HG
MCID: HYP348
MIFTS: 41

Hyperglycinuria (HG)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Hyperglycinuria

MalaCards integrated aliases for Hyperglycinuria:

Name: Hyperglycinuria 56 73 36 29 13 6 39 71
Glycinuria with or Without Oxalate Nephrolithiasis 56 73
Glycinuria with or Without Oxalate Urolithiasis 56 73
Iminoglycinuria Type Ii 56 73
Hg 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hyperglycinuria:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 138500
KEGG 36 H01304
MeSH 43 D000608
MedGen 41 C0543541
SNOMED-CT via HPO 68 236477004 263681008 444717006
UMLS 71 C0543541

Summaries for Hyperglycinuria

OMIM : 56 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 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 : 73 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 top 50) (show all 173)
# Related Disease Score Top Affiliating Genes
1 iminoglycinuria 30.3 SLC6A20 SLC6A19 SLC6A18 SLC36A2
2 lesch-nyhan syndrome 11.6
3 orthostatic hypotension 1 11.3
4 orthostatic hypotension 2 11.3
5 severe pre-eclampsia 11.3
6 glaucoma 1, open angle, p 11.2
7 combined d-2- and l-2-hydroxyglutaric aciduria 11.2
8 portal hypertension, noncirrhotic 11.2
9 dengue shock syndrome 11.2
10 hair whorl 10.4
11 triiodothyronine receptor auxiliary protein 10.4
12 rapidly involuting congenital hemangioma 10.4
13 propionic acidemia 10.4
14 mercury poisoning 10.3
15 glycine encephalopathy 10.3
16 osteomalacia 10.3
17 cataract 10.3
18 papillomatosis, confluent and reticulated 10.2
19 fibromatosis, gingival, 4 10.2
20 kidney disease 10.2
21 48,xyyy 10.2
22 heavy metal poisoning 10.2
23 chronic kidney disease 10.2
24 dentinogenesis imperfecta type 2 10.2
25 posttransplant acute limbic encephalitis 10.2
26 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
27 microvascular complications of diabetes 3 10.1
28 microvascular complications of diabetes 4 10.1
29 microvascular complications of diabetes 6 10.1
30 microvascular complications of diabetes 7 10.1
31 renal fibrosis 10.1
32 cardiac arrest 10.1
33 toxic shock syndrome 10.1
34 overgrowth syndrome 10.1
35 galloway-mowat syndrome 1 10.1
36 phenylketonuria 10.1
37 microphthalmia 10.1
38 visual epilepsy 10.1
39 pancreatitis 10.1
40 nephrolithiasis 10.1
41 seizure disorder 10.1
42 colorectal cancer 10.1
43 ocular motor apraxia 10.1
44 insulin-like growth factor i 10.1
45 microvascular complications of diabetes 5 10.1
46 pre-eclampsia 10.1
47 chlamydia 10.1
48 autoimmune disease 10.0
49 yemenite deaf-blind hypopigmentation syndrome 10.0
50 pulmonary disease, chronic obstructive 10.0

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:

56
Lab:
hyperglycinuria

G U:
renal colic
renal oxalate stones

Clinical features from OMIM:

138500

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, Testes

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 56 61
19033659 2008
2
Hyperglycinuria with nephrolithiasis. 61 56
668712 1978
3
Familial hyperglycinuria. New defect in renal tubular transport of glycine and imino acids. 56 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. 56 61
5641621 1968
5
Persistent tachycardia, paroxymal hypertension, and seizures: association with hyperglycinuria, dominantly inherited microphthalmia, and cataracts. 56 61
6072641 1967
6
Renal iminoglycinuria without intestinal malabsorption of glycine and imino acids. 56
5308714 1970
7
Glycinuria, a hereditary disorder associated with nephrolithiasis. 56
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
[Human fibroblast bank for studying amino acid disorders and organic acidemias]. 61
7146578 1982
17
[Inhibition by dipropyl acetate and its structural analogs of the glycine synthase system in liver and brain mitochondria]. 61
6815738 1982
18
Aminoaciduria in handicapped children: a study using ion-exchange chromatography as a screening test. 61
6165874 1981
19
Metabolic abnormalities observed in the rat after administration of sodium dipropylacetate. 61
6787743 1981
20
Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia. 61
7241536 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 164) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC6A19 NM_001003841.3(SLC6A19):c.1017-4G>ASNV Pathogenic 2021 rs35329108 5:1216900-1216900 5:1216785-1216785
2 SLC36A2 SLC36A2, IVS1, G-A, +1SNV Pathogenic 2385
3 SLC6A19 NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)SNV Conflicting interpretations of pathogenicity 2019 rs121434346 5:1212453-1212453 5:1212338-1212338
4 SLC36A2 NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val)SNV Conflicting interpretations of pathogenicity 2384 rs77010315 5:150723155-150723155 5:151343594-151343594
5 SLC6A20 NM_020208.4(SLC6A20):c.1006G>A (p.Val336Met)SNV Uncertain significance 899717 3:45811793-45811793 3:45770301-45770301
6 SLC6A20 NM_020208.4(SLC6A20):c.132G>A (p.Leu44=)SNV Uncertain significance 899781 3:45823705-45823705 3:45782213-45782213
7 SLC6A20 NM_020208.4(SLC6A20):c.79A>G (p.Asn27Asp)SNV Uncertain significance 900938 3:45837833-45837833 3:45796341-45796341
8 SLC6A20 NM_020208.4(SLC6A20):c.74T>C (p.Leu25Pro)SNV Uncertain significance 900939 3:45837838-45837838 3:45796346-45796346
9 SLC6A20 NM_020208.4(SLC6A20):c.-63C>ASNV Uncertain significance 900940 3:45837974-45837974 3:45796482-45796482
10 SLC6A20 NM_020208.4(SLC6A20):c.-76G>TSNV Uncertain significance 901617 3:45837987-45837987 3:45796495-45796495
11 SLC6A20 NM_020208.4(SLC6A20):c.694-15C>TSNV Uncertain significance 900865 3:45812965-45812965 3:45771473-45771473
12 SLC6A20 NM_020208.4(SLC6A20):c.693+14C>TSNV Uncertain significance 900866 3:45813983-45813983 3:45772491-45772491
13 SLC6A20 NM_020208.4(SLC6A20):c.678C>T (p.Tyr226=)SNV Uncertain significance 900867 3:45814012-45814012 3:45772520-45772520
14 SLC6A20 NM_020208.4(SLC6A20):c.666T>A (p.Asn222Lys)SNV Uncertain significance 902539 3:45814024-45814024 3:45772532-45772532
15 SLC6A20 NM_020208.4(SLC6A20):c.594C>T (p.Phe198=)SNV Uncertain significance 902540 3:45814096-45814096 3:45772604-45772604
16 SLC6A20 NM_020208.4(SLC6A20):c.473C>T (p.Pro158Leu)SNV Uncertain significance 903393 3:45817362-45817362 3:45775870-45775870
17 SLC6A20 NM_020208.4(SLC6A20):c.398C>T (p.Thr133Met)SNV Uncertain significance 903394 3:45817437-45817437 3:45775945-45775945
18 SLC6A20 NM_020208.4(SLC6A20):c.310G>A (p.Val104Ile)SNV Uncertain significance 899778 3:45821545-45821545 3:45780053-45780053
19 SLC6A20 NM_020208.4(SLC6A20):c.*2442A>CSNV Uncertain significance 345357 rs763196010 3:45798028-45798028 3:45756536-45756536
20 SLC6A20 NM_020208.4(SLC6A20):c.*1169T>CSNV Uncertain significance 345379 rs368608688 3:45799301-45799301 3:45757809-45757809
21 SLC6A20 NM_020208.4(SLC6A20):c.*1063_*1064dupduplication Uncertain significance 345381 rs774194927 3:45799405-45799406 3:45757913-45757914
22 SLC6A20 NM_020208.4(SLC6A20):c.*1044deldeletion Uncertain significance 345382 rs886058536 3:45799426-45799426 3:45757934-45757934
