PedAM

Pediatric Disease Annotations & Medicines


	timothy syndrome

Disease ID	404
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	ORPHANET:65283
OMIM	OMIM:601005
DOID	DOID:0060173
UMLS	C1832916
SNOMED-CT	SNOMEDCT_US_2016_09_01:699256006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0004352 \| autism \| 2
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) CACNA1C \| 775 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:36) 3784 \| KCNQ1 \| DISEASES 3759 \| KCNJ2 \| DISEASES 54795 \| TRPM4 \| DISEASES 845 \| CASQ2 \| DISEASES 3757 \| KCNH2 \| DISEASES 775 \| CACNA1C \| DISEASES 3782 \| KCNN3 \| DISEASES 6872 \| TAF1 \| DISEASES 9992 \| KCNE2 \| DISEASES 11167 \| FSTL1 \| DISEASES 7001 \| PRDX2 \| DISEASES 4902 \| NRTN \| DISEASES 6323 \| SCN1A \| DISEASES 154 \| ADRB2 \| DISEASES 9495 \| AKAP5 \| DISEASES 7173 \| TPO \| DISEASES 783 \| CACNB2 \| DISEASES 6330 \| SCN4B \| DISEASES 6331 \| SCN5A \| DISEASES 8912 \| CACNA1H \| DISEASES 3753 \| KCNE1 \| DISEASES 857 \| CAV1 \| DISEASES 859 \| CAV3 \| DISEASES 781 \| CACNA2D1 \| DISEASES 5725 \| PTBP1 \| DISEASES 287 \| ANK2 \| DISEASES 157680 \| VPS13B \| DISEASES 23607 \| CD2AP \| DISEASES 773 \| CACNA1A \| DISEASES 477 \| ATP1A2 \| DISEASES 779 \| CACNA1S \| DISEASES 6262 \| RYR2 \| DISEASES 778 \| CACNA1F \| DISEASES 151531 \| UPP2 \| DISEASES 4908 \| NTF3 \| DISEASES 58155 \| PTBP2 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) CACNA1C \| 12p13.33

Disease ID	404
Disease	timothy syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:2) HP:0001159 \| Webbed fingers or toes HP:0001657 \| Prolonged QT interval
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0000717 \| Autism \| 2 HP:0002721 \| Immunodeficiency \| 1 HP:0000164 \| Abnormality of the teeth \| 1 HP:0001159 \| Webbed fingers or toes \| 1 HP:0006101 \| Finger syndactyly \| 1

Disease ID	404
Disease	timothy syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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