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Hereditary hemorrhagic telangiectasia

5 OMIM references -
4 associated genes
155 connected diseases
34 signs/symptoms

Disease	Type of connection
Generalized juvenile polyposis / juvenile polyposis coli
Heritable pulmonary arterial hypertension
Familial cerebral saccular aneurysm
Familial pancreatic carcinoma
Myhre syndrome
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Hereditary nonpolyposis colon cancer
Marfan syndrome type 2
Camurati-Engelmann disease
Cystic fibrosis
Myelodysplastic syndromes
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
Situs ambiguus
Leber hereditary optic neuropathy
MELAS syndrome
Maternally-inherited Leigh syndrome
Ovarian adenocarcinoma
Juvenile myelomonocytic leukemia
Noonan syndrome
Peters anomaly
Pulmonary venoocclusive disease
1p36 deletion syndrome
Aneurysm - osteoarthritis syndrome
Shprintzen-Goldberg syndrome
Cowden syndrome
Proteus syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Papillary or follicular thyroid carcinoma
Partial androgen insensitivity syndrome
Split hand-split foot malformation
Acute myeloid leukemia
Deafness - lymphedema - leukemia
Monocytopenia with susceptibility to infections
Alveolar soft-part sarcoma
Hereditary pheochromocytoma-paraganglioma
Translocation renal cell carcinoma
Joubert syndrome with oculorenal defect
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Fibrodysplasia ossificans progressiva
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Estrogen resistance syndrome
Inherited acute myeloid leukemia
Alveolar rhabdomyosarcoma
Familial drusen
20p12.3 microdeletion syndrome
Autosomal dominant nonsyndromic intellectual deficit
Brachydactyly type A2
Craniopharyngioma
Desmoid tumor
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Fibronectin glomerulopathy
Hepatocellular carcinoma, childhood-onset
Melanoma of soft part
Pilomatrixoma
Primary CD59 deficiency
Synpolydactyly type 2
Young adult-onset distal hereditary motor neuropathy
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
Cerebellar ataxia - hypogonadism
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Reducing body myopathy
Spondylo-megaepiphyseal-metaphyseal dysplasia
Watson syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked myopathy with postural muscle atrophy
Alpha-1-antitrypsin deficiency
Alpha-crystallinopathy
Anaplastic ependymoma
Aniridia - cerebellar ataxia - intellectual deficit
Athyreosis
Atrial septal defect - atrioventricular conduction defects
Atrial septal defect, ostium secundum type
Autosomal dominant keratitis
Colobomatous microphthalmia
Familial advanced sleep-phase syndrome
Familial atrial fibrillation
Familial isolated congenital asplenia
Familial progressive cardiac conduction defect
Fatal infantile hypertonic myofibrillar myopathy
Foveal hypoplasia - presenile cataract
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Hypoplasminogenemia
Hypoplastic left heart syndrome
Isolated aniridia
Isolated optic nerve hypoplasia
Leber 'plus' disease
Ligneous conjunctivitis
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Morning glory syndrome
Posterior polar cataract
Richieri Costa-Pereira syndrome
Single ventricular septal defect
Tetralogy of Fallot
Thyroid hypoplasia
WAGR syndrome
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Zonular cataract
Hyperinsulinism due to HNF4A deficiency
MODY syndrome
Idiopathic pulmonary arterial hypertension
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Distal 22q11.2 microdeletion syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
14q11.2 microduplication syndrome
14q12 microdeletion syndrome
Acrocallosal syndrome
Amyotrophic lateral sclerosis
Atypical Rett syndrome
Autoimmune lymphoproliferative syndrome
Autosomal recessive lymphoproliferative disease
Berardinelli-Seip congenital lipodystrophy
Congenital intrauterine infection-like syndrome
Diffuse cutaneous systemic sclerosis
Familial prostate cancer
Greig cephalopolysyndactyly syndrome
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Large congenital melanocytic nevus
Limited cutaneous systemic sclerosis
Neutrophil immunodeficiency syndrome
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
Primary peritoneal carcinoma
Pulmonary capillary hemangiomatosis
X-linked lymphoproliferative disease
Combined oxidative phosphorylation defect type 4
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome

Synonym(s): - HHT - Rendu-Osler disease - Rendu-Osler-Weber disease

Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease - Rare systemic or rheumatologic disease		Classification (ICD10): - Diseases of the circulatory system -

Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		External references: 5 OMIM references - No MeSH references

Gene symbol	UniProt reference	OMIM reference
ACVRL1	P37023	601284
ENG	P17813	131195
GDF2	Q9UK05	605120
SMAD4	Q13485	600993

Very frequent

- Autosomal dominant inheritance
- Epistaxis / nose bleeding
- Telangiectasiae of mucosae
- Telangiectasiae of the skin

Frequent

- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Cavernous / tuberous hemangioma
- Facial pain / cephalalgia / migraine
- Functional anomalies of the cardio-circulatory system
- Functional anomalies of the liver and the biliary tract
- Hematomas
- Microcytic anemia
- Portal hypertension
- Visceral angiomatosis (excluding skin)

Occasional

- Biliary / gallbladder stones / lithiasis / cholecystitis
- Cerebral vascular anomalies
- Cirrhosis
- Conjunctival telangiectasia
- Esophageal varices
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Heart / cardiac failure
- Hematuria / microhematuria
- Hemoptysis
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hepatocellular liver disease / hepatic failure
- Peripheral arteriovenous fistula
- Polyposis of the bowel / colon / intestine
- Pulmonary hypertension
- Pulmonary thromboembolism
- Retinal vascular anomalies / retinal telangiectasia
- Seizures / epilepsy / absences / spasms / status epilepticus
- Transient cerebral ischemia / stroke
- Urinary / renal lithiasis / kidney stones / nephritic colic
- Venous thrombosis / phlebitis / thrombophlebitis
- Visual loss / blindness / amblyopia