Cystathioninuria disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CSTNU MCID: CYS019 MIFTS: 42	Cystathioninuria (CSTNU) Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of amino-acid metabolism

Disorders of sulfur-bearing amino-acid metabolism

Orphanet: ⁶⁰

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0090142

OMIM ⁵⁸ 219500

KEGG ³⁸ H00182

MeSH ⁴⁵ C535408 D020138

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

MedGen ⁴³ C0220993 C0268616 C3495552

SNOMED-CT via HPO ⁷⁰ 258211005

UMLS ⁷⁴ C0220993 C0268616 C3495552

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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...

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Related Diseases for Cystathioninuria

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

(show all 29)

#	Related Disease	Score	Top Affiliating Genes
1	hepatoblastoma	10.2
2	cystinuria	10.1
3	iminoglycinuria	10.1
4	liver disease	10.1
5	homocystinuria	10.1
6	placenta disease	10.1
7	cutaneous solitary mastocytoma	10.0	PEPD SERPINA1
8	diabetes insipidus, nephrogenic, autosomal	9.9
9	celiac disease 1	9.9
10	cystic fibrosis	9.9
11	galactosemia	9.9
12	hemihyperplasia, isolated	9.9
13	mitochondrial dna depletion syndrome 3	9.9
14	alpha-1-antitrypsin deficiency	9.9
15	diabetes mellitus	9.9
16	hemolytic anemia	9.9
17	hepatitis	9.9
18	mitochondrial dna depletion syndrome	9.9
19	goiter	9.9
20	quadriplegia	9.9
21	biliary atresia	9.9
22	ganglioneuroblastoma	9.9
23	pyridoxine deficiency anemia	9.9
24	diabetes insipidus	9.9
25	pyridoxine deficiency	9.9
26	acute lymphoblastic leukemia, childhood	9.9	ASNS MTHFR
27	homocysteinemia	9.9	CTH MTHFR
28	carotid artery dissection	9.8	MTHFR SERPINA1
29	inherited metabolic disorder	9.6	MTHFR SERPINA1

Graphical network of the top 20 diseases related to Cystathioninuria:

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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

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Drugs & Therapeutics for Cystathioninuria

Search Clinical Trials , NIH Clinical Center for Cystathioninuria

Cochrane evidence based reviews: gamma-cystathionase deficiency

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Genetic Tests for Cystathioninuria

Genetic tests related to Cystathioninuria:

#	Genetic test	Affiliating Genes
1	Cystathioninuria ³⁰	CTH

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Anatomical Context for Cystathioninuria

MalaCards organs/tissues related to Cystathioninuria:

⁴²

Liver, Testes, Placenta

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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 )	Yamada H...Ishii I	2012
2	Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. ( 20584029 )	Espin?s C...Artuch R	2010
3	Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. ( 15887277 )	Tadiboyina VT...Hegele RA	2005
4	Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). ( 12574942 )	Wang J...Hegele RA	2003
5	Hepatic gamma-cystathionase deficiency in patients with AIDS. ( 11255419 )	Martin JA...Vi?a J	2001
6	Maternal gamma-cystathionase deficiency: absence of both teratogenic effects and pregnancy complications. ( 10486496 )	Vargas JE...Levy HL	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 )	Zhang J...Kodama H	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 )	Zhang J...Kodama H	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 )	Okada T...Kodama H	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 )	Sugahara K...Kodama H	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 )	Watanabe H...Ohmori S	1991
12	Cystathioninuria in Down's syndrome. ( 2526881 )	Hestnes A...Gjessing L	1989
13	Cystathioninuria in a profoundly mentally retarded woman with spastic tetraplegia, deafness and abnormal liver function tests. ( 3681958 )	Hestnes A...Gjessing LR	1987
14	Cystathioninuria in patients with neuroblastoma. ( 6422219 )	Rajnherc JR...Vo?te PA	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 )	Kodama H...Ricci G	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 )	Shin YS...Endres W	1983
17	Cystathioninuria and its origin in children with hepatoblastoma. ( 6243161 )	Geiser CF...Shih VE	1980
18	Cystathioninuria, renal iminoglycinuria and...alpha 1-antitrypsin...deficiency in the same family: relevance in medical practice. ( 313837 )	Halal F...Varsano I	1979
19	Occurrence of secondary cystathioninuria in children with inherited metabolic disorders, liver diseases, neoplasms, cystic fibrosis and celiac disease. ( 210019 )	Endres W...Wuttge B	1978
20	Cystathionase deficiency: evidence for genetic heterogeneity in primary cystathioninuria. ( 417288 )	Pascal TA...Tallan HH	1978
21	The influence of vitamin B-6 on cystathioninuria in premature infants. ( 657534 )	Endres W...Bremer HJ	1978
22	Primary cystathioninuria in an infant born out of incest. ( 615480 )	Hy?nek J...Seemanov? E	1977
23	Distribution of sulfur in urine of patients with cystathioninuria before and during administration of pyridoxine. ( 1250167 )	Frimpter GW...Horwith M	1976
24	Cystathioninuria and homocystinuria. ( 1122632 )	Levy HL...Madigan PM	1975
25	Vitamin B6-responsive and -unresponsive cystathioninuria: two variant molecular forms. ( 1198108 )	Pascal TA...Hirschhorn K	1975
26	Psuedoachondroplastic dysplasia (type Kozlowski), with cystathioninuria and spherocytic hemolytic anemia. ( 4461070 )	Elliott DE	1974
27	Cystathioninuria, mental retardation, and juvenile diabetes mellitus. ( 4810279 )	AvRuskin TW...Kang ES	1974
28	Letter: "Pseudo-cystathioninuria"--a note of caution about chromatographic diagnosis. ( 4826633 )	Laws HF...Frimpter GW	1974
29	Cystathionase deficiency in fibroblast cultures from a patient with primary cystathioninuria. ( 4841081 )	Bittles AH...Carson NA	1974
30	Recurrent urinary tract calculi possibly due to inherited cystathioninuria. ( 4761867 )	Frimpter GW	1973
31	Primary cystathioninuria. Methionine load tests and response to pyridoxine. ( 4640904 )	Bremer HJ...Endres W	1972
32	Cystathioninuria in premature infants. ( 4645255 )	Przyrembel H...Bremer HJ	1972
33	Cystathioninuria in a well baby population. ( 5579857 )	Lyon IC...Turner B	1971
34	Epithelial hepatoblastoma associated with congenital hemihypertrophy and cystathioninuria: presentation of a case. ( 4316375 )	Geiser CF...Shih VE	1970
35	Metabolism of L- 35 S-methionine in vitamin B 6 deficiency: observations on cystathioninuria. ( 5523420 )	Sturman JA...Gaull GE	1970
36	Cystathioninuria in children with neuroblastoma with and without metastasis. ( 5422742 )	von Studnitz W	1970
37	Cystathioninuria and behavioral development in a marasmic infant. ( 5436631 )	McLaren DS...Abu-Feisal NH	1970
38	A case of familial cystathioninuria with goiter and some anomalies. ( 5468424 )	Nishikawa M...Nasako Y	1970
39	Cystathioninuria and B6 dependency. ( 5262009 )	Frimpter GW...Andelman RJ	1969
40	Secondary cystathioninuria. ( 5385504 )	von Studnitz W	1969
41	Cystathioninuria in a patient with cystinuria. ( 5788464 )	Frimpter GW	1969
42	Cystathioninuria in hepatoblastoma. ( 4301463 )	Vo?te PA...Wadman SK	1968
43	Cystathioninuria in patients with neuroblastoma or ganglioneuroblastoma. Its correlation to vanilmandelic acid excretion and its value in diagnosis and therapy. ( 5212308 )	Geiser CF...Efron ML	1968
44	Cystathioninuria in two healty siblings. ( 5637757 )	Perry TL...Israels S	1968
45	Cystathioninuria. ( 5640533 )	Finkelstein JD...Laster L	1968
46	Cystathioninuria and renal iminoglycinuria in a pedigree. ( 5644557 )	Whelan DT...Scriver CR	1968
47	N-acetylcystathionine: a new urinary amino-acid in congenital cystathioninuria. ( 5659645 )	Perry TL...Finch CA	1968
48	Cystathioninuria accompanying necrotizing encephalomyelopathy of childhood. ( 5690401 )	Weil ML...Menkes J	1968
49	Cystathioninuria not associated with vitamin B6 dependency: a probably new type of cystathioninuria. ( 5707897 )	Tada K...Nakagawa H	1968
50	Cystathioninuria. ( 4289134 )	Shaw KN...Donnell GN	1967

