MCID: HYP572
MIFTS: 27

Hypoganglionosis

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Hypoganglionosis

MalaCards integrated aliases for Hypoganglionosis:

Name: Hypoganglionosis 20
Intestinal Hypoganglionosis 20

Classifications:



Summaries for Hypoganglionosis

GARD : 20 Hypoganglionosis, also known as intestinal hypoganglionosis, is a disorder causing a reduced number of nerves in the intestinal wall. Intestinal hypoganglionosis can mimic Hirschsprung disease ; patients with both conditions may present with chronic constipation, intestinal obstruction, and enterocolitis (inflammation of the intestines). Patients with hypoganglionosis may also suffer from severe complications including fecaloma (hardening of the feces inside the colon), bleeding or perforation of the intestine, and breathing problems resulting from a distended colon. An accurate diagnosis in adults is often difficult, requiring one or more biopsies of the intestinal wall. The exact cause of hypoganglionoisis is not known. In some cases, it is due to factors present at birth ( congenital ), while other times it is believed to be an acquired condition. The management of isolated hypoganglionosis generally involves surgery to remove the affected bowel segment.

MalaCards based summary : Hypoganglionosis, also known as intestinal hypoganglionosis, is related to intestinal obstruction and megacolon. An important gene associated with Hypoganglionosis is NCAM1 (Neural Cell Adhesion Molecule 1), and among its related pathways/superpathways are Neuroscience and ATF-2 transcription factor network. The drug Cola has been mentioned in the context of this disorder. Affiliated tissues include colon and small intestine, and related phenotype is behavior/neurological.

Related Diseases for Hypoganglionosis

Diseases related to Hypoganglionosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 166)
# Related Disease Score Top Affiliating Genes
1 intestinal obstruction 30.1 RET GDNF ACHE
2 megacolon 29.8 RET GDNF BLVRB ACHE
3 constipation 29.8 TH S100B RET GDNF
4 renal hypoplasia 29.6 RET GDNF
5 pyloric stenosis 29.4 RET GDNF BLVRB
6 intestinal pseudo-obstruction 29.4 SYP S100B RET ACHE
7 achalasia 29.3 RET GDNF BLVRB ACHE
8 hirschsprung disease 1 29.1 SYP RET NCAM1 GDNF BLVRB ACHE
9 enterocolitis 10.3
10 anal neuroendocrine tumor 10.3 SYP NCAM1
11 esophageal neuroendocrine tumor 10.3 SYP NCAM1
12 lung combined type small cell carcinoma 10.3 SYP NCAM1
13 pancreatic serous cystadenocarcinoma 10.3 SYP NCAM1
14 laryngeal small cell carcinoma 10.3 SYP NCAM1
15 gallbladder small cell carcinoma 10.3 SYP NCAM1
16 ureter small cell carcinoma 10.3 SYP NCAM1
17 papillary thymic adenocarcinoma 10.3 SYP NCAM1
18 glomangiosarcoma 10.3 SYP NCAM1
19 cerebellopontine angle primitive neuroectodermal tumor 10.3 SYP NCAM1
20 urinary bladder small cell neuroendocrine carcinoma 10.3 SYP NCAM1
21 gastric small cell carcinoma 10.3 SYP NCAM1
22 extracranial neuroblastoma 10.3 SYP NCAM1
23 sensory organ benign neoplasm 10.2 SYP NCAM1
24 cervical neuroblastoma 10.2 SYP NCAM1
25 laryngeal neuroendocrine tumor 10.2 SYP NCAM1
26 esophageal adenoid cystic carcinoma 10.2 SYP NCAM1
27 ovarian large-cell neuroendocrine carcinoma 10.2 SYP NCAM1
28 subependymoma 10.2 SYP NCAM1
29 cutaneous ganglioneuroma 10.2 SYP NCAM1
30 orbital cancer 10.2 SYP NCAM1
31 biliary tract benign neoplasm 10.2 SYP NCAM1
32 prostate stromal sarcoma 10.2 SYP NCAM1
33 endometrial small cell carcinoma 10.2 SYP NCAM1
34 glomangiomatosis 10.2 SYP NCAM1
35 pulmonary large cell neuroendocrine carcinoma 10.2 SYP NCAM1
36 large cell neuroendocrine carcinoma 10.2 SYP NCAM1
37 extraosseous ewing sarcoma 10.2 SYP NCAM1
38 prostate neuroendocrine neoplasm 10.2 SYP NCAM1
39 nasal cavity olfactory neuroblastoma 10.2 SYP NCAM1
40 olfactory nerve neoplasm 10.2 SYP NCAM1
41 breast neuroendocrine neoplasm 10.2 SYP NCAM1
42 cranial nerve malignant neoplasm 10.2 SYP NCAM1
43 mediastinal cancer 10.2 SYP NCAM1
44 pulmonary neuroendocrine tumor 10.2 SYP NCAM1
45 cranial nerve neoplasm 10.2 SYP NCAM1
46 binswanger's disease 10.2 SYP ACHE
47 pancreatic endocrine carcinoma 10.2 SYP NCAM1
48 cauda equina syndrome 10.2 SYP BLVRB
49 lung large cell carcinoma 10.1 SYP NCAM1
50 gangliocytoma 10.1 TH SYP

