Details of Disease

Disease Name

Timothy syndrome

long QT syndrome with syndactyly; long QT syndrome type 8; long QT syndrome 8; LQT8; TS; TIMOTHY syndrome; long QT syndrome-syndactyly syndrome; Timothy syndrome

Definition

Timothy syndrome is a multi-system disorder characterized by 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.

Disease Hierarchy

DISRNNCY: Familial long QT syndrome

DIS3HIWD: Autosomal dominant disease

DISBXBZP: Timothy syndrome

Disease Identifiers

MONDO ID

MONDO_0010979

MESH ID

C536962

UMLS CUI

C1832916

OMIM ID

601005

MedGen ID

331395

Orphanet ID

65283

SNOMED CT ID

1230096008

General Information of Disease (ID: DISBXBZP)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA1F	TTJ0SO4	Limited	Biomarker	[1]
KCNJ2	TTH7UO3	Strong	Biomarker	[2]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CACNA1C	DTAIV1Z	Definitive	Autosomal dominant	[3]
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This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CD8A	OTDWQJXK	Limited	Biomarker	[4]
GRHL3	OT1V4ZEH	Limited	Biomarker	[5]
HEXD	OTTMQKLM	Limited	Biomarker	[6]
ING2	OT6H0EWF	Limited	Biomarker	[4]
PEX13	OTXUAYEW	Limited	Genetic Variation	[7]
RPGRIP1L	OT6Z069I	Limited	Biomarker	[8]
SHOX	OTE0YZJO	Limited	Biomarker	[9]
AMELX	OTIN26MM	Strong	Biomarker	[10]
CACNA1C	OT6KFNMS	Definitive	Autosomal dominant	[3]
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⏷ Show the Full List of 9 DOT(s)

References

1	Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.Pflugers Arch. 2010 Jul;460(2):361-74. doi: 10.1007/s00424-010-0800-x. Epub 2010 Mar 7.
2	TRPM4 non-selective cation channel variants in long QT syndrome.BMC Med Genet. 2017 Mar 18;18(1):31. doi: 10.1186/s12881-017-0397-4.
3	Expanding the phenotype of CACNA1C mutation disorders. Mol Genet Genomic Med. 2021 Jun;9(6):e1673. doi: 10.1002/mgg3.1673. Epub 2021 Apr 1.
4	Tactile stimulation partially prevents neurodevelopmental changes in visual tract caused by early iron deficiency.Brain Res. 2017 Feb 15;1657:130-139. doi: 10.1016/j.brainres.2016.12.003. Epub 2016 Dec 9.
5	Improved crop yield and reduced nitrate nitrogen leaching with straw return in a rice-wheat rotation of Ningxia irrigation district.Sci Rep. 2018 Jun 21;8(1):9458. doi: 10.1038/s41598-018-27776-5.
6	Absence of metabolic cross-correction in Tay-Sachs cells: implications for gene therapy.J Biol Chem. 2002 Jun 7;277(23):20177-84. doi: 10.1074/jbc.M106164200. Epub 2002 Mar 28.
7	Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder.Pediatr Res. 2005 Aug;58(2):263-9. doi: 10.1203/01.PDR.0000169984.89199.69. Epub 2005 Jul 8.
8	Nipple-Areolar Complex Position in Female-to-Male Transsexuals After Non-skin-excisional Mastectomy: A Case-Control Study in Japan.Aesthetic Plast Surg. 2019 Oct;43(5):1195-1203. doi: 10.1007/s00266-019-01409-2. Epub 2019 May 29.
9	Phenotypes Associated with SHOX Deficiency.J Clin Endocrinol Metab. 2001 Dec;86(12):5674-80. doi: 10.1210/jcem.86.12.8125.
10	Refined quantitative fluorescent PCR of Y-chromosome DNA sequences mosaics in Turner's syndrome patients--alternative to real-time PCR.J Biochem Biophys Methods. 2004 Aug 31;60(2):151-62. doi: 10.1016/j.jbbm.2004.05.004.