MCID: NRN038
MIFTS: 17

Neuronal Intestinal Dysplasia, Type B

Categories: Gastrointestinal diseases, Neuronal diseases

Aliases & Classifications for Neuronal Intestinal Dysplasia, Type B

MalaCards integrated aliases for Neuronal Intestinal Dysplasia, Type B:

Name: Neuronal Intestinal Dysplasia, Type B 57 29 72
Nid B 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
neuronal intestinal dysplasia, type b:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601223
MedGen 42 C1832589
UMLS 72 C1832589

Summaries for Neuronal Intestinal Dysplasia, Type B

MalaCards based summary : Neuronal Intestinal Dysplasia, Type B, also known as nid b, is related to neuronal intestinal dysplasia and constipation. Affiliated tissues include small intestine, and related phenotype is abnormality of metabolism/homeostasis.

More information from OMIM: 601223

Related Diseases for Neuronal Intestinal Dysplasia, Type B

Diseases in the Neuronal Intestinal Dysplasia family:

Neuronal Intestinal Dysplasia, Type B

Diseases related to Neuronal Intestinal Dysplasia, Type B via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuronal intestinal dysplasia 10.3
2 constipation 10.1
3 fibrosis of extraocular muscles, congenital, 1 10.0
4 hirschsprung disease 1 10.0
5 meckel diverticulum 10.0
6 cystic fibrosis 10.0
7 visceral neuropathy, familial, autosomal recessive 10.0
8 intestinal volvulus 10.0

Graphical network of the top 20 diseases related to Neuronal Intestinal Dysplasia, Type B:



Diseases related to Neuronal Intestinal Dysplasia, Type B

Symptoms & Phenotypes for Neuronal Intestinal Dysplasia, Type B

Human phenotypes related to Neuronal Intestinal Dysplasia, Type B:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939

Symptoms via clinical synopsis from OMIM:

57
Misc:
most cases sporadic

Lab:
hyperplasia of submucosal plexuses
giant submucosal ganglia
increased acetylcholinesterase activity in nerve fibers around submucosal blood vessels and lamina propria mucosae
heterotopic ganglion cells in the lamina propria mucosae and in the muscularis mucosae

Clinical features from OMIM:

601223

Drugs & Therapeutics for Neuronal Intestinal Dysplasia, Type B

Search Clinical Trials , NIH Clinical Center for Neuronal Intestinal Dysplasia, Type B

Genetic Tests for Neuronal Intestinal Dysplasia, Type B

Genetic tests related to Neuronal Intestinal Dysplasia, Type B:

# Genetic test Affiliating Genes
1 Neuronal Intestinal Dysplasia, Type B 29

Anatomical Context for Neuronal Intestinal Dysplasia, Type B

MalaCards organs/tissues related to Neuronal Intestinal Dysplasia, Type B:

41
Small Intestine

Publications for Neuronal Intestinal Dysplasia, Type B

Articles related to Neuronal Intestinal Dysplasia, Type B:

(show all 14)
# Title Authors PMID Year
1
Exclusion of linkage between RET and neuronal intestinal dysplasia type B. 38 8
8882403 1996
2
Neuronal intestinal dysplasia: clinical experience in Italian patients. 38 8
7857885 1994
3
[Disorders of the innervation of the large intestine--classification and diagnosis. Results of a consensus conference of the Society of Gastroenteropathology 1 December 1990 in Frankfurt/Main]. 8
1876586 1991
4
[Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis]. 8
6649903 1983
5
Hydrophilic, Red-Emitting, and Thermally Activated Delayed Fluorescence Emitter for Time-Resolved Luminescence Imaging by Mitochondrion-Induced Aggregation in Living Cells. 38
30886801 2019
6
Sigmoid volvulus as a presentation of neuronal intestinal dysplasia type B in an adolescent. 38
23735030 2013
7
Neuronal intestinal dysplasia type B with massive small intestinal hemorrhage: report of one case. 38
14964989 2003
8
Congenital interstitial cell of cajal hyperplasia with neuronal intestinal dysplasia. 38
11075862 2000
9
[Severe chronic constipation: limitations of medical therapy and indications for surgical intervention. II]. 38
9053880 1996
10
Cystic fibrosis associated with neuronal intestinal dysplasia type B: a case report. 38
8811565 1996
11
Peripherin: a novel marker for the immunohistochemical study of malformations of the enteric nervous system. 38
8963631 1996
12
The neuropathological diagnosis of neuronal intestinal dysplasia (NID B). 38
7857882 1994
13
Neuronal intestinal malformations: a retro- and prospective study on 203 patients. 38
7857884 1994
14
[Classification of malformations of colorectal innervation]. 38
1724847 1991

Variations for Neuronal Intestinal Dysplasia, Type B

Expression for Neuronal Intestinal Dysplasia, Type B

Search GEO for disease gene expression data for Neuronal Intestinal Dysplasia, Type B.

Pathways for Neuronal Intestinal Dysplasia, Type B

GO Terms for Neuronal Intestinal Dysplasia, Type B

Sources for Neuronal Intestinal Dysplasia, Type B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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