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Disease Profile
ICF syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Childhood
ICD-10
D84.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency syndrome, variable; Centromeric instability, immunodeficiency syndrome;
Categories
Congenital and Genetic Diseases; Immune System Diseases
Summary
Orpha Number: 2268
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of |
0003220 | |
Decreased circulating |
0004313 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Decreased body height
Small stature
[ more ] |
0004322 | |
30%-79% of people have these symptoms | ||
Abnormality of neutrophils | 0001874 | |
Low number of red blood cells or hemoglobin
|
0001903 | |
Cellular |
0005374 | |
Communicating |
0001334 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Global |
0001263 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Lymphopenia |
Decreased blood lymphocyte number
Low lymphocyte number
[ more ] |
0001888 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Malabsorption |
Intestinal malabsorption
|
0002024 |
5%-29% of people have these symptoms | ||
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Flat face |
Flat facial shape
|
0012368 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
Protruding tongue |
Prominent tongue
Tongue sticking out of mouth
[ more ] |
0010808 |
Umbilical hernia | 0001537 | |
Percent of people who have these symptoms is not available through HPO | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
0000007 | ||
Bronchiectasis |
Permanent enlargement of the airways of the lungs
|
0002110 |
Chronic bronchitis | 0004469 | |
Decreased circulating IgA level | 0002720 | |
Diarrhea |
Watery stool
|
0002014 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Immunodeficiency |
Decreased immune function
|
0002721 |
Increased circulating IgM level | 0003496 | |
Malar flattening |
Zygomatic flattening
|
0000272 |
Pneumonia | 0002090 | |
Reduced natural killer |
0040218 | |
Sinusitis |
Sinus inflammation
|
0000246 |
T lymphocytopenia |
Low T cell count
Reduced number of T cells
[ more ] |
0005403 |
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss ICF syndrome. Click on the link to view a sample search on this topic.