| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (17.5%) |
27410460 |
Surgical treatment of megaduodenum in familial visceral myopathy - report of a case and review of the literature. Papis D, Marangoni G. Acta Chir Belg. 2016;116(5):305-308. |
| Vomiting Myopathy | ||
| Duodenum Fetal Diseases Follow-Up Studies Health Risk Assessment Homo sapiens Intestinal Pseudo-Obstruction Male Rare Diseases Roux-en-Y Anastomosis Severity of Illness Index Urinary Bladder Young Adult | ||
| 1 (17.5%) |
22827765 |
An adult case of midgut volvulus in familial visceral myopathy. Nakajima T, Matsuhashi N, Nara S, Nakajima A, Imura J, Kihara A, Murata K, Fukushima J, Horiuchi H. Pathol Int. 2012;62(8):554-8. |
| Intestinal malrotation Myopathy | ||
| Females Genetic Predisposition to Disease Homo sapiens Intestinal Pseudo-Obstruction Intestinal Volvulus Intestines Middle Aged Myocytes, Smooth Muscle | ||
| 1 (17.5%) |
19098683 |
Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscle. Sipponen T, Karikoski R, Nuutinen H, Markkola A, Kaitila I. J Clin Gastroenterol. 2009;43(5):437-43. |
| Myopathy | ||
| rs587777384 | ||
| Abdominal Pain Actins Adult Child Disease Progression Endoscopy, Gastrointestinal Females Fibrosis Homo sapiens Immunohistochemistry Inclusion Bodies Intestinal Pseudo-Obstruction Intestines Magnetic Resonance Imaging Male Middle Aged X-Ray Computed Tomography Young Adult | ||
| 1 (17.5%) |
14638363 |
Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett's esophagus, and cardiac abnormalities. Mungan Z, Akyuz F, Bugra Z, Yonall O, Ozturk S, Acar A, Cevikbas U. Am J Gastroenterol. 2003;98(11):2556-60. |
| Myopathy | ||
| rs775266057 | ||
| Adult Barrett Esophagus Congenital Heart Defects Duodenum Females Health Risk Assessment Homo sapiens Immunohistochemistry Intestinal Pseudo-Obstruction Male Megacolon | ||
| 1 (17.5%) |
9280429 |
[Familial visceral myopathy]. Gimenez A, Pinero A, Robles R, Navarro N, Martinez LF, Ortiz MA, Minguez M, Benages A, Bermejo J, Parrilla P. Rev Esp Enferm Dig. 1997;89(5):391-7. |
| Myopathy | ||
| Homo sapiens Intestinal Pseudo-Obstruction Male | ||
| 1 (17.5%) |
9051881 |
A first report of familial visceral myopathy with additional chylous ascites in two siblings. Jatzko G, Lisborg P, Siebert F, Denk H, Klimpfinger M. Scand J Gastroenterol. 1997;32(2):187-90. |
| Ascites Myopathy | ||
| Chylothorax Chylous Ascites Fatal Outcome Females Homo sapiens Intestinal Pseudo-Obstruction Male Nuclear Family | ||
| 1 (17.5%) |
8432486 |
Familial visceral myopathy associated with a mitochondrial myopathy. Lowsky R, Davidson G, Wolman S, Jeejeebhoy KN, Hegele RA. Gut. 1993;34(2):279-83. |
| Ophthalmoplegia Myopathy | ||
| Adult Base Sequence DNA, Mitochondrial Duodenal Diseases Duodenum Homo sapiens Intestinal Pseudo-Obstruction Male Mitochondrial Myopathies Molecular Sequence Data | ||
| 1 (17.5%) |
2806997 |
Familial visceral myopathy: a family with at least six involved members. Rodrigues CA, Shepherd NA, Lennard-Jones JE, Hawley PR, Thompson HH. Gut. 1989;30(9):1285-92. |
| Weight loss Myopathy | ||
| Adult Females Homo sapiens Intestinal Pseudo-Obstruction | ||
| 1 (17.5%) |
1450855 |
Familial hollow visceral myopathy with varying urological manifestations. Higman D, Peters P, Stewart M. Br J Urol. 1992;70(4):435-8. |
| Myopathy | ||
| Adult Females Homo sapiens Intestinal Pseudo-Obstruction Male Middle Aged Urologic Diseases | ||
| 1 (17.5%) |
717927 |
A familial visceral myopathy. Faulk DL, Anuras S, Gardner GD, Mitros FA, Summers RW, Christensen J. Ann Intern Med. 1978;89(5 Pt 1):600-6. |
| Megacystis Myopathy | ||
| Adult Duodenum Females Gastrointestinal Diseases Homo sapiens Intestinal Obstruction Male Middle Aged Muscle Contraction Myopathy Pathological Dilatation Urologic Diseases |
Total: 23
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000021 | Megacystis | Very frequent (99-80%) |
| HP:0000072 | Hydroureter | Very frequent (99-80%) |
| HP:0000076 | Vesicoureteral reflux | Very frequent (99-80%) |
| HP:0003270 | Abdominal distention | Frequent (79-30%) |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000311 | Round face | Occasional (29-5%) |
| HP:0000337 | Broad forehead | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Occasional (29-5%) |
| HP:0000426 | Prominent nasal bridge | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000774 | Narrow chest | Occasional (29-5%) |
| HP:0000843 | Hyperparathyroidism | Occasional (29-5%) |
| HP:0001166 | Arachnodactyly | Occasional (29-5%) |
| HP:0001387 | Joint stiffness | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0001798 | Anonychia | Occasional (29-5%) |
| HP:0002251 | Aganglionic megacolon | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0003363 | Abdominal situs inversus | Occasional (29-5%) |
| HP:0100490 | Camptodactyly of finger | Occasional (29-5%) |
Total: 8
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0004389 | Intestinal pseudo-obstruction | 2 |
| HP:0001541 | Ascites | 1 |
| HP:0002202 | Pleural effusion | 1 |
| HP:0002580 | Volvulus | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002664 | Neoplasm | 1 |
| HP:0030731 | Carcinoma | 1 |
| HP:0100806 | Sepsis | 1 |