Intestinal Pseudo-obstruction malady

NIH Rare Diseases: Intestinal pseudo-obstruction is a digestive disorder in which the intestinal walls are unable to contract normally (called hypomotility); the condition resembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive; and other symptoms. It may be classified as neuropathic (from lack of nerve function) or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner) and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms and ensure that nutritional support is adequate.³⁰

MalaCards: Intestinal Pseudo-obstruction, also known as intestinal pseudoobstruction, is related to pulmonary disease and apnea. An important gene associated with Intestinal Pseudo-obstruction is SOX10 (SRY (sex determining region Y)-box 10), and among its related pathways are Bacterial infections in CF airways and G alpha (q) signalling events. The compounds Monoisopropylphosphorylserine and sodium nitroprusside have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, and related mouse phenotypes are liver/biliary system and endocrine/exocrine gland.

Genetics Home Reference: Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic).¹⁷

Wikipedia: Intestinal Pseudo-obstruction is a clinical syndrome caused by severe impairment in the ability of the...⁴⁴ more...

Aliases & Descriptions:

intestinal pseudo-obstruction 6 30 17 8 32 43 intestinal pseudoobstruction 7 30 congenital idiopathic intestinal pseudoobstruction 43 chronic idiopathic intestinal pseudo-obstruction 17 pseudo-obstruction of gastrointestinal tract 43 pseudo-obstruction of intestine (disorder) 6 pseudointestinal obstruction syndrome 17 congenital short bowel syndrome 17 intestine pseudoobstruction 6

pseudoobstructive syndrome 17 neonatal hemochromatosis 43 hollow visceral myopathy 30 enteric neuropathy 17 obstruction 43 neuropathy 43 ciip 17 ipo 17

Diseases related to intestinal pseudo-obstruction by text searches and GeneDecks gene sharing:

(show top 50)    (show all 970)

id	Related Disease	Score	Top Affiliating Genes
1	pulmonary disease	34.7	RET, CFTR, FAS, ALB, TNF, EDN3
2	apnea	34.2	RET, ALB, TNF, SST, EDN3
3	sleep apnea	34.2	RET, ALB, TNF, SST, EDN3
4	mitochondrial neurogastrointestinal encephalopathy disease	32.0	TYMP, POLG
5	obstructive lung disease	31.8	FAS, ALB, TNF
6	colonic pseudo-obstruction	31.1	MLNR, ACHE
7	azoospermia	30.6	CFTR, FAS, GNRH1, POLG
8	thymoma	29.9	B2M, FAS, SST, ACHE
9	hydrocephalus	29.7	L1CAM, FLNA, FAS, ACHE
10	intestinal obstruction	29.4	RET, CFTR, FLNA, ALB, EDN3, EDNRB
11	hearing loss	28.8	MT-TL1, FLNA, TNF, EDNRB, SOX10, POLG
12	hirschsprung's disease	28.8	RET, L1CAM, SST, EDN3, EDNRB, ACHE
13	peripheral neuropathy	28.4	ALB, TNF, TYMP, SOX10, POLG
14	type 1 diabetes mellitus	28.3	B2M, MLNR, ALB, SST
15	pulmonary hypertension	28.3	B2M, ALB, TNF, SST, EDN3, EDNRB
16	gastric adenocarcinoma	28.1	FAS, TNF, SST, TYMP, PRSS1
17	postural hypotension	28.1	SST, ACHE
18	ophthalmoplegia	28.0	ATXN7, TYMP, POLG
19	bronchial asthma	27.8	CFTR, ALB, TNF, SST
20	amyloidosis	27.7	RET, B2M, FAS, ALB, TNF
21	polyneuropathy	27.6	MT-TL1, B2M, ALB, TNF, SST, ACHE
22	peripheral nervous system disease	27.4	B2M, POLG
23	neuropathy	27.4	B2M, ATXN7, MLNR, FAS, ALB, TNF
24	nephropathy	27.3	B2M, FAS, ALB, TNF, SST, SPINK1
25	hairy cell leukemia	27.2	B2M, FAS, ALB, TNF
26	myopathy	27.0	MT-TL1, FAS, ALB, TNF, ACHE, ACTA1
27	ileus	26.9	MLNR, TNF, SST, TYMP
28	pulmonary fibrosis	26.9	ALB, TNF, SST, EDN3, EDNRB
29	ischemia	26.9	B2M, FAS, ALB, TNF, SST, SMTN
30	male infertility	26.8	CFTR, GNRH1, POLG
31	mayer-rokitansky-kuster-hauser syndrome	26.8	RET, CFTR, FLNA, EDNRB, POLG
32	influenza	26.7	B2M, CFTR, FAS, ALB, TNF, PRSS1
33	orthostatic hypotension	26.6	ALB, SST, ACHE
34	polycystic kidney disease	26.5	CFTR, ALB, TNF, SST, EDNRB
35	respiratory failure	26.3	CFTR, ALB, TNF, ACHE, ACTA1
36	diabetes mellitus	25.9	RET, MT-TL1, B2M, CFTR, MLNR, FAS
37	type 2 diabetes mellitus	25.9	MT-TL1, B2M, CFTR, ALB, GNRH1, TNF
38	acute pancreatitis	25.7	B2M, CFTR, ALB, TNF, SST, SPINK1
39	cholangitis	25.7	CFTR, ALB, TNF, SST
40	infertility	25.7	CFTR, FAS, ALB, GNRH1, TNF, SST
41	was-related disorders	25.7	B2M, CFTR, FLNA, GNRH1, ACHE, POLG
42	non-small cell lung carcinoma	25.6	FAS, TNF, SST, EDNRB, TYMP, PRSS1
43	dementia	25.4	B2M, L1CAM, ATXN7, FAS, ALB, TNF
44	obesity	25.3	B2M, FAS, ALB, GNRH1, TNF, SST
45	osteoporosis	25.2	B2M, CFTR, FAS, ALB, GNRH1, TNF
46	endometriosis	25.1	L1CAM, FAS, GNRH1, TNF, SPINK1, TYMP
47	waardenburg's syndrome	25.1	RET, EDN3, EDNRB, SOX10
48	hepatic encephalopathy	25.0	ALB, TNF, SST
49	congenital hypothyroidism	25.0	ALB, TNF, ACHE
50	ptosis	24.9	FAS, ACHE, TYMP, POLG

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to intestinal pseudo-obstruction:

²²

MGI Mouse Phenotypes related to intestinal pseudo-obstruction:

²⁵ (show all 18)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system phenotype	MP:0005370	9.4	ACTA1, FLNA, CFTR
2	endocrine/exocrine gland phenotype	MP:0005379	9.2	SOX10, GNRH1, RET
3	pigmentation phenotype	MP:0001186	8.9	POLG, SOX10, EDNRB, EDN3, FAS, L1CAM
4	no phenotypic analysis	MP:0003012	8.6	POLG, ACHE, EDNRB, SST, L1CAM, RET
5	integument phenotype	MP:0010771	8.3	POLG, SOX10, EDNRB, EDN3, SMTN, GNRH1
6	nervous system phenotype	MP:0003631	8.2	SOX10, TLX2, TYMP, ACHE, EDNRB, EDN3
7	skeleton phenotype	MP:0005390	8.1	POLG, TYMP, ACTA1, EDNRB, GNRH1, FAS
8	craniofacial phenotype	MP:0005382	7.7	TLX2, ACHE, EDNRB, TNF, FAS, FLNA
9	muscle phenotype	MP:0005369	7.5	POLG, ACTA1, ACHE, EDNRB, SMTN, TNF
10	vision/eye phenotype	MP:0005391	7.4	ACTA1, ACHE, EDNRB, TNF, FAS, FLNA
11	mortality/aging	MP:0010768	6.8	EDNRB, ACHE, TLX2, SOX10, POLG, EDN3
12	immune system phenotype	MP:0005387	6.7	POLG, TYMP, EDNRB, SMTN, SPINK1, SST
13	cellular phenotype	MP:0005384	6.5	SOX10, TYMP, EDNRB, TNF, GNRH1, FAS
14	reproductive system phenotype	MP:0005389	6.5	GNRH1, TNF, SMTN, ACHE, POLG, FAS
15	behavior/neurological phenotype	MP:0005386	6.2	EDN3, EDNRB, ACHE, ACTA1, SOX10, SST
16	homeostasis/metabolism phenotype	MP:0005376	5.4	SST, SPINK1, EDNRB, ACHE, ACTA1, TYMP
17	growth/size phenotype	MP:0005378	5.1	SPINK1, SMTN, EDNRB, ACHE, ACTA1, TLX2
18	digestive/alimentary phenotype	MP:0005381	5.0	RET, POLG, SOX10, TLX2, EDNRB, EDN3

