Table 3.

Inherited Disorders with Gastrointestinal/Genitourinary Visceral Myopathy in the Differential Diagnosis for ACTG2 Visceral Myopathy

GenePhenotypeMOIGI/GU InvolvementOther Features
ACTA2 Multisystem smooth-muscle dysfunction syndrome (OMIM 613834) (See also Heritable Thoracic Aortic Disease Overview.)ADHypotonic bladder, cryptorchidism, malrotation & hypoperistalsis of the gut 1; prune-belly sequence may be associated. 2Thoracic aortic aneurysms & aortic dissections, PDA, stenosis & dilatation of cerebral vessels, mydriasis, periventricular white matter hyperintensities on MRI; pulmonary hypertension
CHRM3 Prune belly syndrome (OMIM 100100)ARPrune belly syndrome w/distended, areflexic/ hyporeflexic bladder; hydroureter, hydronephrosis; cryptorchidism; constipation 3Posterior urethral valves
CHRNA3 CAKUT & autonomic dysfunction (OMIM 191800)ARImpaired bladder innervation; thick bladder wall; neurogenic vesicoureteral reflux w/hydroureter, hydronephrosis; secondary small, cystic kidneys & chronic kidney diseaseHypospadias
EDNRB
EDN3
SOX10 		Waardenburg syndrome type IV (OMIM 131244, 613265, 602229)AD
AR		Hirschsprung diseasePigmentary abnormalities, hearing loss
FLNA FLNA-related periventricular nodular heterotopia XLIntestinal pseudoobstructionFemales present w/seizures at age 14-15 yrs; normal-to-borderline intelligence; ↑ risk for cardiovascular disease, stroke, & other vascular/coagulation issues. Males most often show early lethality.
LMOD1 MMIHS ARClassic features of MMIHS
MYH11 MMIHS ARIn 1 person each, overlapping features of:
  • MMIHS & prune belly sequence
  • MMIHS & MSMDS
PDA in 1 child 4
MYL9 MMIHS ARMydriasis
MYLK MMIHS AR
RAD21 Mungan syndrome (OMIM 611376)ARBarrett esophagus, megaduodenumCardiac abnormalities
SGOL1 Chronic atrial & intestinal dysrhythmia (OMM 616201)ARIntestinal pseudoobstructionSick sinus syndrome, atrial dysrhythmias 5
TYMP MNGIE ARProgressive GI dysmotility manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain &/or distention, diarrheaCachexia, ptosis, external ophthalmoplegia, sensorimotor neuropathy (usually mixed axonal & demyelinating)

AD = autosomal dominant; AR = autosomal recessive; CAKUT = congenital anomalies of the kidney and urinary tract; GI = gastrointestinal; GU = genitourinary; MMIHS = megacystis-microcolon-intestinal hypoperistalsis syndrome; MNGIE = mitochondrial neurogastrointestinal encephalopathy; MSMDS = multisystemic smooth muscle dysfunction syndrome; MOI = mode of inheritance; PDA = patent ductus arteriosus; XL = X-linked

1.
2.
3.
4.
5.

From: ACTG2 Visceral Myopathy

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.