ORPHA:1052
Mosaic variegated aneuploidy syndrome
Synonyms: Warburton-Anyane-Yeboa syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic variegated aneuploidy syndrome | Warburton-Anyane-Yeboa syndrome |
| fr | Syndrome d'aneuploïdie en mosaïque | Syndrome de Warburton-Anyane-Yeboa |
| de | Variables Aneuploidie-Mosaik-Syndrom | Syndrom der Gemischten Mosaik-Aneuploidie · Warburton-Anyane-Yeboa-Syndrom |
| es | Síndrome de aneuploidía en mosaico variegada | |
| it | Sindrome da aneuploidia variegata in mosaico | Sindrome di Warburton-Anyane-Yeboa |
| nl | Variabele aneuploïdie-mozaïek-syndroom | 'Mosaic variegated aneuploidy'-syndroom · Syndroom van Warburton-Anyane-Yeboa |
| pt | Síndrome aneuploidia variada em mosaico | Síndrome Warburton-Anyane-Yeboa |
| pl | Zespół mozaikowej aneuploidii | Zespół Warburtona, Anyane'a i Yeboa |
| cs | Syndrom mozaikově pestré aneuploidie | Warburtonův-Anyaneho-Yeboaův syndrom · Warburton-Anyane-Yeboaův syndrom |
| uk | Синдром мозаїчної варіабельної анеуплоїдії | Синдром Уорбертона-Аньяне-Єбоа |
| zh | 镶嵌非整倍杂色体综合征 | Warburton-Anyane-Yeboa综合征 |
| tr | Alacalı mozaik anoploidi sendromu | Warburton-Anyane-Yeboa sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 257300 | E | validated | |
| OMIM | 614114 | BTNT | validated | |
| OMIM | 617598 | BTNT | validated | |
| OMIM | 620153 | BTNT | validated | |
| OMIM | 620189 | BTNT | validated | |
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| ICD-11 | LD7Y | NTBT | index | validated |
| MONDO | 0000141 | E | validated | |
| MeSH | C536682 | E | validated | |
| UMLS | C4551972 | E | validated | |
| GARD | 3007 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:98642Chromosomal anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:68335Rare chromosomal anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BUB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1148 | ENSG00000169679 | 602452 | 2q13 | BUB1 mitotic checkpoint serine/threonine kinase | 23747338[PMID] |
| BUB1B | Disease-causing germline mutation(s) in | Assessed | HGNC:1149 | ENSG00000156970 | 602860 | 15q15.1 | BUB1 mitotic checkpoint serine/threonine kinase B | 15475955[PMID] |
| BUB3 | Disease-causing germline mutation(s) in | Assessed | HGNC:1151 | ENSG00000154473 | 603719 | 10q26.13 | BUB3 mitotic checkpoint protein | 23747338[PMID] |
| CEP57 | Disease-causing germline mutation(s) in | Assessed | HGNC:30794 | ENSG00000166037 | 607951 | 11q21 | centrosomal protein 57 | 21552266[PMID]_24259107[PMID] |
| TRIP13 | Disease-causing germline mutation(s) in | Assessed | HGNC:12307 | ENSG00000071539 | 604507 | 5p15.33 | thyroid hormone receptor interactor 13 | 28553959[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 41 cases | Worldwide | Case(s) | Validated | 16059936[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
64 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001541 | Ascites | |
| HP:0000518 | Cataract | |
| HP:0007957 | Corneal opacity | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000286 | Epicanthus | |
| HP:0000501 | Glaucoma | |
| HP:0010880 | Increased nuchal translucency | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0003560 | Muscular dystrophy | |
| HP:0001561 | Polyhydramnios | |
| HP:0004322 | Short stature | |
| HP:0002119 | Ventriculomegaly | |
| Frequent (79-30%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0000325 | Triangular face | |
| Occasional (29-5%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002101 | Abnormal lung lobation | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0002817 | Abnormality of the upper limb | |
| HP:0006721 | Acute lymphoblastic leukemia | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0001659 | Aortic regurgitation | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0002104 | Apnea | |
| HP:0001631 | Atrial septal defect | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001680 | Coarctation of aorta | |
| HP:0003003 | Colon cancer | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002247 | Duodenal atresia | |
| HP:0002007 | Frontal bossing | |
| HP:0001510 | Growth delay | |
| HP:0000365 | Hearing impairment | |
| HP:0000348 | High forehead | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000821 | Hypothyroidism | |
| HP:0001252 | Hypotonia | |
| HP:0200008 | Intestinal polyposis | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0002863 | Myelodysplasia | |
| HP:0002664 | Neoplasm | |
| HP:0002667 | Nephroblastoma | |
| HP:0002797 | Osteolysis | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002859 | Rhabdomyosarcoma | |
| HP:0001250 | Seizure | |
| HP:0000340 | Sloping forehead | |
| HP:0012126 | Stomach cancer | |
| HP:0001682 | Subvalvular aortic stenosis | |
| HP:0100650 | Vaginal neoplasm | |
| HP:0000445 | Wide nose | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1052
- This record as JSON: /data/d/1052.json