MCID: HYP348
MIFTS: 33

Hyperglycinuria

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Hyperglycinuria

MalaCards integrated aliases for Hyperglycinuria:

Name: Hyperglycinuria 57 75 37 29 13 6 40 73
Glycinuria with or Without Oxalate Nephrolithiasis 57 75
Glycinuria with or Without Oxalate Urolithiasis 57 75
Iminoglycinuria Type Ii 57 75
Hg 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hyperglycinuria:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 138500
MedGen 42 C0543541
MeSH 44 D000608
KEGG 37 H01304
SNOMED-CT via HPO 69 263681008 236477004 444717006
UMLS 73 C0543541

Summaries for Hyperglycinuria

OMIM : 57 The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG; 242600), 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) (summary by Broer et al., 2008). A phenotype of combined glucosuria and glycinuria has been described (see 138070). (138500)

MalaCards based summary : Hyperglycinuria, also known as glycinuria with or without oxalate nephrolithiasis, is related to iminoglycinuria and lesch-nyhan syndrome. An important gene associated with Hyperglycinuria 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 skin, and related phenotypes are hyperglycinuria and calcium oxalate nephrolithiasis

UniProtKB/Swiss-Prot : 75 Hyperglycinuria: A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones.

Related Diseases for Hyperglycinuria

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

# Related Disease Score Top Affiliating Genes
1 iminoglycinuria 29.4 SLC36A2 SLC6A18 SLC6A19 SLC6A20
2 lesch-nyhan syndrome 11.3
3 cataract 10.0
4 osteomalacia 10.0
5 phenylketonuria 9.8
6 nephrolithiasis 9.8
7 microphthalmia 9.8
8 pancreatitis 9.8
9 hartnup disorder 8.7 SLC6A18 SLC6A19 SLC6A20

Graphical network of the top 20 diseases related to Hyperglycinuria:



Diseases related to Hyperglycinuria

Symptoms & Phenotypes for Hyperglycinuria

Symptoms via clinical synopsis from OMIM:

57
GU:
renal colic
renal oxalate stones

Lab:
hyperglycinuria


Clinical features from OMIM:

138500

Human phenotypes related to Hyperglycinuria:

32
# Description HPO Frequency HPO Source Accession
1 hyperglycinuria 32 HP:0003108
2 calcium oxalate nephrolithiasis 32 HP:0008672

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

26 (show all 22)
# 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

Drugs & Therapeutics for Hyperglycinuria

Search Clinical Trials , NIH Clinical Center for Hyperglycinuria

Genetic Tests for Hyperglycinuria

Genetic tests related to Hyperglycinuria:

# Genetic test Affiliating Genes
1 Hyperglycinuria 29 SLC36A2 SLC6A19 SLC6A20

Anatomical Context for Hyperglycinuria

MalaCards organs/tissues related to Hyperglycinuria:

41
Skin

Publications for Hyperglycinuria

Articles related to Hyperglycinuria:

(show all 19)
# Title Authors Year
1
Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. ( 19033659 )
2008
2
Phenylketonuria with familial hyperglycinuria. ( 7837780 )
1994
3
Inhibition of the glycine cleavage system: hyperglycinemia and hyperglycinuria caused by valproic acid. ( 6777152 )
1980
4
Glycine transport by cultured skin fibroblasts from a patient with isolated hyperglycinuria. ( 6775149 )
1980
5
Rare association of hyperglycinuria and lenticonus in two members of the same family. ( 471431 )
1979
6
Hyperglycinuria: a family report. ( 530303 )
1979
7
Hyperglycinuria with nephrolithiasis. ( 668712 )
1978
8
Hyperglycinuria and hyperglycinemia in two siblings with mild developmental delays. ( 80128 )
1978
9
Hyperglycinuria in a family with autosomal dominantly inherited cataract. ( 4430153 )
1974
10
Familial hyperglycinuria. New defect in renal tubular transport of glycine and imino acids. ( 4685850 )
1973
11
Familial pancreatitis associated with hyperglycinuria. ( 4724921 )
1973
12
Spongy degeneration of the white matter of the central nervous system associated with hyperglycinuria. ( 5748729 )
1968
13
Persistent tachycardia, paroxymal hypertension, and seizures: association with hyperglycinuria, dominantly inherited microphthalmia, and cataracts. ( 6072641 )
1967
14
Hypophosphatemic osteomalacia with hyperglycinuria. ( 6015585 )
1967
15
Hyperglycinuria with severe neurological manifestations. ( 5855430 )
1965
16
HYPERGLYCINAEMIA AND HYPERGLYCINURIA IN A NEWBORN INFANT. ( 14206882 )
1964
17
Idiopathic hyperglycinuria. III. Report of a second case. ( 13939302 )
1963
18
Acquired vitamin D-resistant osteomalacia: a new variety characterized by hypercalcemia, low serum bicarbonate and hyperglycinuria. ( 13906479 )
1962
19
Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I. ( 13693094 )
1961

Variations for Hyperglycinuria

UniProtKB/Swiss-Prot genetic disease variations for Hyperglycinuria:

75
# Symbol AA change Variation ID SNP ID
1 SLC36A2 p.Gly87Val VAR_064795 rs77010315

ClinVar genetic disease variations for Hyperglycinuria:

6
(show top 50) (show all 194)
# 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
5 SLC6A20 NM_020208.3(SLC6A20): c.*3436C> T single nucleotide variant Uncertain significance rs569114783 GRCh38 Chromosome 3, 45755542: 45755542
6 SLC6A20 NM_020208.3(SLC6A20): c.*3436C> T single nucleotide variant Uncertain significance rs569114783 GRCh37 Chromosome 3, 45797034: 45797034
7 SLC6A20 NM_020208.3(SLC6A20): c.*3436C> G single nucleotide variant Uncertain significance rs569114783 GRCh38 Chromosome 3, 45755542: 45755542
8 SLC6A20 NM_020208.3(SLC6A20): c.*3436C> G single nucleotide variant Uncertain significance rs569114783 GRCh37 Chromosome 3, 45797034: 45797034
9 SLC6A20 NM_020208.3(SLC6A20): c.*3408A> G single nucleotide variant Uncertain significance rs886058526 GRCh38 Chromosome 3, 45755570: 45755570
10 SLC6A20 NM_020208.3(SLC6A20): c.*3408A> G single nucleotide variant Uncertain significance rs886058526 GRCh37 Chromosome 3, 45797062: 45797062
11 SLC6A20 NM_020208.3(SLC6A20): c.*2685T> C single nucleotide variant Likely benign rs2742388 GRCh38 Chromosome 3, 45756293: 45756293
12 SLC6A20 NM_020208.3(SLC6A20): c.*2685T> C single nucleotide variant Likely benign rs2742388 GRCh37 Chromosome 3, 45797785: 45797785
13 SLC6A20 NM_020208.3(SLC6A20): c.*2479A> G single nucleotide variant Likely benign rs17078308 GRCh38 Chromosome 3, 45756499: 45756499
14 SLC6A20 NM_020208.3(SLC6A20): c.*2479A> G single nucleotide variant Likely benign rs17078308 GRCh37 Chromosome 3, 45797991: 45797991
15 SLC6A20 NM_020208.3(SLC6A20): c.*2442A> C single nucleotide variant Uncertain significance rs763196010 GRCh38 Chromosome 3, 45756536: 45756536
16 SLC6A20 NM_020208.3(SLC6A20): c.*2442A> C single nucleotide variant Uncertain significance rs763196010 GRCh37 Chromosome 3, 45798028: 45798028
17 SLC6A20 NM_020208.3(SLC6A20): c.*1506A> T single nucleotide variant Uncertain significance rs539802611 GRCh37 Chromosome 3, 45798964: 45798964
18 SLC6A20 NM_020208.3(SLC6A20): c.*1506A> T single nucleotide variant Uncertain significance rs539802611 GRCh38 Chromosome 3, 45757472: 45757472
19 SLC6A20 NM_020208.3(SLC6A20): c.*1422A> G single nucleotide variant Uncertain significance rs570836605 GRCh37 Chromosome 3, 45799048: 45799048
20 SLC6A20 NM_020208.3(SLC6A20): c.*1422A> G single nucleotide variant Uncertain significance rs570836605 GRCh38 Chromosome 3, 45757556: 45757556
21 SLC6A20 NM_020208.3(SLC6A20): c.*1345T> C single nucleotide variant Uncertain significance rs531832972 GRCh37 Chromosome 3, 45799125: 45799125
22 SLC6A20 NM_020208.3(SLC6A20): c.*1345T> C single nucleotide variant Uncertain significance rs531832972 GRCh38 Chromosome 3, 45757633: 45757633
23 SLC6A20 NM_020208.3(SLC6A20): c.*1169T> C single nucleotide variant Uncertain significance rs368608688 GRCh38 Chromosome 3, 45757809: 45757809
24 SLC6A20 NM_020208.3(SLC6A20): c.*1169T> C single nucleotide variant Uncertain significance rs368608688 GRCh37 Chromosome 3, 45799301: 45799301
25 SLC6A20 NM_020208.3(SLC6A20): c.*1063_*1064dupAA duplication Uncertain significance rs774194927 GRCh38 Chromosome 3, 45757914: 45757915
26 SLC6A20 NM_020208.3(SLC6A20): c.*1063_*1064dupAA duplication Uncertain significance rs774194927 GRCh37 Chromosome 3, 45799406: 45799407
27 SLC6A20 NM_020208.3(SLC6A20): c.*1044delC deletion Uncertain significance rs886058536 GRCh38 Chromosome 3, 45757934: 45757934
28 SLC6A20 NM_020208.3(SLC6A20): c.*1044delC deletion Uncertain significance rs886058536 GRCh37 Chromosome 3, 45799426: 45799426
29 SLC6A20 NM_020208.3(SLC6A20): c.*537T> C single nucleotide variant Likely benign rs73060335 GRCh37 Chromosome 3, 45799933: 45799933
30 SLC6A20 NM_020208.3(SLC6A20): c.*537T> C single nucleotide variant Likely benign rs73060335 GRCh38 Chromosome 3, 45758441: 45758441
31 SLC6A20 NM_020208.3(SLC6A20): c.*446G> A single nucleotide variant Likely benign rs60986539 GRCh37 Chromosome 3, 45800024: 45800024
32 SLC6A20 NM_020208.3(SLC6A20): c.*446G> A single nucleotide variant Likely benign rs60986539 GRCh38 Chromosome 3, 45758532: 45758532
33 SLC6A20 NM_020208.3(SLC6A20): c.1092A> T (p.Leu364=) single nucleotide variant Likely benign rs371002443 GRCh38 Chromosome 3, 45770215: 45770215
34 SLC6A20 NM_020208.3(SLC6A20): c.1092A> T (p.Leu364=) single nucleotide variant Likely benign rs371002443 GRCh37 Chromosome 3, 45811707: 45811707
35 SLC6A20 NM_020208.3(SLC6A20): c.786C> T (p.Phe262=) single nucleotide variant Likely benign rs144563792 GRCh38 Chromosome 3, 45771366: 45771366
36 SLC6A20 NM_020208.3(SLC6A20): c.786C> T (p.Phe262=) single nucleotide variant Likely benign rs144563792 GRCh37 Chromosome 3, 45812858: 45812858
37 SLC6A20 NM_020208.3(SLC6A20): c.654C> T (p.His218=) single nucleotide variant Uncertain significance rs775911371 GRCh38 Chromosome 3, 45772544: 45772544
38 SLC6A20 NM_020208.3(SLC6A20): c.654C> T (p.His218=) single nucleotide variant Uncertain significance rs775911371 GRCh37 Chromosome 3, 45814036: 45814036
39 SLC6A20 NM_020208.3(SLC6A20): c.599C> T (p.Ala200Val) single nucleotide variant Uncertain significance rs747095857 GRCh37 Chromosome 3, 45814091: 45814091
40 SLC6A20 NM_020208.3(SLC6A20): c.599C> T (p.Ala200Val) single nucleotide variant Uncertain significance rs747095857 GRCh38 Chromosome 3, 45772599: 45772599
41 SLC6A20 NM_020208.3(SLC6A20): c.417T> C (p.Cys139=) single nucleotide variant Likely benign rs758386 GRCh38 Chromosome 3, 45775926: 45775926
42 SLC6A20 NM_020208.3(SLC6A20): c.417T> C (p.Cys139=) single nucleotide variant Likely benign rs758386 GRCh37 Chromosome 3, 45817418: 45817418
43 SLC6A20 NM_020208.3(SLC6A20): c.354+7C> T single nucleotide variant Uncertain significance rs561215947 GRCh38 Chromosome 3, 45780002: 45780002
44 SLC6A20 NM_020208.3(SLC6A20): c.354+7C> T single nucleotide variant Uncertain significance rs561215947 GRCh37 Chromosome 3, 45821494: 45821494
45 SLC6A20 NM_020208.3(SLC6A20): c.282C> G (p.Val94=) single nucleotide variant Likely benign rs2742399 GRCh38 Chromosome 3, 45780081: 45780081
46 SLC6A20 NM_020208.3(SLC6A20): c.282C> G (p.Val94=) single nucleotide variant Likely benign rs2742399 GRCh37 Chromosome 3, 45821573: 45821573
47 SLC6A20 NM_020208.3(SLC6A20): c.262+4C> T single nucleotide variant Uncertain significance rs777914805 GRCh38 Chromosome 3, 45782079: 45782079
48 SLC6A20 NM_020208.3(SLC6A20): c.262+4C> T single nucleotide variant Uncertain significance rs777914805 GRCh37 Chromosome 3, 45823571: 45823571
49 SLC6A20 NM_020208.3(SLC6A20): c.-45G> C single nucleotide variant Uncertain significance rs373219947 GRCh38 Chromosome 3, 45796464: 45796464
50 SLC6A20 NM_020208.3(SLC6A20): c.-45G> C single nucleotide variant Uncertain significance rs373219947 GRCh37 Chromosome 3, 45837956: 45837956

