MCID: HYP572
MIFTS: 30

Hypoganglionosis

Categories: Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Hypoganglionosis

MalaCards integrated aliases for Hypoganglionosis:

Name: Hypoganglionosis 53
Intestinal Hypoganglionosis 53

Classifications:



Summaries for Hypoganglionosis

NIH Rare Diseases : 53 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 pseudo-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. Affiliated tissues include colon and smooth muscle, and related phenotypes are behavior/neurological and nervous system

Related Diseases for Hypoganglionosis

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

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 intestinal pseudo-obstruction 29.5 RET SYP
2 megacolon 29.4 ACHE GDNF RET
3 hirschsprung disease 1 26.7 ACHE BLVRB GDNF NCAM1 RET SYP
4 esophageal neuroendocrine tumor 10.7 NCAM1 SYP
5 ovarian large-cell neuroendocrine carcinoma 10.7 NCAM1 SYP
6 lung combined type small cell carcinoma 10.7 NCAM1 SYP
7 sensory organ benign neoplasm 10.7 NCAM1 SYP
8 gallbladder small cell carcinoma 10.7 NCAM1 SYP
9 cutaneous ganglioneuroma 10.7 NCAM1 SYP
10 extrahepatic bile duct adenocarcinoma 10.7 NCAM1 SYP
11 orbital cancer 10.7 NCAM1 SYP
12 pancreatic endocrine carcinoma 10.6 NCAM1 SYP
13 pancreatic serous cystadenoma 10.6 NCAM1 SYP
14 conventional angiosarcoma 10.6 NCAM1 SYP
15 endometrial small cell carcinoma 10.6 NCAM1 SYP
16 mediastinal cancer 10.6 NCAM1 SYP
17 angiomyoma 10.6 NCAM1 SYP
18 gastric squamous cell carcinoma 10.6 NCAM1 SYP
19 gastric small cell carcinoma 10.6 NCAM1 SYP
20 subependymoma 10.6 NCAM1 SYP
21 cervical clear cell adenocarcinoma 10.6 NCAM1 SYP
22 spermatocele 10.6 NCAM1 SYP
23 cervix small cell carcinoma 10.6 NCAM1 SYP
24 large cell neuroendocrine carcinoma 10.6 NCAM1 SYP
25 mixed ductal-endocrine carcinoma 10.6 NCAM1 SYP
26 adrenal rest tumor 10.6 NCAM1 SYP
27 binswanger's disease 10.5 ACHE SYP
28 lung benign neoplasm 10.5 NCAM1 SYP
29 colonic pseudo-obstruction 10.5 ACHE SYP
30 gangliocytoma 10.4 SYP TH
31 small cell carcinoma 10.4 NCAM1 SYP
32 large cell carcinoma 10.4 NCAM1 SYP
33 myxopapillary ependymoma 10.3 NCAM1 S100B
34 primary hepatic neuroendocrine carcinoma 10.3 S100B SYP
35 mixed type thymoma 10.3 S100B SYP
36 chordoid meningioma 10.3 S100B SYP
37 dysembryoplastic neuroepithelial tumor 10.3 S100B SYP
38 rosette-forming glioneuronal tumor 10.3 S100B SYP
39 perineurioma 10.3 NCAM1 S100B
40 melanotic neuroectodermal tumor 10.3 S100B SYP
41 angiocentric glioma 10.3 S100B SYP
42 tendinosis 10.3 ACHE TH
43 pineocytoma 10.3 S100B SYP
44 pure autonomic failure 10.3 ACHE TH
45 anaplastic ependymoma 10.3 S100B SYP
46 papillary ependymoma 10.3 S100B SYP
47 merkel cell carcinoma 10.3 NCAM1 SYP
48 subependymal giant cell astrocytoma 10.3 S100B SYP
49 papilloma of choroid plexus 10.3 S100B SYP
50 olfactory neuroblastoma 10.2 S100B 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 9.5 ACHE GDNF NCAM1 RET S100B SYP
2 nervous system MP:0003631 9.1 ACHE GDNF NCAM1 RET SYP TH

Drugs & Therapeutics for Hypoganglionosis

Search Clinical Trials , NIH Clinical Center for Hypoganglionosis

Genetic Tests for Hypoganglionosis

Anatomical Context for Hypoganglionosis

MalaCards organs/tissues related to Hypoganglionosis:

41
Colon, Smooth Muscle

Publications for Hypoganglionosis

Articles related to Hypoganglionosis:

