HHT3
MCID: TLN009
MIFTS: 18

Telangiectasia, Hereditary Hemorrhagic, Type 3 (HHT3)

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

Aliases & Classifications for Telangiectasia, Hereditary Hemorrhagic, Type 3

MalaCards integrated aliases for Telangiectasia, Hereditary Hemorrhagic, Type 3:

Name: Telangiectasia, Hereditary Hemorrhagic, Type 3 57
Hereditary Hemorrhagic Telangiectasia Type 3 20 29
Hht3 57 20
Hereditary Hemorrhagic Telangiectasia, Type 3 13
Telangiectasia Hereditary Hemorrhagic Type 3 20
Osler Weber Rendu Syndrome Type 3 20
Osler-Rendu-Weber Syndrome 3 70
Orw3 20

Classifications:



External Ids:

OMIM® 57 601101
OMIM Phenotypic Series 57 PS187300
UMLS 70 C1832774

Summaries for Telangiectasia, Hereditary Hemorrhagic, Type 3

MalaCards based summary : Telangiectasia, Hereditary Hemorrhagic, Type 3, also known as hereditary hemorrhagic telangiectasia type 3, is related to weber syndrome and arteriovenous malformation. An important gene associated with Telangiectasia, Hereditary Hemorrhagic, Type 3 is HHT3 (Osler-Rendu-Weber Syndrome 3). Affiliated tissues include liver.

More information from OMIM: 601101 PS187300

Related Diseases for Telangiectasia, Hereditary Hemorrhagic, Type 3

Diseases in the Hereditary Hemorrhagic Telangiectasia family:

Telangiectasia, Hereditary Hemorrhagic, Type 1 Telangiectasia, Hereditary Hemorrhagic, Type 2
Telangiectasia, Hereditary Hemorrhagic, Type 3 Telangiectasia, Hereditary Hemorrhagic, Type 4
Telangiectasia, Hereditary Hemorrhagic, Type 5

Diseases related to Telangiectasia, Hereditary Hemorrhagic, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 weber syndrome 11.0
2 arteriovenous malformation 9.9
3 hereditary hemorrhagic telangiectasia 9.9
4 telangiectasis 9.9

Symptoms & Phenotypes for Telangiectasia, Hereditary Hemorrhagic, Type 3

Clinical features from OMIM®:

601101 (Updated 05-Apr-2021)

Drugs & Therapeutics for Telangiectasia, Hereditary Hemorrhagic, Type 3

Search Clinical Trials , NIH Clinical Center for Telangiectasia, Hereditary Hemorrhagic, Type 3

Genetic Tests for Telangiectasia, Hereditary Hemorrhagic, Type 3

Genetic tests related to Telangiectasia, Hereditary Hemorrhagic, Type 3:

# Genetic test Affiliating Genes
1 Hereditary Hemorrhagic Telangiectasia Type 3 29

Anatomical Context for Telangiectasia, Hereditary Hemorrhagic, Type 3

MalaCards organs/tissues related to Telangiectasia, Hereditary Hemorrhagic, Type 3:

40
Liver

Publications for Telangiectasia, Hereditary Hemorrhagic, Type 3

Articles related to Telangiectasia, Hereditary Hemorrhagic, Type 3:

(show all 14)
# Title Authors PMID Year
1
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. 57 61
15994879 2005
2
A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1. 57
10899246 2000
3
Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2. 57
8782041 1996
4
Current Status of Clinical Diagnosis and Genetic Analysis of Hereditary Hemorrhagic Telangiectasia in South Korea: Multicenter Case Series and a Systematic Review. 61
31455059 2019
5
Novel protein interactions with endoglin and activin receptor-like kinase 1: potential role in vascular networks. 61
24319055 2014
6
Novel Protein Interactions with Endoglin and Activin Receptor-like Kinase 1: Potential Role in Vascular Networks. 61
33498134 2014
7
Fine mapping of the hereditary haemorrhagic telangiectasia (HHT)3 locus on chromosome 5 excludes VE-Cadherin-2, Sprouty4 and other interval genes. 61
20701797 2010
8
Hereditary hemorrhagic telangiectasia: from molecular biology to patient care. 61
20345718 2010
9
Differential regulation of repeated histone genes during the fission yeast cell cycle. 61
17452352 2007
10
Hereditary hemorrhagic telangiectasia. Genetics, pathogenesis, clinical manifestation and management. 61
17206283 2007
11
Deposition and function of histone H3 variants in Tetrahymena thermophila. 61
16908532 2006
12
A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. 61
16969873 2006
13
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. 61
15879500 2006
14
Constitutive expression, not a particular primary sequence, is the important feature of the H3 replacement variant hv2 in Tetrahymena thermophila. 61
9343391 1997

Variations for Telangiectasia, Hereditary Hemorrhagic, Type 3

Expression for Telangiectasia, Hereditary Hemorrhagic, Type 3

Search GEO for disease gene expression data for Telangiectasia, Hereditary Hemorrhagic, Type 3.

Pathways for Telangiectasia, Hereditary Hemorrhagic, Type 3

GO Terms for Telangiectasia, Hereditary Hemorrhagic, Type 3

Sources for Telangiectasia, Hereditary Hemorrhagic, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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