HHT4
MCID: TLN010
MIFTS: 22

Telangiectasia, Hereditary Hemorrhagic, Type 4 (HHT4)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Telangiectasia, Hereditary Hemorrhagic, Type 4

MalaCards integrated aliases for Telangiectasia, Hereditary Hemorrhagic, Type 4:

Name: Telangiectasia, Hereditary Hemorrhagic, Type 4 57 13 73
Hht4 57 53
Hereditary Hemorrhagic Telangiectasia Type 4 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see hht1, )


HPO:

32
telangiectasia, hereditary hemorrhagic, type 4:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Telangiectasia, Hereditary Hemorrhagic, Type 4

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 774Disease definitionRendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.EpidemiologyIts prevalence varies from 1/5,000 to 1/8,000.Clinical descriptionThe most common clinical signs include chronic epistaxis, which causes anemia, sometimes from childhood, and cutaneous or mucosal telangiectasia (on typical locations) presenting during adulthood and increasing with age. Visceral arteriovenous malformations (AVM) are either asymptomatic or lead to complications that produce highly variable manifestations: pulmonary AVM manifest with brain abscesses or transient ischemic attacks, signs of chronic hypoxia or hemorrhagic rupture; AVM of the central nervous system can produce signs of slow compression or be hemorrhagic; hepatic AVM, which remain latent for a long time, become clinically severe in a limited proportion of patients and can lead to cardiac hyperflow, portal hypertension, pulmonary hypertension or pseudo-obstructive angiocholitis; hemorrhagic, digestive AVM increase with age and worsen chronic anemia.EtiologyHHT is a genetic disorder due to mutations primarily in two genes, ACVRL1 and ENG, involved in the signaling pathway of the transforming growth factor (TGF)-beta. Vascular angiogenic homeostasis of capillaries is impaired, which leads to excessive neovascularization (successive and progressive telangiectasia and arteriovenous fistulas). In some rare cases, the SMAD4 gene is mutated and results in HHT associated with juvenile polyposis (see this term).Diagnostic methodsThe diagnosis is clinical and is based on CuraƧao's criteria: recurrent epistaxis, cutaneous/mucosal telangiectasia and a hereditary nature to these signs. Visceral pulmonary, hepatic or neurological involvement can replace one of the previous signs. Genetic testing is available and, in the presence of the characteristic clinical signs, including visceral involvement, it confirms the diagnosis by identifying the familial mutation.Differential diagnosisDifferential diagnosis includes CREST syndrome, pulmonary arterial hypertension (see these terms) and benign hereditary telangiectasia.Antenatal diagnosisAntenatal diagnosis is not recommended, except in severe cases.Genetic counselingTransmission is autosomal dominant. Penetrance is almost complete after 50 years of age.Management and treatmentDisease management consists of anemia management, as well as prevention and treatment of epistaxis. The management of AVM relies on early detection and occlusion, often by interventional radiology, depending on the location. In cases of liver disease, liver transplantation is required until antiangiogenic drugs, such as thalidomide and anti-VEGF (Vascular Endothelial Growth Factor) antibodies, are proven to be effective and are accepted.PrognosisMost patients have a normal life expectancy, which depends on the visceral involvement. Pregnancy-related death has been reported in patients whose pulmonary arteriovenous fistulas remained undetected.Visit the Orphanet disease page for more resources.

MalaCards based summary : Telangiectasia, Hereditary Hemorrhagic, Type 4, is also known as hht4, and has symptoms including dyspnea and cyanosis. An important gene associated with Telangiectasia, Hereditary Hemorrhagic, Type 4 is HHT4 (Telangiectasia, Hereditary Hemorrhagic, Type 4). Affiliated tissues include liver, brain and testes, and related phenotypes are dyspnea and transient ischemic attack

Description from OMIM: 610655

Related Diseases for Telangiectasia, Hereditary Hemorrhagic, Type 4

Symptoms & Phenotypes for Telangiectasia, Hereditary Hemorrhagic, Type 4

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
dyspnea

Respiratory Lung:
cyanosis
pulmonary arteriovenous malformation (pavm), especially lower lobes

Cardiovascular Vascular:
arteriovenous fistulas of celiac and mesenteric vessels
arterial aneurysm of celiac and mesenteric vessels
venous varicosities of celiac and mesenteric vessels

Head And Neck Nose:
spontaneous, recurrent epistaxis (onset childhood)
nasal mucosa telangiectases

Skin Nails Hair Skin:
telangiectases (especially on tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips)

Neurologic Central Nervous System:
transient ischemic attack
subarachnoid hemorrhage
ischemic stroke
spinal arteriovenous malformation
cerebral arteriovenous malformation
more
Cardiovascular Heart:
high-output congestive heart failure
right-to-left shunt

Head And Neck Eyes:
conjunctival telangiectases

Head And Neck Mouth:
lip telangiectases
tongue telangiectases
palate telangiectases


Clinical features from OMIM:

610655

Human phenotypes related to Telangiectasia, Hereditary Hemorrhagic, Type 4:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 dyspnea 32 HP:0002094
2 transient ischemic attack 32 HP:0002326
3 migraine 32 HP:0002076
4 conjunctival telangiectasia 32 HP:0000524
5 subarachnoid hemorrhage 32 HP:0002138
6 cerebral hemorrhage 32 HP:0001342
7 cyanosis 32 HP:0000961
8 high-output congestive heart failure 32 HP:0001722
9 arteriovenous fistulas of celiac and mesenteric vessels 32 HP:0002642
10 ischemic stroke 32 HP:0002140
11 spinal arteriovenous malformation 32 HP:0002390
12 lip telangiectasia 32 HP:0000214
13 spontaneous, recurrent epistaxis 32 HP:0004406
14 cerebral arteriovenous malformation 32 HP:0002408
15 pulmonary arteriovenous malformation 32 HP:0006548
16 right-to-left shunt 32 HP:0001694
17 venous varicosities of celiac and mesenteric vessels 32 HP:0002626
18 tongue telangiectasia 32 HP:0000227
19 nasal mucosa telangiectasia 32 HP:0000434
20 palate telangiectasia 32 HP:0002707
21 dilatation of mesenteric artery 32 HP:0011934
22 dilatation of celiac artery 32 HP:0100858

UMLS symptoms related to Telangiectasia, Hereditary Hemorrhagic, Type 4:


dyspnea, cyanosis

Drugs & Therapeutics for Telangiectasia, Hereditary Hemorrhagic, Type 4

Search Clinical Trials , NIH Clinical Center for Telangiectasia, Hereditary Hemorrhagic, Type 4

Genetic Tests for Telangiectasia, Hereditary Hemorrhagic, Type 4

Anatomical Context for Telangiectasia, Hereditary Hemorrhagic, Type 4

MalaCards organs/tissues related to Telangiectasia, Hereditary Hemorrhagic, Type 4:

41
Liver, Brain, Testes, Endothelial, Tongue, Bone, Eye

Publications for Telangiectasia, Hereditary Hemorrhagic, Type 4

Variations for Telangiectasia, Hereditary Hemorrhagic, Type 4

Expression for Telangiectasia, Hereditary Hemorrhagic, Type 4

Search GEO for disease gene expression data for Telangiectasia, Hereditary Hemorrhagic, Type 4.

Pathways for Telangiectasia, Hereditary Hemorrhagic, Type 4

GO Terms for Telangiectasia, Hereditary Hemorrhagic, Type 4

Sources for Telangiectasia, Hereditary Hemorrhagic, Type 4

3 CDC
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17 ExPASy
19 FMA
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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