MCID: NRN029
MIFTS: 33

Neuronal Intestinal Dysplasia

Categories: Gastrointestinal diseases, Neuronal diseases

Aliases & Classifications for Neuronal Intestinal Dysplasia

MalaCards integrated aliases for Neuronal Intestinal Dysplasia:

Name: Neuronal Intestinal Dysplasia 12 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:0080072
UMLS 74 C0345244

Summaries for Neuronal Intestinal Dysplasia

MalaCards based summary : Neuronal Intestinal Dysplasia is related to intestinal obstruction and megacolon. An important gene associated with Neuronal Intestinal Dysplasia is NID1 (Nidogen 1), and among its related pathways/superpathways are Neuroscience and G-protein signaling_H-RAS regulation pathway. Affiliated tissues include colon, pineal and small intestine, and related phenotypes are Dynamic nuclei (hole, folded or small irregular) and behavior/neurological

Wikipedia : 77 Intestinal neuronal dysplasia is an inherited disease of the intestine that affects one in 3000 children... more...

Related Diseases for Neuronal Intestinal Dysplasia

Diseases in the Neuronal Intestinal Dysplasia family:

Neuronal Intestinal Dysplasia, Type B

Diseases related to Neuronal Intestinal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 intestinal obstruction 30.2 ACHE EDN3 GDNF RET
2 megacolon 29.4 ACHE EDN3 GDNF GFRA1 RET TLX2
3 neuronal intestinal dysplasia, type b 12.5
4 carotid body cancer 10.4 ENO2 SYP
5 malignant sertoli cell tumor 10.4 ENO2 SYP
6 urinary bladder small cell neuroendocrine carcinoma 10.4 ENO2 SYP
7 auditory system cancer 10.4 ENO2 SYP
8 multiple mucosal neuroma 10.4 ENO2 RET
9 sinonasal undifferentiated carcinoma 10.4 ENO2 SYP
10 pancreatic somatostatinoma 10.4 ENO2 SYP
11 extrahepatic bile duct adenocarcinoma 10.4 ENO2 SYP
12 small cell carcinoma of the bladder 10.4 ENO2 SYP
13 papillary tumor of the pineal region 10.4 ENO2 SYP
14 sensory organ benign neoplasm 10.4 ENO2 SYP
15 orbital cancer 10.4 ENO2 SYP
16 middle ear adenoma 10.4 ENO2 SYP
17 pulmonary large cell neuroendocrine carcinoma 10.4 ENO2 SYP
18 gallbladder small cell carcinoma 10.4 ENO2 SYP
19 atypical follicular adenoma 10.4 ENO2 SYP
20 central nervous system primitive neuroectodermal neoplasm 10.4 ENO2 SYP
21 cerebellum cancer 10.4 ENO2 SYP
22 clear cell ependymoma 10.4 ENO2 SYP
23 cerebral neuroblastoma 10.4 ENO2 SYP
24 malignant glandular tumor of peripheral nerve sheath 10.4 SYP UCHL1
25 extraosseous chondrosarcoma 10.4 ENO2 SYP
26 subependymal glioma 10.3 ENO2 SYP
27 malignant teratoma 10.3 ENO2 SYP
28 astroblastoma 10.3 ENO2 SYP
29 gastric leiomyosarcoma 10.3 ENO2 KIT
30 cerebral ventricle cancer 10.3 ENO2 SYP
31 olfactory nerve neoplasm 10.3 ENO2 SYP
32 pineal gland cancer 10.3 ENO2 SYP
33 mixed type thymoma 10.3 KIT SYP
34 autonomic nervous system benign neoplasm 10.3 ENO2 SYP
35 plexiform schwannoma 10.3 ENO2 KIT
36 conventional fibrosarcoma 10.3 ENO2 KIT
37 medullary sponge kidney 10.3 GDNF RET
38 melanotic neuroectodermal tumor 10.3 ENO2 SYP
39 benign ependymoma 10.3 ENO2 SYP
40 lichen nitidus 10.3 RET UCHL1
41 nodular ganglioneuroblastoma 10.3 ENO2 SYP
42 intestinal pseudo-obstruction 10.3 RET SYP TLX2
43 oligomeganephronia 10.3 GDNF RET
44 ganglioneuroma 10.3 ENO2 RET SYP
45 rete testis adenocarcinoma 10.3 ENO2 KIT
46 carcinoid syndrome 10.2 ENO2 NTS SYP
47 pineocytoma 10.2 ENO2 SYP
48 paraganglioma 10.2 ENO2 RET SYP
49 cauda equina neoplasm 10.2 ENO2 SYP UCHL1
50 gastric small cell carcinoma 10.2 ENO2 SYP UCHL1

Graphical network of the top 20 diseases related to Neuronal Intestinal Dysplasia:



Diseases related to Neuronal Intestinal Dysplasia

Symptoms & Phenotypes for Neuronal Intestinal Dysplasia

GenomeRNAi Phenotypes related to Neuronal Intestinal Dysplasia according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Dynamic nuclei (hole, folded or small irregular) GR00257-A-1 9.28 DECR1 EDN3 GFRA1 NTS RET SYP

MGI Mouse Phenotypes related to Neuronal Intestinal Dysplasia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ACHE DECR1 EDN3 ENO2 GDNF GFRA1
2 digestive/alimentary MP:0005381 9.5 EDN3 GDNF GFRA1 KIT RET TLX2
3 nervous system MP:0003631 9.5 ACHE EDN3 ENO2 GDNF GFRA1 KIT

Drugs & Therapeutics for Neuronal Intestinal Dysplasia

Search Clinical Trials , NIH Clinical Center for Neuronal Intestinal Dysplasia

Genetic Tests for Neuronal Intestinal Dysplasia

Anatomical Context for Neuronal Intestinal Dysplasia

MalaCards organs/tissues related to Neuronal Intestinal Dysplasia:

42
Colon, Pineal, Small Intestine, Kidney, Prostate, Thyroid, Cerebellum

Publications for Neuronal Intestinal Dysplasia

Articles related to Neuronal Intestinal Dysplasia:

