MCID: IMN001
MIFTS: 40

Iminoglycinuria

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Iminoglycinuria

MalaCards integrated aliases for Iminoglycinuria:

Name: Iminoglycinuria 57 76 53 59 75 37 29 55 6 40 73
Iminoglycinuria, Digenic 57 13 6
Ig 75

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
Orphanet 59 ORPHA42062
MESH via Orphanet 45 C536285
UMLS via Orphanet 74 C0268654
ICD10 via Orphanet 34 E72.0
MedGen 42 C0268654
MeSH 44 D000608
KEGG 37 H00905
UMLS 73 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, 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 abnormality of the eye and intellectual disability

UniProtKB/Swiss-Prot : 75 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 : 53 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.

Wikipedia : 76 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 40)
# Related Disease Score Top Affiliating Genes
1 hyperglycinuria 29.8 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 12.2
8 amelogenesis imperfecta, type ig 12.1
9 usher syndrome, type ig 11.9
10 selective ige deficiency disease 11.9
11 immunodeficiency 35 11.8
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 agammaglobulinemia, x-linked 11.2
25 immunodeficiency with hyper-igm, type 4 11.2
26 allergic asthma 11.2
27 dermatitis, atopic, 2 11.1
28 asthma-related traits 4 11.1
29 epilepsy, idiopathic generalized 10 11.1
30 immunodeficiency with hyper-igm, type 2 11.0
31 immunodeficiency with hyper-igm, type 5 11.0
32 nephrotic syndrome, type 7 11.0
33 omenn syndrome 10.9
34 cystathioninuria 10.0
35 gyrate atrophy of choroid and retina 10.0
36 choroiditis 10.0
37 aminoaciduria 10.0
38 alpha-1-antitrypsin deficiency 9.9
39 cerebritis 9.9
40 hartnup disorder 8.3 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:

57
Laboratory Abnormalities:
iminoglycinuria
hydroxyprolinuria
prolinuria
hyperglycinuria (also present in heterozygotes)


Clinical features from OMIM:

242600

Human phenotypes related to Iminoglycinuria:

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

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

26 (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 SLC6A20 SLC6A18
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 29 SLC36A2 SLC6A19 SLC6A20

Anatomical Context for Iminoglycinuria

MalaCards organs/tissues related to Iminoglycinuria:

41
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:

75
# 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 NM_181776.2(SLC36A2): c.260G> T (p.Gly87Val) single nucleotide variant Pathogenic rs77010315 GRCh38 Chromosome 5, 151343594: 151343594
4 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:

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 SLC36A1 SLC36A2 SLC6A18 SLC6A19 SLC6A20
2 plasma membrane GO:0005886 9.55 SLC36A1 SLC36A2 SLC6A18 SLC6A19 SLC6A20
3 vacuolar membrane GO:0005774 8.96 SLC36A1 SLC36A2
4 brush border membrane GO:0031526 8.8 SLC6A18 SLC6A19 SLC6A20

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

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter transport GO:0006836 9.54 SLC6A18 SLC6A19 SLC6A20
2 neutral amino acid transport GO:0015804 9.5 SLC36A1 SLC6A18 SLC6A19
3 proton transmembrane transport GO:1902600 9.46 SLC36A1 SLC36A2
4 L-alanine transport GO:0015808 9.43 SLC36A1 SLC36A2
5 glycine transport GO:0015816 9.43 SLC36A1 SLC36A2 SLC6A20
6 proline transmembrane transport GO:0035524 9.4 SLC36A1 SLC36A2
7 amino acid transport GO:0006865 9.35 SLC36A1 SLC36A2 SLC6A18 SLC6A19 SLC6A20
8 proline transport GO:0015824 9.33 SLC36A1 SLC36A2 SLC6A20
9 amino acid transmembrane transport GO:0003333 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 proton transmembrane transporter activity GO:0015078 9.46 SLC36A1 SLC36A2
2 glycine transmembrane transporter activity GO:0015187 9.43 SLC36A1 SLC36A2
3 neurotransmitter:sodium symporter activity GO:0005328 9.43 SLC6A18 SLC6A19 SLC6A20
4 L-alanine transmembrane transporter activity GO:0015180 9.4 SLC36A1 SLC36A2
5 L-proline transmembrane transporter activity GO:0015193 9.37 SLC36A1 SLC36A2
6 neutral amino acid transmembrane transporter activity GO:0015175 9.33 SLC36A1 SLC6A18 SLC6A19
7 amino acid:proton symporter activity GO:0005280 9.32 SLC36A1 SLC36A2
8 symporter activity GO:0015293 9.26 SLC36A1 SLC6A18 SLC6A19 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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