ORPHA:99811
Neuronal intestinal pseudoobstruction
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- All ages
- Status
- active
Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neuronal intestinal pseudoobstruction | |
| fr | Pseudo-obstruction intestinale type neuronal | |
| de | Pseudoobstruktion, intestinale neuronale | |
| es | Pseudoobstrucción intestinal neuronal | |
| it | Pseudo-ostruzione intestinale neuronale | |
| nl | Neuronale intestinale pseudo-obstructie | |
| pt | Pseudo-obstrução intestinal, neuronal | |
| pl | Neuronalna rzekoma niedrożność jelit | |
| cs | Neuronální intestinální pseudoobstrukce | |
| uk | Нейрональна кишкова псевдообструкція | |
| zh | 神经性假性肠梗阻 | |
| tr | Nöronal yalancı bağırsak tıkanıklığı |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243185 | E | validated | |
| ICD-10 | K59.8 | NTBT | attributed | validated |
| ICD-11 | DA90.2 | NTBT | index | validated |
| MONDO | 8000011 | E | validated | |
| MeSH | C537394 | E | validated | |
| UMLS | C1855733 | E | validated | |
| GARD | 3928 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2978Chronic intestinal pseudoobstruction syndrome
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1654OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLNA | Disease-causing germline mutation(s) in | Assessed | HGNC:3754 | ENSG00000196924 | 300017 | Xq28 | filamin A | 17357080[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
7 annotations · validated 2018-06-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004313 | Decreased circulating antibody level | |
| HP:0002024 | Malabsorption | |
| HP:0000695 | Natal tooth | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002719 | Recurrent infections | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000776 | Congenital diaphragmatic hernia | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 1269170[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99811
- This record as JSON: /data/d/99811.json