(show all 37)
# Title Authors Year
1
Massive hyperphosphatemia in a patient with neuronal intestinal dysplasia after bowel preparation with oral sodium phosphate. ( 23713794 )
2013
2
Sigmoid volvulus as a presentation of neuronal intestinal dysplasia type B in an adolescent. ( 23735030 )
2013
3
An unusual cause of abdominal distension in a 4-year-old boy. Neuronal intestinal dysplasia. ( 21878329 )
2011
4
A case of fulminant diversion pan-colitis presenting 19 years after colonic diversion for neuronal intestinal dysplasia. ( 22207874 )
2009
5
Anorectal electromanometrical patterns in children with isolated neuronal intestinal dysplasia. ( 18493893 )
2008
6
Evidence of secondary neuronal intestinal dysplasia in a rat model of chronic intestinal obstruction. ( 14761826 )
2004
7
Evidence of Secondary Neuronal Intestinal Dysplasia in a Rat Model of Chronic Intestinal Obstruction. ( 28925780 )
2004
8
Evidence of Secondary Neuronal Intestinal Dysplasia in a Rat Model of Chronic Intestinal Obstruction. ( 28925782 )
2004
9
Neuronal intestinal dysplasia type B with massive small intestinal hemorrhage: report of one case. ( 14964989 )
2003
10
Diagnostic difficulties in neuronal intestinal dysplasia and segmental colitis. ( 10726704 )
2000
11
Congenital interstitial cell of cajal hyperplasia with neuronal intestinal dysplasia. ( 11075862 )
2000
12
Neuronal intestinal dysplasia in an adult. ( 9173105 )
1997
13
Neuronal intestinal dysplasia presenting as an abdominal mass: report of a case. ( 9221867 )
1997
14
Cystic fibrosis associated with neuronal intestinal dysplasia type B: a case report. ( 8811565 )
1996
15
Exclusion of linkage between RET and neuronal intestinal dysplasia type B. ( 8882403 )
1996
16
Neuronal intestinal dysplasia: a role for surgery? ( 7546026 )
1995
17
Neuronal intestinal dysplasia. ( 7728504 )
1995
18
Rectal suction biopsy: can it be sufficient to diagnose neuronal intestinal dysplasia? ( 8555129 )
1995
19
Histopathological features of neuronal intestinal dysplasia of the plexus submucosus in whole mounts revealed by immunohistochemistry for PGP 9.5. ( 7748836 )
1994
20
Neuronal Intestinal Dysplasia. Proceedings of the International Symposium of the Hospital of Pediatric Surgery of the Cologne Municipal Clinical Center and International Association for Gastrointestinal Motility in Children. Cologne, Germany, November 11-13, 1993. ( 7857880 )
1994
21
The neuropathological diagnosis of neuronal intestinal dysplasia (NID B). ( 7857882 )
1994
22
Neuronal intestinal dysplasia: clinical experience in Italian patients. ( 7857885 )
1994
23
Experience with neuronal intestinal dysplasia (NID) in adults. ( 7857887 )
1994
24
Electromanometrical investigations in patients with isolated neuronal intestinal dysplasia (NID). ( 7857889 )
1994
25
Value of a score in the electromanometrical diagnosis of neuronal intestinal dysplasia. ( 7857890 )
1994
26
Is neuronal intestinal dysplasia (NID) a primary disease or a secondary phenomenon? ( 8218074 )
1993
27
Is histological diagnosis of neuronal intestinal dysplasia related to clinical and manometric findings in constipated children? Results of a pilot study. ( 8350212 )
1993
28
Clinical relevance of Hirschsprung-associated neuronal intestinal dysplasia (HANID). ( 1498103 )
1992
29
Ectopic class II major histocompatibility antigens in Hirschsprung's disease and neuronal intestinal dysplasia. ( 1501011 )
1992
30
Anorectal electromanometry in the diagnosis of neuronal intestinal dysplasia in childhood. ( 2031913 )
1991
31
Neuronal intestinal dysplasia: quantitative diagnostic criteria and clinical management. ( 2061781 )
1991
32
Functional colonic ultrasonography: normal findings of colonic motility and follow-up in neuronal intestinal dysplasia. ( 2513600 )
1989
33
Neuronal intestinal dysplasia. ( 2513603 )
1989
34
Neuronal intestinal dysplasia--clinical and histochemical findings and its association with Hirschsprung's disease. ( 3788295 )
1986
35
Clinical and histologic studies of neuronal intestinal dysplasia. ( 3891955 )
1985
36
Megacolon and neurofibromatosis: a neuronal intestinal dysplasia. Case report and review of the literature. ( 6425107 )
1984
37
Localized and disseminated forms of neuronal intestinal dysplasia mimicking Hirschsprung's disease. ( 7241318 )
1981

Variations for Neuronal Intestinal Dysplasia

Expression for Neuronal Intestinal Dysplasia

Search GEO for disease gene expression data for Neuronal Intestinal Dysplasia.

Pathways for Neuronal Intestinal Dysplasia

Pathways related to Neuronal Intestinal Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.19 ENO2 RET SYP UBE2K UCHL1
2 10.9 GDNF GFRA1 RET
3 10.38 GDNF GFRA1 RET
4 9.61 GDNF GFRA1 RET

GO Terms for Neuronal Intestinal Dysplasia

Cellular components related to Neuronal Intestinal Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection terminus GO:0044306 8.62 SYP UCHL1

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.67 GDNF GFRA1 KIT RET
2 response to pain GO:0048265 9.48 RET TAC1
3 melanocyte differentiation GO:0030318 9.46 EDN3 KIT
4 regulation of blood vessel size GO:0050880 9.43 EDN3 NTS
5 positive regulation of synaptic transmission, GABAergic GO:0032230 9.4 NPS TAC1
6 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.32 GFRA1 RET
7 regulation of developmental pigmentation GO:0048070 9.26 EDN3 KIT
8 positive regulation of action potential GO:0045760 9.16 NPS TAC1
9 neural crest cell migration GO:0001755 9.13 EDN3 GDNF RET
10 enteric nervous system development GO:0048484 8.8 GDNF RET TLX2

Sources for Neuronal Intestinal Dysplasia

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
Content
Loading form....