HHT3
MCID: TLN009
MIFTS: 16

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 57 13
Hereditary Hemorrhagic Telangiectasia Type 3 53 29
Hht3 57 53
Telangiectasia Hereditary Hemorrhagic Type 3 53
Osler Weber Rendu Syndrome Type 3 53
Osler-Rendu-Weber Syndrome 3 73
Orw3 53

Classifications:



External Ids:

OMIM 57 601101
UMLS 73 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. An important gene associated with Telangiectasia, Hereditary Hemorrhagic, Type 3 is HHT3 (Osler-Rendu-Weber Syndrome 3). Affiliated tissues include skin, liver and bone.

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

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 29

Anatomical Context for Telangiectasia, Hereditary Hemorrhagic, Type 3

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

41
Skin, Liver, Bone, Eye

Publications for Telangiectasia, Hereditary Hemorrhagic, Type 3

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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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