HG
MCID: HYP348
MIFTS: 38

Hyperglycinuria (HG)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Hyperglycinuria

MalaCards integrated aliases for Hyperglycinuria:

Name: Hyperglycinuria 57 72 36 29 13 6 39 70
Glycinuria with or Without Oxalate Nephrolithiasis 57 72
Glycinuria with or Without Oxalate Urolithiasis 57 72
Iminoglycinuria Type Ii 57 72
Hg 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
hyperglycinuria:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 138500
KEGG 36 H01304
MeSH 44 D000608
MedGen 41 C0543541
SNOMED-CT via HPO 68 236477004 263681008 444717006
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Hyperglycinuria, also known as glycinuria with or without oxalate nephrolithiasis, is related to iminoglycinuria and propionic acidemia. 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 brain, kidney and liver, and related phenotypes are calcium oxalate nephrolithiasis and hyperglycinuria

KEGG : 36 Hyperglycinuria (HG) is an autosomal recessive abnormality of renal transport of glycine, resulting from mutations in genes encoding proline and glycine transporters.

UniProtKB/Swiss-Prot : 72 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:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 iminoglycinuria 30.0 SLC6A20 SLC6A19 SLC6A18 SLC36A2
2 propionic acidemia 10.1
3 glycine encephalopathy 10.0
4 osteomalacia 10.0
5 cataract 10.0
6 galloway-mowat syndrome 1 9.9
7 phenylketonuria 9.9
8 microphthalmia 9.9
9 nephrolithiasis 9.9
10 seizure disorder 9.9
11 developmental and epileptic encephalopathy 3 9.7 SLC6A18 SLC36A2
12 hyperekplexia 9.5 SLC6A19 SLC6A18
13 hartnup disorder 9.4 SLC6A20 SLC6A19 SLC6A18

Graphical network of the top 20 diseases related to Hyperglycinuria:



Diseases related to Hyperglycinuria

Symptoms & Phenotypes for Hyperglycinuria

Human phenotypes related to Hyperglycinuria:

31
# Description HPO Frequency HPO Source Accession
1 calcium oxalate nephrolithiasis 31 HP:0008672
2 hyperglycinuria 31 HP:0003108

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Lab:
hyperglycinuria

G U:
renal colic
renal oxalate stones

Clinical features from OMIM®:

138500 (Updated 20-May-2021)

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.53 SLC6A20
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-113 9.53 SLC36A2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-114 9.53 SLC6A20
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-127 9.53 SLC36A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.53 SLC36A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.53 SLC6A20
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.53 SLC36A2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-158 9.53 SLC36A2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-185 9.53 SLC6A18
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.53 SLC36A2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.53 SLC6A20
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.53 SLC6A18
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 9.53 SLC6A18

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:

40
Brain, Kidney, Liver, Skin

Publications for Hyperglycinuria

Articles related to Hyperglycinuria:

(show all 41)
# Title Authors PMID Year
1
Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. 6 57 61
19033659 2008
2
Hyperglycinuria with nephrolithiasis. 57 61
668712 1978
3
Familial hyperglycinuria. New defect in renal tubular transport of glycine and imino acids. 57 61
4685850 1973
4
Renal tubular transport of proline, hydroxyproline, and glycine. 3. Genetic basis for more than one mode of transport in human kidney. 61 57
5641621 1968
5
Persistent tachycardia, paroxymal hypertension, and seizures: association with hyperglycinuria, dominantly inherited microphthalmia, and cataracts. 61 57
6072641 1967
6
Renal iminoglycinuria without intestinal malabsorption of glycine and imino acids. 57
5308714 1970
7
Glycinuria, a hereditary disorder associated with nephrolithiasis. 57
13458205 1957
8
Late-onset nonketotic hyperglycinemia with a heterozygous novel point mutation of the GLDC gene. 61
24731848 2014
9
The SLC36 family of proton-coupled amino acid transporters and their potential role in drug transport. 61
21501141 2011
10
Phenylketonuria with familial hyperglycinuria. 61
7837780 1994
11
[Coffin-Lowry syndrome and hyperprolinemia]. 61
8135609 1993
12
Intermittent vertical supranuclear ophthalmoplegia and ataxia. 61
2005927 1991
13
Nonketotic hyperglycinemia: studies in an atypical variant. 61
2464775 1989
14
Adult hypophosphatemic osteomalacia: report of two cases. 61
3840730 1985
15
[Screening for congenital metabolic diseases in mentally retarded patients in 6 psychiatric institutions of Lower Saxony]. 61
6492685 1984
16
[Inhibition by dipropyl acetate and its structural analogs of the glycine synthase system in liver and brain mitochondria]. 61
6815738 1982
17
[Human fibroblast bank for studying amino acid disorders and organic acidemias]. 61
7146578 1982
18
Aminoaciduria in handicapped children: a study using ion-exchange chromatography as a screening test. 61
6165874 1981
19
Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia. 61
7241536 1981
20
Metabolic abnormalities observed in the rat after administration of sodium dipropylacetate. 61
6787743 1981
21
Inhibition of the glycine cleavage system: hyperglycinemia and hyperglycinuria caused by valproic acid. 61
6777152 1980
22
Glycine transport by cultured skin fibroblasts from a patient with isolated hyperglycinuria. 61
6775149 1980
23
Hyperglycinuria: a family report. 61
530303 1979
24
[Propionic acidemia and sodium dipropylacetate]. 61
117938 1979
25
Rare association of hyperglycinuria and lenticonus in two members of the same family. 61
471431 1979
26
[Effect of n-dipropyl-acetate on the elimination of urinary amino acids]. 61
361651 1978
27
Hyperglycinuria and hyperglycinemia in two siblings with mild developmental delays. 61
80128 1978
28
Ontogeny of glycine transport in isolated rat renal tubules. 61
910920 1977
29
[Hyperglycinuria induced by n-dipropylacetate. Possible model of propionic acidemia]. 61
333384 1977
30
Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids in association with profound mental retardation, a possible "cerebral phenotype". 61
955941 1976
31
Hyperglycinuria in a family with autosomal dominantly inherited cataract. 61
4430153 1974
32
Familial pancreatitis associated with hyperglycinuria. 61
4724921 1973
33
[Study on a case of hyperglycinuria with oxalate calculi and ketoaciduria]. 61
4680163 1972
34
Spongy degeneration of the white matter of the central nervous system associated with hyperglycinuria. 61
5748729 1968
35
Hypophosphatemic osteomalacia with hyperglycinuria. 61
6015585 1967
36
[Hyperglycinemia (glycinosis) with familial idiopathic hyperglycinuria. 1st observation in Germany]. 61
5924250 1966
37
Hyperglycinuria with severe neurological manifestations. 61
5855430 1965
38
HYPERGLYCINAEMIA AND HYPERGLYCINURIA IN A NEWBORN INFANT. 61
14206882 1964
39
Idiopathic hyperglycinuria. III. Report of a second case. 61
13939302 1963
40
Acquired vitamin D-resistant osteomalacia: a new variety characterized by hypercalcemia, low serum bicarbonate and hyperglycinuria. 61
13906479 1962
41
Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I. 61
13693094 1961

Variations for Hyperglycinuria

ClinVar genetic disease variations for Hyperglycinuria:

