MCID: VSC054
MIFTS: 18

Visceral Neuropathy, Familial, Autosomal Recessive

Categories: Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Visceral Neuropathy, Familial, Autosomal Recessive

MalaCards integrated aliases for Visceral Neuropathy, Familial, Autosomal Recessive:

Name: Visceral Neuropathy, Familial, Autosomal Recessive 56
Pseudoobstruction, Chronic Idiopathic Intestinal, Neuronal Type 56
Intestinal Pseudoobstruction Due to Neuronal Disease 56
Argyrophil Myenteric Plexus, Deficiency of 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
some cases dominant


HPO:

31
visceral neuropathy, familial, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Visceral Neuropathy, Familial, Autosomal Recessive

MalaCards based summary : Visceral Neuropathy, Familial, Autosomal Recessive, also known as pseudoobstruction, chronic idiopathic intestinal, neuronal type, is related to visceral neuropathy familial. Affiliated tissues include small intestine and colon, and related phenotypes are dysarthria and vomiting

More information from OMIM: 243180

Related Diseases for Visceral Neuropathy, Familial, Autosomal Recessive

Diseases in the Visceral Neuropathy Familial family:

Visceral Neuropathy, Familial, Autosomal Recessive Visceral Neuropathy, Familial, Autosomal Dominant

Diseases related to Visceral Neuropathy, Familial, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 visceral neuropathy familial 11.6

Symptoms & Phenotypes for Visceral Neuropathy, Familial, Autosomal Recessive

Human phenotypes related to Visceral Neuropathy, Familial, Autosomal Recessive:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 dysarthria 31 HP:0001260
2 vomiting 31 HP:0002013
3 areflexia 31 HP:0001284
4 gait ataxia 31 HP:0002066
5 impaired proprioception 31 HP:0010831
6 intestinal malrotation 31 HP:0002566
7 episodic abdominal pain 31 HP:0002574
8 colonic diverticula 31 HP:0002253
9 impaired vibratory sensation 31 HP:0002495
10 functional intestinal obstruction 31 HP:0005249

Symptoms via clinical synopsis from OMIM:

56
Neuro:
dysarthria
gait ataxia
absent deep tendon reflexes
argyrophil myenteric plexus defect
small, irregular, poorly reactive pupils
more
Misc:
inappropriate blood pressure responses to phenylephrine, valsalva maneuver, and upright posture
lack of sweating on warming

Lab:
myenteric and other neurons contain round, eosinophilic intranuclear proteinaceous inclusions consisting of an irregular array of nonviral, nonmembrane bound filaments by electron microscopy

G I:
intestinal malrotation
functional intestinal obstruction
pyloric hypertrophy
small intestine short
absent ongoing peristalsis
more
Radiology:
hyperactive, nonpropulsive contractions of a dilated esophagus and small intestine
extensive colonic diverticulosis

Clinical features from OMIM:

243180

Drugs & Therapeutics for Visceral Neuropathy, Familial, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Visceral Neuropathy, Familial, Autosomal Recessive

Genetic Tests for Visceral Neuropathy, Familial, Autosomal Recessive

Anatomical Context for Visceral Neuropathy, Familial, Autosomal Recessive

MalaCards organs/tissues related to Visceral Neuropathy, Familial, Autosomal Recessive:

40
Small Intestine, Colon

Publications for Visceral Neuropathy, Familial, Autosomal Recessive

Articles related to Visceral Neuropathy, Familial, Autosomal Recessive:

# Title Authors PMID Year
1
Exclusion of linkage between RET and neuronal intestinal dysplasia type B. 56
8882403 1996
2
Congenital intestinal pseudo-obstruction associated with a giant platelet disorder. 56
1910094 1991
3
Familial progressive neuronal disease and chronic idiopathic intestinal pseudo-obstruction. 56
3035426 1987
4
Familial intestinal pseudoobstruction dominated by a progressive neurologic disease at a young age. 56
3028897 1987
5
[Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis]. 56
6649903 1983
6
Idiopathic intestinal pseudo-obstruction: a familial visceral neuropathy. 56
7438508 1980
7
A familial neuronal disease presenting as intestinal pseudoobstruction. 56
212342 1978
8
Functional intestinal obstruction due to deficiency of argyrophil neurones in the myenteric plexus. Familial syndrome presenting with short small bowel, malrotation, and pyloric hypertrophy. 56
1008589 1976
9
Chronic idiopathic intestinal pseudo-obstruction. 56
5452942 1970

Variations for Visceral Neuropathy, Familial, Autosomal Recessive

Expression for Visceral Neuropathy, Familial, Autosomal Recessive

Search GEO for disease gene expression data for Visceral Neuropathy, Familial, Autosomal Recessive.

Pathways for Visceral Neuropathy, Familial, Autosomal Recessive

GO Terms for Visceral Neuropathy, Familial, Autosomal Recessive

Sources for Visceral Neuropathy, Familial, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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