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Visceral neuropathy, familial

MedGen UID:
540202
•Concept ID:
C0266834
•
Disease or Syndrome
Synonyms: Argyrophil myenteric plexus deficiency of; Intestinal pseudoobstruction due to neuronal disease; Pseudoobstruction chronic idiopathic intestinal neuronal type
SNOMED CT: Familial visceral neuropathy (20725005)
 
Monarch Initiative: MONDO:0023961
OMIM® Phenotypic series: PS243180

Professional guidelines

PubMed

Diagnosis and management of chronic intestinal pseudo-obstruction syndromes in infancy and childhood.
Ament ME, Vargas J
Arq Gastroenterol 1988 Jul-Sep;25(3):157-65. PMID: 3076360

Recent clinical studies

Diagnosis

Gastrointestinal: A rare case of concomitant type III achalasia and chronic idiopathic intestinal pseudo-obstruction.
Sato H, Abe H, Nagashima A, Yokoyama J, Terai S
J Gastroenterol Hepatol 2018 Mar;33(3):559. doi: 10.1111/jgh.13980. PMID: 29469232
Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.
Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Järvinen H, Laing NG, Lappalainen P, Aaltonen LA, Tuupanen S
Gastroenterology 2012 Dec;143(6):1482-1491.e3. Epub 2012 Sep 6 doi: 10.1053/j.gastro.2012.08.045. PMID: 22960657

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