Expression for Hyperglycinuria

Search GEO for disease gene expression data for Hyperglycinuria.

Pathways for Hyperglycinuria

Pathways related to Hyperglycinuria according to KEGG:

37
# Name Kegg Source Accession
1 Protein digestion and absorption hsa04974
2 Mineral absorption hsa04978

GO Terms for Hyperglycinuria

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

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.96 SLC6A19 SLC6A20
2 brush border membrane GO:0031526 8.8 SLC6A18 SLC6A19 SLC6A20

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

# Name GO ID Score Top Affiliating Genes
1 neutral amino acid transport GO:0015804 9.37 SLC6A18 SLC6A19
2 neurotransmitter transport GO:0006836 9.33 SLC6A18 SLC6A19 SLC6A20
3 glycine transport GO:0015816 9.32 SLC36A2 SLC6A20
4 proline transport GO:0015824 9.26 SLC36A2 SLC6A20
5 amino acid transport GO:0006865 9.26 SLC36A2 SLC6A18 SLC6A19 SLC6A20
6 amino acid transmembrane transport GO:0003333 8.92 SLC36A2 SLC6A18 SLC6A19 SLC6A20

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

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.33 SLC6A18 SLC6A19 SLC6A20
2 neutral amino acid transmembrane transporter activity GO:0015175 9.26 SLC6A18 SLC6A19
3 neurotransmitter:sodium symporter activity GO:0005328 9.13 SLC6A18 SLC6A19 SLC6A20
4 amino acid transmembrane transporter activity GO:0015171 8.92 SLC36A2 SLC6A18 SLC6A19 SLC6A20

Sources for Hyperglycinuria

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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