MCID: NRN038
MIFTS: 16

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 58 30 74
Nid B 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
neuronal intestinal dysplasia, type b:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 601223
MedGen 43 C1832589
SNOMED-CT via HPO 70 263681008
UMLS 74 C1832589

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

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 Top Affiliating Genes
1 neuronal intestinal dysplasia 10.3
2 cystic fibrosis 10.0
3 intestinal volvulus 10.0

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

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 30

Anatomical Context for Neuronal Intestinal Dysplasia, Type B

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

42
Small Intestine

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 )
2013
2
Neuronal intestinal dysplasia type B with massive small intestinal hemorrhage: report of one case. ( 14964989 )
2003
3
Cystic fibrosis associated with neuronal intestinal dysplasia type B: a case report. ( 8811565 )
1996
4
Exclusion of linkage between RET and neuronal intestinal dysplasia type B. ( 8882403 )
1996
5
The neuropathological diagnosis of neuronal intestinal dysplasia (NID B). ( 7857882 )
1994

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

GO Terms for Neuronal Intestinal Dysplasia, Type B

Sources for Neuronal Intestinal Dysplasia, Type B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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