Articles related to intestinal pseudo-obstruction:

(show all 20)

id	Title	Authors	Year	Affiliating Genes
1	Polymorphisms of the RET gene in hirschsprung disease , anorectal malformation and intestinal pseudo-obstruction in Taiwan. (20123584)	Wu T.T.... Li C.	2010	RET
2	Frequency of Mitochondrial Defects in Patients With Chronic Intestinal Pseudo-Obstruction. (19344718)	Amiot A.... LombA"s A.	2009	POLG, TYMP, MT-TL1
3	Intestinal pseudo-obstruction associated with polymyositis successfully treated with somatostatin analog (18323156)	Takakusaki S.... Mori M.	2008	SST
4	A case of chronic intestinal pseudo-obstruction secon dary to primary visceral myopathy. (18779848)	Shim L.S.... Kalantar J.S.	2008	ALB
5	Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis. (18955007)	Verny C.... Bonneau D.	2008	CFTR, PRSS1, TYMP
6	Neurogenic chronic intestinal pseudo-obstruction: antineuronal antibody-mediated activation of autophagy via Fas. (18582468)	De Giorgio R.... Wiley J.W.	2008	FAS
7	Chronic intestinal pseudo-obstruction due to busereli n-induced formation of anti-GnRH antibodies. (17241858)	Ohlsson B.... Wallmark A.	2007	GNRH1
8	Visceral neuropathy and intestinal pseudo-obstruction in a murine model of a nuclear inclusion disease. (18054568)	Clarke C.M.... Kapur R.P.	2007	ATXN7
9	Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. (17357080)	Gargiulo A.... Auricchio A.	2007	FLNA
10	Intestinal pseudo-obstruction as initial presentation of thymoma. (17090854)	Musthafa C.P.... Balakrishnan V.	2006	ACHE
11	Intestinal pseudo-obstruction as a manifestation of tumor necrosis factor receptor-associated periodic syndrome. (16865571)	Marie I.... Levesque H.	2006	TNF
12	Octreotide treatment for paraneoplastic intestinal pseudo-obstruction complicating SCLC. (15777981)	SA... Waldum H.L.	2005	SST
13	Evaluation of Hox11L1 in the fmc/fmc rat model of chronic intestinal pseudo-obstruction. (16291166)	Parisi M.A.... Kapur R.P.	2005	TLX2
14	Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius. (15368500)	Bott L.... Gottrand F.	2004	L1CAM
15	Deficient alpha smooth muscle actin expression as a cause of intestinal pseudo-obstruction: fact or fiction? (15509678)	Gamba E.... Bateman A.C.	2004	ACTA1
16	SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. (12189494)	Pingault V.... Goossens M.	2002	EDNRB, EDN3, SOX10
17	Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental 'neural crest syndrome' related to a SOX10 mutation. (11026454)	Pingault V.... Landrieu P.	2000	SOX10
18	Effects of erythromycin in chronic idiopathic intestinal pseudo-obstruction. (9027652)	Minami T.... Matsuzawa Y.	1996	MLNR
19	Intestinal pseudo-obstruction and ischemia secondary to both beta 2-microglobulin and serum A amyloid deposition. (7675780)	Borczuk A.... Alt E.	1995	B2M
20	Intestinal pseudo-obstruction in patients with amyloidosis: clinicopathologic differences between chemical types of amyloid protein. (8244111)	Tada S.... Fujishima M.	1993	B2M

