MCID: HYP348
MIFTS: 34

Hyperglycinuria

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Hyperglycinuria

MalaCards integrated aliases for Hyperglycinuria:

Name: Hyperglycinuria 53 71 36 28 13 69
Glycinuria with or Without Oxalate Nephrolithiasis 53 71
Glycinuria with or Without Oxalate Urolithiasis 53 71
Iminoglycinuria Type Ii 53 71
Hg 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
hyperglycinuria:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 138500
MedGen 39 C0543541
MeSH 41 D000608
KEGG 36 H01304
SNOMED-CT via HPO 65 263681008 236477004 444717006
UMLS 69 C0543541

Summaries for Hyperglycinuria

OMIM : 53 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, and has symptoms including calcium oxalate nephrolithiasis 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 Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 71 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 11)
# Related Disease Score Top Affiliating Genes
1 iminoglycinuria 29.9 SLC36A2 SLC6A18 SLC6A19 SLC6A20
2 lesch-nyhan syndrome 11.3
3 dengue shock syndrome 10.9
4 cataract 10.0
5 osteomalacia 10.0
6 hypercalcemia, infantile, 1 9.8
7 phenylketonuria 9.8
8 nephrolithiasis 9.8
9 microphthalmia 9.8
10 pancreatitis 9.8
11 hartnup disorder 8.9 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:

53
GU:
renal colic
renal oxalate stones

Lab:
hyperglycinuria


Clinical features from OMIM:

138500

Human phenotypes related to Hyperglycinuria:

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

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

25 (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 SLC6A18 SLC36A2
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 28 SLC36A2 SLC6A19 SLC6A20

Anatomical Context for Hyperglycinuria

MalaCards organs/tissues related to Hyperglycinuria:

38
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
Glycine transport by cultured skin fibroblasts from a patient with isolated hyperglycinuria. ( 6775149 )
1980
4
Inhibition of the glycine cleavage system: hyperglycinemia and hyperglycinuria caused by valproic acid. ( 6777152 )
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 pancreatitis associated with hyperglycinuria. ( 4724921 )
1973
11
Familial hyperglycinuria. New defect in renal tubular transport of glycine and imino acids. ( 4685850 )
1973
12
Spongy degeneration of the white matter of the central nervous system associated with hyperglycinuria. ( 5748729 )
1968
13
Hypophosphatemic osteomalacia with hyperglycinuria. ( 6015585 )
1967
14
Persistent tachycardia, paroxymal hypertension, and seizures: association with hyperglycinuria, dominantly inherited microphthalmia, and cataracts. ( 6072641 )
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:

71
# Symbol AA change Variation ID SNP ID
1 SLC36A2 p.Gly87Val VAR_064795 rs77010315

ClinVar genetic disease variations for Hyperglycinuria:

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 SLC36A2, IVS1, G-A, +1 single nucleotide variant Pathogenic

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 9.13 SLC6A18 SLC6A19 SLC6A20
2 brush border membrane GO:0031526 8.62 SLC6A18 SLC6A19

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

# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.71 SLC36A2 SLC6A18 SLC6A19 SLC6A20
2 transmembrane transport GO:0055085 9.61 SLC6A18 SLC6A19 SLC6A20
3 amino acid transmembrane transport GO:0003333 9.37 SLC6A18 SLC6A19
4 glycine transport GO:0015816 9.32 SLC36A2 SLC6A20
5 proline transport GO:0015824 9.26 SLC36A2 SLC6A20
6 proline transmembrane transport GO:0035524 9.16 SLC36A2 SLC6A20
7 neurotransmitter transport GO:0006836 9.13 SLC6A18 SLC6A19 SLC6A20
8 amino acid transport GO:0006865 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 L-proline transmembrane transporter activity GO:0015193 9.26 SLC36A2 SLC6A20
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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