Welcome to PhenoDis

Familial visceral myopathy

General Information (adopted from Orphanet):

Synonyms, Signs:	VISCERAL MYOPATHY, FAMILIAL Megaduodenum and/or megacystis Familial hollow visceral myopathy Hereditary hollow visceral myopathy
Number of Symptoms	42
OrphanetNr:	2604
OMIM Id:	155310
ICD-10:	G71.2 K56.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal dominant [Orphanet]
Age of onset:	All ages [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Congenital intestinal motility disorder
-Rare gastroenterologic disease
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000072)	Hydroureter	Very frequent [Orphanet]	146 / 7739
2	(HPO:0000076)	Vesicoureteral reflux		94 / 7739
3	(HPO:0000021)	Megacystis		7 / 7739
4	(HPO:0000079)	Abnormality of the urinary system	Very frequent [Orphanet]	88 / 7739
5	(HPO:0010956)	Fetal megacystis		5 / 7739
6	(HPO:0000126)	Hydronephrosis		119 / 7739
7	(HPO:0000174)	Abnormality of the palate	Occasional [Orphanet]	298 / 7739
8	(HPO:0000426)	Prominent nasal bridge	Occasional [Orphanet]	121 / 7739
9	(HPO:0000463)	Anteverted nares	Occasional [Orphanet]	305 / 7739
10	(HPO:0000277)	Abnormality of the mandible	Occasional [Orphanet]	394 / 7739
11	(HPO:0000337)	Broad forehead	Occasional [Orphanet]	116 / 7739
12	(HPO:0000252)	Microcephaly	Occasional [Orphanet]	832 / 7739
13	(HPO:0000311)	Round face	Occasional [Orphanet]	104 / 7739
14	(HPO:0000357)	Abnormal location of ears	Occasional [Orphanet]	328 / 7739
15	(HPO:0008772)	Aplasia/Hypoplasia of the external ear	Occasional [Orphanet]	67 / 7739
16	(HPO:0002251)	Aganglionic megacolon	Occasional [Orphanet]	78 / 7739
17	(HPO:0002015)	Dysphagia		301 / 7739
18	(HPO:0000843)	Hyperparathyroidism	Occasional [Orphanet]	17 / 7739
19	(HPO:0001387)	Joint stiffness	Occasional [Orphanet]	322 / 7739
20	(HPO:0100490)	Camptodactyly of finger	Occasional [Orphanet]	212 / 7739
21	(HPO:0011302)	Long palm	Occasional [Orphanet]	70 / 7739
22	(HPO:0000774)	Narrow chest	Occasional [Orphanet]	167 / 7739
23	(HPO:0001561)	Polyhydramnios		191 / 7739
24	(HPO:0003363)	Abdominal situs inversus	Occasional [Orphanet]	19 / 7739
25	(HPO:0002244)	Abnormality of the small intestine	Occasional [Orphanet]	12 / 7739
26	(HPO:0002013)	Vomiting		191 / 7739
27	(HPO:0001537)	Umbilical hernia	Occasional [Orphanet]	206 / 7739
28	(HPO:0002014)	Diarrhea		225 / 7739
29	(HPO:0002019)	Constipation		194 / 7739
30	(HPO:0010318)	Aplasia/Hypoplasia of the abdominal wall musculature	Frequent [Orphanet]	55 / 7739
31	(HPO:0001733)	Pancreatitis	rare [HPO:skoehler]	46 / 7739
32	(HPO:0100867)	Duodenal stenosis	Very frequent [Orphanet]	29 / 7739
33	(HPO:0004395)	Malnutrition		12 / 7739
34	(HPO:0004388)	Microcolon		5 / 7739
35	(HPO:0002247)	Duodenal atresia		13 / 7739
36	(HPO:0001804)	Hypoplastic fingernail	Occasional [Orphanet]	62 / 7739
37	(HPO:0030680)	Abnormality of cardiovascular system morphology	Occasional [Orphanet]	355 / 7739
38	(OMIM)	Normal ganglion cells		1 / 7739
39	(HPO:0011420)	Death	Frequent [Orphanet]	184 / 7739
40	(OMIM)	Thinning and extensive collagen replacement of hollow viscus longitudinal muscle layer		1 / 7739
41	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
42	(OMIM)	Esophageal motor dysfunction		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Weiss (1938) reported megaduodenum alone in 6 persons in 3 generations of a German family.

Tobenkin (1964) described megacystis with nonobstructive vesicoureteral reflux in a mother and her 3 daughters. The history of unilateral nephrectomy in ... Weiss (1938) reported megaduodenum alone in 6 persons in 3 generations of a German family. Tobenkin (1964) described megacystis with nonobstructive vesicoureteral reflux in a mother and her 3 daughters. The history of unilateral nephrectomy in the maternal grandmother suggested that 3 generations may have been affected. No comment on associated megaduodenum was made. Newton (1968) treated 2 black males who had megaduodenum. One of them also had megacystis and the father probably had megaduodenum. Marfanoid habitus was noted, which raised a question of the mucosal neuroma syndrome (162300). However, microscopic studies showed normal ganglia and presumably no evidence of neuroma. An unusual feature was intermittent bilateral parotid swelling, a feature that Newton (1968) stated had been described in persons with intestinal atony due to Chagas disease (Vieira, 1961). In a discussion included with the paper by Newton (1968), Oberhelman referred to a family with multiple cases of megaduodenum. Familial occurrence was noted in 2 instances by Maldonado et al. (1970). Schuffler and Pope (1977) studied a family of a 15-year-old girl with idiopathic intestinal pseudoobstruction. A 13-year-old brother, the mother, a maternal aunt and one of the aunt's children had mild dysphagia and esophageal motor dysfunction. The mother and the brother had flaccid bladder and bilateral ureteral reflux (193000), respectively. They suggested the designation 'hereditary hollow visceral myopathy.' Smooth muscle degeneration appears to be the basis of the abnormality. Faulk et al. (1978) described a kindred with at least 18 affected members. Sixteen had symptoms of chronic obstruction of the gastrointestinal and/or urinary tract. Two patients with megaduodenum on contrast studies were asymptomatic. Four had megacolon. Four had megacystis. Specimens from duodenum, jejunum, ileum, colon or urinary bladder in 5 patients showed thinning and extensive collagen replacement of the longitudinal muscle layer. Ganglion cells were normal by light and electron microscopy. Esophageal manometry performed in 3 patients showed decreased gastroesophageal sphincter pressures and absence of contractions in the smooth muscle segment of the esophagus. Among 27 cases of chronic intestinal pseudoobstruction, Schuffler et al. (1981) found 14 cases of progressive systemic sclerosis, 1 of sclerosing mesenteritis, 1 of jejunal diverticulosis, and 5 with no identifiable cause. Hollow visceral myopathy and visceral neuropathy were present in 4 and 2, respectively. The authors stated that these 2 forms are usually familial and that urologic involvement is sometimes present in the former. Their patients 19 and 20 with visceral neuropathy were a brother and sister of Welsh ancestry. Anuras et al. (1981) reviewed 10 reported families. One had degeneration of the myenteric plexus throughout the gastrointestinal tract (Schuffler et al., 1978). Five, which apparently represented a visceral myopathy, had degeneration and fibrosis of the intestine and bladder. In 3, intestinal morphology was normal. Within families, a wide range of severity was observed. Study of families of apparently sporadic cases often uncovered additional affected individuals who had represented a diagnostic enigma to their physicians. By virtue of early diagnosis through such family study, unnecessary laparotomy for presumed mechanical bowel obstruction can be avoided. Mitros et al. (1982) reported the pathologic findings of familial visceral myopathy in 14 members of 4 families. Smout et al. (1985) reported a man who presented with achalasia at age 28 years and urinary retention at age 32, and was discovered to have marked dilatation of the entire small intestine at operation for ureteroileocutaneostomy at age 33. Both smooth muscle and neuronal abnormalities were found. The eldest of the patient's 3 daughters had urinary retention and gastrointestinal symptoms. Ducastelle et al. (1986) described an affected 17-year-old girl whose brother had abnormal esophageal and anorectal manometry and whose father had died of fatal small intestinal occlusion without mechanical obstruction. The megacystis-microcolon-intestinal hypoperistalsis syndrome (249210) is a distinct disorder, inherited as an autosomal recessive. Jones et al. (1992) described visceral myopathy in 5 individuals in 4 successive generations with 3 instances of male-to-male transmission. The affected individuals included a 29-year-old physiotherapist whose problems began at age 9 with frequent urinary tract infections, her 28-year-old brother, and her 60-year-old father. Her grandfather had found it necessary to self-administer enemas daily; the great-grandfather survived to age 91, however.

Symptoms & Signs

	Field	Query
	Disease
	Symptom