Genes related to intestinal pseudo-obstruction according to GeneCards:

(show all 24)

id	Symbol	Description	Score	GeneCards Section Context
1	SOX10	SRY (sex determining region Y)-box 10	11.1	Publications
2	B2M	beta-2-microglobulin	11.1	Publications
3	SST	somatostatin	11.1	Publications
4	ACHE	acetylcholinesterase	11.1	Publications
5	MT-TL1	mitochondrially encoded tRNA leucine 1 (UUA/G)	11.0	Publications
6	TLX2	T-cell leukemia homeobox 2	11.0	Publications
7	MLNR	motilin receptor	11.0	Publications
8	SPINK1	serine peptidase inhibitor, Kazal type 1	11.0	Publications
9	PRSS1	protease, serine, 1 (trypsin 1)	11.0	Publications
10	SMTN	smoothelin	11.0
11	POLG	polymerase (DNA directed), gamma	11.0	Publications
12	TYMP	thymidine phosphorylase	11.0	Publications
13	L1CAM	L1 cell adhesion molecule	11.0	Publications
14	ACTA1	actin, alpha 1, skeletal muscle	11.0	Publications
15	ATXN7	ataxin 7	11.0	Publications
16	EDN3	endothelin 3	11.0	Publications
17	EDNRB	endothelin receptor type B	11.0	Publications
18	FLNA	filamin A, alpha	11.0	Publications
19	GNRH1	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	11.0	Publications
20	FAS	Fas (TNF receptor superfamily, member 6)	11.0	Publications
21	CFTR	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	11.0	Publications
22	RET	ret proto-oncogene	11.0	Publications
23	ALB	albumin	11.0	Publications
24	TNF	tumor necrosis factor	11.0	Publications

Pathways related to intestinal pseudo-obstruction according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Bacterial infections in CF airways41	9.0	CFTR, FAS, TNF
2	G alpha (q) signalling events38	8.9	MLNR, GNRH1, EDN3, EDNRB

Compounds related to intestinal pseudo-obstruction according to GeneDecks:

(show top 50)    (show all 69)