6 (show top 50) (show all 171)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC6A19 NM_001003841.3(SLC6A19):c.1017-4G>A SNV Pathogenic 2021 rs35329108 GRCh37: 5:1216900-1216900
GRCh38: 5:1216785-1216785
2 SLC6A20 NM_020208.4(SLC6A20):c.1609C>T (p.Gln537Ter) SNV Pathogenic 997642 GRCh37: 3:45801369-45801369
GRCh38: 3:45759877-45759877
3 SLC6A20 NM_020208.4(SLC6A20):c.231G>A (p.Trp77Ter) SNV Pathogenic 1032069 GRCh37: 3:45823606-45823606
GRCh38: 3:45782114-45782114
4 SLC6A20 NM_020208.4(SLC6A20):c.86G>A (p.Trp29Ter) SNV Pathogenic 1032070 GRCh37: 3:45837826-45837826
GRCh38: 3:45796334-45796334
5 SLC36A2 SLC36A2, IVS1, G-A, +1 SNV Pathogenic 2385 GRCh37:
GRCh38:
6 SLC6A19 NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) SNV Pathogenic 2019 rs121434346 GRCh37: 5:1212453-1212453
GRCh38: 5:1212338-1212338
7 SLC6A19 NM_001003841.3(SLC6A19):c.1603C>T (p.Arg535Cys) SNV Uncertain significance 973458 GRCh37: 5:1221330-1221330
GRCh38: 5:1221215-1221215
8 SLC6A19 NM_001003841.3(SLC6A19):c.712C>T (p.Leu238Phe) SNV Uncertain significance 973486 GRCh37: 5:1213626-1213626
GRCh38: 5:1213511-1213511
9 SLC36A2 NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val) SNV Uncertain significance 2384 rs77010315 GRCh37: 5:150723155-150723155
GRCh38: 5:151343594-151343594
10 SLC6A20 NM_020208.4(SLC6A20):c.1491C>T (p.Thr497=) SNV Uncertain significance 903325 GRCh37: 3:45801487-45801487
GRCh38: 3:45759995-45759995
11 SLC6A20 NM_020208.4(SLC6A20):c.1452C>T (p.Tyr484=) SNV Uncertain significance 903326 GRCh37: 3:45804416-45804416
GRCh38: 3:45762924-45762924
12 SLC6A20 NM_020208.4(SLC6A20):c.473C>T (p.Pro158Leu) SNV Uncertain significance 903393 GRCh37: 3:45817362-45817362
GRCh38: 3:45775870-45775870
13 SLC6A20 NM_020208.4(SLC6A20):c.398C>T (p.Thr133Met) SNV Uncertain significance 903394 GRCh37: 3:45817437-45817437
GRCh38: 3:45775945-45775945
14 SLC6A20 NM_020208.4(SLC6A20):c.*2492T>C SNV Uncertain significance 345355 rs541425547 GRCh37: 3:45797978-45797978
GRCh38: 3:45756486-45756486
15 SLC6A20 NM_020208.4(SLC6A20):c.*2583T>C SNV Uncertain significance 345353 rs886058528 GRCh37: 3:45797887-45797887
GRCh38: 3:45756395-45756395
16 SLC6A20 NM_020208.4(SLC6A20):c.*2557A>C SNV Uncertain significance 976639 GRCh37: 3:45797913-45797913
GRCh38: 3:45756421-45756421
17 SLC6A19 NM_001003841.3(SLC6A19):c.1701+1G>A SNV Uncertain significance 623442 rs756010661 GRCh37: 5:1221429-1221429
GRCh38: 5:1221314-1221314
18 SLC6A20 NM_020208.4(SLC6A20):c.694-15C>T SNV Uncertain significance 900865 GRCh37: 3:45812965-45812965
GRCh38: 3:45771473-45771473
19 SLC6A20 NM_020208.4(SLC6A20):c.693+14C>T SNV Uncertain significance 900866 GRCh37: 3:45813983-45813983
GRCh38: 3:45772491-45772491
20 SLC6A20 NM_020208.4(SLC6A20):c.678C>T (p.Tyr226=) SNV Uncertain significance 900867 GRCh37: 3:45814012-45814012
GRCh38: 3:45772520-45772520
21 SLC6A20 NM_020208.4(SLC6A20):c.79A>G (p.Asn27Asp) SNV Uncertain significance 900938 GRCh37: 3:45837833-45837833
GRCh38: 3:45796341-45796341
22 SLC6A20 NM_020208.4(SLC6A20):c.74T>C (p.Leu25Pro) SNV Uncertain significance 900939 GRCh37: 3:45837838-45837838
GRCh38: 3:45796346-45796346
23 SLC6A20 NM_020208.4(SLC6A20):c.-63C>A SNV Uncertain significance 900940 GRCh37: 3:45837974-45837974
GRCh38: 3:45796482-45796482
24 SLC6A20 NM_020208.4(SLC6A20):c.-76G>T SNV Uncertain significance 901617 GRCh37: 3:45837987-45837987
GRCh38: 3:45796495-45796495
25 SLC6A20 NM_020208.4(SLC6A20):c.*2808C>T SNV Uncertain significance 902320 GRCh37: 3:45797662-45797662
