Hypoganglionosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HYP572 MIFTS: 27	Hypoganglionosis Categories: Gastrointestinal diseases, Rare diseases
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Aliases & Classifications for Hypoganglionosis

MalaCards integrated aliases for Hypoganglionosis:

Name: Hypoganglionosis ²⁰

Intestinal Hypoganglionosis ²⁰

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Gastrointestinal diseases

See all MalaCards categories (disease lists)

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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.

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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:

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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

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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

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Genetic Tests for Hypoganglionosis

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Anatomical Context for Hypoganglionosis

MalaCards organs/tissues related to Hypoganglionosis:

⁴⁰

Colon, Small Intestine

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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	Lee A...Lim JT	33502729	2021
2	Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans. ⁶¹	Le TL...Bondurand N	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	Arnaud AP...Boudry G	32680586	2021
4	Congenital Myenteric Hypoganglionosis. ⁶¹	Kapur RP...Zuppan CW	33492848	2021
5	Diagnostic conundrums of hypoganglionosis that may delay timely, optimal treatment. ⁶¹	Alzubedi A...Rudzki S	32803920	2020
6	A Case of Segmental Hypoganglionosis of the Colon. ⁶¹	Yamagishi A...Yoshida H	33250475	2020
7	A case of severe megacolon due to acquired isolated hypoganglionosis after low anterior resection for lower rectal cancer. ⁶¹	Tominaga T...Ueno M	31828729	2020
8	Hypoganglionosis in the gastric antrum causes delayed gastric emptying. ⁶¹	Baker C...Hotta R	31773831	2020
9	Acquired segmental sigmoid hypoganglionosis: A case report. ⁶¹	Pan ZP...Cui JH	31977872	2020
10	Surgery, Surgical Pathology, and Postoperative Management of Patients With Hirschsprung Disease. ⁶¹	Smith C...Kapur RP	31747833	2020
11	[Adult case of hypoganglionosis of the colon with a skip lesion: a case report]. ⁶¹	Watahiki Y...Ohira H	32161245	2020
12	Atypical Presentation of Acquired Hypoganglionosis in a Patient Taking Clozapine. ⁶¹	Gisi C...Eysselein V	32670642	2020
13	Why Do the Patients with Hirschsprung Disease Get Redo Pull-Through Operation? ⁶¹	Han JW...Park KW	30068008	2019
14	Comparison of laparoscopic selective colectomy based on barium-strip examination and subtotal colectomy for adult slow-transit constipation. ⁶¹	Zhong ZH...Huang X	31687156	2019
15	Remodeling of Rectal Innervation After Pullthrough Surgery for Hirschsprung Disease: Relevance to Criteria for the Determination of Retained Transition Zone. ⁶¹	Kapur RP...Mast KJ	30541422	2019
16	Retinoic acid receptor beta variant-related colonic hypoganglionosis. ⁶¹	Foster KJ...Greenspon J	30790422	2019
17	Laparoscopic Redo Pull-Through for Hirschsprung Disease Due to Innervation Disorders. ⁶¹	Jiang M...Tang ST	30461345	2019
18	Histological characteristics of eosinophilic myenteric ganglionitis: an under-recognised cause of chronic intestinal pseudo-obstruction. ⁶¹	Akazawa Y...Yao T	30607555	2019
19	Acquired segmental colonic hypoganglionosis in an adult Caucasian male: A case report. ⁶¹	Kwok AM...Hart K	30842816	2019
20	Acquired isolated hypoganglionosis as a distinct entity: results from a nationwide survey. ⁶¹	Obata S...Taguchi T	30456687	2019
21	Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease. ⁶¹	Sreedher G...Ganapathy SS	30416639	2019
22	Impaired Expression of Neuregulin 1 and Nicotinic Acetylcholine Receptor β4 Subunit in Diverticular Disease. ⁶¹	Barrenschee M...Wedel T	31920561	2019
23	Colonic Pseudo-obstruction With Transition Zone: A Peculiar Eastern Severe Dysmotility. ⁶¹	Song EM...Myung SJ	30646485	2019
24	Gut microbiota-mediated Gene-Environment interaction in the TashT mouse model of Hirschsprung disease. ⁶¹	Toure AM...Pilon N	30679567	2019
25	Correlation of spatio-temporal characteristics of intestinal inflammation with IL-17 in a rat model of hypoganglionosis. ⁶¹	Yu H...Zheng BJ	30401564	2018
26	Causes and prognosis of chronic intestinal pseudo-obstruction in 48 subjects: A 10-year retrospective case series. ⁶¹	Lu W...Cai W	30200110	2018
27	A Rare Case of Adult-Onset Rectosigmoid Hypoganglionosis. ⁶¹	Aldossary MY...Sabr K	29755106	2018
28	Japanese clinical practice guidelines for allied disorders of Hirschsprung's disease, 2017. ⁶¹	Muto M...Yamasaki T	29878629	2018
29	A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation. ⁶¹	Akutsu Y...Inoue K	29681101	2018
30	Alteration of the Retinoid Acid-CBP Signaling Pathway in Neural Crest Induction Contributes to Enteric Nervous System Disorder. ⁶¹	Li C...Li T	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	Valli PV...Bauerfeind P	28681569	2018
32	Role of ano rectal myomectomy in children with chronic refractory constipation. ⁶¹	Redkar RG...Tewari S	30829306	2018
33	[Choice of surgical procedures and control of surgical risks in chronic constipation]. ⁶¹	Sui J...Zhang W	29280111	2017
34	Appendicular Biopsy in Total Colonic Aganglionosis: A Histologically Challenging and Inadvisable Practice. ⁶¹	Mohanty S...Deb M	28727975	2017
35	Immunostaining for Hu C/D and CD56 is useful for a definitive histopathological diagnosis of congenital and acquired isolated hypoganglionosis. ⁶¹	Yoshimaru K...Oda Y	28424865	2017
36	Guidelines for the management of postoperative obstructive symptoms in children with Hirschsprung disease. ⁶¹	Langer JC...American Pediatric Surgical Association Hirschsprung Disease Interest Group	28180937	2017
37	Advances in understanding functional variations in the Hirschsprung disease spectrum (variant Hirschsprung disease). ⁶¹	Moore SW	27988850	2017
38	Intestinal Hypoganglionosis Leading to Intestinal Failure and the Compassionate Use of Omegaven™. ⁶¹	Khalaf R...Shakeel F	28401057	2017
39	European Paediatric Surgeons' Association Survey on the Management of Hirschsprung Disease. ⁶¹	Zani A...EUPSA Network Office	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	Yu H...Gao Y	28034674	2017
41	Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report. ⁶¹	Yasui Y...Niida Y	27270827	2017
42	Isolated hypoganglionosis in young man with autism. ⁶¹	Gabbani T...Biagini MR	28029603	2017
43	The incidence and outcome of allied disorders of Hirschsprung's disease in Japan: Results from a nationwide survey. ⁶¹	Taguchi T...Tomomasa T	26216257	2017
44	Histology of the Transition Zone in Hirschsprung Disease. ⁶¹	Kapur RP	27526297	2016
45	Mutation in Actin γ-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients. ⁶¹	Lu W...Cai W	27007401	2016
46	Decreased expression of NEDL2 in Hirschsprung's disease. ⁶¹	O'Donnell AM...Puri P	27430863	2016
47	Male-specific colon motility dysfunction in the TashT mouse line. ⁶¹	Toure AM...Pilon N	27278627	2016
48	Extrinsic innervation of ileum and pelvic flexure of foals with ileocolonic aganglionosis. ⁶¹	Giancola F...Chiocchetti R	27230228	2016
49	A Time-Limited and Partially Reversible Model of Hypoganglionosis Induced by Benzalkonium Chloride Treatment. ⁶¹	Yu H...Gao Y	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	Fujiwara S...Nio M	27109992	2016

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Genes for Hypoganglionosis

Genes related to Hypoganglionosis (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NCAM1	Neural Cell Adhesion Molecule 1	Protein Coding	6.85	GeneCards inferred via : Publications (show sections)
2	SYP	Synaptophysin	Protein Coding	6.85	GeneCards inferred via : Publications (show sections)
3	ACHE	Acetylcholinesterase (Cartwright Blood Group)	Protein Coding	6.5	GeneCards inferred via : Publications (show sections)
4	BLVRB	Biliverdin Reductase B	Protein Coding	6.5	GeneCards inferred via : Publications (show sections)
5	GDNF	Glial Cell Derived Neurotrophic Factor	Protein Coding	6.5	GeneCards inferred via : Publications (show sections)
6	RET	Ret Proto-Oncogene	Protein Coding	6.5	GeneCards inferred via : Publications (show sections)
7	S100B	S100 Calcium Binding Protein B	Protein Coding	6.5	GeneCards inferred via : Publications (show sections)
8	TH	Tyrosine Hydroxylase	Protein Coding	6.5	GeneCards inferred via : Publications (show sections)

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Variations for Hypoganglionosis

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Expression for Hypoganglionosis

Search GEO for disease gene expression data for Hypoganglionosis.

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Pathways for Hypoganglionosis

Pathways related to Hypoganglionosis according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Neuroscience ⁴	11.89	TH SYP S100B RET NCAM1
2	ATF-2 transcription factor network ¹	11.22	TH ACHE
3	Monoamine Transport ¹ Show member pathways Serotonin Transporter Activity ¹	11.09	TH ACHE
4	Signaling events regulated by Ret tyrosine kinase ¹	10.98	RET GDNF
5	NCAM1 interactions ⁶⁵	10.94	NCAM1 GDNF
6	Neural Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁴	10.92	TH SYP S100B NCAM1 GDNF
7	Dopaminergic Neurogenesis ¹	10.8	TH RET
8	Biogenic Amine Synthesis ¹ Show member pathways catecholamine biosynthesis ¹ Catecholamine biosynthesis ⁶⁵	10.6	TH ACHE
9	Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) ⁶⁰	10.23	TH ACHE
10	RNAi Pathway ⁶³	9.91	RET GDNF

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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

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Sources for Hypoganglionosis

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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia