Inflammatory bowel disease, immunodeficiency, and encephalopathy

Preferred Label : Inflammatory bowel disease, immunodeficiency, and encephalopathy;

Symbol : IBDIMDE;

CISMeF acronym : IBDIMDE;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transforming growth factor, beta-1 gene (TGFB1, 190180.0008);

Prefixed ID : #618213;

Details

Origin ID

618213;

UMLS CUI

C4748708;

Currated CISMeF NLP mapping
- Infantile inflammatory bowel disease with neurological involvement [ORDO Disease]
Genes related to phenotype
- Transforming growth factor, beta-1 [OMIM gene]
HPO term(s)
- Anoperineal fistula [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bloody diarrhea [HPO term]
- Candida esophagitis [HPO term]
- Cerebral atrophy [HPO term]
- Decreased T cell activation [HPO term]
- Defective T cell proliferation [HPO term]
- Delayed CNS myelination [HPO term]
- Encephalopathy [HPO term]
- Eosinophilic infiltration of the esophagus [HPO term]
- Failure to thrive [HPO term]
- Focal impaired awareness seizure [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypochromic anemia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypsarrhythmia [HPO term]
- Increased circulating IgE level [HPO term]
- Increased circulating IgG level [HPO term]
- Leukocytosis [HPO term]
- Myoclonic seizure [HPO term]
- Pancolitis [HPO term]
- Perianal abscess [HPO term]
- Recurrent respiratory infections [HPO term]
- Severe varicella zoster infection [HPO term]
- Spasticity [HPO term]
- Thrombocytosis [HPO term]
ORDO concept(s)
- Infantile inflammatory bowel disease with neurological involvement [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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