CSTNU
MCID: CYS019
MIFTS: 42

Cystathioninuria (CSTNU)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Cystathioninuria

MalaCards integrated aliases for Cystathioninuria:

Name: Cystathioninuria 58 12 54 60 76 38 30 13 56 6 15 41 74
Gamma-Cystathionase Deficiency 12 54 60 45 74
Cystathionase Deficiency 58 12 60 76 74
Cystathione Gamma-Lyase Deficiency Syndrome 12 60
Cstnu 76

Characteristics:

Orphanet epidemiological data:

60
cystathioninuria
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
majority of patients are pyridoxine-responsive


HPO:

33
cystathioninuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0090142
OMIM 58 219500
KEGG 38 H00182
NCIt 51 C129070
SNOMED-CT 69 13003007 6885006
ICD10 34 E72.19
MESH via Orphanet 46 C535408
ICD10 via Orphanet 35 E72.1
UMLS via Orphanet 75 C0220993 C0268616
Orphanet 60 ORPHA212
SNOMED-CT via HPO 70 258211005

Summaries for Cystathioninuria

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 212Disease definitionCystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cystathioninuria, also known as gamma-cystathionase deficiency, is related to hepatoblastoma and cystinuria. An important gene associated with Cystathioninuria is CTH (Cystathionine Gamma-Lyase), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and Cysteine and methionine metabolism. Affiliated tissues include liver, testes and placenta, and related phenotypes are cystathioninuria and cellular

Disease Ontology : 12 An amino acid metabolic disorder characterized by elevated plasma and urinary cystathionine levels that has material basis in homozygous or compound heterozygous mutation in the CTH gene on chromosome 1p31.

OMIM : 58 Cystathioninuria, an autosomal recessive phenotype with no striking pathologic features, is characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion. Because of the inconsistency and wide variety of disease associations, cystathioninuria is considered to be a benign biochemical anomaly (Mudd et al., 2001). (219500)

UniProtKB/Swiss-Prot : 76 Cystathioninuria: Autosomal recessive phenotype characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion.

Wikipedia : 77 Cystathioninuria, also called cystathionase deficiency, is an autosomal recessivemetabolic disorder that... more...

Related Diseases for Cystathioninuria

Graphical network of the top 20 diseases related to Cystathioninuria:



Diseases related to Cystathioninuria

Symptoms & Phenotypes for Cystathioninuria

Human phenotypes related to Cystathioninuria:

33
# Description HPO Frequency HPO Source Accession
1 cystathioninuria 33 HP:0003153

Symptoms via clinical synopsis from OMIM:

58
Neurologic:
mental retardation, but majority of patients are normal

Laboratory Abnormalities:
hepatic gamma-cystathionase deficiency
cystathioninuria

Clinical features from OMIM:

219500

MGI Mouse Phenotypes related to Cystathioninuria:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.7 APC2 CBSL CNR1 CTH NCF2 NR1H4
2 growth/size/body region MP:0005378 9.56 APC2 ASNS CBSL CNR1 CTH MTHFR
3 mortality/aging MP:0010768 9.23 CBSL CNR1 CTH MTHFR NCF2 NR1H4

Drugs & Therapeutics for Cystathioninuria

Search Clinical Trials , NIH Clinical Center for Cystathioninuria

Cochrane evidence based reviews: gamma-cystathionase deficiency

Genetic Tests for Cystathioninuria

Genetic tests related to Cystathioninuria:

# Genetic test Affiliating Genes
1 Cystathioninuria 30 CTH

Anatomical Context for Cystathioninuria

MalaCards organs/tissues related to Cystathioninuria:

42
Liver, Testes, Placenta

Publications for Cystathioninuria

Articles related to Cystathioninuria:

(show top 50) (show all 66)
# Title Authors Year
1
Methionine excess in diet induces acute lethal hepatitis in mice lacking cystathionine γ-lyase, an animal model of cystathioninuria. ( 22387178 )
2012
2
Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. ( 20584029 )
2010
3
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. ( 15887277 )
2005
4
Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). ( 12574942 )
2003
5
Hepatic gamma-cystathionase deficiency in patients with AIDS. ( 11255419 )
2001
6
Maternal gamma-cystathionase deficiency: absence of both teratogenic effects and pregnancy complications. ( 10486496 )
1999
7
Identification of cyclic cystathionine sulfoxide and N-acetylcyclic cystathionine in the urine of a patient with cystathioninuria using liquid chromatography-mass spectrometry with an atmospheric pressure chemical ionization interface system. ( 8843190 )
1996
8
Identification of N-acetyl-S-(3-oxo-3-carboxy-n-propyl)cysteine in the urine of a patient with cystathioninuria using LC/APCI-MS. ( 8750604 )
1995
9
Identification of new cystathionine mono-oxo acids, S-(3-oxo-3-carboxy-n-propyl) cysteine and S-(2-oxo-2-carboxyethyl) homocysteine, in the urine of a patient with cystathioninuria. ( 8373176 )
1993
10
Determination of cystathionine and perhydro-1,4-thiazepine-3,5-dicarboxylic acid in the urine of a patient with cystathioninuria using column liquid chromatography-mass spectrometry. ( 1429979 )
1992
11
Identification of NAc-HCPC and NAc-beta-CEC, and qualitative analyses of sulphur amino acids in the urine of a patient with cystathioninuria using liquid chromatography/atmospheric pressure ionization mass spectrometry. ( 1793738 )
1991
12
Cystathioninuria in Down's syndrome. ( 2526881 )
1989
13
Cystathioninuria in a profoundly mentally retarded woman with spastic tetraplegia, deafness and abnormal liver function tests. ( 3681958 )
1987
14
Cystathioninuria in patients with neuroblastoma. ( 6422219 )
1984
15
Quantitative analysis of cystathionine and perhydro-1,4-thiazepine-3,5-dicarboxylic acid in the urine of a patient with cystathioninuria using isotachophoresis. ( 6520162 )
1984
16
Pyridoxal-5'-phosphate determination by a sensitive micromethod in human blood, urine and tissues; its relation to cystathioninuria in neuroblastoma and biliary atresia. ( 6825312 )
1983
17
Cystathioninuria and its origin in children with hepatoblastoma. ( 6243161 )
1980
18
Cystathioninuria, renal iminoglycinuria and...alpha 1-antitrypsin...deficiency in the same family: relevance in medical practice. ( 313837 )
1979
19
Occurrence of secondary cystathioninuria in children with inherited metabolic disorders, liver diseases, neoplasms, cystic fibrosis and celiac disease. ( 210019 )
1978
20
Cystathionase deficiency: evidence for genetic heterogeneity in primary cystathioninuria. ( 417288 )
1978
21
The influence of vitamin B-6 on cystathioninuria in premature infants. ( 657534 )
1978
22
Primary cystathioninuria in an infant born out of incest. ( 615480 )
1977
23
Distribution of sulfur in urine of patients with cystathioninuria before and during administration of pyridoxine. ( 1250167 )
1976
24
Cystathioninuria and homocystinuria. ( 1122632 )
1975
25
Vitamin B6-responsive and -unresponsive cystathioninuria: two variant molecular forms. ( 1198108 )
1975
26
Psuedoachondroplastic dysplasia (type Kozlowski), with cystathioninuria and spherocytic hemolytic anemia. ( 4461070 )
1974
27
Cystathioninuria, mental retardation, and juvenile diabetes mellitus. ( 4810279 )
1974
28
Letter: "Pseudo-cystathioninuria"--a note of caution about chromatographic diagnosis. ( 4826633 )
1974
29
Cystathionase deficiency in fibroblast cultures from a patient with primary cystathioninuria. ( 4841081 )
1974
30
Recurrent urinary tract calculi possibly due to inherited cystathioninuria. ( 4761867 )
1973
31
Primary cystathioninuria. Methionine load tests and response to pyridoxine. ( 4640904 )
1972
32
Cystathioninuria in premature infants. ( 4645255 )
1972
33
Cystathioninuria in a well baby population. ( 5579857 )
1971
34
Epithelial hepatoblastoma associated with congenital hemihypertrophy and cystathioninuria: presentation of a case. ( 4316375 )
1970
35
Metabolism of L- 35 S-methionine in vitamin B 6 deficiency: observations on cystathioninuria. ( 5523420 )
1970
36
Cystathioninuria in children with neuroblastoma with and without metastasis. ( 5422742 )
1970
37
Cystathioninuria and behavioral development in a marasmic infant. ( 5436631 )
1970
38
A case of familial cystathioninuria with goiter and some anomalies. ( 5468424 )
1970
39
Cystathioninuria and B6 dependency. ( 5262009 )
1969
40
Secondary cystathioninuria. ( 5385504 )
1969
41
Cystathioninuria in a patient with cystinuria. ( 5788464 )
1969
42
Cystathioninuria in hepatoblastoma. ( 4301463 )
1968
43
Cystathioninuria in patients with neuroblastoma or ganglioneuroblastoma. Its correlation to vanilmandelic acid excretion and its value in diagnosis and therapy. ( 5212308 )
1968
44
Cystathioninuria in two healty siblings. ( 5637757 )
1968
45
Cystathioninuria. ( 5640533 )
1968
46
Cystathioninuria and renal iminoglycinuria in a pedigree. ( 5644557 )
1968
47
N-acetylcystathionine: a new urinary amino-acid in congenital cystathioninuria. ( 5659645 )
1968
48
Cystathioninuria accompanying necrotizing encephalomyelopathy of childhood. ( 5690401 )
1968
49
Cystathioninuria not associated with vitamin B6 dependency: a probably new type of cystathioninuria. ( 5707897 )
1968
50
Cystathioninuria. ( 4289134 )
1967

Variations for Cystathioninuria

UniProtKB/Swiss-Prot genetic disease variations for Cystathioninuria:

76
# Symbol AA change Variation ID SNP ID
1 CTH p.Thr67Ile VAR_015450 rs28941785
2 CTH p.Gln240Glu VAR_015451 rs28941786

ClinVar genetic disease variations for Cystathioninuria:

6 (show top 50) (show all 74)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTH CTH, 2-BP DEL, 940CT deletion Pathogenic
2 CTH CTH, 1-BP DEL, 1220C deletion Pathogenic
3 CTH NM_001902.5(CTH): c.200C> T (p.Thr67Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs28941785 GRCh37 Chromosome 1, 70881670: 70881670
4 CTH NM_001902.5(CTH): c.200C> T (p.Thr67Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs28941785 GRCh38 Chromosome 1, 70415987: 70415987
5 CTH NM_001902.5(CTH): c.718C> G (p.Gln240Glu) single nucleotide variant Pathogenic rs28941786 GRCh37 Chromosome 1, 70896071: 70896071
6 CTH NM_001902.5(CTH): c.718C> G (p.Gln240Glu) single nucleotide variant Pathogenic rs28941786 GRCh38 Chromosome 1, 70430388: 70430388
7 CTH NM_001902.5(CTH): c.1208G> T (p.Ser403Ile) single nucleotide variant Likely benign rs1021737 GRCh37 Chromosome 1, 70904800: 70904800
8 CTH NM_001902.5(CTH): c.1208G> T (p.Ser403Ile) single nucleotide variant Likely benign rs1021737 GRCh38 Chromosome 1, 70439117: 70439117
9 CTH NM_001190463.1(CTH): c.697C> T (p.Arg233Ter) single nucleotide variant Likely pathogenic rs773107808 GRCh38 Chromosome 1, 70432151: 70432151
10 CTH NM_001190463.1(CTH): c.697C> T (p.Arg233Ter) single nucleotide variant Likely pathogenic rs773107808 GRCh37 Chromosome 1, 70897834: 70897834
11 CTH NM_001902.5(CTH): c.430G> C (p.Glu144Gln) single nucleotide variant Uncertain significance rs773089704 GRCh38 Chromosome 1, 70421649: 70421649
12 CTH NM_001902.5(CTH): c.430G> C (p.Glu144Gln) single nucleotide variant Uncertain significance rs773089704 GRCh37 Chromosome 1, 70887332: 70887332
13 CTH NM_001902.5(CTH): c.589-3C> T single nucleotide variant Uncertain significance rs201568449 GRCh38 Chromosome 1, 70429791: 70429791
14 CTH NM_001902.5(CTH): c.589-3C> T single nucleotide variant Uncertain significance rs201568449 GRCh37 Chromosome 1, 70895474: 70895474
15 CTH NM_001902.5(CTH): c.*260T> C single nucleotide variant Uncertain significance rs768499542 GRCh38 Chromosome 1, 70439387: 70439387
16 CTH NM_001902.5(CTH): c.*260T> C single nucleotide variant Uncertain significance rs768499542 GRCh37 Chromosome 1, 70905070: 70905070
17 CTH NM_001902.5(CTH): c.*370C> T single nucleotide variant Uncertain significance rs868533214 GRCh38 Chromosome 1, 70439497: 70439497
18 CTH NM_001902.5(CTH): c.*370C> T single nucleotide variant Uncertain significance rs868533214 GRCh37 Chromosome 1, 70905180: 70905180
19 CTH NM_001902.5(CTH): c.*523A> T single nucleotide variant Likely benign rs583316 GRCh38 Chromosome 1, 70439650: 70439650
