HHT1
MCID: TLN006
MIFTS: 50

Telangiectasia, Hereditary Hemorrhagic, Type 1 (HHT1)

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 1

MalaCards integrated aliases for Telangiectasia, Hereditary Hemorrhagic, Type 1:

Name: Telangiectasia, Hereditary Hemorrhagic, Type 1 57 13
Hereditary Hemorrhagic Telangiectasia Type 1 29 6
Orw Disease 57 75
Hht1 57 75
Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber 57
Hereditary Hemorrhagic Telangiectasia of Rendu, Osler, and Weber 75
Telangiectasia Hemorrhagic, Hereditary, Rendu, Osler and Weber 40
Telangiectasia, Hereditary Hemorrhagic, 1 75
Hereditary Hemorrhagic Telangiectasia 73
Osler-Rendu-Weber Syndrome 1 75
Osler-Rendu-Weber Syndrome 75
Osler-Rendu-Weber Disease 57
Orw1 75
Hht 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history)
cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000
pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2


HPO:

32
telangiectasia, hereditary hemorrhagic, type 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Telangiectasia, Hereditary Hemorrhagic, Type 1

OMIM : 57 Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. (187300)

MalaCards based summary : Telangiectasia, Hereditary Hemorrhagic, Type 1, also known as hereditary hemorrhagic telangiectasia type 1, is related to pulmonary hypertension, primary, 1 and telangiectasis, and has symptoms including seizures, dyspnea and cyanosis. An important gene associated with Telangiectasia, Hereditary Hemorrhagic, Type 1 is ENG (Endoglin), and among its related pathways/superpathways is TGF-beta Signaling Pathways. Affiliated tissues include liver, skin and brain, and related phenotypes are seizures and dyspnea

UniProtKB/Swiss-Prot : 75 Telangiectasia, hereditary hemorrhagic, 1: A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.

Related Diseases for Telangiectasia, Hereditary Hemorrhagic, Type 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension, primary, 1 31.3 ENG ACVRL1
2 telangiectasis 30.3 ENG ACVRL1
3 hereditary hemorrhagic telangiectasia 29.9 ENG ACVRL1
4 pulmonary arteriovenous malformation 29.9 ENG ACVRL1
5 arteriovenous malformation 29.9 ENG ACVRL1
6 weber syndrome 29.7 ENG ACVRL1
7 vascular disease 29.4 ENG ACVRL1
8 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 11.9
9 pulmonary arterio-veinous fistula 11.7
10 telangiectasia, hereditary hemorrhagic, type 2 11.6
11 telangiectasia, hereditary hemorrhagic, type 3 11.6
12 telangiectasia, hereditary hemorrhagic, type 4 11.2
13 telangiectasia, hereditary hemorrhagic, type 5 11.2
14 hepatopulmonary syndrome 10.2
15 arteriovenous fistula 10.1
16 pulmonary arteriovenous fistulas 10.0
17 juvenile polyposis syndrome 9.9
18 acute promyelocytic leukemia 9.9
19 arthritis 9.9
20 human venous malformation 9.9
21 leukemia 9.9
22 sleep apnea 9.9
23 thrombosis 9.9
24 juvenile rheumatoid arthritis 9.9
25 spasticity 9.9
26 heritable pulmonary arterial hypertension 9.9 ENG ACVRL1
27 angiodysplasia 9.9 ENG ACVRL1
28 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 9.8 ENG ACVRL1
29 pulmonary hypertension 9.8 ENG ACVRL1
30 arteriovenous malformations of the brain 9.8 ENG ACVRL1

Comorbidity relations with Telangiectasia, Hereditary Hemorrhagic, Type 1 via Phenotypic Disease Network (PDN):


Active Peptic Ulcer Disease Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Iron Deficiency Anemia

Graphical network of the top 20 diseases related to Telangiectasia, Hereditary Hemorrhagic, Type 1:



Diseases related to Telangiectasia, Hereditary Hemorrhagic, Type 1

Symptoms & Phenotypes for Telangiectasia, Hereditary Hemorrhagic, Type 1

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
dyspnea

Neurologic Central Nervous System:
transient ischemic attack
subarachnoid hemorrhage
ischemic stroke
brain abscess
spinal arteriovenous malformation
more
Abdomen Liver:
cirrhosis
hepatic arteriovenous malformation

Cardiovascular Heart:
high-output congestive heart failure
right-to-left shunt

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

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)

