ONTOLOGY REPORT - ANNOTATIONS


Term:Andersen-Tawil syndrome
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Accession:DOID:0050434 term browser browse the term
Definition:A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.
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;   RDO:0004212
 xref: GARD:9453;   ORDO:37553
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Andersen-Tawil syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj2 potassium voltage-gated channel subfamily J member 2 JBrowse link 10 99,429,337 99,442,520 RGD:7240710
RGD:8554872
RGD:11554173
G Kcnj5 potassium voltage-gated channel subfamily J member 5 JBrowse link 8 33,435,493 33,463,410 RGD:8554872

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  disease 14875
    syndrome 4220
      long QT syndrome 176
        Andersen-Tawil syndrome 2
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal dominant disease 1098
                Andersen-Tawil syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.