IPOX
MCID: INT319
MIFTS: 29

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 58 76
Congenital Idiopathic Intestinal Pseudoobstruction 58 54 76 74
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked 54 30 6
Congenital Short Bowel Syndrome, X-Linked 76 30 6
Ciipx 58 54 76
Ipox 58 54 76
Ciip 58 54 76
Ciip X-Linked 54 76
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, with Central Nervous System Involvement 58
Pseudoobstruction, Intestinal, Neuronal, Chronic Idiopathic, X-Linked 41
Congenital Idiopathic Intestinal Pseudoobstruction; Ciip 58
Intestinal Pseudoobstruction, Neuronal 58
Neuronal Intestinal Pseudoobstruction 74
Congenital Short Bowel Syndrome 58
Intestinal Pseudo-Obstruction 74
Ciip, X-Linked; Ciipx 58
Ciip, X-Linked 58
Csbsx 76

Characteristics:

OMIM:

58
Miscellaneous:
onset in infancy
mild facial dysmorphism is associated with duplication of the flna gene

Inheritance:
x-linked recessive


HPO:

33
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 : 54 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 related phenotypes are seizures and pyloric stenosis

OMIM : 58 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 : 76 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 11.3
4 short bowel syndrome 10.5
5 secondary hyperparathyroidism 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,...

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

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 pyloric stenosis 33 occasional (7.5%) HP:0002021
3 hydronephrosis 33 occasional (7.5%) HP:0000126
4 spastic diplegia 33 occasional (7.5%) HP:0001264
5 congenital shortened small intestine 33 occasional (7.5%) HP:0030889
6 hypertelorism 33 HP:0000316
7 low-set ears 33 HP:0000369
8 abnormal facial shape 33 HP:0001999
9 smooth philtrum 33 HP:0000319
10 feeding difficulties in infancy 33 HP:0008872
11 vomiting 33 HP:0002013
12 patent ductus arteriosus 33 HP:0001643
13 thrombocytopenia 33 HP:0001873
14 downslanted palpebral fissures 33 HP:0000494
15 intestinal malrotation 33 HP:0002566
16 abdominal distention 33 HP:0003270
17 intestinal pseudo-obstruction 33 HP:0004389
18 increased mean platelet volume 33 HP:0011877
19 increased size of the mandible 33 HP:0040309

Symptoms via clinical synopsis from OMIM:

58
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

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 30 FLNA
2 Congenital Short Bowel Syndrome, X-Linked 30

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

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

42
Small Intestine

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.6248_6249insTGTC (p.Ile2084Valfs) insertion Pathogenic rs1057515584 GRCh37 Chromosome X, 153581270: 153581271
4 FLNA NM_001110556.1(FLNA): c.6248_6249insTGTC (p.Ile2084Valfs) insertion Pathogenic rs1057515584 GRCh38 Chromosome X, 154352902: 154352903
5 FLNA NM_001456.3(FLNA): c.7604G> A (p.Cys2535Tyr) single nucleotide variant Uncertain significance rs201762017 GRCh37 Chromosome X, 153577858: 153577858
6 FLNA NM_001456.3(FLNA): c.7604G> A (p.Cys2535Tyr) single nucleotide variant Uncertain significance rs201762017 GRCh38 Chromosome X, 154349490: 154349490
7 FLNA NM_001110556.1(FLNA): c.2280+389T> A single nucleotide variant Pathogenic rs1557178535 GRCh38 Chromosome X, 154363633: 154363633
8 FLNA NM_001110556.1(FLNA): c.2280+389T> A single nucleotide variant Pathogenic rs1557178535 GRCh37 Chromosome X, 153592001: 153592001
9 FLNA NM_001110556.1(FLNA): c.18_19del (p.Arg7Glyfs) deletion Pathogenic rs398122521 GRCh38 Chromosome X, 154371227: 154371228
10 FLNA NM_001110556.1(FLNA): c.18_19del (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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