HHT3
MCID: TLN009
MIFTS: 17

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, 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 58
Hereditary Hemorrhagic Telangiectasia Type 3 54 30
Hht3 58 54
Hereditary Hemorrhagic Telangiectasia, Type 3 13
Telangiectasia Hereditary Hemorrhagic Type 3 54
Osler Weber Rendu Syndrome Type 3 54
Osler-Rendu-Weber Syndrome 3 74
Orw3 54

Classifications:



External Ids:

OMIM 58 601101
UMLS 74 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 telangiectasis. An important gene associated with Telangiectasia, Hereditary Hemorrhagic, Type 3 is HHT3 (Osler-Rendu-Weber Syndrome 3). Affiliated tissues include skin and eye.

Description from OMIM: 601101

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 11.1
2 telangiectasis 10.1

Symptoms & Phenotypes for Telangiectasia, Hereditary Hemorrhagic, Type 3

Clinical features from OMIM:

601101

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 30

Anatomical Context for Telangiectasia, Hereditary Hemorrhagic, Type 3

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

42
Skin, Eye

Publications for Telangiectasia, Hereditary Hemorrhagic, Type 3

Articles related to Telangiectasia, Hereditary Hemorrhagic, Type 3:

# Title Authors Year
1
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. ( 15994879 )
2005

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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