Neurology · Neurology / Channelopathies; Cardiology
Andersen–Tawil syndrome
also: Andersen–Tawil syndrome
Periodic paralysis with cardiac arrhythmia and dysmorphic features.
- Specialty
- Neurology
- Subspecialty
- Neurology / Channelopathies; Cardiology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, usually onset in first or second decade
- Gene(s) involved
- KCNJ2, KCNJ5
- Alternative names & eponyms
- Andersen–Tawil syndrome
Etiology & mechanism
Loss-of-function mutation in the Kir2.1 inward rectifier potassium channel.
Gene(s) involved (2)
Symptoms & signs (6)
In plain terms, someone with Andersen–Tawil syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Noonan syndrome
low-set ears, short stature
1 shared
3M syndrome
short stature
1 shared
Aarskog–Scott syndrome
short stature
1 shared
Bloom syndrome
short stature
1 shared
Börjeson–Forssman–Lehmann syndrome
short stature
1 shared
Cardio-facio-cutaneous syndrome
short stature
1 shared
Coffin–Lowry syndrome
short stature
1 shared
Costello syndrome
short stature
1 shared
Diamond–Blackfan anemia
short stature
1 shared
Episodic weakness syndrome
episodic weakness
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