National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Megaduodenum and/or megacystis



Other Names:
Pseudoobstruction idiopathic intestinal; Visceral myopathy familial
Categories:

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2604

Definition
Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

Visit the Orphanet disease page for more resources.
Last updated: 1/1/2013

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Hydroureter 0000072
Megacystis 0000021
Vesicoureteral reflux 0000076
30%-79% of people have these symptoms
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ]
0003270
Aplasia/Hypoplasia of the abdominal wall musculature
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
[ more ]
0010318
5%-29% of people have these symptoms
Abdominal situs inversus 0003363
Abnormality of cardiovascular system morphology 0030680
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Anonychia
Absent nails
Aplastic nails
[ more ]
0001798
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
0000463
Arachnodactyly
Long slender fingers
Spider fingers
[ more ]
0001166
Broad forehead
Increased width of the forehead
Wide forehead
[ more ]
0000337
Camptodactyly of finger
Permanent flexion of the finger
0100490
Cleft palate
Cleft roof of mouth
0000175
Hyperparathyroidism
Elevated blood parathyroid hormone level
0000843
Joint stiffness
Stiff joint
Stiff joints
[ more ]
0001387
Low-set, posteriorly rotated ears 0000368
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Narrow chest
Low chest circumference
Narrow shoulders
[ more ]
0000774
Pancreatitis
Pancreatic inflammation
0001733
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
0000426
Round face
Circular face
Round facial appearance
Round facial shape
[ more ]
0000311
Umbilical hernia 0001537
Percent of people who have these symptoms is not available through HPO
Abdominal pain
Pain in stomach
Stomach pain
[ more ]
0002027
Autosomal dominant inheritance 0000006
Constipation 0002019
Diarrhea
Watery stool
0002014
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
0002015
Hydronephrosis 0000126
Intestinal pseudo-obstruction 0004389
Malnutrition 0004395
Microcolon 0004388
Polyhydramnios
High levels of amniotic fluid
0001561
Urinary retention 0000016
Vomiting
Throwing up
0002013
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Megaduodenum and/or megacystis. Click on the link to view a sample search on this topic.

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