Hematology:
anemia
polycythemia

Abdomen Gastrointestinal:
arteriovenous malformation
hematemesis
hematochezia
melena
gi hemorrhage (onset usually in 5th -6th decade)
more
Respiratory Lung:
cyanosis
pulmonary arteriovenous malformation (pavm), especially lower lobes

Skeletal Hands:
clubbing
nail bed telangiectases
finger pad telangiectases

Head And Neck Eyes:
conjunctival telangiectases

Head And Neck Mouth:
lip telangiectases
tongue telangiectases
palate telangiectases


Clinical features from OMIM:

187300

Human phenotypes related to Telangiectasia, Hereditary Hemorrhagic, Type 1:

32 (show all 37)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 dyspnea 32 HP:0002094
3 anemia 32 HP:0001903
4 transient ischemic attack 32 HP:0002326
5 gastrointestinal angiodysplasia 32 HP:0000471
6 cirrhosis 32 HP:0001394
7 migraine 32 HP:0002076
8 conjunctival telangiectasia 32 HP:0000524
9 hematemesis 32 HP:0002248
10 hematochezia 32 HP:0002573
11 subarachnoid hemorrhage 32 HP:0002138
12 cerebral hemorrhage 32 HP:0001342
13 polycythemia 32 HP:0001901
14 cyanosis 32 HP:0000961
15 high-output congestive heart failure 32 HP:0001722
16 clubbing 32 HP:0001217
17 arteriovenous fistulas of celiac and mesenteric vessels 32 HP:0002642
18 ischemic stroke 32 HP:0002140
19 brain abscess 32 HP:0030049
20 spinal arteriovenous malformation 32 HP:0002390
21 lip telangiectasia 32 HP:0000214
22 melena 32 HP:0002249
23 spontaneous, recurrent epistaxis 32 HP:0004406
24 cerebral arteriovenous malformation 32 HP:0002408
25 pulmonary arteriovenous malformation 32 HP:0006548
26 right-to-left shunt 32 HP:0001694
27 hepatic arteriovenous malformation 32 HP:0006574
28 venous varicosities of celiac and mesenteric vessels 32 HP:0002626
29 tongue telangiectasia 32 HP:0000227
30 nasal mucosa telangiectasia 32 HP:0000434
31 nail bed telangiectasia 32 HP:0001232
32 gastrointestinal telangiectasia 32 HP:0002604
33 gastrointestinal arteriovenous malformation 32 HP:0002629
34 palate telangiectasia 32 HP:0002707
35 fingerpad telangiectases 32 HP:0006107
36 dilatation of mesenteric artery 32 HP:0011934
37 dilatation of celiac artery 32 HP:0100858

UMLS symptoms related to Telangiectasia, Hereditary Hemorrhagic, Type 1:


seizures, dyspnea, cyanosis, clubbing

Drugs & Therapeutics for Telangiectasia, Hereditary Hemorrhagic, Type 1

Search Clinical Trials , NIH Clinical Center for Telangiectasia, Hereditary Hemorrhagic, Type 1

Genetic Tests for Telangiectasia, Hereditary Hemorrhagic, Type 1

Genetic tests related to Telangiectasia, Hereditary Hemorrhagic, Type 1:

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

Anatomical Context for Telangiectasia, Hereditary Hemorrhagic, Type 1

MalaCards organs/tissues related to Telangiectasia, Hereditary Hemorrhagic, Type 1:

41
Liver, Skin, Brain, Lung, Tongue, Bone, Eye

Publications for Telangiectasia, Hereditary Hemorrhagic, Type 1

Articles related to Telangiectasia, Hereditary Hemorrhagic, Type 1:

(show all 13)
# Title Authors Year
1
Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1. ( 28231770 )
2017
2
A novel endoglin mutation in hereditary hemorrhagic telangiectasia type 1: A case report. ( 25760803 )
2015
3
Endoglin involvement in integrin-mediated cell adhesion as a putative pathogenic mechanism in hereditary hemorrhagic telangiectasia type 1 (HHT1). ( 25709613 )
2014
4
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function. ( 25312062 )
2014
5
Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1. ( 24267784 )
2013
6
Hereditary hemorrhagic telangiectasia type 1 and 2 mutations in Finland. ( 18607909 )
2008
7
Reduced endothelial secretion and plasma levels of transforming growth factor-beta1 in patients with hereditary hemorrhagic telangiectasia type 1. ( 15907823 )
2005
8
Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. ( 10625079 )
2000
9
Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1. ( 10702408 )
2000
10
Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. ( 10545596 )
1999
11
Cloning of the promoter region of human endoglin, the target gene for hereditary hemorrhagic telangiectasia type 1. ( 9845534 )
1998
12
Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. ( 9366572 )
1997
13
Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. ( 8595426 )
1995

