IPOX
MCID: INT319
MIFTS: 31

Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked (IPOX)

Categories: Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare 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
Congenital Short Bowel Syndrome, X-Linked 75 29 6
Ciipx 57 53 75
Ipox 57 53 75
Ciip 57 53 75
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
Neuronal Intestinal Pseudoobstruction 73
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 hypertelorism and low-set ears

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:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 congenital short bowel syndrome 12.7
2 intestinal pseudo-obstruction 11.6
3 mungan syndrome 11.2
4 short bowel syndrome 10.5
5 secondary hyperparathyroidism of renal origin 10.1
6 hyperparathyroidism 10.1
7 visceral myopathy 10.1
8 microcolon 10.1
9 pancreas, annular 9.8
10 pyloric atresia 9.8
11 lipomatosis 9.8
12 intestinal obstruction 9.8
13 acheiria 9.8

Graphical network of the top 20 diseases related to Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked:



Diseases related to Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked

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

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
2 Congenital Short Bowel Syndrome, X-Linked 29

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:

# Title Authors Year
1
The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. ( 8644737 )
1996

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 GRCh37 Chromosome X, 153583019: 153583019
4 FLNA NM_001110556.1(FLNA): c.5278C> T (p.Gln1760Ter) single nucleotide variant Pathogenic rs886044824 GRCh38 Chromosome X, 154354651: 154354651
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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