Review of these terms, notes here on the review and actions, as this involves merging DO records and creating new subtypes.
neuronal intestinal dysplasia [DOID:0080072] - make parent term
[rename to intestinal pseudo-obstruction, based on GHR]
there is no OMIM PS #
References:
https://pubmed.ncbi.nlm.nih.gov/31848803/
Chronic intestinal pseudo-obstruction (CIPO) is defined by symptoms of bowel obstruction in the absence of a lumen-occluding lesion. CIPO is a heterogeneous group of disorders caused by abnormalities in the enteric neurons, intestinal smooth muscle, and/or the interstitial cells of Cajal (ICC).
Chronic intestinal pseudo-obstruction has been recognized in both adults and children with fundamental differences in the etiology, symptom onset, clinical features and natural history of this disorder. For this reason, it has been considered a separate entity referred to as
pediatric intestinal pseudo-obstruction (PIPO).
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. Intestinal pseudo-obstruction leads to a buildup of partially digested food in the intestines.
When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic intestinal pseudo-obstruction
GARD: 12744
syn: chronic intestinal pseudo-obstruction (CIPO)
def: characterized by repetitive episodes or continuous symptoms
of bowel obstruction when no blockage exists.
Orphanet: ORDO:2978 [Chronic intestinal pseudo-obstruction]
--> this orphaned ID includes OMIM IDs for the
following 4 subtypes
def: Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery.
GARD:6789. Intestinal pseudo-obstruction
def: 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.
4 subtypes:
[1]. autosomal recessive familial visceral neuropathy [OMIM:243180]
syn: neuronal intestinal dysplasia type A
[in OMIM:601223] - NID A is a very rare condition characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine.
[in OMIM: 243180] - NID A is a very rare condition characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine. Patients with NID A are infants with diarrhea, bloody stools, and intestinal spasticity. Their colons show mucosal inflammation and focal destruction of the muscularis mucosae.
In NID B the parasympathetic submucous plexus is primarily affected
[2] neuronal intestinal dysplasia type B [OMIM:601223]
In NID B, the parasympathetic submucous plexus is primarily affected.
[3]. OMIM: 300048 [X-linked recessive]
gene: FLNA
GHR: FLNA gene mutations that cause intestinal pseudo-obstruction are thought to reduce levels of the filamin A protein or impair its function.
X-linked chronic idiopathic neuronal intestinal pseudoobstruction
GARD:3017
def: caused by mutation or duplication in the gene encoding filamin A (FLNA; 300017).
Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion.
[in OMIM:615237 - A possible form of congenital short bowel syndrome (see 300048) is caused by mutation in the FLNA gene (300017) on chromosome Xq28.]
Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility.
[5] congenital short bowel syndrome
short bowel syndrome [DOID:10605] -
OMIM:615237
congenital short bowel syndrome (CSBS) is caused by homozygous or compound heterozygous mutation in the CLMP gene (611693) on chromosome 11q24.
NCI:C99059
ORDO: 2301
short bowel syndrome [DOID:10605] - is acquired form
ORDO has : OMIM: 300048 OMIM: 615237
Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.
lschriml
commented
4 years ago
Review of these terms, notes here on the review and actions, as this involves merging DO records and creating new subtypes.
neuronal intestinal dysplasia [DOID:0080072] - make parent term [rename to intestinal pseudo-obstruction, based on GHR]
References: https://pubmed.ncbi.nlm.nih.gov/31848803/ Chronic intestinal pseudo-obstruction (CIPO) is defined by symptoms of bowel obstruction in the absence of a lumen-occluding lesion. CIPO is a heterogeneous group of disorders caused by abnormalities in the enteric neurons, intestinal smooth muscle, and/or the interstitial cells of Cajal (ICC).
Chronic intestinal pseudo-obstruction has been recognized in both adults and children with fundamental differences in the etiology, symptom onset, clinical features and natural history of this disorder. For this reason, it has been considered a separate entity referred to as pediatric intestinal pseudo-obstruction (PIPO).
https://pubmed.ncbi.nlm.nih.gov/31594655/
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. Intestinal pseudo-obstruction leads to a buildup of partially digested food in the intestines. When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic intestinal pseudo-obstruction
4 subtypes: [1]. autosomal recessive familial visceral neuropathy [OMIM:243180] syn: neuronal intestinal dysplasia type A
[in OMIM:601223] - NID A is a very rare condition characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine.
[in OMIM: 243180] - NID A is a very rare condition characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine. Patients with NID A are infants with diarrhea, bloody stools, and intestinal spasticity. Their colons show mucosal inflammation and focal destruction of the muscularis mucosae.
In NID B the parasympathetic submucous plexus is primarily affected
[2] neuronal intestinal dysplasia type B [OMIM:601223] In NID B, the parasympathetic submucous plexus is primarily affected.
[3]. OMIM: 300048 [X-linked recessive]
gene: FLNA
GHR: FLNA gene mutations that cause intestinal pseudo-obstruction are thought to reduce levels of the filamin A protein or impair its function.
X-linked chronic idiopathic neuronal intestinal pseudoobstruction GARD:3017 def: caused by mutation or duplication in the gene encoding filamin A (FLNA; 300017).
Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion.
[in OMIM:615237 - A possible form of congenital short bowel syndrome (see 300048) is caused by mutation in the FLNA gene (300017) on chromosome Xq28.]
Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility.
[4] OMIM: 609629 autosomal dominant familial visceral neuropathy VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL DOMINANT chronic idiopathic intestinal pseudoobstruction
[5] congenital short bowel syndrome short bowel syndrome [DOID:10605] - OMIM:615237 congenital short bowel syndrome (CSBS) is caused by homozygous or compound heterozygous mutation in the CLMP gene (611693) on chromosome 11q24.
short bowel syndrome [DOID:10605] - is acquired form
ORDO has : OMIM: 300048 OMIM: 615237 Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.
Reference: GHR: https://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction#synonyms
disease name: intestinal pseudo-obstruction
causes: In some individuals with primary intestinal pseudo-obstruction, the condition is caused by genetic changes affecting the FLNA or ACTG2 gene.
synonyms: congenital short bowel syndrome