IG
MCID: IMN001
MIFTS: 45

Iminoglycinuria (IG)

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

Aliases & Classifications for Iminoglycinuria

MalaCards integrated aliases for Iminoglycinuria:

Name: Iminoglycinuria 57 75 53 59 74 37 29 55 6 40 72
Iminoglycinuria, Digenic 57 13 6
Ig 74

Characteristics:

Orphanet epidemiological data:

59
iminoglycinuria
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive
digenic recessive

Miscellaneous:
hyperglycinuria in heterozygotes


HPO:

32
iminoglycinuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 242600
KEGG 37 H00905
MeSH 44 D000608
MESH via Orphanet 45 C536285
ICD10 via Orphanet 34 E72.0
UMLS via Orphanet 73 C0268654
Orphanet 59 ORPHA42062
MedGen 42 C0268654
UMLS 72 C0268654

Summaries for Iminoglycinuria

OMIM : 57 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, kidney and retina, and related phenotypes are intellectual disability and abnormality of the eye

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 42062DefinitionIminoglycinuria 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 recessive trait.Visit the Orphanet disease page for more resources.

KEGG : 37
Iminoglycinuria is a benign condition characterized by the excretion of proline, hydroxyproline, and glycine in the urine. The disorder is of autosomal recessive inheritance and is genetically complex. Inactivation or reduced function of SLC36A2 (PAT-2) is the predominant determinant of the iminoglycinuria phenotype in humans. Mutations in SLC6A20 (SIT-1) and SLC6A19 (B0AT1) could also be the cause.

UniProtKB/Swiss-Prot : 74 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 : 75 Iminoglycinuria, is an autosomal recessive disorder of renal tubular transport affecting reabsorption of... more...

Related Diseases for Iminoglycinuria

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

(show top 50) (show all 1194)
# Related Disease Score Top Affiliating Genes
1 hyperglycinuria 30.9 SLC6A20 SLC6A19 SLC6A18 SLC36A2
2 hyper-ige recurrent infection syndrome 1, autosomal dominant 12.8
3 hyper ige syndrome 12.8
4 hyper-ige recurrent infection syndrome 2, autosomal recessive 12.7
5 congenital disorder of glycosylation, type ig 12.7
6 hyper-ige recurrent infection syndrome 3, autosomal recessive 12.6
7 hyper-ige recurrent infection syndrome 4, autosomal recessive 12.5
8 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.5
9 ige responsiveness, atopic 12.5
10 hyper ige recurrent infection syndrome 1 12.4
11 amelogenesis imperfecta, type ig 12.4
12 selective ige deficiency disease 12.4
13 obsolete: autosomal recessive hyper-ige syndrome 12.3
14 usher syndrome, type ig 12.2
15 immunodeficiency 35 12.2
16 amelogenesis imperfecta hypoplastic type, ig 12.1
17 acquired monoclonal ig light chain-associated fanconi syndrome 12.1
18 epilepsy, idiopathic generalized 12.1
19 netherton syndrome 12.1
20 immunodeficiency 23 12.0
21 dock8 immunodeficiency syndrome 12.0
22 megaloblastic anemia 1 11.9
23 immunodeficiency 11b with atopic dermatitis 11.8
24 common variable immunodeficiency 11.8
25 asthma 11.8
26 agammaglobulinemia 11.7
27 immunodeficiency with hyper-igm, type 1 11.7
28 immunoglobulin e concentration, serum 11.6
29 allergic asthma 11.6
30 allergic rhinitis 11.6
31 immunodeficiency with hyper-igm, type 2 11.6
32 c3 glomerulopathy 11.6
33 agammaglobulinemia, x-linked 11.5
34 asthma-related traits 1 11.5
35 asthma-related traits 2 11.5
36 omenn syndrome 11.5
37 immunodeficiency with hyper-igm, type 4 11.5
38 asthma-related traits 4 11.4
39 nephrotic syndrome, type 7 11.4
40 dermatitis herpetiformis 11.4
41 anemia, autoimmune hemolytic 11.4
42 immunoglobulin a deficiency 1 11.3
43 lymphoplasmacytic lymphoma 11.3
44 amyloidosis, hereditary, transthyretin-related 11.3
45 masa syndrome 11.3
46 immunodeficiency with hyper-igm, type 3 11.3
47 immunodeficiency with hyper-igm, type 5 11.3
48 peeling skin syndrome 1 11.2
49 kagami-ogata syndrome 11.2
50 asthma-related traits 5 11.2

