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Familial thoracic aortic aneurysm and aortic dissection
8 OMIM references -
9 associated genes
392 connected diseases
No signs/symptoms info
Disease Type of connection
Loeys-Dietz syndrome type 1
Hereditary nonpolyposis colon cancer
Peters anomaly
Multiple keratoacanthoma, Ferguson-Smith type
Marfan syndrome type 2
Shprintzen-Goldberg syndrome
Aneurysm - osteoarthritis syndrome
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Familial aortic dissection
Moyamoya disease
Acromicric dysplasia
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Isolated ectopia lentis
Marfan syndrome type 1
Neonatal Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Stiff skin syndrome
Weill-Marchesani syndrome
Hereditary hemorrhagic telangiectasia
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Familial isolated dilated cardiomyopathy
Heritable pulmonary arterial hypertension
Familial cerebral saccular aneurysm
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Left ventricular noncompaction
Camurati-Engelmann disease
Cystic fibrosis
Precursor B-cell acute lymphoblastic leukemia
Myhre syndrome
Autosomal dominant nonsyndromic intellectual deficit
Desmoid tumor
Congenital glaucoma
Juvenile glaucoma
Acute promyelocytic leukemia
X-linked non-syndromic intellectual deficit
Familial prostate cancer
1p36 deletion syndrome
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Williams syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Autosomal agammaglobulinemia
Giant cell glioblastoma
Hepatocellular carcinoma, childhood-onset
SHORT syndrome
Fanconi anemia
Essential thrombocythemia
Pulmonary venoocclusive disease
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
Familial melanoma
Atrial septal defect, ostium secundum type
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Noonan syndrome
Berardinelli-Seip congenital lipodystrophy
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer 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
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant cutis laxa
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Li-Fraumeni syndrome
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Papilloma of choroid plexus
Split hand-split foot malformation
Idiopathic pulmonary arterial hypertension
Isolated delta-storage pool disease
Precursor T-cell acute lymphoblastic leukemia
Amyotrophic lateral sclerosis
Autosomal recessive cutis laxa type 1
Acute myeloid leukemia with CEBPA somatic mutations
Inherited acute myeloid leukemia
Cowden syndrome
Tuberous sclerosis
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
Amish nemaline myopathy
Congenital stromal corneal dystrophy
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Coffin-Siris syndrome
Spondylocarpotarsal synostosis
Syndromic multisystem autoimmune disease due to Itch deficiency
Young adult-onset Parkinsonism
12q14 microdeletion syndrome
Inflammatory myofibroblastic tumor
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Juvenile myelomonocytic leukemia
Fibrodysplasia ossificans progressiva
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Intermediate nemaline myopathy
Brachydactyly type A2
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Cleidocranial dysplasia
Glucocorticoid resistance
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Supravalvular aortic stenosis
Catecholaminergic polymorphic ventricular tachycardia
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Myelodysplastic syndromes
Alveolar soft-part sarcoma
Distal 22q11.2 microdeletion syndrome
Translocation renal cell carcinoma
Hereditary pheochromocytoma-paraganglioma
Familial advanced sleep-phase syndrome
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
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
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
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
Lethal arteriopathy syndrome due to FBLN4 deficiency
Multiple paragangliomas associated with polycythemia
Phosphoenolpyruvate carboxykinase 2 deficiency
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Wagner disease
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
Blepharophimosis-intellectual deficit syndrome, MKB type
Buschke-Ollendorff syndrome
Epidermolysis bullosa simplex with pyloric atresia
Epileptic encephalopathy with global cerebral demyelination
FG syndrome type 1
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
X-linked intellectual deficit with marfanoid habitus
Zellweger syndrome
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Hyperinsulinism due to HNF4A deficiency
MODY syndrome
45,X / 46,XY mixed gonadal dysgenesis
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Granulomatosis with polyangiitis
Testicular regression syndrome
2q37 microdeletion syndrome
Atrial septal defect, sinus venosus type
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