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Genes for Cystathioninuria

Genes related to Cystathioninuria (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CTH	Cystathionine Gamma-Lyase	Protein Coding	1717.23	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	12574942 20584029 12574942 (more) 15887277 15151507
2	DGUOK	Deoxyguanosine Kinase	Protein Coding	22.03	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
3	APC2	APC Regulator Of WNT Signaling Pathway 2	Protein Coding	15.89	DISEASES inferred ¹⁵
4	ASNS	Asparagine Synthetase (Glutamine-Hydrolyzing)	Protein Coding	15.04	DISEASES inferred ¹⁵
5	PEPD	Peptidase D	Protein Coding	14.62	DISEASES inferred ¹⁵
6	NR1H4	Nuclear Receptor Subfamily 1 Group H Member 4	Protein Coding	13.73	DISEASES inferred ¹⁵
7	CNR1	Cannabinoid Receptor 1	Protein Coding	13.63	DISEASES inferred ¹⁵
8	NCF2	Neutrophil Cytosolic Factor 2	Protein Coding	13.17	DISEASES inferred ¹⁵
9	SERPINA1	Serpin Family A Member 1	Protein Coding	13.15	DISEASES inferred ¹⁵
10	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	13.04	DISEASES inferred ¹⁵
11	CBSL	Cystathionine-Beta-Synthase Like	Protein Coding	5.58	DISEASES inferred ¹⁵
12	TXN	Thioredoxin	Protein Coding	3.82	DISEASES inferred ¹⁵

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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

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Expression for Cystathioninuria

Search GEO for disease gene expression data for Cystathioninuria.

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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

Pathways related to Cystathioninuria according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Glucose / Energy Metabolism ⁴	11.75	CNR1 CTH MTHFR TXN
2	Selenium Micronutrient Network ¹ Show member pathways Folate Metabolism ¹ Metabolism of ingested MeSeO2H into MeSeH ⁶⁷ thioredoxin pathway ¹ Vitamin B12 Metabolism ¹	11.67	CTH MTHFR TXN
3	Carbon metabolism ³⁸ Show member pathways 2-Oxocarboxylic acid metabolism ³⁸ Biosynthesis of amino acids ³⁸ formaldehyde oxidation ¹	11.25	ASNS CBSL CTH MTHFR
4	Detoxification of Reactive Oxygen Species ⁶⁷ Show member pathways Oxidative Stress Regulatory Pathway (Erythrocyte) ⁶² reactive oxygen species degradation ¹	11.06	NCF2 TXN
5	Glycine, serine and threonine metabolism ³⁸ Show member pathways glycine betaine degradation ¹ superpathway of choline degradation to L-serine ¹	10.97	CBSL CTH

Sources

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

Sources for Cystathioninuria

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Cystathioninuria (CSTNU)

Aliases & Classifications for Cystathioninuria

MalaCards integrated aliases for Cystathioninuria:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cystathioninuria

Related Diseases for Cystathioninuria

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

Graphical network of the top 20 diseases related to Cystathioninuria:

Symptoms & Phenotypes for Cystathioninuria

Human phenotypes related to Cystathioninuria:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Cystathioninuria:

Drugs & Therapeutics for Cystathioninuria

Cochrane evidence based reviews: gamma-cystathionase deficiency

Genetic Tests for Cystathioninuria

Genetic tests related to Cystathioninuria:

Anatomical Context for Cystathioninuria

MalaCards organs/tissues related to Cystathioninuria:

Publications for Cystathioninuria

Articles related to Cystathioninuria:

Genes for Cystathioninuria

Genes related to Cystathioninuria (1 elite genes):

Variations for Cystathioninuria

UniProtKB/Swiss-Prot genetic disease variations for Cystathioninuria:

ClinVar genetic disease variations for Cystathioninuria:

Expression for Cystathioninuria

Pathways for Cystathioninuria

Pathways related to Cystathioninuria according to KEGG:

Pathways related to Cystathioninuria according to GeneCards Suite gene sharing:

GO Terms for Cystathioninuria

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

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

Sources for Cystathioninuria