Autoimmune disease, multisystem, infantile-onset, 1

Preferred Label : Autoimmune disease, multisystem, infantile-onset, 1;

Symbol : ADMIO1;

CISMeF acronym : ADMIO1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the signal transducer and activator of transcription 3 gene (STAT3, 102582.0008);

Neoplasia : Increased susceptibility to large granular lymphocytic T-cell leukemia;

Prefixed ID : #615952;

Details

Origin ID

615952;

UMLS CUI

C4014795;

Automatic exact mappings (from CISMeF team)
- STAT3 wt Allele [NCIt concept]
- STAT3-related early-onset multisystem autoimmune disease [ORDO Disease]
Currated CISMeF NLP mapping
- Infantile-Onset Multisystem Autoimmune Disease 1 [NCIt concept]
- Signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease (disorder) [SNOMED CT concept]
Genes related to phenotype
- Signal transducer and activator of transcription 3 [OMIM gene]
HPO term(s)
- Abnormal intestine morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Achalasia [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Autoimmunity [HPO term]
- Autosomal dominant inheritance [HPO term]
- Celiac disease [HPO term]
- Childhood onset [HPO term]
- Decreased circulating antibody level [HPO term]
- Delayed puberty [HPO term]
- Desquamative interstitial pneumonitis [HPO term]
- Eczema [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Hepatosplenomegaly [HPO term]
- Hodgkin lymphoma [HPO term]
- Hypothyroidism [HPO term]
- Infantile onset [HPO term]
- Interstitial pneumonitis [HPO term]
- Juvenile onset [HPO term]
- Neonatal onset [HPO term]
- Neutropenia in presence of anti-neutropil antibodies [HPO term]
- Polyarticular arthritis [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Short stature [HPO term]
- Type I diabetes mellitus [HPO term]
Not associated HPO term(s)
- Eosinophilia [HPO term]
ORDO concept(s)
- STAT3-related early-onset multisystem autoimmune disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile-Onset Multisystem Autoimmune Disease 1 [NCIt concept]
- Signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease (disorder) [SNOMED CT concept]

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