Graphical network of the top 20 diseases related to Hypoganglionosis:



Diseases related to Hypoganglionosis

Symptoms & Phenotypes for Hypoganglionosis

MGI Mouse Phenotypes related to Hypoganglionosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.17 ACHE GDNF NCAM1 RET S100B SYP

Drugs & Therapeutics for Hypoganglionosis

Drugs for Hypoganglionosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cola

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Systematic Review of Isolated Hypoganglionosis and Presentation of a New Case Complicated With Sigmoid Volvulus Completed NCT04363125

Search NIH Clinical Center for Hypoganglionosis

Genetic Tests for Hypoganglionosis

Anatomical Context for Hypoganglionosis

MalaCards organs/tissues related to Hypoganglionosis:

40
Colon, Small Intestine

Publications for Hypoganglionosis

Articles related to Hypoganglionosis:

(show top 50) (show all 255)
# Title Authors PMID Year
1
Rare case of adult intestinal hypoganglionosis and review of the literature. 61
33502729 2021
2
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans. 61
33497358 2021
3
A piglet model of iatrogenic rectosigmoid hypoganglionosis reveals the impact of the enteric nervous system on gut barrier function and microbiota postnatal development. 61
32680586 2021
4
Congenital Myenteric Hypoganglionosis. 61
33492848 2021
5
Diagnostic conundrums of hypoganglionosis that may delay timely, optimal treatment. 61
32803920 2020
6
A Case of Segmental Hypoganglionosis of the Colon. 61
33250475 2020
7
A case of severe megacolon due to acquired isolated hypoganglionosis after low anterior resection for lower rectal cancer. 61
31828729 2020
8
Hypoganglionosis in the gastric antrum causes delayed gastric emptying. 61
31773831 2020
9
Acquired segmental sigmoid hypoganglionosis: A case report. 61
31977872 2020
10
Surgery, Surgical Pathology, and Postoperative Management of Patients With Hirschsprung Disease. 61
31747833 2020
11
[Adult case of hypoganglionosis of the colon with a skip lesion: a case report]. 61
32161245 2020
12
Atypical Presentation of Acquired Hypoganglionosis in a Patient Taking Clozapine. 61
32670642 2020
13
Why Do the Patients with Hirschsprung Disease Get Redo Pull-Through Operation? 61
30068008 2019
14
Comparison of laparoscopic selective colectomy based on barium-strip examination and subtotal colectomy for adult slow-transit constipation. 61
31687156 2019
15
Remodeling of Rectal Innervation After Pullthrough Surgery for Hirschsprung Disease: Relevance to Criteria for the Determination of Retained Transition Zone. 61
30541422 2019
16
Retinoic acid receptor beta variant-related colonic hypoganglionosis. 61
30790422 2019
17
Laparoscopic Redo Pull-Through for Hirschsprung Disease Due to Innervation Disorders. 61
30461345 2019
18
Histological characteristics of eosinophilic myenteric ganglionitis: an under-recognised cause of chronic intestinal pseudo-obstruction. 61
30607555 2019
19
Acquired segmental colonic hypoganglionosis in an adult Caucasian male: A case report. 61
30842816 2019
20
Acquired isolated hypoganglionosis as a distinct entity: results from a nationwide survey. 61
30456687 2019
21
Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease. 61
30416639 2019
22
Impaired Expression of Neuregulin 1 and Nicotinic Acetylcholine Receptor β4 Subunit in Diverticular Disease. 61
31920561 2019
23
Colonic Pseudo-obstruction With Transition Zone: A Peculiar Eastern Severe Dysmotility. 61
30646485 2019
24
Gut microbiota-mediated Gene-Environment interaction in the TashT mouse model of Hirschsprung disease. 61
30679567 2019
25
Correlation of spatio-temporal characteristics of intestinal inflammation with IL-17 in a rat model of hypoganglionosis. 61
30401564 2018
26
Causes and prognosis of chronic intestinal pseudo-obstruction in 48 subjects: A 10-year retrospective case series. 61
30200110 2018
27
A Rare Case of Adult-Onset Rectosigmoid Hypoganglionosis. 61
29755106 2018
28
