MCID: INT111
MIFTS: 31

Intestinal Pseudoobstruction, Neuronal

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

Aliases & Classifications for Intestinal Pseudoobstruction, Neuronal

MalaCards integrated aliases for Intestinal Pseudoobstruction, Neuronal:

Name: Intestinal Pseudoobstruction, Neuronal 54
Congenital Idiopathic Intestinal Pseudoobstruction 50 24 71 69
Ipox 50 24 71
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked 50 29
Neuronal Intestinal Pseudoobstruction 56 69
Ciip X-Linked 50 71
Ciipx 50 71
Ciip 50 71
Chronic Idiopathic Intestinal Neuronal Pseudoobstruction with Central Nervous System Involvement 24
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 71
Chronic Idiopathic Neuronal Intestinal Pseudoobstruction, X-Linked 24
Congenital Short Bowel Syndrome, X-Linked 71
Congenital Short Bowel Syndrome 54
Intestinal Pseudo-Obstruction 69
Csbsx 71

Characteristics:

OMIM:

54
Miscellaneous:
onset in infancy
mild facial dysmorphism is associated with duplication of the flna gene

Inheritance:
x-linked recessive


HPO:

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


Classifications:



Summaries for Intestinal Pseudoobstruction, Neuronal

NIH Rare Diseases : 50 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. last updated: 7/17/2015

MalaCards based summary : Intestinal Pseudoobstruction, Neuronal, also known as congenital idiopathic intestinal pseudoobstruction, is related to congenital short bowel syndrome and hydrocephalus due to aqueductal stenosis, and has symptoms including seizures, low-set ears and thrombocytopenia. An important gene associated with Intestinal Pseudoobstruction, Neuronal is FLNA (Filamin A). Affiliated tissues include small intestine.

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

Related Diseases for Intestinal Pseudoobstruction, Neuronal

Diseases related to Intestinal Pseudoobstruction, Neuronal via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
id Related Disease Score Top Affiliating Genes
1 congenital short bowel syndrome 12.4
2 hydrocephalus due to aqueductal stenosis 11.1
3 intestinal pseudo-obstruction 10.9
4 short bowel syndrome 10.3
5 acheiria 9.7
6 lipomatosis 9.7
7 intestinal obstruction 9.7
8 tropical sprue 9.5 CLMP FLNA
9 holoprosencephaly 11 9.4 CLMP FLNA
10 hidrocystoma 9.2 CLMP FLNA
11 frontometaphyseal dysplasia 1 8.9 CLMP FLNA IPOX

Graphical network of the top 20 diseases related to Intestinal Pseudoobstruction, Neuronal:



Diseases related to Intestinal Pseudoobstruction, Neuronal

Symptoms & Phenotypes for Intestinal Pseudoobstruction, Neuronal

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
downslanting palpebral fissures
hypertelorism

Abdomen- Gastroin testinal:
poor feeding
vomiting
intestinal pseudoobstruction, chronic
abnormal gastrointestinal motility
abnormal argyrophilic neurons in the myenteric and submucosal plexuses
more
Cardiovascular- Vascular:
patent ductus arteriosus

Abdomen- External Features:
abdominal distention

Genitourinary- Kidneys:
hydronephrosis (1 patient)

Head And Neck- Ears:
low-set ears

Hematology:
thrombocytopenia
large platelets

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

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


Clinical features from OMIM:

300048

Human phenotypes related to Intestinal Pseudoobstruction, Neuronal:

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

UMLS symptoms related to Intestinal Pseudoobstruction, Neuronal:


vomiting

Drugs & Therapeutics for Intestinal Pseudoobstruction, Neuronal

Search Clinical Trials , NIH Clinical Center for Intestinal Pseudoobstruction, Neuronal

Genetic Tests for Intestinal Pseudoobstruction, Neuronal

Genetic tests related to Intestinal Pseudoobstruction, Neuronal:

id Genetic test Affiliating Genes
1 Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked 29
2 Chronic Idiopathic Neuronal Intestinal Pseudoobstruction, X-Linked 24 FLNA

Anatomical Context for Intestinal Pseudoobstruction, Neuronal

MalaCards organs/tissues related to Intestinal Pseudoobstruction, Neuronal:

39
Small Intestine

Publications for Intestinal Pseudoobstruction, Neuronal

Variations for Intestinal Pseudoobstruction, Neuronal

ClinVar genetic disease variations for Intestinal Pseudoobstruction, Neuronal:

6
id 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 CLMP NM_024769.3(CLMP): c.230delA (p.Glu77Glyfs) deletion Pathogenic rs587776964 GRCh37 Chromosome 11, 122955378: 122955378
3 CLMP NM_024769.3(CLMP): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs587776965 GRCh37 Chromosome 11, 122945410: 122945410
4 FLNA NM_001110556.1(FLNA): c.16_17delTC (p.Arg7Glyfs) deletion Pathogenic rs398122521 GRCh37 Chromosome X, 153599597: 153599598
5 CLMP NM_024769.3(CLMP): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic rs587776966 GRCh37 Chromosome 11, 122953808: 122953808
6 CLMP NM_024769.3(CLMP): c.371T> A (p.Val124Asp) single nucleotide variant Pathogenic rs587776967 GRCh37 Chromosome 11, 122955237: 122955237
7 CLMP NM_024769.3(CLMP): c.508C> T (p.Arg170Ter) single nucleotide variant Pathogenic rs765907815 GRCh38 Chromosome 11, 123083728: 123083728
8 FLNA NM_001110556.1(FLNA): c.5278C> T (p.Gln1760Ter) single nucleotide variant Pathogenic rs886044824 GRCh37 Chromosome X, 153583019: 153583019
9 FLNA NM_001110556.1(FLNA): c.6248_6249insTGTC (p.Ile2084Valfs) insertion Pathogenic rs1057515584 GRCh37 Chromosome X, 153581270: 153581271

Expression for Intestinal Pseudoobstruction, Neuronal

Search GEO for disease gene expression data for Intestinal Pseudoobstruction, Neuronal.

Pathways for Intestinal Pseudoobstruction, Neuronal

GO Terms for Intestinal Pseudoobstruction, Neuronal

Sources for Intestinal Pseudoobstruction, Neuronal

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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