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Disease Profile
MIRAGE 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.
#N/A
Age of onset
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ICD-10
#N/A
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)
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy
Summary
MIRAGE
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
|
---|---|---|
5%-29% of people have these symptoms | ||
Achalasia | 0002571 | |
Esophageal stricture |
Narrowing of esophagus due to inflammation and scar tissue
|
0002043 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypoplastic spleen |
Underdeveloped spleen
|
0006270 |
Intracranial hemorrhage |
Bleeding within the skull
|
0002170 |
Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ] |
0001882 |
Myelodysplasia | 0002863 | |
Paraplegia |
Leg paralysis
|
0010550 |
0001250 | ||
Percent of people who have these symptoms is not available through HPO | ||
Adrenal insufficiency | 0000846 | |
Low number of red blood cells or hemoglobin
|
0001903 | |
Aspiration pneumonia | 0011951 | |
0000006 | ||
Chronic diarrhea | 0002028 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ] |
0004325 |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Global |
0001263 | |
Hypergonadotropic |
0000815 | |
Hyperkalemia |
Elevated serum potassium levels
|
0002153 |
Low blood sugar
|
0001943 | |
Hyponatremia |
Low blood sodium levels
|
0002902 |
Hypospadias | 0000047 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Lymphopenia |
Decreased blood lymphocyte number
Low lymphocyte number
[ more ] |
0001888 |
Microphallus | 0030260 | |
Motor delay | 0001270 | |
Overlapping fingers | 0010557 | |
Patent ductus arteriosus | 0001643 | |
Petechiae | 0000967 | |
Radial club hand | 0004059 | |
Recurrent bacterial infections |
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ] |
0002718 |
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] |
0000010 |
Rocker bottom foot |
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet
[ more ] |
0001838 |
0002650 | ||
Sepsis |
Infection in blood stream
|
0100806 |
Shawl scrotum |
Scrotum surrounds penis
|
0000049 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Low platelet count
|
0001873 |
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
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss MIRAGE syndrome. Click on the link to view a sample search on this topic.