Mirage syndrome

Preferred Label : Mirage syndrome;

Symbol : MIRAGE;

CISMeF acronym : MIRAGE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sterile alpha motif domain-containing protein-9 gene (SAMD9, 610456.0002);

Laboratory abnormalities : Hyperkalemia; Hypoglycemia; Markedly elevated serum ferritin (rare); Hyponatremia; Elevated C-reactive protein, persistent;

Prefixed ID : #617053;

Details

Origin ID

617053;

UMLS CUI

C4284088;

Automatic exact mappings (from CISMeF team)
- SAMD9 wt Allele [NCIt concept]
- mirage [MeSH concept]
- mirage [MeSH Supplementary Concept]
CISMeF manual mappings
- MIRAGE Syndrome [NCIt concept]
Currated CISMeF NLP mapping
- MIRAGE syndrome [ORDO Disease]
- Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Sterile alpha motif domain-containing protein 9 [OMIM gene]
HPO term(s)
- Achalasia [HPO term]
- Adrenal insufficiency [HPO term]
- Anemia [HPO term]
- Aspiration pneumonia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chronic diarrhea [HPO term]
- Cryptorchidism [HPO term]
- Decreased body weight [HPO term]
- Decreased testicular size [HPO term]
- Esophageal stricture [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hyperkalemia [HPO term]
- Hypoglycemia [HPO term]
- Hyponatremia [HPO term]
- Hypoplastic spleen [HPO term]
- Hypospadias [HPO term]
- Intracranial hemorrhage [HPO term]
- Intrauterine growth retardation [HPO term]
- Leukopenia [HPO term]
- Lymphopenia [HPO term]
- Microphallus [HPO term]
- Motor delay [HPO term]
- Myelodysplasia [HPO term]
- Overlapping fingers [HPO term]
- Paraplegia [HPO term]
- Patent ductus arteriosus [HPO term]
- Petechiae [HPO term]
- Radial club hand [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent urinary tract infections [HPO term]
- Rocker bottom foot [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sepsis [HPO term]
- Shawl scrotum [HPO term]
- Short stature [HPO term]
- Talipes equinovarus [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- MIRAGE syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MIRAGE Syndrome [NCIt concept]
- MIRAGE syndrome [ORDO Disease]
- Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) [SNOMED CT concept]

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