Variations for Telangiectasia, Hereditary Hemorrhagic, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Telangiectasia, Hereditary Hemorrhagic, Type 1:

75 (show all 32)
# Symbol AA change Variation ID SNP ID
1 ENG p.Gly52Val VAR_005193
2 ENG p.Cys53Arg VAR_005194
3 ENG p.Trp149Cys VAR_005195 rs878853657
4 ENG p.Leu306Pro VAR_005197
5 ENG p.Ala160Asp VAR_009120
6 ENG p.Leu221Pro VAR_009121
7 ENG p.Leu8Pro VAR_026774
8 ENG p.Val49Phe VAR_026775
9 ENG p.Leu107Arg VAR_026776
10 ENG p.Ile263Thr VAR_026780
11 ENG p.Cys412Ser VAR_026781
12 ENG p.Val504Met VAR_026782 rs116330805
13 ENG p.Gly413Val VAR_037140 rs121918401
14 ENG p.Ala11Asp VAR_070279
15 ENG p.Val105Asp VAR_070280
16 ENG p.Ala175Glu VAR_070282
17 ENG p.Ile220Thr VAR_070285
18 ENG p.Leu221Gln VAR_070286
19 ENG p.Val238Glu VAR_070288 rs106050141
20 ENG p.Ile263Ser VAR_070289
21 ENG p.Met269Arg VAR_070290
22 ENG p.Ala308Asp VAR_070291
23 ENG p.Cys363Ser VAR_070293
24 ENG p.Cys394Tyr VAR_070295
25 ENG p.Arg437Trp VAR_070297
26 ENG p.Leu490Ser VAR_070298 rs763475207
27 ENG p.Arg529His VAR_070299 rs863223538
28 ENG p.Arg529Pro VAR_070300
29 ENG p.Gly545Asp VAR_070301
30 ENG p.Leu547Pro VAR_070303
31 ENG p.Gly603Arg VAR_070306
32 ENG p.Ala604Asp VAR_070307

ClinVar genetic disease variations for Telangiectasia, Hereditary Hemorrhagic, Type 1:

6 (show top 50) (show all 929)
# Gene Variation Type Significance SNP ID Assembly Location
1 ENG NM_000118.3(ENG): c.831C> G (p.Tyr277Ter) single nucleotide variant Pathogenic rs121918400 GRCh37 Chromosome 9, 130587239: 130587239
2 ENG NM_000118.3(ENG): c.831C> G (p.Tyr277Ter) single nucleotide variant Pathogenic rs121918400 GRCh38 Chromosome 9, 127824960: 127824960
3 ENG ENG, 39-BP DEL, NT882 deletion Pathogenic
4 ENG ENG, 2-BP DEL, NT1153 deletion Pathogenic
5 ENG ENG, IVS3DS, A-G, +4 single nucleotide variant Pathogenic
6 ENG ENG, IVS3DS, G-A, +1 deletion Pathogenic
7 ENG NM_000118.3(ENG): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs267606783 GRCh37 Chromosome 9, 130616633: 130616633
8 ENG NM_000118.3(ENG): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs267606783 GRCh38 Chromosome 9, 127854354: 127854354
9 ENG NM_000118.3(ENG): c.1238G> T (p.Gly413Val) single nucleotide variant Pathogenic rs121918401 GRCh37 Chromosome 9, 130582213: 130582213
10 ENG NM_000118.3(ENG): c.1238G> T (p.Gly413Val) single nucleotide variant Pathogenic rs121918401 GRCh38 Chromosome 9, 127819934: 127819934
11 ENG ENG, IVS1DS, G-A, +1 single nucleotide variant Pathogenic
12 ENG NM_000118.3(ENG): c.360C> A (p.Tyr120Ter) single nucleotide variant Pathogenic rs121918402 GRCh37 Chromosome 9, 130591966: 130591966
13 ENG NM_000118.3(ENG): c.360C> A (p.Tyr120Ter) single nucleotide variant Pathogenic rs121918402 GRCh38 Chromosome 9, 127829687: 127829687
14 SMAD4 NM_005359.5(SMAD4): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs145988618 GRCh37 Chromosome 18, 48575160: 48575160
15 SMAD4 NM_005359.5(SMAD4): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs145988618 GRCh38 Chromosome 18, 51048790: 51048790
16 SMAD4 NM_005359.5(SMAD4): c.1573A> G (p.Ile525Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149755320 GRCh37 Chromosome 18, 48604751: 48604751
17 SMAD4 NM_005359.5(SMAD4): c.1573A> G (p.Ile525Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149755320 GRCh38 Chromosome 18, 51078381: 51078381
18 SMAD4 NM_005359.5(SMAD4): c.424+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200772603 GRCh38 Chromosome 18, 51048865: 51048865
19 SMAD4 NM_005359.5(SMAD4): c.424+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200772603 GRCh37 Chromosome 18, 48575235: 48575235
20 SMAD4 NM_005359.5(SMAD4): c.1086T> C (p.Phe362=) single nucleotide variant Benign/Likely benign rs1801250 GRCh37 Chromosome 18, 48591923: 48591923
21 SMAD4 NM_005359.5(SMAD4): c.1086T> C (p.Phe362=) single nucleotide variant Benign/Likely benign rs1801250 GRCh38 Chromosome 18, 51065553: 51065553
22 ACVRL1 NM_000020.2(ACVRL1): c.313+11C> T single nucleotide variant Benign rs2071218 GRCh37 Chromosome 12, 52307145: 52307145
23 ACVRL1 NM_000020.2(ACVRL1): c.313+11C> T single nucleotide variant Benign rs2071218 GRCh38 Chromosome 12, 51913361: 51913361
24 ENG NM_000118.3(ENG): c.207G> A (p.Leu69=) single nucleotide variant Benign/Likely benign rs11545664 GRCh37 Chromosome 9, 130605385: 130605385
25 ENG NM_000118.3(ENG): c.207G> A (p.Leu69=) single nucleotide variant Benign/Likely benign rs11545664 GRCh38 Chromosome 9, 127843106: 127843106
26 ENG NM_000118.3(ENG): c.1029C> T (p.Thr343=) single nucleotide variant Benign/Likely benign rs3739817 GRCh37 Chromosome 9, 130586688: 130586688
27 ENG NM_000118.3(ENG): c.1029C> T (p.Thr343=) single nucleotide variant Benign/Likely benign rs3739817 GRCh38 Chromosome 9, 127824409: 127824409
28 ENG NM_000118.3(ENG): c.1060C> T (p.Leu354=) single nucleotide variant Benign/Likely benign rs36092484 GRCh37 Chromosome 9, 130586657: 130586657
29 ENG NM_000118.3(ENG): c.1060C> T (p.Leu354=) single nucleotide variant Benign/Likely benign rs36092484 GRCh38 Chromosome 9, 127824378: 127824378
30 SMAD4 NM_005359.5(SMAD4): c.455-6A> G single nucleotide variant Benign/Likely benign rs181178864 GRCh38 Chromosome 18, 51054775: 51054775
31 SMAD4 NM_005359.5(SMAD4): c.455-6A> G single nucleotide variant Benign/Likely benign rs181178864 GRCh37 Chromosome 18, 48581145: 48581145
32 SMAD4 NM_005359.5(SMAD4): c.*11C> T single nucleotide variant Benign/Likely benign rs11663402 GRCh38 Chromosome 18, 51078478: 51078478
33 SMAD4 NM_005359.5(SMAD4): c.*11C> T single nucleotide variant Benign/Likely benign rs11663402 GRCh37 Chromosome 18, 48604848: 48604848
34 ENG NM_000118.3(ENG): c.1844C> T (p.Ser615Leu) single nucleotide variant Likely benign rs148002300 GRCh37 Chromosome 9, 130578230: 130578230
35 ENG NM_000118.3(ENG): c.1844C> T (p.Ser615Leu) single nucleotide variant Likely benign rs148002300 GRCh38 Chromosome 9, 127815951: 127815951
36 ENG NM_000118.3(ENG): c.1510G> A (p.Val504Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116330805 GRCh37 Chromosome 9, 130580575: 130580575
37 ENG NM_000118.3(ENG): c.1510G> A (p.Val504Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116330805 GRCh38 Chromosome 9, 127818296: 127818296
38 ENG NM_000118.3(ENG): c.640G> A (p.Gly214Ser) single nucleotide variant Uncertain significance rs150932144 GRCh37 Chromosome 9, 130588023: 130588023
39 ENG NM_000118.3(ENG): c.640G> A (p.Gly214Ser) single nucleotide variant Uncertain significance rs150932144 GRCh38 Chromosome 9, 127825744: 127825744
40 ENG NM_000118.3(ENG): c.392C> T (p.Pro131Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139398993 GRCh37 Chromosome 9, 130588920: 130588920
41 ENG NM_000118.3(ENG): c.392C> T (p.Pro131Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139398993 GRCh38 Chromosome 9, 127826641: 127826641
42 ENG NM_000118.3(ENG): c.1273-2A> G single nucleotide variant Pathogenic rs373842615 GRCh37 Chromosome 9, 130581941: 130581941
43 ENG NM_000118.3(ENG): c.1273-2A> G single nucleotide variant Pathogenic rs373842615 GRCh38 Chromosome 9, 127819662: 127819662
44 ENG NM_000118.3(ENG): c.1096G> C (p.Asp366His) single nucleotide variant Benign/Likely benign rs1800956 GRCh37 Chromosome 9, 130586621: 130586621
45 ENG NM_000118.3(ENG): c.1096G> C (p.Asp366His) single nucleotide variant Benign/Likely benign rs1800956 GRCh38 Chromosome 9, 127824342: 127824342
46 ENG NM_000118.3(ENG): c.14C> T (p.Thr5Met) single nucleotide variant Benign/Likely benign rs35400405 GRCh38 Chromosome 9, 127854342: 127854342
47 ENG NM_000118.3(ENG): c.14C> T (p.Thr5Met) single nucleotide variant Benign/Likely benign rs35400405 GRCh37 Chromosome 9, 130616621: 130616621
48 ENG NM_000118.3(ENG): c.259C> T (p.Gln87Ter) single nucleotide variant Likely pathogenic rs730880096 GRCh37 Chromosome 9, 130592067: 130592067
49 ENG NM_000118.3(ENG): c.259C> T (p.Gln87Ter) single nucleotide variant Likely pathogenic rs730880096 GRCh38 Chromosome 9, 127829788: 127829788
50 SMAD4 NM_005359.5(SMAD4): c.677C> T (p.Ala226Val) single nucleotide variant Conflicting interpretations of pathogenicity rs539739051 GRCh38 Chromosome 18, 51058134: 51058134

