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Mosaic variegated aneuploidy syndrome
2 OMIM references -
4 associated genes
84 connected diseases
63 signs/symptoms
Disease Type of connection
APC-related attenuated familial adenomatous polyposis
Desmoid tumor
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Turcot syndrome with polyposis
Blackfan-Diamond anemia
Autosomal recessive primary microcephaly
Hermansky-Pudlak syndrome with neutropenia
Severe intellectual deficit and progressive spastic paraplegia
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Leber congenital amaurosis
Familial pancreatic carcinoma
Familial prostate cancer
Fanconi anemia
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
17p13.3 microduplication syndrome
17q11 microdeletion syndrome
2q37 microdeletion syndrome
3M syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant cutis laxa
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal recessive centronuclear myopathy
Autosomal recessive cutis laxa type 1
Autosomal recessive limb-girdle muscular dystrophy type 2J
Bardet-Biedl syndrome
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Dedifferentiated liposarcoma
Distal 17p13.3 microdeletion syndrome
Distal hereditary motor neuropathy type 2
Early-onset myopathy with fatal cardiomyopathy
Exfoliative ichthyosis
FTH1-related iron overload
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated dilated cardiomyopathy
Familial renal amyloidosis due to lysozyme variant
Fibronectin glomerulopathy
GCS1-CDG
Genetic hyperferritinemia without iron overload
Giant cell glioblastoma
Gliosarcoma
Glycogen storage disease due to liver phosphorylase kinase deficiency
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Hereditary hyperferritinemia with congenital cataracts
Hereditary proximal myopathy with early respiratory failure
Hereditary sensorimotor neuropathy with hyperelastic skin
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Intermediate nemaline myopathy
Isolated polycystic liver disease
Joubert syndrome with oculorenal defect
Meckel syndrome
Miller-Dieker syndrome
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Neuroferritinopathy
Papillary or follicular thyroid carcinoma
Peripheral resistance to thyroid hormones
Pseudohypoaldosteronism type 2E
Retinitis pigmentosa
Senior-Loken syndrome
Severe congenital nemaline myopathy
Spinal muscular atrophy with respiratory distress
Tibial muscular dystrophy
Typical nemaline myopathy
Well-differentiated liposarcoma
X-linked distal arthrogryposis multiplex congenita
Young adult-onset Parkinsonism
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- Warburton-Anyane-Yeboa syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: C536987
Gene symbol UniProt reference OMIM reference
BUB1 O43683602452
BUB1B O60566602860
BUB3 O43684603719
CEP57 Q86XR8607951
Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Ascitis
- Autosomal recessive inheritance
- Cataract / lens opacification
- Corneal clouding / opacity / vascularisation
- Dandy-Walker anomaly
- Dilated cerebral ventricles without hydrocephaly
- Epicanthic folds
- Glaucoma
- Increased nuchal translucency
- Micrognathia / retrognathia / micrognathism / retrognathism
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Polyhydramnios
- Short stature / dwarfism / nanism

Frequent
- Anomalies of eyes and vision
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Triangular face

Occasional
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration
- Acute leukemia
- Ambiguous genitalia
- Anomalies of bones / skeletal anomalies
- Anomalies of ear and hearing
- Apnea / sleep apnea
- Atrial septal defect / interauricular communication
- Cafe-au-lait spot
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Clinodactyly of fifth finger
- Colon neoplasm / tumor / carcinoma / cancer
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Digestive neoplasm / tumor / carcinoma / cancer
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Duodenal atresia / stenosis / megaduodenum
- Early death / lethality
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flattened nose
- Frontal bossing / prominent forehead
- High forehead
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypothyroidy
- Hypotonia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intrauterine growth retardation
- Long / large / bulbous nose
- Low set ears / posteriorly rotated ears
- Multicystic kidney / renal dysplasia
- Myelodysplastic syndrome
- Neoplasms / tumors
- Nephroblastoma / Wilms tumor
- Osteolysis / osteoclasia / bone destruction / erosions
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Polyposis of the bowel / colon / intestine
- Seizures / epilepsy / absences / spasms / status epilepticus
- Skull / cranial anomalies
- Sloping forehead
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Upper limb segmental anomalies
- Vaginal / vulvar neoplasm / tumor / carcinoma / cancer