Neuronal Intestinal Dysplasia, Type B disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Anatomical: Gastrointestinal diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0080680

OMIM® ⁵⁷ 601223

MedGen ⁴⁰ C1832589

UMLS ⁷¹ C1832589

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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

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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:

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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)

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Drugs & Therapeutics for Neuronal Intestinal Dysplasia, Type B

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

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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

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Anatomical Context for Neuronal Intestinal Dysplasia, Type B

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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	Barone V...Romeo G	8882403	1996
2	Neuronal intestinal dysplasia: clinical experience in Italian patients. ⁶² ⁵⁷	Martucciello G...Jasonni V	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	Borchard F...Stolte M	1876586	1991
4	[Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis]. ⁵⁷	Fadda B...Daum R	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	Ni F...Yang C	30886801	2019
6	Sigmoid volvulus as a presentation of neuronal intestinal dysplasia type B in an adolescent. ⁶²	Jaquez-Quintana JO...Maldonado-Garza HJ	23735030	2013
7	Neuronal intestinal dysplasia type B with massive small intestinal hemorrhage: report of one case. ⁶²	Chu YT...Jeng YM	14964989	2003
8	Congenital interstitial cell of cajal hyperplasia with neuronal intestinal dysplasia. ⁶²	Jeng YM...Hsu HC	11075862	2000
9	[Severe chronic constipation: limitations of medical therapy and indications for surgical intervention. II]. ⁶²	Campobasso P...Fabbro MA	9053880	1996
10	Cystic fibrosis associated with neuronal intestinal dysplasia type B: a case report. ⁶²	Wildhaber J...Schoni MH	8811565	1996
11	Peripherin: a novel marker for the immunohistochemical study of malformations of the enteric nervous system. ⁶²	Szabolcs MJ...Schullinger JN	8963631	1996
12	Neuronal intestinal malformations: a retro- and prospective study on 203 patients. ⁶²	Ure BM...Meier-Ruge W	7857884	1994
13	The neuropathological diagnosis of neuronal intestinal dysplasia (NID B). ⁶²	Meier-Ruge W...Schmidt CP	7857882	1994
14	[Classification of malformations of colorectal innervation]. ⁶²	Meier-Ruge W	1724847	1991

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Genes for Neuronal Intestinal Dysplasia, Type B

Genes related to Neuronal Intestinal Dysplasia, Type B (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	RET	Ret Proto-Oncogene	Protein Coding	5.34	DISEASES inferred ¹⁴
2	ENO2	Enolase 2	Protein Coding	4.54	DISEASES inferred ¹⁴
3	SYP	Synaptophysin	Protein Coding	4.46	DISEASES inferred ¹⁴
4	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	4	DISEASES inferred ¹⁴
5	CD34	CD34 Molecule	Protein Coding	3.88	DISEASES inferred ¹⁴

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Variations for Neuronal Intestinal Dysplasia, Type B

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Expression for Neuronal Intestinal Dysplasia, Type B

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

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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	Neuroscience ³	11.66	SYP RET ENO2
2	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	11.38	KIT CD34
3	Innate Lymphoid Cells Differentiation ⁶⁵	11.27	KIT CD34
4	C-MYB transcription factor network ⁶¹	11.22	KIT CD34
5	VEGF Pathway (Tocris) ⁷⁰ Show member pathways Sorafenib Pharmacodynamics ⁶⁰	11.15	RET KIT
6	Dendritic Cells Developmental Lineage Pathway ⁶⁵	11.02	KIT CD34
7	Regorafenib Pathway, Pharmacodynamics ⁶⁰	9.53	RET KIT

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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

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Sources for Neuronal Intestinal Dysplasia, Type B

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: NRN038 MIFTS: 27	Neuronal Intestinal Dysplasia, Type B Categories: Gastrointestinal diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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