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

Sources

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:

MalaCards categories:
Anatomical: Gastrointestinal diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 601223

MedGen ⁴² C1832589

UMLS ⁷² C1832589

Sources

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

Sources

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
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:

Sources

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

Sources

Drugs & Therapeutics for Neuronal Intestinal Dysplasia, Type B

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

Sources

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

Sources

Anatomical Context for Neuronal Intestinal Dysplasia, Type B

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

⁴¹

Small Intestine

Sources

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	Barone V...Romeo G	8882403	1996
2	Neuronal intestinal dysplasia: clinical experience in Italian patients. ³⁸ ⁸	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]. ⁸	Borchard F...Stolte M	1876586	1991
4	[Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis]. ⁸	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. ³⁸	Ni F...Yang C	30886801	2019
6	Sigmoid volvulus as a presentation of neuronal intestinal dysplasia type B in an adolescent. ³⁸	Jaquez-Quintana JO...Maldonado-Garza HJ	23735030	2013
7	Neuronal intestinal dysplasia type B with massive small intestinal hemorrhage: report of one case. ³⁸	Chu YT...Jeng YM	14964989	2003
8	Congenital interstitial cell of cajal hyperplasia with neuronal intestinal dysplasia. ³⁸	Jeng YM...Hsu HC	11075862	2000
9	[Severe chronic constipation: limitations of medical therapy and indications for surgical intervention. II]. ³⁸	Campobasso P...Fabbro MA	9053880	1996
10	Cystic fibrosis associated with neuronal intestinal dysplasia type B: a case report. ³⁸	Wildhaber J...Schoni MH	8811565	1996
11	Peripherin: a novel marker for the immunohistochemical study of malformations of the enteric nervous system. ³⁸	Szabolcs MJ...Schullinger JN	8963631	1996
12	The neuropathological diagnosis of neuronal intestinal dysplasia (NID B). ³⁸	Meier-Ruge W...Schmidt CP	7857882	1994
13	Neuronal intestinal malformations: a retro- and prospective study on 203 patients. ³⁸	Ure BM...Meier-Ruge W	7857884	1994
14	[Classification of malformations of colorectal innervation]. ³⁸	Meier-Ruge W	1724847	1991

Sources

Genes for Neuronal Intestinal Dysplasia, Type B

Sources

Variations for Neuronal Intestinal Dysplasia, Type B

Sources

Expression for Neuronal Intestinal Dysplasia, Type B

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

Sources

Pathways for Neuronal Intestinal Dysplasia, Type B

Sources

GO Terms for Neuronal Intestinal Dysplasia, Type B

Sources

Sources for Neuronal Intestinal Dysplasia, Type B

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia