MCID: CYS019
MIFTS: 30

Cystathioninuria

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Cystathioninuria

MalaCards integrated aliases for Cystathioninuria:

Name: Cystathioninuria 54 12 50 24 56 71 29 13 52 69
Gamma-Cystathionase Deficiency 12 50 56 42 69
Cystathionase Deficiency 12 24 56 71 69
Cystathione Gamma-Lyase Deficiency Syndrome 12 56
Cstnu 71

Characteristics:

Orphanet epidemiological data:

56
cystathioninuria
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
majority of patients are pyridoxine-responsive


HPO:

32
cystathioninuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 219500
Disease Ontology 12 DOID:0090142
ICD10 33 E72.1
Orphanet 56 ORPHA212
MESH via Orphanet 43 C535408
UMLS via Orphanet 70 C0220993 C0268616
ICD10 via Orphanet 34 E72.1
SNOMED-CT via HPO 65 258211005 13003007

Summaries for Cystathioninuria

NIH Rare Diseases : 50 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. last updated: 5/1/2006

MalaCards based summary : Cystathioninuria, also known as gamma-cystathionase deficiency, is related to neuroblastoma and cystinuria. An important gene associated with Cystathioninuria is CTH (Cystathionine Gamma-Lyase). Affiliated tissues include liver and testes.

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 : 54
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 : 71 Cystathioninuria: Autosomal recessive phenotype characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion.

Wikipedia : 72 Cystathioninuria, also called cystathionase deficiency, is an autosomal recessivemetabolic disorder that... more...

Related Diseases for Cystathioninuria

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

(show all 16)
id Related Disease Score Top Affiliating Genes
1 neuroblastoma 9.9
2 cystinuria 9.8
3 liver disease 9.8
4 hepatoblastoma 9.8
5 spasticity 9.7
6 celiac disease 9.7
7 cystic fibrosis 9.7
8 galactosemia 9.7
9 alpha 1-antitrypsin deficiency 9.7
10 hepatitis 9.7
11 biliary atresia 9.7
12 ganglioneuroblastoma 9.7
13 inherited metabolic disorder 9.7
14 homocystinuria 9.7
15 hemihypertrophy 9.7
16 pyridoxine deficiency 9.7

Graphical network of the top 20 diseases related to Cystathioninuria:



Diseases related to Cystathioninuria

Symptoms & Phenotypes for Cystathioninuria

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
cystathioninuria
hepatic gamma-cystathionase deficiency

Neurologic:
mental retardation, but majority of patients are normal


Clinical features from OMIM:

219500

Human phenotypes related to Cystathioninuria:

32
id Description HPO Frequency HPO Source Accession
1 cystathioninuria 32 HP:0003153

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:

id Genetic test Affiliating Genes
1 Cystathioninuria 29 24 CTH

Anatomical Context for Cystathioninuria

MalaCards organs/tissues related to Cystathioninuria:

39
Liver, Testes

Publications for Cystathioninuria

Articles related to Cystathioninuria:

(show all 28)
id Title Authors Year
1
Methionine excess in diet induces acute lethal hepatitis in mice lacking cystathionine I^-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
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
6
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
7
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
8
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
9
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
10
Cystathioninuria in Down's syndrome. ( 2526881 )
1989
11
Cystathioninuria in a profoundly mentally retarded woman with spastic tetraplegia, deafness and abnormal liver function tests. ( 3681958 )
1987
12
Cystathioninuria in patients with neuroblastoma. ( 6422219 )
1984
13
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
14
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
15
Cystathioninuria and its origin in children with hepatoblastoma. ( 6243161 )
1980
16
Cystathioninuria, renal iminoglycinuria and...alpha 1-antitrypsin...deficiency in the same family: relevance in medical practice. ( 313837 )
1979
17
Cystathionase deficiency: evidence for genetic heterogeneity in primary cystathioninuria. ( 417288 )
1978
18
Occurrence of secondary cystathioninuria in children with inherited metabolic disorders, liver diseases, neoplasms, cystic fibrosis and celiac disease. ( 210019 )
1978
19
The influence of vitamin B-6 on cystathioninuria in premature infants. ( 657534 )
1978
20
Primary cystathioninuria in an infant born out of incest. ( 615480 )
1977
21
Cystathioninuria and homocystinuria. ( 1122632 )
1975
22
Epithelial hepatoblastoma associated with congenital hemihypertrophy and cystathioninuria: presentation of a case. ( 4316375 )
1970
23
Cystathioninuria in a patient with cystinuria. ( 5788464 )
1969
24
Cystathioninuria in patients with neuroblastoma or ganglioneuroblastoma. Its correlation to vanilmandelic acid excretion and its value in diagnosis and therapy. ( 5212308 )
1968
25
Cystathioninuria and renal iminoglycinuria in a pedigree. ( 5644557 )
1968
26
Renal clearance of cystathionine in homozygous and heterozygous cystathioninuria, cystinuria, and the normal state. ( 6026103 )
1967
27
Cystathioninuria in galactosemia and certain types of liver disease. ( 6075655 )
1967
28
Cystathioninuria from pyridoxine deficiency complicating treatment of hypercalcaemia in a cretin. ( 4161245 )
1966

Variations for Cystathioninuria

UniProtKB/Swiss-Prot genetic disease variations for Cystathioninuria:

71
id 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
id 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 Pathogenic rs28941785 GRCh37 Chromosome 1, 70881670: 70881670
4 CTH NM_001902.5(CTH): c.718C> G (p.Gln240Glu) single nucleotide variant Pathogenic rs28941786 GRCh37 Chromosome 1, 70896071: 70896071
5 CTH NM_001190463.1(CTH): c.697C> T (p.Arg233Ter) single nucleotide variant Likely pathogenic rs773107808 GRCh38 Chromosome 1, 70432151: 70432151

Expression for Cystathioninuria

Search GEO for disease gene expression data for Cystathioninuria.

Pathways for Cystathioninuria

GO Terms for Cystathioninuria

Sources for Cystathioninuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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30 HGMD
31 HMDB
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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69 UMLS
70 UMLS via Orphanet
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