eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| timothy syndrome | ||||
| Disease ID | 535 |
|---|---|
| Disease | timothy syndrome |
| Definition | Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. |
| Synonym | long qt syndrome 8 long qt syndrome with syndactyly timothy syndrome classic type timothy syndrome type 1 timothy syndrome type 1 (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1832916 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:19) 287 | ANK2 | 2.731 | DISEASES 477 | ATP1A2 | 2.222 | DISEASES 773 | CACNA1A | 1.327 | DISEASES 778 | CACNA1F | 2.268 | DISEASES 8912 | CACNA1H | 2.526 | DISEASES 779 | CACNA1S | 2.435 | DISEASES 781 | CACNA2D1 | 3.231 | DISEASES 857 | CAV1 | 2.852 | DISEASES 859 | CAV3 | 1.901 | DISEASES 23607 | CD2AP | 1.317 | DISEASES 3753 | KCNE1 | 3.608 | DISEASES 4908 | NTF3 | 1.639 | DISEASES 5725 | PTBP1 | 2.217 | DISEASES 58155 | PTBP2 | 2.779 | DISEASES 6262 | RYR2 | 1.652 | DISEASES 6330 | SCN4B | 3.324 | DISEASES 6331 | SCN5A | 3.096 | DISEASES 151531 | UPP2 | 4.085 | DISEASES 157680 | VPS13B | 2.247 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) CACNA1C | 12p13.33 |
| Disease ID | 535 |
|---|---|
| Disease | timothy syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0000717 | Autism | 2 HP:0001159 | Webbed fingers or toes | 1 HP:0002721 | Immunodeficiency | 1 HP:0000164 | Abnormality of the teeth | 1 HP:0006101 | Finger syndactyly | 1 |
| Disease ID | 535 |
|---|---|
| Disease | timothy syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| Timothy syndrome | CACNA1C | NM_199460, c.3497T>C (p.I166T) | doi:10.1038/gim.2015.186 |
| CACNA1C | p.G490R | 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:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs786205745 | NA | 775 | CACNA1C | umls:C1832916 | CLINVAR | NA | 0.566243163 | NA | CACNA1C | 12 | 2504538 | G | A,C |
| rs794727587 | NA | 775 | CACNA1C | umls:C1832916 | CLINVAR | NA | 0.566243163 | NA | CACNA1C | 12 | 2665600 | C | G |
| rs79891110 | 19074970 | 775 | CACNA1C | umls:C1832916 | BeFree | Timothy syndrome (TS) is a multiorgan dysfunction caused by a Gly to Arg substitution at position 406 (G406R) of the human CaV1.2 (L-type) channel. | 0.566243163 | 2009 | CACNA1C | 12 | 2504944 | G | A |
| rs79891110 | NA | 775 | CACNA1C | umls:C1832916 | CLINVAR | NA | 0.566243163 | NA | CACNA1C | 12 | 2504944 | G | A |
| rs79891110 | 21910241 | 775 | CACNA1C | umls:C1832916 | BeFree | All previously described cases of TS-1 are the result of a missense mutation in exon 8A (p.G406R), an alternatively spliced variant of the L-type calcium channel gene (Ca(v)1.2, CACNA1C). | 0.566243163 | 2011 | CACNA1C | 12 | 2504944 | G | A |
| rs79891110 | 23580742 | 775 | CACNA1C | umls:C1832916 | BeFree | Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2). | 0.566243163 | 2013 | CACNA1C | 12 | 2504944 | G | A |
| rs80315385 | 23580742 | 775 | CACNA1C | umls:C1832916 | BeFree | Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2). | 0.566243163 | 2013 | CACNA1C | 12 | 2504932 | G | A |
| rs80315385 | NA | 775 | CACNA1C | umls:C1832916 | CLINVAR | NA | 0.566243163 | NA | CACNA1C | 12 | 2504932 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001657 | Prolonged QT interval | MP:0003900 | shortened QT interval | decrease in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001159 | Syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001657 | Prolonged QT interval | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| Disease ID | 535 |
|---|---|
| Disease | timothy syndrome |
| Case | (Waiting for update.) |