Rare Nephrology News

Disease Profile

MIRAGE syndrome

Prevalence
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.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy

Summary

MIRAGE syndrome is a condition characterized by Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy (intestinal problems). It was originally described in 11 patients who had growth restriction, intellectual disability, developmental delay, adrenal insufficiency resulting in skin hyperpigmentation, symptoms of salt loss, poorly developed and abnormal genitalia (small penis, absence of one or both testes from the scrotum (cryptorchidism) and the urethral opening in the underside of the penis (hypospadias). All patients had low platelet numbers (thrombocytopenia) and/or anemia. MIRAGE syndrome is caused by a change (mutation) in the SAMD9 gene. In the cases described there was no description of a specific treatment but the symptoms should be managed based on presentation.[1]

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
Hydrocephalus
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
Seizure
0001250
Percent of people who have these symptoms is not available through HPO
Adrenal insufficiency
0000846
Anemia
Low number of red blood cells or hemoglobin
0001903
Aspiration pneumonia
0011951
Autosomal dominant inheritance
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 developmental delay
0001263
Hypergonadotropic hypogonadism
0000815
Hyperkalemia
Elevated serum potassium levels
0002153
Hypoglycemia
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
Scoliosis
0002650
Sepsis
Infection in blood stream
0100806
Shawl scrotum
Scrotum surrounds penis
0000049
Short stature
Decreased body height
Small stature

[ more ]

0004322
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Thrombocytopenia
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.

References

  1. Narumi S & cols. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nature Genet. 2016; 48:792-797.