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 ⁵⁸ ³⁰ ⁷⁴

Nid B ⁵⁸

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

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 ⁵⁸ 601223

MedGen ⁴³ C1832589

SNOMED-CT via HPO ⁷⁰ 263681008

UMLS ⁷⁴ C1832589

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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 cystic fibrosis. Affiliated tissues include small intestine, and related phenotype is abnormality of metabolism/homeostasis.

Description from OMIM: 601223

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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	cystic fibrosis	10.0
3	intestinal volvulus	10.0

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Symptoms & Phenotypes for Neuronal Intestinal Dysplasia, Type B

Human phenotypes related to Neuronal Intestinal Dysplasia, Type B:

³³

#	Description	HPO Frequency	HPO Source Accession
1	abnormality of metabolism/homeostasis ³³		HP:0001939

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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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 ³⁰

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Anatomical Context for Neuronal Intestinal Dysplasia, Type B

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

⁴²

Small Intestine

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Publications for Neuronal Intestinal Dysplasia, Type B

Articles related to Neuronal Intestinal Dysplasia, Type B:

#	Title	Authors	Year
1	Sigmoid volvulus as a presentation of neuronal intestinal dysplasia type B in an adolescent. ( 23735030 )	J?quez-Quintana JO...Maldonado-Garza HJ	2013
2	Neuronal intestinal dysplasia type B with massive small intestinal hemorrhage: report of one case. ( 14964989 )	Chu YT...Jeng YM	2003
3	Cystic fibrosis associated with neuronal intestinal dysplasia type B: a case report. ( 8811565 )	Wildhaber J...Sch?ni MH	1996
4	Exclusion of linkage between RET and neuronal intestinal dysplasia type B. ( 8882403 )	Barone V...Romeo G	1996
5	The neuropathological diagnosis of neuronal intestinal dysplasia (NID B). ( 7857882 )	Meier-Ruge W...Schmidt CP	1994

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Genes for Neuronal Intestinal Dysplasia, Type B

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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

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GO Terms for Neuronal Intestinal Dysplasia, Type B

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Sources for Neuronal Intestinal Dysplasia, Type B

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