20 CTH NM_001902.5(CTH): c.*523A> T single nucleotide variant Likely benign rs583316 GRCh37 Chromosome 1, 70905333: 70905333
21 CTH NM_001902.5(CTH): c.*527A> T single nucleotide variant Uncertain significance rs886046515 GRCh37 Chromosome 1, 70905337: 70905337
22 CTH NM_001902.5(CTH): c.*527A> T single nucleotide variant Uncertain significance rs886046515 GRCh38 Chromosome 1, 70439654: 70439654
23 CTH NM_001902.5(CTH): c.*632G> A single nucleotide variant Uncertain significance rs565236096 GRCh37 Chromosome 1, 70905442: 70905442
24 CTH NM_001902.5(CTH): c.*632G> A single nucleotide variant Uncertain significance rs565236096 GRCh38 Chromosome 1, 70439759: 70439759
25 CTH NM_001902.5(CTH): c.-140A> T single nucleotide variant Likely benign rs17131292 GRCh38 Chromosome 1, 70411276: 70411276
26 CTH NM_001902.5(CTH): c.-140A> T single nucleotide variant Likely benign rs17131292 GRCh37 Chromosome 1, 70876959: 70876959
27 CTH NM_001902.5(CTH): c.-151T> C single nucleotide variant Uncertain significance rs767468686 GRCh38 Chromosome 1, 70411265: 70411265
28 CTH NM_001902.5(CTH): c.-151T> C single nucleotide variant Uncertain significance rs767468686 GRCh37 Chromosome 1, 70876948: 70876948
29 CTH NM_001902.5(CTH): c.864G> A (p.Lys288=) single nucleotide variant Uncertain significance rs368097625 GRCh38 Chromosome 1, 70432222: 70432222
30 CTH NM_001902.5(CTH): c.864G> A (p.Lys288=) single nucleotide variant Uncertain significance rs368097625 GRCh37 Chromosome 1, 70897905: 70897905
31 CTH NM_001902.5(CTH): c.995T> C (p.Leu332Pro) single nucleotide variant Uncertain significance rs767542599 GRCh38 Chromosome 1, 70433945: 70433945
32 CTH NM_001902.5(CTH): c.995T> C (p.Leu332Pro) single nucleotide variant Uncertain significance rs767542599 GRCh37 Chromosome 1, 70899628: 70899628
33 CTH NM_001902.5(CTH): c.1033G> A (p.Glu345Lys) single nucleotide variant Uncertain significance rs771762248 GRCh38 Chromosome 1, 70435158: 70435158
34 CTH NM_001902.5(CTH): c.1033G> A (p.Glu345Lys) single nucleotide variant Uncertain significance rs771762248 GRCh37 Chromosome 1, 70900841: 70900841
35 CTH NM_001902.5(CTH): c.1191+36_1191+43dupGTGTGTGT duplication Likely benign rs58815241 GRCh38 Chromosome 1, 70438862: 70438869
36 CTH NM_001902.5(CTH): c.1191+36_1191+43dupGTGTGTGT duplication Likely benign rs58815241 GRCh37 Chromosome 1, 70904545: 70904552
37 CTH NM_001902.5(CTH): c.1191+40_1191+43dupGTGT duplication Likely benign rs58815241 GRCh38 Chromosome 1, 70438866: 70438869
38 CTH NM_001902.5(CTH): c.1191+40_1191+43dupGTGT duplication Likely benign rs58815241 GRCh37 Chromosome 1, 70904549: 70904552
39 CTH NM_001902.5(CTH): c.*389T> C single nucleotide variant Uncertain significance rs76751106 GRCh38 Chromosome 1, 70439516: 70439516
40 CTH NM_001902.5(CTH): c.*389T> C single nucleotide variant Uncertain significance rs76751106 GRCh37 Chromosome 1, 70905199: 70905199
41 CTH NM_001902.5(CTH): c.*545C> T single nucleotide variant Uncertain significance rs886046516 GRCh38 Chromosome 1, 70439672: 70439672
42 CTH NM_001902.5(CTH): c.*545C> T single nucleotide variant Uncertain significance rs886046516 GRCh37 Chromosome 1, 70905355: 70905355
43 CTH NM_001902.5(CTH): c.-3A> G single nucleotide variant Uncertain significance rs757363405 GRCh38 Chromosome 1, 70411413: 70411413
44 CTH NM_001902.5(CTH): c.-3A> G single nucleotide variant Uncertain significance rs757363405 GRCh37 Chromosome 1, 70877096: 70877096
45 CTH NM_001902.5(CTH): c.346+7G> A single nucleotide variant Uncertain significance rs186217898 GRCh38 Chromosome 1, 70418039: 70418039
46 CTH NM_001902.5(CTH): c.346+7G> A single nucleotide variant Uncertain significance rs186217898 GRCh37 Chromosome 1, 70883722: 70883722
47 CTH NM_001902.5(CTH): c.495G> T (p.Lys165Asn) single nucleotide variant Uncertain significance rs375562313 GRCh38 Chromosome 1, 70424323: 70424323
48 CTH NM_001902.5(CTH): c.495G> T (p.Lys165Asn) single nucleotide variant Uncertain significance rs375562313 GRCh37 Chromosome 1, 70890006: 70890006
49 CTH NM_001902.5(CTH): c.541G> A (p.Asp181Asn) single nucleotide variant Uncertain significance rs748301555 GRCh38 Chromosome 1, 70424369: 70424369
50 CTH NM_001902.5(CTH): c.541G> A (p.Asp181Asn) single nucleotide variant Uncertain significance rs748301555 GRCh37 Chromosome 1, 70890052: 70890052

Expression for Cystathioninuria

Search GEO for disease gene expression data for Cystathioninuria.

Pathways for Cystathioninuria

Pathways related to Cystathioninuria according to KEGG:

38
# Name Kegg Source Accession
1 Glycine, serine and threonine metabolism hsa00260
2 Cysteine and methionine metabolism hsa00270

GO Terms for Cystathioninuria

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

# Name GO ID Score Top Affiliating Genes
1 response to amino acid GO:0043200 9.43 ASNS MTHFR
2 cysteine biosynthetic process GO:0019344 9.4 CBSL CTH
3 homocysteine metabolic process GO:0050667 9.37 CBSL MTHFR
4 cellular amino acid metabolic process GO:0006520 9.33 ASNS MTHFR PEPD
5 transsulfuration GO:0019346 9.32 CBSL CTH
6 hydrogen sulfide biosynthetic process GO:0070814 9.26 CBSL CTH
7 cellular amino acid biosynthetic process GO:0008652 9.13 ASNS CBSL CTH
8 cysteine biosynthetic process via cystathionine GO:0019343 8.62 CBSL CTH

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

# Name GO ID Score Top Affiliating Genes
1 pyridoxal phosphate binding GO:0030170 8.62 CBSL CTH

Sources for Cystathioninuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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