Megalencephalic leukoencephalopathy with subcortical cysts
Spinocerebellar ataxia type 15 / 16
Spinocerebellar ataxia type 29
17q21.31 microdeletion syndrome
8p11.2 deletion syndrome
ADULT syndrome
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
APC-related attenuated familial adenomatous polyposis
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
Cabezas syndrome
Campomelic dysplasia
Chronic granulomatous disease
Chronic intestinal pseudoobstruction
Combined oxidative phosphorylation defect type 17
Congenital atransferrinemia
Congenital short bowel syndrome
Congenital valvular dysplasia
Dense deposit disease
Dyskeratosis congenita
EEC syndrome
Ehlers-Danlos syndrome with periventricular heterotopia
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Familial adenomatous polyposis due to 5q22.2 microdeletion
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
Gardner syndrome
Gastrointestinal stromal tumor
Generalized epilepsy - paroxysmal dyskinesia
Hereditary sensorimotor neuropathy with hyperelastic skin
Hereditary spherocytosis
Homozygous familial hypercholesterolemia
Hoyeraal-Hreidarsson syndrome
Idiopathic aplastic anemia
Idiopathic hypereosinophilic syndrome
Idiopathic pulmonary fibrosis
Immunodeficiency with factor H anomaly
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Intellectual deficiency - hypotonia - spasticity - sleep disorder
Isolated aniridia
Isolated brachycephaly
Isolated focal cortical dysplasia type IIb
Isolated optic nerve hypoplasia
Isolated plagiocephaly
Koolen-De Vries syndrome due to a point mutation
LEOPARD syndrome
Ligneous conjunctivitis
Limb-mammary syndrome
Morning glory syndrome
Muscular dystrophy, Selcen type
Myeloid neoplasm associated with PDGFRA rearrangement
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
Pilocytic astrocytoma
Pseudohypoaldosteronism type 2E
Rieger anomaly
Ring dermoid of cornea
Severe combined immunodeficiency due to CORO1A deficiency
Spinocerebellar ataxia type 36
Spinocerebellar ataxia type 7
Synpolydactyly type 2
Terminal osseous dysplasia - pigmentary defects
Transient neonatal diabetes mellitus
Turcot syndrome with polyposis
Uveal coloboma - cleft lip and palate - intellectual deficit
WAGR syndrome
Congenital contractural arachnodactyly
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
Congenital intrauterine infection-like syndrome
Congenital muscular dystrophy due to LMNA mutation
Congenital reticular ichthyosiform erythroderma
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Duane retraction syndrome
Epidermolytic ichthyosis
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Huntington disease-like 2
Hutchinson-Gilford progeria syndrome
Infantile autosomal recessive medullary cystic kidney disease
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
Renal-hepatic-pancreatic dysplasia
Superficial epidermolytic ichthyosis
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
Acrodermatitis continua suppurativa of Hallopeau
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
CLOVE syndrome
Cerebellar ataxia - hypogonadism
Generalized pustular psoriasis
Glycogen storage disease due to glycogen debranching enzyme deficiency
Glycogen storage disease due to liver glycogen phosphorylase deficiency
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
Watson syndrome
14q11.2 microduplication syndrome
14q12 microdeletion syndrome
Atypical Rett syndrome
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Hereditary proximal myopathy with early respiratory failure
Thyroid hypoplasia
Tibial muscular dystrophy
20p12.3 microdeletion syndrome
Acrocallosal syndrome
Autoimmune lymphoproliferative syndrome
Autosomal recessive lymphoproliferative disease
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal recessive primary microcephaly
Autosomal recessive systemic lupus erythematosus
Bleeding diathesis due to thromboxane synthesis deficiency
Brachydactyly type C
Common variable immunodeficiency
Congenital myopathy with excess of thin filaments
Dyssegmental dysplasia, Silverman-Handmaker type
Greig cephalopolysyndactyly syndrome
Melanoma of soft part
Myelofibrosis with myeloid metaplasia
Pallister-Hall syndrome
Persistent Müllerian duct 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
Pulmonary capillary hemangiomatosis
Romano-Ward syndrome
Schwartz-Jampel syndrome
Severe congenital nemaline myopathy
Smith-McCort dysplasia
T-cell immunodeficiency with epidermodysplasia verruciformis
Typical nemaline myopathy
Walker-Warburg syndrome
X-linked lymphoproliferative disease
17p13.3 microduplication syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Blackfan-Diamond anemia
Distal 17p13.3 microdeletion syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Miller-Dieker syndrome
- Familial TAAD

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

Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
8 OMIM references -
No MeSH references

No signs/symptoms info available.