MCID: NRN038
MIFTS: 27

Neuronal Intestinal Dysplasia, Type B

Categories: Gastrointestinal diseases, Neuronal diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Neuronal Intestinal Dysplasia, Type B

MalaCards integrated aliases for Neuronal Intestinal Dysplasia, Type B:

Name: Neuronal Intestinal Dysplasia, Type B 57 28 71
Neuronal Intestinal Dysplasia Type B 11 14
Nid B 57

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0080680
OMIM® 57 601223
MedGen 40 C1832589
UMLS 71 C1832589

Summaries for Neuronal Intestinal Dysplasia, Type B

Disease Ontology: 11 An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus.

MalaCards based summary: Neuronal Intestinal Dysplasia, Type B, also known as neuronal intestinal dysplasia type b, is related to intestinal pseudo-obstruction and meckel diverticulum. An important gene associated with Neuronal Intestinal Dysplasia, Type B is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Neuroscience and Mesenchymal Stem Cells and Lineage-specific Markers. 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, Type B family:

Neuronal Intestinal Dysplasia Type a

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

(show top 50) (show all 319)
# Related Disease Score Top Affiliating Genes
1 intestinal pseudo-obstruction 30.1 SYP RET KIT
2 meckel diverticulum 30.0 KIT CD34
3 hirschsprung disease 1 29.2 SYP RET KIT ENO2
4 atypical follicular adenoma 10.1 RET ENO2
5 central nervous system hemangioma 10.1 RET CD34
6 thyroid sarcoma 10.1 RET CD34
7 vulvar granular cell tumor 10.1 ENO2 CD34
8 penis sarcoma 10.1 ENO2 CD34
9 volvulus of midgut 10.1
10 cystic fibrosis 10.1
11 visceral neuropathy, familial, 1, autosomal recessive 10.1
12 conventional fibrosarcoma 10.1 ENO2 CD34
13 pacinian tumor 10.1 ENO2 CD34
14 parietal lobe neoplasm 10.1 ENO2 CD34
15 spindle cell thymoma 10.1 ENO2 CD34
16 childhood fibrosarcoma 10.1 RET CD34
17 epithelioid malignant peripheral nerve sheath tumor 10.1 ENO2 CD34
18 malignant triton tumor 10.1 ENO2 CD34
19 epulis 10.1 ENO2 CD34
20 congenital fibrosarcoma 10.1 RET CD34
21 congenital granular cell tumor 10.1 ENO2 CD34
22 pulmonary artery leiomyosarcoma 10.1 ENO2 CD34
23 extra-adrenal pheochromocytoma 10.1 SYP RET
24 ovarian germ cell teratoma 10.1 SYP RET
25 small cell carcinoma 10.0 SYP ENO2
26 malignant melanocytic neoplasm of the peripheral nerve sheath 10.0 SYP ENO2
27 granular cell tumor 10.0 SYP ENO2
28 anal neuroendocrine tumor 10.0 SYP ENO2
29 cerebral neuroblastoma 10.0 SYP ENO2
30 thymus small cell carcinoma 10.0 SYP ENO2
31 gastric small cell carcinoma 10.0 SYP ENO2
32 optic nerve astrocytoma 10.0 SYP ENO2
33 breast neuroendocrine neoplasm 10.0 SYP ENO2
34 lung meningioma 10.0 SYP CD34
35 cloacogenic carcinoma 10.0 SYP ENO2
36 middle ear adenoma 10.0 SYP ENO2
37 extraosseous ewings sarcoma-primitive neuroepithelial tumor 10.0 SYP ENO2
38 cauda equina neoplasm 10.0 SYP ENO2
39 colon neuroendocrine neoplasm 10.0 SYP ENO2
40 bile duct mucinous adenocarcinoma 10.0 SYP ENO2
41 ampulla of vater benign neoplasm 10.0 SYP ENO2
42 partial cryptophthalmia 10.0 SYP ENO2
43 auditory system benign neoplasm 10.0 SYP ENO2
44 carotid body cancer 10.0 SYP ENO2
45 neurohypophysis granular cell tumor 10.0 SYP ENO2
46 intracranial primitive neuroectodermal tumor 10.0 SYP ENO2
47 glomangiomyoma 10.0 SYP CD34
48 cerebellopontine angle primitive neuroectodermal tumor 10.0 SYP ENO2
49 cutaneous fibrous histiocytoma 10.0 ENO2 CD34
50 auditory system cancer 10.0 SYP ENO2

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 30 HP:0001939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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 28

Anatomical Context for Neuronal Intestinal Dysplasia, Type B

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. 62 57
8882403 1996
2
Neuronal intestinal dysplasia: clinical experience in Italian patients. 62 57
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]. 57
1876586 1991
4
[Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis]. 57
6649903 1983
5
Hydrophilic, Red-Emitting, and Thermally Activated Delayed Fluorescence Emitter for Time-Resolved Luminescence Imaging by Mitochondrion-Induced Aggregation in Living Cells. 62
30886801 2019
6
Sigmoid volvulus as a presentation of neuronal intestinal dysplasia type B in an adolescent. 62
23735030 2013
7
Neuronal intestinal dysplasia type B with massive small intestinal hemorrhage: report of one case. 62
14964989 2003
8
Congenital interstitial cell of cajal hyperplasia with neuronal intestinal dysplasia. 62
11075862 2000
9
[Severe chronic constipation: limitations of medical therapy and indications for surgical intervention. II]. 62
9053880 1996
10
Cystic fibrosis associated with neuronal intestinal dysplasia type B: a case report. 62
8811565 1996
11
Peripherin: a novel marker for the immunohistochemical study of malformations of the enteric nervous system. 62
8963631 1996
12
Neuronal intestinal malformations: a retro- and prospective study on 203 patients. 62
7857884 1994
13
The neuropathological diagnosis of neuronal intestinal dysplasia (NID B). 62
7857882 1994
14
[Classification of malformations of colorectal innervation]. 62
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

Pathways related to Neuronal Intestinal Dysplasia, Type B according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.66 SYP RET ENO2
2 11.38 KIT CD34
3 11.27 KIT CD34
4 11.22 KIT CD34
5
Show member pathways
11.15 RET KIT
6 11.02 KIT CD34
7 9.53 RET KIT

GO Terms for Neuronal Intestinal Dysplasia, Type B

Molecular functions related to Neuronal Intestinal Dysplasia, Type B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SH2 domain binding GO:0042169 8.92 SYP KIT

Sources for Neuronal Intestinal Dysplasia, Type B

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....