id	Compound	Score	Top Affiliating Genes
1	Monoisopropylphosphorylserine9 9	11.4	PRSS1, ACHE
2	sodium nitroprusside32	10.4	SST, EDN3
3	bq61032	10.1	EDNRB, EDN3
4	pd 14289332	10.1	EDN3, EDNRB
5	bq 788 sodium salt42	10.1	EDN3, EDNRB
6	bq 302032	10.1	EDNRB, EDN3
7	irl 162032	10.0	EDN3, EDNRB
8	d-trp6-lhrh32	10.0	SST, GNRH1
9	fr13931732	10.0	EDNRB, EDN3
10	captopril32 42 9 9	12.9	ALB, B2M
11	trypsinogen32	9.9	PRSS1, SPINK1, CFTR
12	sarafotoxin32	9.9	EDNRB, EDN3
13	antide32	9.9	GNRH1, FAS
14	2-pyrrolinodoxorubicin32	9.9	SST, GNRH1
15	polyether sulfone32	9.9	ALB, B2M
16	gelofusine32	9.8	SST, ALB
17	iopentol32	9.8	ALB, B2M
18	nifedipine32 9 9	11.7	B2M, GNRH1, SST, EDN3
19	carbachol32 9 9	11.7	CFTR, SST, EDN3
20	creatinine32	9.5	TYMP, ACTA1, SPINK1, FAS, B2M
21	51-cr-edta32	9.5	ALB, B2M
22	zidovudine32 9 9	11.4	B2M, ALB, TYMP, POLG
23	cyclosarin32	9.4	ACHE, ALB
24	guanine32 9 18 9	12.3	TYMP, EDNRB, EDN3, FLNA, L1CAM
25	thymidylate32	9.3	POLG, TYMP, FAS, CFTR, B2M
26	spironolactone32 42 34 9 9	13.3	ALB, GNRH1, EDNRB
27	5-hydroxytryptamine32	9.2	EDNRB, SST, GNRH1, CFTR
28	formaldehyde32 18	10.2	TYMP, EDN3, GNRH1, CFTR, B2M
29	p-aminohippuric acid32	9.2	ALB, B2M
30	norepinephrine32 9 18 9	11.9	EDNRB, EDN3, SST, GNRH1, CFTR
31	acetylcholine32 9 18 9	11.9	ACHE, EDNRB, EDN3, SST, GNRH1, CFTR
32	cysteine32	8.9	TYMP, EDNRB, ALB, CFTR
33	thymidine32 18	9.9	POLG, TYMP, EDN3, TNF, FAS, B2M
34	aspartate32	8.9	EDN3, GNRH1, CFTR, B2M, RET
35	pge232	8.8	EDNRB, EDN3, SST, TNF, CFTR, B2M
36	adenylate32	8.7	POLG, EDNRB, EDN3, SST, GNRH1, CFTR
37	glutamate32	8.7	EDNRB, EDN3, SST, GNRH1, CFTR, L1CAM
38	butyrate32	8.5	TNF, FAS, CFTR, B2M, RET
39	cyclosporin a32 42	9.5	EDNRB, TNF, GNRH1, FAS, CFTR, B2M
40	genistein32 9 18 9	11.4	SST, TNF, FAS, CFTR, B2M, RET
41	arginine32	8.3	PRSS1, EDNRB, EDN3, SST, GNRH1, FAS
42	lactate32	8.1	POLG, SST, TNF, GNRH1, ALB, FAS
43	dexamethasone32 42 34 9 9	12.1	EDNRB, EDN3, SST, TNF, GNRH1, FAS
44	vegf32	8.0	TYMP, EDNRB, EDN3, SST, TNF, FAS
45	dopamine32 9 18 9	10.7	ACHE, EDN3, SST, GNRH1, FAS, FLNA
46	retinoic acid32 42 18	9.7	EDNRB, SST, TNF, GNRH1, FAS, CFTR
47	indomethacin32 9 9	9.5	B2M, TYMP, EDNRB, EDN3, TNF, ALB
48	testosterone32 9 18 9	10.4	EDN3, SST, GNRH1, ALB, FAS, CFTR
49	alanine32	6.9	POLG, EDNRB, EDN3, GNRH1, ALB, FLNA
50	serine32	6.4	EDNRB, ACHE, ACTA1, TYMP, PRSS1, EDN3

Cellular components related to intestinal pseudo-obstruction according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:005615	7.8	EDN3, SST, TNF, GNRH1, ALB, B2M
2	extracellular region	GO:005576	6.8	B2M, PRSS1, ACHE, EDN3, SPINK1, SST

Biological processes related to intestinal pseudo-obstruction according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	vein smooth muscle contraction	GO:014826	9.9	EDN3, EDNRB
2	melanocyte differentiation	GO:030318	9.8	EDN3, EDNRB, SOX10
3	posterior midgut development	GO:007497	9.6	EDNRB, RET
4	ovulation cycle	GO:042698	9.6	FAS, GNRH1
5	digestion	GO:007586	9.6	MLNR, SST, PRSS1
6	positive regulation of necrotic cell death	GO:010940	9.5	FAS, TNF
7	transformed cell apoptotic process	GO:006927	9.4	TNF, FAS
8	enteric nervous system development	GO:048484	9.4	RET, EDNRB, TLX2, SOX10
9	neural crest cell migration	GO:001755	9.2	SOX10, EDNRB, EDN3, RET