GRCh38: 3:45756170-45756170
26 SLC6A20 NM_020208.4(SLC6A20):c.*2762A>T SNV Uncertain significance 902321 GRCh37: 3:45797708-45797708
GRCh38: 3:45756216-45756216
27 SLC6A20 NM_020208.4(SLC6A20):c.*2749G>A SNV Uncertain significance 902322 GRCh37: 3:45797721-45797721
GRCh38: 3:45756229-45756229
28 SLC6A20 NM_020208.4(SLC6A20):c.*1351C>T SNV Uncertain significance 902397 GRCh37: 3:45799119-45799119
GRCh38: 3:45757627-45757627
29 SLC6A20 NM_020208.4(SLC6A20):c.*1285T>C SNV Uncertain significance 902398 GRCh37: 3:45799185-45799185
GRCh38: 3:45757693-45757693
30 SLC6A20 NM_020208.4(SLC6A20):c.*22C>G SNV Uncertain significance 902459 GRCh37: 3:45800448-45800448
GRCh38: 3:45758956-45758956
31 SLC6A20 NM_020208.4(SLC6A20):c.*19G>A SNV Uncertain significance 902460 GRCh37: 3:45800451-45800451
GRCh38: 3:45758959-45758959
32 SLC6A20 NM_020208.4(SLC6A20):c.1744C>T (p.Arg582Cys) SNV Uncertain significance 902461 GRCh37: 3:45800505-45800505
GRCh38: 3:45759013-45759013
33 SLC6A20 NM_020208.4(SLC6A20):c.1677C>G (p.Ile559Met) SNV Uncertain significance 902462 GRCh37: 3:45800572-45800572
GRCh38: 3:45759080-45759080
34 SLC6A20 NM_020208.4(SLC6A20):c.666T>A (p.Asn222Lys) SNV Uncertain significance 902539 GRCh37: 3:45814024-45814024
GRCh38: 3:45772532-45772532
35 SLC6A20 NM_020208.4(SLC6A20):c.594C>T (p.Phe198=) SNV Uncertain significance 902540 GRCh37: 3:45814096-45814096
GRCh38: 3:45772604-45772604
36 SLC6A20 NM_020208.4(SLC6A20):c.*3521G>T SNV Uncertain significance 903130 GRCh37: 3:45796949-45796949
GRCh38: 3:45755457-45755457
37 SLC6A20 NM_020208.4(SLC6A20):c.*2263C>T SNV Uncertain significance 903187 GRCh37: 3:45798207-45798207
GRCh38: 3:45756715-45756715
38 SLC6A20 NM_020208.4(SLC6A20):c.*2243C>G SNV Uncertain significance 903188 GRCh37: 3:45798227-45798227
GRCh38: 3:45756735-45756735
39 SLC6A20 NM_020208.4(SLC6A20):c.*1269G>A SNV Uncertain significance 903253 GRCh37: 3:45799201-45799201
GRCh38: 3:45757709-45757709
40 SLC6A20 NM_020208.4(SLC6A20):c.*1257G>A SNV Uncertain significance 903254 GRCh37: 3:45799213-45799213
GRCh38: 3:45757721-45757721
41 SLC6A20 NM_020208.4(SLC6A20):c.*1023C>T SNV Uncertain significance 903255 GRCh37: 3:45799447-45799447
GRCh38: 3:45757955-45757955
42 SLC6A20 NM_020208.4(SLC6A20):c.*1017T>C SNV Uncertain significance 903256 GRCh37: 3:45799453-45799453
GRCh38: 3:45757961-45757961
43 SLC6A20 NM_020208.4(SLC6A20):c.1646A>G (p.Lys549Arg) SNV Uncertain significance 903323 GRCh37: 3:45800603-45800603
GRCh38: 3:45759111-45759111
44 SLC6A20 NM_020208.4(SLC6A20):c.*3342A>T SNV Uncertain significance 899511 GRCh37: 3:45797128-45797128
GRCh38: 3:45755636-45755636
45 SLC6A20 NM_020208.4(SLC6A20):c.*3320C>G SNV Uncertain significance 899512 GRCh37: 3:45797150-45797150
GRCh38: 3:45755658-45755658
46 SLC6A20 NM_020208.4(SLC6A20):c.*2198T>C SNV Uncertain significance 899573 GRCh37: 3:45798272-45798272
GRCh38: 3:45756780-45756780
47 SLC6A20 NM_020208.4(SLC6A20):c.*2025G>A SNV Uncertain significance 899574 GRCh37: 3:45798445-45798445
GRCh38: 3:45756953-45756953
48 SLC6A20 NM_020208.4(SLC6A20):c.*1987G>A SNV Uncertain significance 899575 GRCh37: 3:45798483-45798483
GRCh38: 3:45756991-45756991
49 SLC6A20 NM_020208.4(SLC6A20):c.*730G>A SNV Uncertain significance 899647 GRCh37: 3:45799740-45799740
GRCh38: 3:45758248-45758248
50 SLC6A20 NM_020208.4(SLC6A20):c.*697G>A SNV Uncertain significance 899648 GRCh37: 3:45799773-45799773
GRCh38: 3:45758281-45758281

