 nephrotic syndrome, type 7 11.3
29 dermatitis, atopic, 2 11.2
30 asthma-related traits 4 11.2
31 epilepsy, idiopathic generalized 10 11.2
32 immunodeficiency with hyper-igm, type 2 11.1
33 immunodeficiency with hyper-igm, type 5 11.1
34 peeling skin syndrome 1 11.1
35 omenn syndrome 11.1
36 asthma-related traits 1 11.1
37 asthma-related traits 2 11.1
38 asthma-related traits 5 11.1
39 asthma-related traits 7 11.1
40 immunoglobulin e concentration, serum 11.0
41 megaloblastic anemia 11.0
42 amyloidosis, hereditary, transthyretin-related 10.9
43 immunoglobulin a deficiency 1 10.9
44 immunodeficiency with hyper-igm, type 3 10.9
45 asthma-related traits 3 10.9
46 epilepsy, idiopathic generalized 13 10.9
47 asthma-related traits 6 10.9
48 leukocyte adhesion deficiency, type iii 10.9
49 peeling skin syndrome 3 10.9
50 peeling skin syndrome 5 10.9

Graphical network of the top 20 diseases related to Iminoglycinuria:



Diseases related to Iminoglycinuria

Symptoms & Phenotypes for Iminoglycinuria

Human phenotypes related to Iminoglycinuria:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 abnormality of the eye 33 HP:0000478
3 prolinuria 33 HP:0003137
4 hyperglycinuria 33 HP:0003108
5 hydroxyprolinuria 33 HP:0003080

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
prolinuria
hydroxyprolinuria
iminoglycinuria
hyperglycinuria (also present in heterozygotes)

Clinical features from OMIM:

242600

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

27 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.83 SLC6A20
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.83 SLC36A2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.83 SLC6A18 SLC6A20
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.83 SLC6A18
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.83 SLC36A2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.83 SLC36A2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.83 SLC36A2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.83 SLC36A2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.83 SLC36A2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.83 SLC36A2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.83 SLC6A18
12 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.83 SLC6A20
13 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.83 SLC6A18
14 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.83 SLC6A20
15 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.83 SLC36A2 SLC6A18
16 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.83 SLC6A20
17 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.83 SLC6A18
18 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.83 SLC36A2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.83 SLC6A18
20 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.83 SLC6A18
21 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.83 SLC36A2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.83 SLC6A20
23 Decreased human papilloma virus 16 (HPV16) pseudovirus infection GR00306-A 9.13 SLC36A1 SLC36A2 SLC6A20

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 30 SLC36A2 SLC6A19 SLC6A20

Anatomical Context for Iminoglycinuria

MalaCards organs/tissues related to Iminoglycinuria:

42
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
Atypical gyrate atrophy of the choroid and retina associated with iminoglycinuria. ( 7065959 )
1982
6
Neonatal iminoglycinuria: evidence that the prolinuria originates in selective deficiency of transport activity in the proximal nephron. ( 7110792 )
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
Cystathioninuria, renal iminoglycinuria and...alpha 1-antitrypsin...deficiency in the same family: relevance in medical practice. ( 313837 )
1979
10
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
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
Familial iminoglycinuria. An inborn error of renal tubular transport. ( 5652624 )
1968
19
Cystathioninuria and renal iminoglycinuria in a pedigree. ( 5644557 )
1968

Variations for Iminoglycinuria

UniProtKB/Swiss-Prot genetic disease variations for Iminoglycinuria:

76
# 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 NM_001003841.3(SLC6A19): c.1017-4G> A single nucleotide variant Pathogenic GRCh38 Chromosome 5, 1216785: 1216785
2 SLC6A19 NM_001003841.3(SLC6A19): c.1017-4G> A single nucleotide variant Pathogenic GRCh37 Chromosome 5, 1216900: 1216900
3 SLC36A2 NM_181776.2(SLC36A2): c.260G> T (p.Gly87Val) single nucleotide variant Pathogenic rs77010315 GRCh37 Chromosome 5, 150723155: 150723155
4 SLC36A2 NM_181776.2(SLC36A2): c.260G> T (p.Gly87Val) single nucleotide variant Pathogenic rs77010315 GRCh38 Chromosome 5, 151343594: 151343594
5 SLC36A2 SLC36A2, IVS1, G-A, +1 single nucleotide variant Pathogenic
6 SLC6A20 NM_020208.3(SLC6A20): c.596C> T (p.Thr199Met) single nucleotide variant Likely benign rs17279437 GRCh37 Chromosome 3, 45814094: 45814094
7 SLC6A20 NM_020208.3(SLC6A20): c.596C> T (p.Thr199Met) single nucleotide variant Likely benign rs17279437 GRCh38 Chromosome 3, 45772602: 45772602

Expression for Iminoglycinuria

Search GEO for disease gene expression data for Iminoglycinuria.

Pathways for Iminoglycinuria

Pathways related to Iminoglycinuria according to KEGG:

38
# 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 9.65 SLC36A1 SLC36A2 SLC6A18 SLC6A19 SLC6A20
2 plasma membrane GO:0005886 9.55 SLC36A1 SLC36A2 SLC6A18 SLC6A19 SLC6A20
3 brush border membrane GO:0031526 8.96 SLC6A18 SLC6A19
4 apical plasma membrane GO:0016324 8.8 SLC6A18 SLC6A19 SLC6A20

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.63 SLC6A18 SLC6A19 SLC6A20
2 neurotransmitter transport GO:0006836 9.58 SLC6A18 SLC6A19 SLC6A20
3 neutral amino acid transport GO:0015804 9.54 SLC36A1 SLC6A18 SLC6A19
4 glycine transport GO:0015816 9.5 SLC36A1 SLC36A2 SLC6A20
5 proton transmembrane transport GO:1902600 9.48 SLC36A1 SLC36A2
6 L-alanine transport GO:0015808 9.43 SLC36A1 SLC36A2
7 proline transport GO:0015824 9.43 SLC36A1 SLC36A2 SLC6A20
8 proline transmembrane transport GO:0035524 9.33 SLC36A1 SLC36A2 SLC6A20
9 amino acid transmembrane transport GO:0003333 9.26 SLC36A1 SLC36A2 SLC6A18 SLC6A19
10 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 symporter activity GO:0015293 9.56 SLC36A1 SLC6A18 SLC6A19 SLC6A20
2 neurotransmitter:sodium symporter activity GO:0005328 9.5 SLC6A18 SLC6A19 SLC6A20
3 proton transmembrane transporter activity GO:0015078 9.46 SLC36A1 SLC36A2
4 glycine transmembrane transporter activity GO:0015187 9.43 SLC36A1 SLC36A2
5 L-alanine transmembrane transporter activity GO:0015180 9.4 SLC36A1 SLC36A2
6 amino acid:proton symporter activity GO:0005280 9.37 SLC36A1 SLC36A2
7 neutral amino acid transmembrane transporter activity GO:0015175 9.33 SLC36A1 SLC6A18 SLC6A19
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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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