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Aneurysm - osteoarthritis syndrome
1 OMIM reference -
1 associated gene
279 connected diseases
No signs/symptoms info
Disease Type of connection
Familial thoracic aortic aneurysm and aortic dissection
Familial pancreatic carcinoma
Familial prostate cancer
Familial isolated dilated cardiomyopathy
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Precursor B-cell acute lymphoblastic leukemia
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Acute promyelocytic leukemia
Autosomal dominant nonsyndromic intellectual deficit
1p36 deletion syndrome
Split hand-split foot malformation
Isolated delta-storage pool disease
Precursor T-cell acute lymphoblastic leukemia
Cowden syndrome
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
Loeys-Dietz syndrome type 1
Coffin-Siris syndrome
Peters anomaly
12q14 microdeletion syndrome
Left ventricular noncompaction
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Juvenile myelomonocytic leukemia
Hereditary nonpolyposis colon cancer
Noonan syndrome
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Complete androgen insensitivity syndrome
Familial hypospadias
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Kennedy disease
Myhre syndrome
Partial androgen insensitivity syndrome
Shprintzen-Goldberg syndrome
Cleidocranial dysplasia
Glucocorticoid resistance
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Berardinelli-Seip congenital lipodystrophy
Myelodysplastic syndromes
Amyotrophic lateral sclerosis
Alveolar soft-part sarcoma
Distal 22q11.2 microdeletion syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Translocation renal cell carcinoma
Hereditary pheochromocytoma-paraganglioma
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial advanced sleep-phase syndrome
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Mowat-Wilson syndrome due to a point mutation
Mowat-Wilson syndrome due to monosomy 2q22
Multiple endocrine neoplasia type 1
Papillary or follicular thyroid carcinoma
Papilloma of choroid plexus
Zollinger-Ellison syndrome
Chronic myeloid leukemia
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Hypocalcemic vitamin D-resistant rickets
Primary peritoneal carcinoma
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Proteus syndrome
Burkitt lymphoma
Fanconi anemia
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Estrogen resistance syndrome
Pyogenic bacterial infections due to MyD88 deficiency
Waldenström macroglobulinemia
Autosomal dominant secondary polycythemia
Multiple keratoacanthoma, Ferguson-Smith type
Multiple paragangliomas associated with polycythemia
Phosphoenolpyruvate carboxykinase 2 deficiency
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Acute myeloid leukemia with CEBPA somatic mutations
Inherited acute myeloid leukemia
Alveolar rhabdomyosarcoma
Fuchs endothelial corneal dystrophy
Posterior polymorphous corneal dystrophy
46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy, classic type
Buschke-Ollendorff syndrome
Epidermolysis bullosa simplex with pyloric atresia
Epileptic encephalopathy with global cerebral demyelination
Generalized junctional epidermolysis bullosa, non-Herlitz type
Infantile Refsum disease
Isolated osteopoikilosis
Junctional epidermolysis bullosa - pyloric atresia
Localized junctional epidermolysis bullosa, non-Herlitz type
Melorheostosis with osteopoikilosis
Mosaic variegated aneuploidy syndrome
Neonatal adrenoleukodystrophy
Syndromic X-linked intellectual deficit due to JARID1C mutation
Zellweger syndrome
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Hyperinsulinism due to HNF4A deficiency
Lymphangioleiomyomatosis
MODY syndrome
Tuberous sclerosis
45,X / 46,XY mixed gonadal dysgenesis
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Granulomatosis with polyangiitis
Testicular regression syndrome
2q37 microdeletion syndrome
Atrial septal defect, ostium secundum type
Atrial septal defect, sinus venosus type
Familial melanoma
Reducing body myopathy
Single ventricular septal defect
Situs inversus totalis
Tetralogy of Fallot
X-linked Emery-Dreifuss muscular dystrophy
X-linked myopathy with postural muscle atrophy
17q21.31 microdeletion syndrome
ADULT syndrome
Anaplastic ependymoma
Aniridia - cerebellar ataxia - intellectual deficit
Ankyloblepharon - ectodermal defects - cleft lip / palate
Atypical hemolytic uremic syndrome with H factor anomaly
Autosomal dominant keratitis
Axenfeld anomaly
Axenfeld-Rieger syndrome
Behçet disease
Bladder exstrophy
Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Brachydactyly - elbow wrist dysplasia
Campomelic dysplasia
Chronic intestinal pseudoobstruction
Combined oxidative phosphorylation defect type 17
Congenital atransferrinemia
Congenital short bowel syndrome
Congenital valvular dysplasia
Dense deposit disease
EEC syndrome
Ehlers-Danlos syndrome with periventricular heterotopia
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Familial atrial fibrillation
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
Familial drusen
Familial rhabdoid tumor
Foveal hypoplasia - presenile cataract
Fraser syndrome
Frontometaphyseal dysplasia
Heritable pulmonary arterial hypertension
Homozygous familial hypercholesterolemia
Hypoplasminogenemia
Immunodeficiency with factor H anomaly
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Intellectual deficiency - hypotonia - spasticity - sleep disorder
Isolated aniridia
Isolated brachycephaly
Isolated optic nerve hypoplasia
Isolated plagiocephaly
Koolen-De Vries syndrome due to a point mutation
Ligneous conjunctivitis
Limb-mammary syndrome
Morning glory syndrome
Muscular dystrophy, Selcen type
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Paris-Trousseau thrombocytopenia
Partial chromosome Y deletion
Paternal uniparental disomy of chromosome 6
Peripheral primitive neuroectodermal tumor
Periventricular nodular heterotopia
Rieger anomaly
Ring dermoid of cornea
Severe combined immunodeficiency due to CORO1A deficiency
Synpolydactyly type 2
Terminal osseous dysplasia - pigmentary defects
Transient neonatal diabetes mellitus
Uveal coloboma - cleft lip and palate - intellectual deficit
WAGR syndrome
Annular epidermolytic ichthyosis
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Cap myopathy
Charcot-Marie-Tooth disease type 2B1
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital muscular dystrophy due to LMNA mutation
Congenital reticular ichthyosiform erythroderma
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Epidermolytic ichthyosis
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Huntington disease-like 2
Hutchinson-Gilford progeria syndrome
Inflammatory myofibroblastic tumor
Intermediate nemaline myopathy
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Microvillous inclusion disease
Progeria-associated arthropathy
Pulverulent cataract
Superficial epidermolytic ichthyosis
Williams syndrome
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
Acrodermatitis continua suppurativa of Hallopeau
CLOVE syndrome
Cerebellar ataxia - hypogonadism
Early-onset autosomal dominant Alzheimer disease
Generalized pustular psoriasis
Glycogen storage disease due to glycogen debranching enzyme deficiency
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Hemimegalencephaly
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
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Pustulosis palmaris et plantaris
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Severe combined immunodeficiency due to LCK deficiency
Syndromic multisystem autoimmune disease due to Itch deficiency
Watson syndrome
14q11.2 microduplication syndrome
14q12 microdeletion syndrome
Athyreosis
Atypical Rett syndrome
Thyroid hypoplasia
Acrocallosal syndrome
Camurati-Engelmann disease
Cystic fibrosis
Greig cephalopolysyndactyly syndrome
Marfan syndrome type 2
Pallister-Hall syndrome
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
X-linked non-syndromic intellectual deficit
Synonym(s):
- AOS
- Loeys-Dietz syndrome with osteoarthritis

Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
SMAD3 P84022603109
No signs/symptoms info available.