UniProtKB/Swiss-Prot genetic disease variations for Hyperglycinuria:

72
# Symbol AA change Variation ID SNP ID
1 SLC36A2 p.Gly87Val VAR_064795 rs77010315

Expression for Hyperglycinuria

Search GEO for disease gene expression data for Hyperglycinuria.

Pathways for Hyperglycinuria

Pathways related to Hyperglycinuria according to KEGG:

36
# 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 integral component of plasma membrane GO:0005887 9.33 SLC6A20 SLC6A19 SLC6A18
2 brush border membrane GO:0031526 8.96 SLC6A19 SLC6A18
3 apical plasma membrane GO:0016324 8.8 SLC6A20 SLC6A19 SLC6A18

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

# Name GO ID Score Top Affiliating Genes
1 sodium ion transmembrane transport GO:0035725 9.33 SLC6A20 SLC6A19 SLC6A18
2 glycine transport GO:0015816 9.32 SLC6A20 SLC36A2
3 proline transport GO:0015824 9.26 SLC6A20 SLC36A2
4 amino acid transmembrane transport GO:0003333 9.13 SLC6A19 SLC6A18 SLC36A2
5 amino acid transport GO:0006865 8.92 SLC6A20 SLC6A19 SLC6A18 SLC36A2

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

# Name GO ID Score Top Affiliating Genes
1 neutral amino acid transmembrane transporter activity GO:0015175 9.26 SLC6A20 SLC6A19
2 L-proline transmembrane transporter activity GO:0015193 9.16 SLC6A20 SLC36A2
3 symporter activity GO:0015293 9.13 SLC6A20 SLC6A19 SLC6A18
4 amino acid transmembrane transporter activity GO:0015171 8.92 SLC6A20 SLC6A19 SLC6A18 SLC36A2

Sources for Hyperglycinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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