Immunodeficiency-centromeric instability-facial anomalies syndrome 1

Preferred Label : Immunodeficiency-centromeric instability-facial anomalies syndrome 1;

Symbol : ICF1;

CISMeF acronym : CIID; ICF1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16; Centromeric instability, immunodeficiency syndrome; CIID; Immunodeficiency syndrome, variable;

Description : Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients that is explained by mutations in the DNMT3B gene in some, but not all, ICF patients (Hagleitner et al., 2008). - Genetic Heterogeneity of Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome ICF2 (614069) is caused by mutation in the ZBTB24 gene (614064) on chromosome 6q21.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DNA methyl-transferase 3B gene (DNMT3B, 602900.0001);

Laboratory abnormalities : Increased IgM; Reduced IgA;

Prefixed ID : #242860;

Details

Origin ID

242860;

UMLS CUI

C4551557;

Currated CISMeF NLP mapping
- Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (disorder) [SNOMED CT concept]
- ICF syndrome [ORDO Disease]
- Immunodeficiency - centromeric region instability - facial anomalies syndrome [ICD-11 More detail]
- Immunodeficiency syndrome, variable [MeSH concept]
- Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 [NCIt concept]
- immunodeficiency syndrome, variable [MeSH Supplementary Concept]
- immunodeficiency, centromere instability and facial anomalies syndrome [Disease (Nov.)]
- immunodeficiency-centromeric instability-facial anomalies syndrome [DO Concept]
- immunodeficiency-centromeric instability-facial anomalies syndrome 1 [DO Concept]
DO Cross reference
- immunodeficiency-centromeric instability-facial anomalies syndrome 1 [DO Concept]
Genes related to phenotype
- Dna methyltransferase 3b [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic bronchitis [HPO term]
- Decreased circulating IgA level [HPO term]
- Depressed nasal bridge [HPO term]
- Diarrhea [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Flat face [HPO term]
- Flattened nasal bridge [HPO term]
- Hypertelorism [HPO term]
- Immunodeficiency [HPO term]
- Increased circulating IgM level [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Macroglossia [HPO term]
- Malabsorption [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Pneumonia [HPO term]
- Protruding tongue [HPO term]
- Reduced natural killer cell count [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Sinusitis [HPO term]
- Small, upturned nose [HPO term]
- T lymphocytopenia [HPO term]
ORDO concept(s)
- ICF syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (disorder) [SNOMED CT concept]
- ICF syndrome [ORDO Disease]
- Immunodeficiency syndrome, variable [MeSH concept]
- Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 [NCIt concept]
- immunodeficiency syndrome, variable [MeSH Supplementary Concept]
- immunodeficiency, centromere instability and facial anomalies syndrome [Disease (Nov.)]
- immunodeficiency-centromeric instability-facial anomalies syndrome [DO Concept]

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