eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cystathioninuria | ||||
| Disease ID | 921 |
|---|---|
| Disease | cystathioninuria |
| Definition | An elevated urinary concentration of cystathionine. [HPO:probinson] |
| Synonym | cth - cystathioninuria cystathioninuria (disorder) cystathioninuria, nos high urine cystathionine levels |
| Orphanet | |
| OMIM | |
| UMLS | C0220993 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) CTH | 1p31.1 |
| Disease ID | 921 |
|---|---|
| Disease | cystathioninuria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0003153 | High urine cystathionine levels |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 921 |
|---|---|
| Disease | cystathioninuria |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C1839611 | n syndrome |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| CTH | p.T67I | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893633 | 15887277 | 1491 | CTH | umls:C0220993 | BeFree | Each affected child was homozygous for the novel DGUOK p.D255Y mutation, but had no CTH mutation, indicating that the hepatocerebral form of MDS might be associated with secondary cystathioninuria. | 0.440814326 | 2005 | DGUOK;DGUOK-AS1 | 2 | 73958201 | G | T |
| rs104893633 | 15887277 | 23584 | VSIG2 | umls:C0220993 | BeFree | Each affected child was homozygous for the novel DGUOK p.D255Y mutation, but had no CTH mutation, indicating that the hepatocerebral form of MDS might be associated with secondary cystathioninuria. | 0.000542884 | 2005 | DGUOK;DGUOK-AS1 | 2 | 73958201 | G | T |
| rs28941785 | 18476726 | 1491 | CTH | umls:C0220993 | UNIPROT | Recently, several mutations in CGL have been described in patients with cystathioninuria, a rare but poorly understood genetic disease. | 0.440814326 | 2008 | CTH | 1 | 70415987 | C | A,T |
| rs28941785 | NA | 1491 | CTH | umls:C0220993 | CLINVAR | NA | 0.440814326 | NA | CTH | 1 | 70415987 | C | A,T |
| rs28941785 | 20584029 | 1491 | CTH | umls:C0220993 | BeFree | Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. | 0.440814326 | 2010 | CTH | 1 | 70415987 | C | A,T |
| rs28941786 | 18476726 | 1491 | CTH | umls:C0220993 | UNIPROT | Recently, several mutations in CGL have been described in patients with cystathioninuria, a rare but poorly understood genetic disease. | 0.440814326 | 2008 | CTH | 1 | 70430388 | C | G |
| rs28941786 | NA | 1491 | CTH | umls:C0220993 | CLINVAR | NA | 0.440814326 | NA | CTH | 1 | 70430388 | C | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003153 | Cystathioninuria | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| Disease ID | 921 |
|---|---|
| Disease | cystathioninuria |
| Case | (Waiting for update.) |