IMAGe syndrome
Synonyms: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic disease characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (such as cryptorchidism, posterior hypospadias, and micropenis). Patients may present shortly after birth with severe adrenal insufficiency. Additional manifestations include postnatal growth failure and delayed bone age, mild developmental delay, macrocephaly, mild facial dysmorphism (with frontal bossing, wide nasal bridge, and small, low-set ears), epiphyseal dysplasia, and hypercalcemia/hypercalciuria, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | IMAGe syndrome | Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome |
| fr | Syndrome IMAGe | Syndrome de retard de croissance intra-utérin-dysplasie métaphysaire-hypoplasie congénitale des surrénales-anomalies génitales |
| de | IMAGe-Syndrom | Intrauterine Wachstumsretardierung - metaphysäre Dysplasie - kongenitale Nebennierenhypoplasie - Genitalanomalien |
| es | Síndrome IMAGe | |
| it | Sindrome IMAGe | Ritardo della crescita intrauterino - displasia metafisaria - ipoplasia congenita dei surreni - anomalie dei genitali |
| nl | IMAGe-syndroom | Intra-uteriene groeiachterstand - metafysaire dysplasie - congenitale adrenale hypoplasie - genitale anomalieën-syndroom · Intra-uteriene groeiachterstand - metafysaire dysplasie - congenitale bijnierhypoplasie - genitale anomalieën-syndroom |
| pt | Síndrome IMAGe | Síndrome de atraso de crecimento-displasia metafisária-hipoplasia supra-renal congénita-anomalias genitais |
| pl | Zespół IMAGe | Wewnątrzmaciczne opóźnienie wzrostu - dysplazja przynasadowa - wrodzona hipoplazja nadnerczy- wady narządów płciowych |
| cs | IMAGe syndrom | Syndrom zahrnující intrauterinní růstovou retardaci, metafyzární dysplázii, vrozenou adrenální hypoplázii a anomálie genitálií |
| uk | Синдром IMAGE | Синдром внутрішньоутробної затримки росту - метафізарної дисплазії - вродженої гіпоплазії надниркових залоз - генітальних аномалій |
| zh | IMAGe综合征 | 宫内发育迟缓-干骺端发育不良-先天性肾上腺发育不良-生殖器畸形综合征 |
| tr | IMAGe sendromu | Rahim içi büyüme geriliği-metafizyal displazi-adrenal hipoplazi konjenita-genital anomaliler sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614732 | BTNT | validated | |
| OMIM | 618336 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | 5A74.Y | NTBT | index | validated |
| MONDO | 0013873 | E | validated | |
| MeSH | C564543 | E | validated | |
| UMLS | C1846009 | E | validated | |
| GARD | 12312 | 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 (5):
- ORPHA:595337Adrenal hypoplasia congenita
rare genetic diseases; rare endocrine diseases - ORPHA:156643Genetic endocrine growth disease
rare genetic diseases - ORPHA:90692Rare endocrine growth disease
rare endocrine diseases - ORPHA:93440Slender bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POLE | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9177 | ENSG00000177084 | 174762 | 12q24.33 | DNA polymerase epsilon, catalytic subunit | 30503519[PMID] |
| CDKN1C | Disease-causing germline mutation(s) in | Assessed | HGNC:1786 | ENSG00000129757 | 600856 | 11p15.4 | cyclin dependent kinase inhibitor 1C | 22634751[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 28 cases | Worldwide | Case(s) | Validated | 24624461[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24624461[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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000078 | Abnormality of the genital system | |
| HP:0000835 | Adrenal hypoplasia | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002007 | Frontal bossing | |
| HP:0000126 | Hydronephrosis | |
| HP:0000135 | Hypogonadism | |
| HP:0000047 | Hypospadias | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0100255 | Metaphyseal dysplasia | |
| HP:0002983 | Micromelia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 10599684[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85173
- This record as JSON: /data/d/85173.json