MIRAGE syndrome
Synonyms: Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome · Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MIRAGE syndrome | Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome · Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome |
| fr | Syndrome MIRAGE | Syndrome de myélodysplasie-infections-retard de croisance-hypoplasie surrénalienne-anomalies génitales-entéropathie |
| de | MIRAGE-Syndrom | Myelodysplasie-Infektion-Wachstumsbeschränkung-Nebennierenhypoplasie-Genitalanomalien-Enteropathie-Syndrom · Myelodysplasie-Infektion-Wachstumsrestriktion-Nebennierenhypoplasie-Genitalphänotypen-Enteropathie-Syndrom |
| es | Síndrome MIRAGE | Síndrome de mielodisplasia-infección-restricción del crecimiento-hipoplasia suprarrenal-anomalías genitales-enteropatía · Síndrome de mielodisplasia-infección-restricción del crecimiento-hipoplasia suprarrenal-fenotipos genitales-enteropatía |
| it | Sindrome MIRAGE | |
| nl | MIRAGE-syndroom | Myelodysplasie - infectie - groeirestrictie - adrenale hypoplasie - genitale fenotypes - enteropathie-syndroom |
| pt | Síndrome MIRAGE | Síndrome de mielodisplasia-infeção-restrição de crescimento-hipoplasia supra-renal-anomalias genitais-enteropatia · Síndrome de mielodisplasia-infeção-restrição de crescimento-hipoplasia supra-renal-fenótipos genitais-enteropatia |
| pl | Zespół MIRAGE | Zespół mielodysplazji, infekcji, zahamowania wzrastania, hipoplazji nadnerczy, wad narządów płciowych zewnętrznych i enteropatii |
| cs | Syndrom MIRAGE | Syndrom zahrnující myelodysplázii, časté infekty, omezení růstu, adrenální hypoplázii, dysgenezi genitálu a enteropatii |
| uk | Синдром MIRAGE | Синдром мієлодисплазії-інфекції-обмеження росту-гіпоплазії надниркових залоз-генітальних аномалій- ентеропатії · Синдром мієлодисплазії-інфекції-обмеження росту-гіпоплазії надниркових залоз-генітальних фенотипів- ентеропатії |
| zh | MIRAGE综合征 | 骨髓增生异常-感染-生长受限-肾上腺功能减退-生殖器表型-肠病综合征 |
| tr | MIRAGE sendromu | Miyelodisplazi-enfeksiyon-büyüme restriksiyonu-adrenal hipoplazi-genital anomaliler-enteropati sendromu · Miyelodisplazi-enfeksiyon-büyüme restriksiyonu-adrenal hipoplazi-genital fenotipler-enteropati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617053 | E | validated | |
| ICD-10 | D46.7 | NTBT | attributed | validated |
| ICD-11 | 5A70.Y | NTBT | attributed | validated |
| MONDO | 0014888 | E | validated | |
| UMLS | C4284088 | E | validated | |
| GARD | 13108 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:595337Adrenal hypoplasia congenita
rare genetic diseases; rare endocrine diseases - ORPHA:181412Adrenogenital syndrome
rare genetic diseases; rare endocrine diseases - ORPHA:156643Genetic endocrine growth disease
rare genetic diseases - ORPHA:728475Inherited bone marrow failure disorder with immune defect
rare genetic diseases; rare immunological diseases - ORPHA:90692Rare endocrine growth disease
rare endocrine diseases - ORPHA:717877Rare miscellaneous disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SAMD9 | Disease-causing germline mutation(s) in | Assessed | HGNC:1348 | ENSG00000205413 | 610456 | 7q21.2 | sterile alpha motif domain containing 9 | 27182967[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 27182967[PMID]_28346228[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27182967[PMID]_28346228[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/494433
- This record as JSON: /data/d/494433.json