(show all 39)
# Title Authors Year
1
A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation. ( 29681101 )
2018
2
A Rare Case of Adult-Onset Rectosigmoid Hypoganglionosis. ( 29755106 )
2018
3
Isolated hypoganglionosis in young man with autism. ( 28029603 )
2017
4
Intestinal Hypoganglionosis Leading to Intestinal Failure and the Compassionate Use of Omegavena8c. ( 28401057 )
2017
5
Immunostaining for Hu C/D and CD56 is useful for a definitive histopathological diagnosis of congenital and acquired isolated hypoganglionosis. ( 28424865 )
2017
6
Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report. ( 27270827 )
2016
7
A Time-Limited and Partially Reversible Model of Hypoganglionosis Induced by Benzalkonium Chloride Treatment. ( 26738989 )
2016
8
Combination of exogenous cell transplantation and 5-HT4 receptor agonism induce endogenous enteric neural crest-derived cells in a rat hypoganglionosis model. ( 28034674 )
2016
9
Pseudo-Hirschsprung's disease with rectal hypoganglionosis: An autopsied case of circulatory failure due to severe constipation. ( 25497871 )
2015
10
Early jejunostomy creation in cases of isolated hypoganglionosis: verification of our own experience based on a national survey. ( 25577302 )
2015
11
Isolated hypoganglionosis: results of a nationwide survey in Japan. ( 23975018 )
2013
12
Hypoganglionosis in pregnancy: a case report. ( 22974065 )
2012
13
Isolated adult hypoganglionosis presenting as sigmoid volvulus: a case report. ( 21902826 )
2011
14
Congenital hypothyroidism with severe hypoganglionosis of the colon in a 10 years old girl, a case report. ( 23409402 )
2011
15
Novel classification and pathogenetic analysis of hypoganglionosis and adult-onset Hirschsprung's disease. ( 21222160 )
2011
16
Loss of Sprouty2 partially rescues renal hypoplasia and stomach hypoganglionosis but not intestinal aganglionosis in Ret Y1062F mutant mice. ( 21070764 )
2011
17
A preliminary report on the significance of excessively long segment congenital hypoganglionosis management during early infancy. ( 21843726 )
2011
18
Congenital large intestinal hypoganglionosis in a domestic shorthair kitten. ( 20417903 )
2010
19
Megacolon, hypoganglionosis, and cerebrovascular disease. ( 20521739 )
2010
20
Isolated hypoganglionosis: systematic review of a rare intestinal innervation defect. ( 20721562 )
2010
21
Patterns of postoperative enterocolitis in children with Hirschsprung's disease combined with hypoganglionosis. ( 19573669 )
2009
22
Hypoganglionic colorectum in the chick embryo: a model of human hypoganglionosis. ( 19680664 )
2009
23
Perturbation of hoxb5 signaling in vagal neural crests down-regulates ret leading to intestinal hypoganglionosis in mice. ( 18395091 )
2008
24
Diagnosis and surgical treatment of isolated hypoganglionosis. ( 19104894 )
2008
25
Hirschsprung disease and hypoganglionosis in adults: radiologic findings and differentiation. ( 18430875 )
2008
26
Megacolon in an adult case of hypoganglionosis, a pseudo-Hirschsprung's disease: an autopsy study. ( 18310975 )
2008
27
Are there any functional differences of nitric oxide between the transitional segment in Hirschsprung's disease and the diseased colon in hypoganglionosis? ( 18795669 )
2008
28
[Hypoganglionosis as a cause of chronic constipation]. ( 17277919 )
2007
29
Pathophysiological role of the cholinergic and adrenergic nerves in patients with allied disorders of Hirschsprung's disease (intestinal neuronal dysplasia and hypoganglionosis)--an in vitro experiment. ( 17591049 )
2007
30
Assessments of anorectal myectomy for short segment hypoganglionosis in childhood. ( 17419238 )
2007
31
New classification of hypoganglionosis: congenital and acquired hypoganglionosis. ( 17161202 )
2006
32
Acute intermittent porphyria associated with hypoganglionosis in a young adult. ( 16531540 )
2006
33
Overexpression of neural cell adhesion molecule (NCAM) antigens on intestinal smooth muscles in hypoganglionosis: is hypoganglionosis a disorder of the neuromuscular junction? ( 12811479 )
2003
34
Submucosal hypoganglionosis causing chronic idiopathic intestinal pseudo-obstruction. ( 11873768 )
2002
35
Abnormalities of C-Kit-positive cellular network in isolated hypoganglionosis. ( 11987084 )
2002
36
Mutational analysis of the RET and GDNF gene in children with hypoganglionosis. ( 11371032 )
2001
37
Morphological investigation of the enteric nervous system in Hirschsprung's disease and hypoganglionosis using whole-mount colon preparation. ( 10211651 )
1999
38
Megacolon with myenteric hypoganglionosis in a foal. ( 3366678 )
1988
39
Adult megacolon due to total hypoganglionosis. ( 3756447 )
1986

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 neuronal cell body GO:0043025 9.33 RET S100B TH
2 neuromuscular junction GO:0031594 8.96 ACHE SYP
3 terminal bouton GO:0043195 8.8 BLVRB SYP TH

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.5 GDNF NCAM1 RET
2 retina development in camera-type eye GO:0060041 9.43 ACHE RET
3 axon guidance GO:0007411 9.43 GDNF NCAM1 RET
4 ureteric bud development GO:0001657 9.4 GDNF RET
5 neural crest cell migration GO:0001755 9.37 GDNF RET
6 regulation of neuronal synaptic plasticity GO:0048168 9.16 S100B SYP
7 neurotransmitter biosynthetic process GO:0042136 8.96 ACHE TH
8 enteric nervous system development GO:0048484 8.62 GDNF RET

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

# Name GO ID Score Top Affiliating Genes
1 protein self-association GO:0043621 8.96 ACHE SYP
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.8 GDNF NCAM1 RET

Sources for Hypoganglionosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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