Andersen cardiodysrhythmic periodic paralysis

Preferred Label : Andersen cardiodysrhythmic periodic paralysis;

CISMeF acronym : ATS; LQT7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Periodic paralysis, potassium-sensitive cardiodysrhythmic type; ATS; Andersen-tawil syndrome; Long qt syndrome 7; Andersen syndrome; LQT7;

Description : Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium channel, inwardly rectifying, subfamily J, member 2 gene (KCNJ2, 600681.0001);

Laboratory abnormalities : Hypokalemia during periodic paralysis (most patients);

Prefixed ID : #170390;

Details

Origin ID

170390;

UMLS CUI

C1563715;

Automatic exact mappings (from CISMeF team)
- Anti-Thymocyte Globulin [NCIt concept]
- Arizona Tobacco Survey [NCIt concept]
- Arterial tortuosity syndrome [ORDO Disease]
- Atypical Timothy syndrome [ORDO Disease]
- BTK wt Allele [NCIt concept]
- COL4A5 wt Allele [NCIt concept]
- antithyroid agents [MeSH Descriptor]
- atherosclerosis [MeSH Descriptor]
- potassium inwardly rectifying channel subfamily J member 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Andersen Tawil syndrome (disorder) [SNOMED CT concept]
- Andersen-Tawil syndrome [DO Concept]
- Andersen-Tawil syndrome [MedDRA Preferred Term]
- Andersen-Tawil syndrome [ORDO Disease]
- Long QT Syndrome 7 [NCIt concept]
- Long QT syndrome 7 [MedDRA LLT]
- Long QT syndrome type 7 [ICD-11 More detail]
- andersen syndrome [MeSH Descriptor]
- andersen syndrome [MeSH concept]
- long QT syndrome type 7 [Disease (Nov.)]
DO Cross reference
- Andersen-Tawil syndrome [DO Concept]
False automatic mappings
- At - dosing instruction fragment (qualifier value) [SNOMED CT concept]
- At increased risk for noncompliance (finding) [SNOMED CT concept]
- Austria [NCIt concept]
Genes related to phenotype
- Potassium channel, inwardly rectifying, subfamily j, member 2 [OMIM gene]
HPO term(s)
- Antegonial notching of mandible [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bidirectional ventricular ectopy [HPO term]
- Blepharophimosis [HPO term]
- Brachydactyly [HPO term]
- Broad forehead [HPO term]
- Bulbous nasal tip [HPO term]
- Bulbous nose [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Clinodactyly of the 5th toe [HPO term]
- Delayed eruption of permanent teeth [HPO term]
- Delayed skeletal maturation [HPO term]
- Depression [HPO term]
- Enamel hypoplasia [HPO term]
- Facial asymmetry [HPO term]
- Growth abnormality [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypokalemia [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Joint laxity [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Mild facial asymmetry [HPO term]
- Oligodontia [HPO term]
- Palpitations [HPO term]
- Periodic hypokalemic paresis [HPO term]
- Periodic paralysis [HPO term]
- Persistence of primary teeth [HPO term]
- Preauricular pit [HPO term]
- Prolonged QT interval [HPO term]
- Prominent U wave [HPO term]
- Prominent frontal sinuses [HPO term]
- Scapular winging [HPO term]
- Scoliosis [HPO term]
- Short foot [HPO term]
- Short mandibular rami [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short palm [HPO term]
- Short palpebral fissure [HPO term]
- Short phalanx of finger [HPO term]
- Slender long bone [HPO term]
- Small feet [HPO term]
- Small hand [HPO term]
- Specific learning disability [HPO term]
- Syncope [HPO term]
- Thin upper lip vermilion [HPO term]
- Toe syndactyly [HPO term]
- Triangular face [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Andersen-Tawil syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Andersen Tawil syndrome (disorder) [SNOMED CT concept]
- Andersen-Tawil syndrome [ORDO Disease]
- Andersen-Tawil syndrome [DO Concept]
- Andersen-Tawil syndrome [MedDRA Preferred Term]
- Long QT Syndrome 7 [NCIt concept]
- Long QT syndrome 7 [MedDRA LLT]
- andersen syndrome [MeSH Descriptor]
- andersen syndrome [MeSH concept]
- long QT syndrome type 7 [Disease (Nov.)]

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