Expression for Telangiectasia, Hereditary Hemorrhagic, Type 1

Search GEO for disease gene expression data for Telangiectasia, Hereditary Hemorrhagic, Type 1.

Pathways for Telangiectasia, Hereditary Hemorrhagic, Type 1

Pathways related to Telangiectasia, Hereditary Hemorrhagic, Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.61 ACVRL1 ENG

GO Terms for Telangiectasia, Hereditary Hemorrhagic, Type 1

Cellular components related to Telangiectasia, Hereditary Hemorrhagic, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.96 ACVRL1 ENG
2 receptor complex GO:0043235 8.62 ACVRL1 ENG

Biological processes related to Telangiectasia, Hereditary Hemorrhagic, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.48 ACVRL1 ENG
2 angiogenesis GO:0001525 9.46 ACVRL1 ENG
3 positive regulation of angiogenesis GO:0045766 9.43 ACVRL1 ENG
4 negative regulation of cell migration GO:0030336 9.4 ACVRL1 ENG
5 BMP signaling pathway GO:0030509 9.37 ACVRL1 ENG
6 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.32 ACVRL1 ENG
7 positive regulation of BMP signaling pathway GO:0030513 9.26 ACVRL1 ENG
8 endocardial cushion morphogenesis GO:0003203 9.16 ACVRL1 ENG
9 dorsal aorta morphogenesis GO:0035912 8.96 ACVRL1 ENG
10 endocardial cushion to mesenchymal transition GO:0090500 8.62 ACVRL1 ENG

Molecular functions related to Telangiectasia, Hereditary Hemorrhagic, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 8.96 ACVRL1 ENG
2 activin binding GO:0048185 8.62 ACVRL1 ENG

Sources for Telangiectasia, Hereditary Hemorrhagic, Type 1

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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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
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74 UMLS via Orphanet
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