Graphical network of the top 20 diseases related to Iminoglycinuria:



Diseases related to Iminoglycinuria

Symptoms & Phenotypes for Iminoglycinuria

Human phenotypes related to Iminoglycinuria:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 abnormality of the eye 32 HP:0000478
3 prolinuria 32 HP:0003137
4 hyperglycinuria 32 HP:0003108
5 hydroxyprolinuria 32 HP:0003080

Symptoms via clinical synopsis from OMIM:

57
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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human papilloma virus 16 (HPV16) pseudovirus infection GR00306-A 8.8 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 29 SLC36A2 SLC6A19 SLC6A20

Anatomical Context for Iminoglycinuria

MalaCards organs/tissues related to Iminoglycinuria:

41
Eye, Kidney, Retina, Skin, Cortex

Publications for Iminoglycinuria

Articles related to Iminoglycinuria:

(show all 46)
# Title Authors PMID Year
1
Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. 38 8 71
19033659 2008
2
Atypical gyrate atrophy of the choroid and retina and iminoglycinuria. 38 8
7314117 1981
3
Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids in association with profound mental retardation, a possible "cerebral phenotype". 38 8
955941 1976
4
Renal iminoglycinuria without intestinal malabsorption of glycine and imino acids. 38 8
5308714 1970
5
Familial iminoglycinuria. An inborn error of renal tubular transport. 38 8
5652624 1968
6
Cystathioninuria and renal iminoglycinuria in a pedigree. 38 8
5644557 1968
7
Iminoaciduria: a benign renal tubular defect. 8
5567964 1971
8
Renal tubular transport of proline, hydroxyproline, and glycine. 3. Genetic basis for more than one mode of transport in human kidney. 8
5641621 1968
9
Impaired intestinal transport of proline in a patient with familial iminoaciduria. 8
6029472 1967
10
Prolinuria: a new renal tubular defect in transport of proline and glycine. 8
5864167 1965
11
Isolation and function of the amino acid transporter PAT1 (slc36a1) from rabbit and discrimination between transport via PAT1 and system IMINO in renal brush-border membrane vesicles. 9 38
16373326 2005
12
Amino Acid Transport Across the Mammalian Intestine. 38
30549024 2018
13
Intestinal IMINO transporter SIT1 is not expressed in human newborns. 38
30160974 2018
14
Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors. 38
25534429 2015
15
Diseases associated with general amino acid transporters of the solute carrier 6 family (SLC6). 38
23876153 2013
16
The SLC36 family of proton-coupled amino acid transporters and their potential role in drug transport. 38
21501141 2011
17
A genome-wide association study of metabolic traits in human urine. 38
21572414 2011
18
Renal imino acid and glycine transport system ontogeny and involvement in developmental iminoglycinuria. 38
20377526 2010
19
Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20). 38
19657969 2009
20
Apical transporters for neutral amino acids: physiology and pathophysiology. 38
18400692 2008
21
Aminoacidurias: Clinical and molecular aspects. 38
18200002 2008
22
Amino acid transport across mammalian intestinal and renal epithelia. 38
18195088 2008
23
The molecular basis of neutral aminoacidurias. 38
16052352 2006
24
Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance. 38
11510941 2001
25
[Familial iminoglycinuria]. 38
9645136 1998
26
[Coffin-Lowry syndrome and hyperprolinemia]. 38
8135609 1993
27
Iminoglycinuria: a benign type of inherited aminoaciduria. 38
7504361 1993
28
[Inherited amino acid transport disorders]. 38
1404888 1992
29
[A case of type I hyperprolinemia associated with photogenic epilepsy]. 38
1994998 1991
30
A Fukuyama type of congenital muscular dystrophy associated with atypical gyrate atrophy of the choroid and retina. A case report. 38
4003043 1985
31
[Patterns of urinary aminoacid excretion in exceptional children and patients with mental disorders in Costa Rica]. 38
6665250 1983
32
Neonatal iminoglycinuria: evidence that the prolinuria originates in selective deficiency of transport activity in the proximal nephron. 38
7110792 1982
33
Atypical gyrate atrophy of the choroid and retina associated with iminoglycinuria. 38
7065959 1982
34
Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies. 38
7411317 1980
35
Combined iminoglycinuria and cystine- and dibasic aminoaciduria in patients with propionic acidaemia and 3-methylcrotonylglycinuria. 38
6775144 1980
36
Review of Metabolic Screening Program of Children's Hospital, Vancouver, British Columbia. 1971--1977. 38
519848 1979
37
Cystathioninuria, renal iminoglycinuria and...alpha 1-antitrypsin...deficiency in the same family: relevance in medical practice. 38
313837 1979
38
Uptake of glycine by human kidney cortex. 38
449705 1979
39
Ontogeny of amino acid reabsorption in human kidney. Evidence from the homozygous infant with familial renal iminoglycinuria for multiple proline and glycine systems. 38
432003 1979
40
A new type of heterozygote of familial renal iminoglycinuria. 38
732833 1978
41
Transport of amino acids in renal brush border membrane vesicles. Uptake of L-proline. 38
833146 1977
42
Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes. 38
956388 1976
43
Proceedings: Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids. 38
1205812 1975
44
Iminoglycinuria in a child in Czechoslovakia. 38
4744406 1973
45
Iminoglycinuria. A defect of renal tubular transport. 38
5042951 1972
46
Iminoglycinuria--a "harmless" inborn error of metabolism? 38
5713621 1968