23 SLC6A20 NM_020208.4(SLC6A20):c.*3408A>GSNV Uncertain significance 345344 rs886058526 3:45797062-45797062 3:45755570-45755570
24 SLC6A20 NM_020208.4(SLC6A20):c.*3436C>GSNV Uncertain significance 345343 rs569114783 3:45797034-45797034 3:45755542-45755542
25 SLC36A2 NM_181776.3(SLC36A2):c.448G>A (p.Val150Met)SNV Uncertain significance 592116 rs766388628 5:150718698-150718698 5:151339137-151339137
26 SLC6A20 NM_020208.4(SLC6A20):c.1098+2T>CSNV Uncertain significance 631921 rs1275324148 3:45811699-45811699 3:45770207-45770207
27 SLC6A20 NM_020208.4(SLC6A20):c.354+2T>ASNV Uncertain significance 632416 rs531515127 3:45821499-45821499 3:45780007-45780007
28 SLC6A20 NM_020208.4(SLC6A20):c.*3102G>TSNV Uncertain significance 900639 3:45797368-45797368 3:45755876-45755876
29 SLC6A20 NM_020208.4(SLC6A20):c.*3521G>TSNV Uncertain significance 903130 3:45796949-45796949 3:45755457-45755457
30 SLC6A20 NM_020208.4(SLC6A20):c.*3342A>TSNV Uncertain significance 899511 3:45797128-45797128 3:45755636-45755636
31 SLC6A20 NM_020208.4(SLC6A20):c.*3320C>GSNV Uncertain significance 899512 3:45797150-45797150 3:45755658-45755658
32 SLC6A20 NM_020208.4(SLC6A20):c.*3051A>TSNV Uncertain significance 900640 3:45797419-45797419 3:45755927-45755927
33 SLC6A20 NM_020208.4(SLC6A20):c.*3015T>CSNV Uncertain significance 900641 3:45797455-45797455 3:45755963-45755963
34 SLC6A20 NM_020208.4(SLC6A20):c.*2939A>GSNV Uncertain significance 900642 3:45797531-45797531 3:45756039-45756039
35 SLC6A20 NM_020208.4(SLC6A20):c.*2898T>ASNV Uncertain significance 900643 3:45797572-45797572 3:45756080-45756080
36 SLC6A20 NM_020208.4(SLC6A20):c.*2883C>TSNV Uncertain significance 900644 3:45797587-45797587 3:45756095-45756095
37 SLC6A20 NM_020208.4(SLC6A20):c.*2833C>TSNV Uncertain significance 900645 3:45797637-45797637 3:45756145-45756145
38 SLC6A20 NM_020208.4(SLC6A20):c.*2808C>TSNV Uncertain significance 902320 3:45797662-45797662 3:45756170-45756170
39 SLC6A20 NM_020208.4(SLC6A20):c.*2762A>TSNV Uncertain significance 902321 3:45797708-45797708 3:45756216-45756216
40 SLC6A20 NM_020208.4(SLC6A20):c.*2749G>ASNV Uncertain significance 902322 3:45797721-45797721 3:45756229-45756229
41 SLC6A20 NM_020208.4(SLC6A20):c.*2263C>TSNV Uncertain significance 903187 3:45798207-45798207 3:45756715-45756715
42 SLC6A20 NM_020208.4(SLC6A20):c.*2243C>GSNV Uncertain significance 903188 3:45798227-45798227 3:45756735-45756735
43 SLC6A20 NM_020208.4(SLC6A20):c.*2198T>CSNV Uncertain significance 899573 3:45798272-45798272 3:45756780-45756780
44 SLC6A20 NM_020208.4(SLC6A20):c.*2025G>ASNV Uncertain significance 899574 3:45798445-45798445 3:45756953-45756953
45 SLC6A20 NM_020208.4(SLC6A20):c.*1987G>ASNV Uncertain significance 899575 3:45798483-45798483 3:45756991-45756991
46 SLC6A20 NM_020208.4(SLC6A20):c.*1760C>TSNV Uncertain significance 900712 3:45798710-45798710 3:45757218-45757218
47 SLC6A20 NM_020208.4(SLC6A20):c.*1643G>ASNV Uncertain significance 900713 3:45798827-45798827 3:45757335-45757335
48 SLC6A20 NM_020208.4(SLC6A20):c.*1581G>CSNV Uncertain significance 900714 3:45798889-45798889 3:45757397-45757397
49 SLC6A20 NM_020208.4(SLC6A20):c.*1351C>TSNV Uncertain significance 902397 3:45799119-45799119 3:45757627-45757627
50 SLC6A20 NM_020208.4(SLC6A20):c.*1285T>CSNV Uncertain significance 902398 3:45799185-45799185 3:45757693-45757693

UniProtKB/Swiss-Prot genetic disease variations for Hyperglycinuria:

73
# 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 transmembrane transport GO:0055085 9.61 SLC6A20 SLC6A19 SLC6A18
2 neurotransmitter transport GO:0006836 9.43 SLC6A20 SLC6A19 SLC6A18
3 glycine transport GO:0015816 9.4 SLC6A20 SLC36A2
4 proline transport GO:0015824 9.37 SLC6A20 SLC36A2
5 transport GO:0006810 9.33 SLC6A20 SLC6A19 SLC6A18
6 proline transmembrane transport GO:0035524 9.32 SLC6A20 SLC36A2
7 amino acid transport GO:0006865 9.26 SLC6A20 SLC6A19 SLC6A18 SLC36A2
8 amino acid transmembrane transport GO:0003333 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 symporter activity GO:0015293 9.33 SLC6A20 SLC6A19 SLC6A18
2 L-proline transmembrane transporter activity GO:0015193 9.26 SLC6A20 SLC36A2
3 neurotransmitter:sodium symporter activity GO:0005328 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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