Visceral neuropathy, familial, 2, autosomal recessive(VSCN2)

MedGen UID:: 1794160
•Concept ID:: C5561950
•: Disease or Syndrome

Synonyms:	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2

Gene (location): Gene(s) directly associated with this condition or phenotype.	ERBB2 (17q12)

Monarch Initiative:	MONDO:0030399
OMIM®:	619465

Definition

Autosomal recessive visceral neuropathy-2 (VSCN2) is characterized by intestinal dysmotility due to aganglionosis or hypoganglionosis of the colon. Patients also exhibit peripheral axonal neuropathy, ptosis, and sensorineural hearing loss (Le et al., 2021). For a discussion of genetic heterogeneity of VSCN, see VSCN1 (243180). [from OMIM]

Clinical features

From HPO

Clubfoot

MedGen UID:: 3130
•Concept ID:: C0009081
•: Congenital Abnormality

Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

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Chronic constipation

MedGen UID:: 98325
•Concept ID:: C0401149
•: Sign or Symptom

Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.

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Sensorineural hearing loss disorder

MedGen UID:: 9164
•Concept ID:: C0018784
•: Disease or Syndrome

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

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Peripheral axonal neuropathy

MedGen UID:: 266071
•Concept ID:: C1263857
•: Disease or Syndrome

An abnormality characterized by disruption of the normal functioning of peripheral axons.

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Short-segment aganglionic megacolon

MedGen UID:: 869014
•Concept ID:: C4023431
•: Congenital Abnormality

A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.

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Ptosis

MedGen UID:: 2287
•Concept ID:: C0005745
•: Disease or Syndrome

The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

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Abnormality of limbs
- Clubfoot
Abnormality of the digestive system
- Chronic constipation
Abnormality of the eye
- Ptosis
Abnormality of the nervous system
- Peripheral axonal neuropathy
- Short-segment aganglionic megacolon
Ear malformation
- Sensorineural hearing loss disorder

Recent clinical studies

Etiology

Mitochondrial Neurogastrointestinal Encephalopathy: Clinical, Biochemical and Molecular Study in Three Egyptian Patients.

Selim L, Van Coster R, Mehaney D, Hassan F, Vanlander A, Smet J, De Latter E, Vandemeulebroecke K, Mohamed Abdou D, Nakhla G, Mostafa M, Habets D, Bakker J, Abdel Bary A
Genet Couns 2016;27(2):193-205. PMID: 29485812

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

Halter JP, Michael W, Schüpbach M, Mandel H, Casali C, Orchard K, Collin M, Valcarcel D, Rovelli A, Filosto M, Dotti MT, Marotta G, Pintos G, Barba P, Accarino A, Ferra C, Illa I, Beguin Y, Bakker JA, Boelens JJ, de Coo IF, Fay K, Sue CM, Nachbaur D, Zoller H, Sobreira C, Pinto Simoes B, Hammans SR, Savage D, Martí R, Chinnery PF, Elhasid R, Gratwohl A, Hirano M
Brain 2015 Oct;138(Pt 10):2847-58. Epub 2015 Aug 10 doi: 10.1093/brain/awv226. PMID: 26264513 Free PMC Article

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