Variations for Iminoglycinuria

ClinVar genetic disease variations for Iminoglycinuria:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC6A19 NM_001003841.3(SLC6A19): c.1017-4G> A single nucleotide variant Pathogenic 5:1216900-1216900 5:1216785-1216785
2 SLC36A2 NM_181776.3(SLC36A2): c.260G> T (p.Gly87Val) single nucleotide variant Pathogenic rs77010315 5:150723155-150723155 5:151343594-151343594
3 SLC36A2 SLC36A2, IVS1, G-A, +1 single nucleotide variant Pathogenic
4 SLC6A19 NM_001003841.3(SLC6A19): c.517G> A (p.Asp173Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121434346 5:1212453-1212453 5:1212338-1212338
5 SLC6A20 NM_020208.4(SLC6A20): c.596C> T (p.Thr199Met) single nucleotide variant Likely benign rs17279437 3:45814094-45814094 3:45772602-45772602

UniProtKB/Swiss-Prot genetic disease variations for Iminoglycinuria:

74
# Symbol AA change Variation ID SNP ID
1 SLC36A2 p.Gly87Val VAR_064795 rs77010315

Expression for Iminoglycinuria

Search GEO for disease gene expression data for Iminoglycinuria.

Pathways for Iminoglycinuria

Pathways related to Iminoglycinuria according to KEGG:

37
# 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 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1
2 plasma membrane GO:0005886 9.55 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1
3 brush border membrane GO:0031526 8.96 SLC6A19 SLC6A18
4 apical plasma membrane GO:0016324 8.8 SLC6A20 SLC6A19 SLC6A18

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 SLC6A20 SLC6A19 SLC6A18
2 neurotransmitter transport GO:0006836 9.58 SLC6A20 SLC6A19 SLC6A18
3 neutral amino acid transport GO:0015804 9.54 SLC6A19 SLC6A18 SLC36A1
4 glycine transport GO:0015816 9.5 SLC6A20 SLC36A2 SLC36A1
5 proton transmembrane transport GO:1902600 9.48 SLC36A2 SLC36A1
6 L-alanine transport GO:0015808 9.43 SLC36A2 SLC36A1
7 proline transport GO:0015824 9.43 SLC6A20 SLC36A2 SLC36A1
8 proline transmembrane transport GO:0035524 9.33 SLC6A20 SLC36A2 SLC36A1
9 amino acid transmembrane transport GO:0003333 9.26 SLC6A19 SLC6A18 SLC36A2 SLC36A1
10 amino acid transport GO:0006865 9.02 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1

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 SLC6A20 SLC6A19 SLC6A18 SLC36A1
2 neurotransmitter:sodium symporter activity GO:0005328 9.5 SLC6A20 SLC6A19 SLC6A18
3 proton transmembrane transporter activity GO:0015078 9.46 SLC36A2 SLC36A1
4 glycine transmembrane transporter activity GO:0015187 9.43 SLC36A2 SLC36A1
5 L-alanine transmembrane transporter activity GO:0015180 9.4 SLC36A2 SLC36A1
6 amino acid:proton symporter activity GO:0005280 9.37 SLC36A2 SLC36A1
7 neutral amino acid transmembrane transporter activity GO:0015175 9.33 SLC6A19 SLC6A18 SLC36A1
8 L-proline transmembrane transporter activity GO:0015193 9.13 SLC6A20 SLC36A2 SLC36A1
9 amino acid transmembrane transporter activity GO:0015171 9.02 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1

Sources for Iminoglycinuria

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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