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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Andersen-Tawil syndrome
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Accession:DOID:0050434 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. (DO)
Synonyms:exact_synonym: ATS;   Andersen cardiodysrhythmic periodic paralysis;   Andersen cardiodysrythmic periodic paralysis;   Andersen syndrome;   LQT7;   long QT syndrome 7;   potassium-sensitive cardiodysrhythmic type;   potassium-sensitive cardiodysrhythmic type periodic paralysis;   potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
 primary_id: MESH:D050030
 alt_id: OMIM:170390
 xref: GARD:9453;   NCI:C84559;   ORDO:37553
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Andersen-Tawil syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Andersen Tawil syndrome
ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
ClinVar Annotator: match by OMIM:170390
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Andersen Syndrome
PMID:11371347 PMID:11841151 PMID:11861044 PMID:12045162 PMID:12086641 PMID:12148092 PMID:12163457 PMID:12689820 PMID:12796536 PMID:12909315 PMID:14522976 PMID:15757667 PMID:15831539 PMID:15851159 PMID:15852530 PMID:15911703 PMID:15922306 PMID:16217063 PMID:16419128 PMID:16533896 PMID:16541386 PMID:16571646 PMID:16818210 PMID:16834334 PMID:17074642 PMID:17074643 PMID:17119796 PMID:17211524 PMID:17221872 PMID:17324964 PMID:17341397 PMID:17399642 PMID:17399643 PMID:17568571 PMID:17582433 PMID:17655675 PMID:18313615 PMID:18452873 PMID:18554214 PMID:19041665 PMID:19111761 PMID:19201608 PMID:19570891 PMID:19931173 PMID:20382953 PMID:20647529 PMID:20713726 PMID:21493816 PMID:22002906 PMID:22186697 PMID:22286118 PMID:22581653 PMID:22589293 PMID:22806368 PMID:23516313 PMID:23595086 PMID:23631430 PMID:23644778 PMID:23867365 PMID:24025405 PMID:24033266 PMID:24047492 PMID:24211314 PMID:24383070 PMID:24561538 PMID:24721648 PMID:24861851 PMID:25284084 PMID:25410959 PMID:25415519 PMID:25741868 PMID:25847018 PMID:26230511 PMID:26322597 PMID:26467025 PMID:26937109 PMID:27145478 PMID:27920829 PMID:28003625 PMID:28024840 PMID:28341588 PMID:28492532 PMID:28501311 PMID:29017447 PMID:29874177 PMID:30516834 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Andersen Syndrome
ClinVar Annotator: match by term: Andersen Tawil syndrome
ClinVar PMID:20560207 PMID:21311022 PMID:22203740 PMID:24574546 PMID:25741868 PMID:28492532 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      long QT syndrome 249
        Andersen-Tawil syndrome 2
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                Andersen-Tawil syndrome 2
paths to the root