MCID: NRN038
MIFTS: 28

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 71
Neuronal Intestinal Dysplasia Type B 12 15
Nid B 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
neuronal intestinal dysplasia, type b:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080680
OMIM® 57 601223
MedGen 41 C1832589
SNOMED-CT via HPO 68 263681008
UMLS 71 C1832589

Summaries for Neuronal Intestinal Dysplasia, Type B

Disease Ontology : 12 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 meckel diverticulum and hirschsprung disease 1. An important gene associated with Neuronal Intestinal Dysplasia, Type B is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Neuroscience and VEGF Pathway (Tocris). 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 274)
# Related Disease Score Top Affiliating Genes
1 meckel diverticulum 29.6 SYP KIT CD34
2 hirschsprung disease 1 29.2 SYP RET KIT ENO2
3 constipation 10.2
4 central nervous system hemangioma 10.1 RET CD34
5 atypical follicular adenoma 10.1 RET ENO2
6 thyroid sarcoma 10.1 RET CD34
7 multiple mucosal neuroma 10.1 RET ENO2
8 penis sarcoma 10.1 ENO2 CD34
9 pacinian tumor 10.1 ENO2 CD34
10 psammomatous meningioma 10.1 ENO2 CD34
11 congenital granular cell tumor 10.1 ENO2 CD34
12 pulmonary artery leiomyosarcoma 10.1 ENO2 CD34
13 volvulus of midgut 10.1
14 cystic fibrosis 10.1
15 visceral neuropathy, familial, autosomal recessive 10.1
16 hypoganglionosis 10.1 SYP RET
17 ovarian germ cell teratoma 10.1 SYP RET
18 glomangioma 10.1 SYP CD34
19 extra-adrenal pheochromocytoma 10.1 SYP RET
20 malignant melanocytic neoplasm of the peripheral nerve sheath 10.1 SYP ENO2
21 anal neuroendocrine tumor 10.1 SYP ENO2
22 optic nerve astrocytoma 10.1 SYP ENO2
23 cerebral neuroblastoma 10.1 SYP ENO2
24 neurofibrosarcoma 10.1 ENO2 CD34
25 glomangiomyoma 10.1 SYP CD34
26 sinonasal undifferentiated carcinoma 10.1 SYP ENO2
27 auditory system benign neoplasm 10.1 SYP ENO2
28 papillary tumor of the pineal region 10.1 SYP ENO2
29 small cell carcinoma of the bladder 10.1 SYP ENO2
30 auditory system cancer 10.1 SYP ENO2
31 cloacogenic carcinoma 10.1 SYP ENO2
32 extraosseous ewings sarcoma-primitive neuroepithelial tumor 10.0 SYP ENO2
33 cauda equina neoplasm 10.0 SYP ENO2
34 intracranial primitive neuroectodermal tumor 10.0 SYP ENO2
35 bile duct mucinous adenocarcinoma 10.0 SYP ENO2
36 nodular prostate 10.0 SYP ENO2
37 ampulla of vater neoplasm 10.0 SYP ENO2
38 appendix carcinoid tumor 10.0 SYP ENO2
39 carotid body cancer 10.0 SYP ENO2
40 gallbladder small cell carcinoma 10.0 SYP ENO2
41 ureter small cell carcinoma 10.0 SYP ENO2
42 cerebellar liponeurocytoma 10.0 SYP ENO2
43 middle ear adenoma 10.0 SYP ENO2
44 glomangiosarcoma 10.0 SYP CD34
45 cerebellopontine angle primitive neuroectodermal tumor 10.0 SYP ENO2
46 bone benign neoplasm 10.0 ENO2 CD34
47 urinary bladder small cell neuroendocrine carcinoma 10.0 SYP ENO2
48 gastric small cell carcinoma 10.0 SYP ENO2
49 extracranial neuroblastoma 10.0 SYP ENO2
50 frontal lobe neoplasm 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:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

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

Publications for Neuronal Intestinal Dysplasia, Type B

Articles related to Neuronal Intestinal Dysplasia, Type B:

# Title Authors PMID Year
1
Exclusion of linkage between RET and neuronal intestinal dysplasia type B. 61 57
8882403 1996
2
Neuronal intestinal dysplasia: clinical experience in Italian patients. 61 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
Sigmoid volvulus as a presentation of neuronal intestinal dysplasia type B in an adolescent. 61
23735030 2013
6
Neuronal intestinal dysplasia type B with massive small intestinal hemorrhage: report of one case. 61
14964989 2003
7
Congenital interstitial cell of cajal hyperplasia with neuronal intestinal dysplasia. 61
11075862 2000
8
[Severe chronic constipation: limitations of medical therapy and indications for surgical intervention. II]. 61
9053880 1996
9
Cystic fibrosis associated with neuronal intestinal dysplasia type B: a case report. 61
8811565 1996
10
Peripherin: a novel marker for the immunohistochemical study of malformations of the enteric nervous system. 61
8963631 1996

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 11.33 SYP RET ENO2
2
Show member pathways
11.29 RET KIT
3 11.22 KIT CD34
4 11.15 KIT CD34
5 11.02 KIT CD34
6 10.8 RET KIT

GO Terms for Neuronal Intestinal Dysplasia, Type B

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of kinase activity GO:0033674 9.16 RET KIT
2 positive regulation of gene expression GO:0010628 9.13 RET KIT CD34
3 hemopoiesis GO:0030097 8.62 KIT CD34

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.96 RET KIT
2 SH2 domain binding GO:0042169 8.62 SYP KIT

Sources for Neuronal Intestinal Dysplasia, Type B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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