MCID: INT319
MIFTS: 31

Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Neuronal diseases

Aliases & Classifications for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

MalaCards integrated aliases for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked:

Name: Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 57 75
Congenital Idiopathic Intestinal Pseudoobstruction 57 53 75 73
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked 53 29 6
Ciipx 57 53 75
Ipox 57 53 75
Ciip 57 53 75
Congenital Short Bowel Syndrome, X-Linked 75 6
Neuronal Intestinal Pseudoobstruction 59 73
Ciip X-Linked 53 75
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, with Central Nervous System Involvement 57
Pseudoobstruction, Intestinal, Neuronal, Chronic Idiopathic, X-Linked 40
Congenital Idiopathic Intestinal Pseudoobstruction; Ciip 57
Intestinal Pseudoobstruction, Neuronal 57
Congenital Short Bowel Syndrome 57
Intestinal Pseudo-Obstruction 73
Ciip, X-Linked; Ciipx 57
Ciip, X-Linked 57
Csbsx 75

Characteristics:

OMIM:

57
Miscellaneous:
onset in infancy
mild facial dysmorphism is associated with duplication of the flna gene

Inheritance:
x-linked recessive


HPO:

32
intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked:
Onset and clinical course infantile onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

NIH Rare Diseases : 53 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). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.

MalaCards based summary : Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked, also known as congenital idiopathic intestinal pseudoobstruction, is related to congenital short bowel syndrome and intestinal pseudo-obstruction, and has symptoms including vomiting An important gene associated with Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked is FLNA (Filamin A). Affiliated tissues include small intestine and pancreas, and related phenotypes are hydronephrosis and hypertelorism

OMIM : 57 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 (Auricchio et al., 1996). Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; 142623) and autosomal recessive visceral neuropathy (243180) (Tanner et al., 1976). (300048)

UniProtKB/Swiss-Prot : 75 Congenital short bowel syndrome, X-linked: A disease characterized by a shortened small intestine, and malabsorption. The mean length of the small intestine in affected individuals is approximately 50 cm, compared with a normal length at birth of 190-280 cm. It is associated with significant mortality and morbidity. Infants usually present with failure to thrive, recurrent vomiting, and diarrhea. Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked: A disease characterized by a severe abnormality of gastrointestinal motility due to primary qualitative defects of enteric ganglia and nerve fibers. Affected individuals manifest recurrent signs of intestinal obstruction in the absence of any mechanical lesion.

Related Diseases for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

Diseases related to Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital short bowel syndrome 12.5
2 intestinal pseudo-obstruction 11.4

Symptoms & Phenotypes for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Head And Neck Face:
smooth philtrum
large jaw
facial dysmorphism, mild

Cardiovascular Vascular:
patent ductus arteriosus

Abdomen External Features:
abdominal distention

Neurologic Central Nervous System:
spastic diplegia (1 patient)
seizures (1 patient)

Head And Neck Ears:
low-set ears

Abdomen Gastrointestinal:
vomiting
abnormal gastrointestinal motility
poor feeding
intestinal pseudoobstruction, chronic
abnormal argyrophilic neurons in the myenteric and submucosal plexuses
more
Hematology:
thrombocytopenia
large platelets

Genitourinary Kidneys:
hydronephrosis (1 patient)


Clinical features from OMIM:

300048

Human phenotypes related to Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hydronephrosis 32 occasional (7.5%) HP:0000126
2 hypertelorism 32 HP:0000316
3 smooth philtrum 32 HP:0000319
4 low-set ears 32 HP:0000369
5 downslanted palpebral fissures 32 HP:0000494
6 seizures 32 occasional (7.5%) HP:0001250
7 spastic diplegia 32 occasional (7.5%) HP:0001264
8 patent ductus arteriosus 32 HP:0001643
9 thrombocytopenia 32 HP:0001873
10 abnormal facial shape 32 HP:0001999
11 vomiting 32 HP:0002013
12 pyloric stenosis 32 occasional (7.5%) HP:0002021
13 intestinal malrotation 32 HP:0002566
14 abdominal distention 32 HP:0003270
15 intestinal pseudo-obstruction 32 HP:0004389
16 feeding difficulties in infancy 32 HP:0008872
17 increased mean platelet volume 32 HP:0011877
18 congenital shortened small intestine 32 occasional (7.5%) HP:0030889
19 increased size of the mandible 32 HP:0040309

UMLS symptoms related to Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked:


vomiting

Drugs & Therapeutics for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

Search Clinical Trials , NIH Clinical Center for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked

Genetic Tests for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

Genetic tests related to Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked:

# Genetic test Affiliating Genes
1 Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked 29 FLNA

Anatomical Context for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

MalaCards organs/tissues related to Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked:

41
Small Intestine, Pancreas

Publications for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

Articles related to Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked:

(show all 20)
# Title Authors Year
1
Congenital Short-Bowel Syndrome in an Adult Dog. ( 29310549 )
2018
2
Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome. ( 27720179 )
2016
3
Congenital Short Bowel Syndrome due to Absent Midgut. ( 27150813 )
2016
4
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. ( 27352967 )
2016
5
Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation. ( 26282049 )
2015
6
Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations. ( 23037936 )
2013
7
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. ( 22155368 )
2012
8
Gastric heterotopia with extensive involvement of the small intestine associated with congenital short bowel syndrome and intestinal malrotation. ( 21204668 )
2011
9
Case report: Congenital short bowel syndrome. ( 21042453 )
2010
10
Ectopic drainage of the common bile duct into the lesser curvature of the gastric antrum in a newborn with pyloric atresia, annular pancreas and congenital short bowel syndrome. ( 18818913 )
2009
11
Congenital short bowel syndrome: a case report and review of the literature. ( 18209785 )
2008
12
Long-term outcome of a patient with congenital short bowel syndrome. ( 16707984 )
2006
13
Successful pregnancy following maternal small bowel reconstruction for congenital short bowel syndrome. ( 16398781 )
2006
14
Congenital short bowel syndrome with malrotation. ( 15508878 )
2004
15
Gastrocolocutaneous fistula in a child with congenital short bowel syndrome: a rare complication of percutaneous endoscopic gastrostomy. ( 15175828 )
2004
16
Synovial lipomatosis (lipoma arborescens) affecting multiple joints in a patient with congenital short bowel syndrome. ( 12022328 )
2002
17
Congenital short bowel syndrome associated with appendiceal agenesis and functional intestinal obstruction. ( 9574778 )
1998
18
Congenital short-bowel syndrome: prenatal sonographic findings of a fatal anomaly. ( 9460641 )
1998
19
Congenital short bowel syndrome with left acheiria: report of one case. ( 9401186 )
1997
20
Congenital short bowel syndrome: report of a case treated with home central parenteral nutrition. ( 1358321 )
1992

Variations for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

ClinVar genetic disease variations for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNA NM_001110556.1(FLNA): c.65_66delAC (p.Thr23Alafs) deletion Pathogenic rs80338840 GRCh37 Chromosome X, 153599548: 153599549
2 FLNA NM_001110556.1(FLNA): c.65_66delAC (p.Thr23Alafs) deletion Pathogenic rs80338840 GRCh38 Chromosome X, 154371180: 154371181
3 FLNA NM_001110556.1(FLNA): c.5278C> T (p.Gln1760Ter) single nucleotide variant Pathogenic rs886044824 GRCh38 Chromosome X, 154354651: 154354651
4 FLNA NM_001110556.1(FLNA): c.5278C> T (p.Gln1760Ter) single nucleotide variant Pathogenic rs886044824 GRCh37 Chromosome X, 153583019: 153583019
5 FLNA NM_001110556.1(FLNA): c.6248_6249insTGTC (p.Ile2084Valfs) insertion Pathogenic rs1057515584 GRCh37 Chromosome X, 153581270: 153581271
6 FLNA NM_001110556.1(FLNA): c.6248_6249insTGTC (p.Ile2084Valfs) insertion Pathogenic rs1057515584 GRCh38 Chromosome X, 154352902: 154352903
7 FLNA NM_001110556.1(FLNA): c.2280+389T> A single nucleotide variant Pathogenic GRCh38 Chromosome X, 154363633: 154363633
8 FLNA NM_001110556.1(FLNA): c.2280+389T> A single nucleotide variant Pathogenic GRCh37 Chromosome X, 153592001: 153592001
9 FLNA NM_001110556.1(FLNA): c.18_19delTC (p.Arg7Glyfs) deletion Pathogenic rs398122521 GRCh38 Chromosome X, 154371227: 154371228
10 FLNA NM_001110556.1(FLNA): c.18_19delTC (p.Arg7Glyfs) deletion Pathogenic rs398122521 GRCh37 Chromosome X, 153599595: 153599596

Expression for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

Search GEO for disease gene expression data for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked.

Pathways for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

GO Terms for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

Sources for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

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74 UMLS via Orphanet
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