IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1

General Information (adopted from Orphanet):

Synonyms, Signs: IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16
CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME
IMMUNODEFICIENCY SYNDROME, VARIABLE
ICF1
CIID
Number of Symptoms 23
OrphanetNr:
OMIM Id: 242860
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010808) Protruding tongue 28 / 7739
2
(HPO:0000286) Epicanthus 371 / 7739
3
(HPO:0000347) Micrognathia 426 / 7739
4
(HPO:0000316) Hypertelorism 644 / 7739
5
(HPO:0000246) Sinusitis 73 / 7739
6
(HPO:0012368) Flat face 106 / 7739
7
(HPO:0005280) Depressed nasal bridge 381 / 7739
8
(HPO:0004469) Chronic bronchitis 17 / 7739
9
(HPO:0000158) Macroglossia 119 / 7739
10
(HPO:0000369) Low-set ears 372 / 7739
11
(HPO:0002014) Diarrhea 225 / 7739
12
(HPO:0002024) Malabsorption 142 / 7739
13
(HPO:0001508) Failure to thrive 454 / 7739
14
(HPO:0005403) T lymphocytopenia 10 / 7739
15
(HPO:0002090) Pneumonia 59 / 7739
16
(HPO:0002110) Bronchiectasis 73 / 7739
17
(OMIM) Below the third percentile 1 / 7739
18
(OMIM) Variable mental retardation ranging from severe neurodegeneration to mild mental retardation 1 / 7739
19
(OMIM) Increased IgM 3 / 7739
20
(OMIM) Small upturned nose 4 / 7739
21
(OMIM) Reduced IgA 1 / 7739
22
(OMIM) Head circumference below the third percentile 1 / 7739
23
(OMIM) Reduced number of natural killer cells 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Variable immune deficiency in association with centromeric instability of chromosomes 1, 9, 16, and, rarely, 2, with an increased frequency of somatic recombination of the arms of these chromosomes and a marked tendency to formation of multibranched configurations, ...
Genotype-Phenotype Correlations OMIM Among 44 patients with a clinical diagnosis of ICF, Weemaes et al. (2013) found that 23 (52%) had mutations in the DNMT3B gene and 13 (30%) had mutations in the ZBTB24 gene. A genetic defect was not identified ...
Molecular genetics OMIM Xu et al. (1999) demonstrated homozygous or compound heterozygous mutations in the DNMT3B gene (e.g., 602900.0001) in 5 unrelated ICF patients. All mutations affected residues invariant in DNMT3A (602769) and DNMT3B of mouse and human, and in an ...