Japanese clinical practice guidelines for allied disorders of Hirschsprung's disease, 2017. 61
29878629 2018
29
A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation. 61
29681101 2018
30
Alteration of the Retinoid Acid-CBP Signaling Pathway in Neural Crest Induction Contributes to Enteric Nervous System Disorder. 61
30560112 2018
31
Diagnostic use of endoscopic full-thickness wall resection (eFTR)-a novel minimally invasive technique for colonic tissue sampling in patients with severe gastrointestinal motility disorders. 61
28681569 2018
32
Role of ano rectal myomectomy in children with chronic refractory constipation. 61
30829306 2018
33
[Choice of surgical procedures and control of surgical risks in chronic constipation]. 61
29280111 2017
34
Appendicular Biopsy in Total Colonic Aganglionosis: A Histologically Challenging and Inadvisable Practice. 61
28727975 2017
35
Immunostaining for Hu C/D and CD56 is useful for a definitive histopathological diagnosis of congenital and acquired isolated hypoganglionosis. 61
28424865 2017
36
Guidelines for the management of postoperative obstructive symptoms in children with Hirschsprung disease. 61
28180937 2017
37
Advances in understanding functional variations in the Hirschsprung disease spectrum (variant Hirschsprung disease). 61
27988850 2017
38
Intestinal Hypoganglionosis Leading to Intestinal Failure and the Compassionate Use of Omegaven™. 61
28401057 2017
39
European Paediatric Surgeons' Association Survey on the Management of Hirschsprung Disease. 61
27898990 2017
40
Combination of exogenous cell transplantation and 5-HT4 receptor agonism induce endogenous enteric neural crest-derived cells in a rat hypoganglionosis model. 61
28034674 2017
41
Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report. 61
27270827 2017
42
Isolated hypoganglionosis in young man with autism. 61
28029603 2017
43
The incidence and outcome of allied disorders of Hirschsprung's disease in Japan: Results from a nationwide survey. 61
26216257 2017
44
Histology of the Transition Zone in Hirschsprung Disease. 61
27526297 2016
45
Mutation in Actin γ-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients. 61
27007401 2016
46
Decreased expression of NEDL2 in Hirschsprung's disease. 61
27430863 2016
47
Male-specific colon motility dysfunction in the TashT mouse line. 61
27278627 2016
48
Extrinsic innervation of ileum and pelvic flexure of foals with ileocolonic aganglionosis. 61
27230228 2016
49
A Time-Limited and Partially Reversible Model of Hypoganglionosis Induced by Benzalkonium Chloride Treatment. 61
26738989 2016
50
Effectiveness of Bortezomib in a Patient With Acute Rejection Associated With an Elevation of Donor-Specific HLA Antibodies After Small-Bowel Transplantation: Case Report. 61
27109992 2016

Variations for Hypoganglionosis

Expression for Hypoganglionosis

Search GEO for disease gene expression data for Hypoganglionosis.

Pathways for Hypoganglionosis

GO Terms for Hypoganglionosis

Cellular components related to Hypoganglionosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.26 TH SYP S100B ACHE
2 terminal bouton GO:0043195 8.8 TH SYP BLVRB

Biological processes related to Hypoganglionosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.58 RET NCAM1 GDNF
2 axon guidance GO:0007411 9.5 RET NCAM1 GDNF
3 neural crest cell migration GO:0001755 9.43 RET GDNF
4 ureteric bud development GO:0001657 9.37 RET GDNF
5 enteric nervous system development GO:0048484 9.26 RET GDNF
6 neurotransmitter biosynthetic process GO:0042136 9.16 TH ACHE
7 commissural neuron axon guidance GO:0071679 8.96 NCAM1 GDNF
8 regulation of semaphorin-plexin signaling pathway GO:2001260 8.62 NCAM1 GDNF

Molecular functions related to Hypoganglionosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 TH SYP S100B NCAM1 ACHE
2 protein self-association GO:0043621 8.96 SYP ACHE

Sources for Hypoganglionosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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