HHT1
MCID: TLN006
MIFTS: 43

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 58 13
Hereditary Hemorrhagic Telangiectasia Type 1 30 6
Orw Disease 58 76
Hht1 58 76
Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber 58
Hereditary Hemorrhagic Telangiectasia of Rendu, Osler, and Weber 76
Telangiectasia Hemorrhagic, Hereditary, Type 1 41
Telangiectasia, Hereditary Hemorrhagic, 1 76
Hereditary Hemorrhagic Telangiectasia 74
Osler-Rendu-Weber Syndrome 1 76
Osler-Rendu-Weber Syndrome 76
Osler-Rendu-Weber Disease 58
Orw1 76
Hht 58

Characteristics:

OMIM:

58
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:

33
telangiectasia, hereditary hemorrhagic, type 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Telangiectasia, Hereditary Hemorrhagic, Type 1

OMIM : 58 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 brain, skin and tongue, and related phenotypes are seizures and dyspnea

UniProtKB/Swiss-Prot : 76 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 34)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension, primary, 1 31.2 ACVRL1 ENG
2 telangiectasis 30.1 ACVRL1 ENG
3 pulmonary arteriovenous malformation 29.8 ACVRL1 ENG
4 arteriovenous malformation 29.8 ACVRL1 ENG
5 hereditary hemorrhagic telangiectasia 29.7 ACVRL1 ENG
6 weber syndrome 29.6 ACVRL1 ENG
7 vascular disease 29.2 ACVRL1 ENG
8 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.2
9 pulmonary arterio-veinous fistula 11.8
10 telangiectasia, hereditary hemorrhagic, type 3 11.6
11 telangiectasia, hereditary hemorrhagic, type 4 11.6
12 telangiectasia, hereditary hemorrhagic, type 5 11.2
13 meckel diverticulum 10.3
14 hepatopulmonary syndrome 10.3
15 juvenile polyposis syndrome 10.1
16 arteriovenous fistula 10.1
17 pulmonary arteriovenous fistulas 10.0
18 telangiectasia, hereditary hemorrhagic, type 2 10.0
19 myocardial infarction 10.0
20 acute promyelocytic leukemia 9.9
21 arthritis 9.9
22 human venous malformation 9.9
23 leukemia 9.9
24 sleep apnea 9.9
25 thrombosis 9.9
26 hermansky-pudlak syndrome 9.9
27 juvenile rheumatoid arthritis 9.9
28 polymicrogyria 9.9
29 spasticity 9.9
30 heritable pulmonary arterial hypertension 9.8 ACVRL1 ENG
31 angiodysplasia 9.8 ACVRL1 ENG
32 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 9.8 ACVRL1 ENG
33 pulmonary hypertension 9.7 ACVRL1 ENG
34 arteriovenous malformations of the brain 9.7 ACVRL1 ENG

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

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

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

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
dyspnea

Neurologic Central Nervous System:
transient ischemic attack
subarachnoid hemorrhage
brain abscess
cerebral arteriovenous malformation
ischemic stroke
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

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 30

Anatomical Context for Telangiectasia, Hereditary Hemorrhagic, Type 1

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

42
Brain, Skin, Tongue, Colon, Endothelial, Eye

Publications for Telangiectasia, Hereditary Hemorrhagic, Type 1

Articles related to Telangiectasia, Hereditary Hemorrhagic, Type 1:

(show all 20)
# Title Authors Year
1
Delayed diagnosis of hereditary hemorrhagic telangiectasia type 1 in a 10-year-old boy with presentation of failure to thrive and cerebral abscess. ( 30887684 )
2019
2
Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1. ( 28231770 )
2017
3
Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1. ( 28564608 )
2017
4
Inhibiting DPP4 in a mouse model of HHT1 results in a shift towards regenerative macrophages and reduces fibrosis after myocardial infarction. ( 29253907 )
2017
5
Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14. ( 25815003 )
2015
6
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function. ( 25312062 )
2015
7
A novel endoglin mutation in hereditary hemorrhagic telangiectasia type 1: a case report. ( 25760803 )
2015
8
Endoglin involvement in integrin-mediated cell adhesion as a putative pathogenic mechanism in hereditary hemorrhagic telangiectasia type 1 (HHT1). ( 25709613 )
2014
9
Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1. ( 24267784 )
2013
10
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. ( 19553198 )
2011
11
Hereditary hemorrhagic telangiectasia type 1 and 2 mutations in Finland. ( 18607909 )
2008
12
Reduced endothelial secretion and plasma levels of transforming growth factor-beta1 in patients with hereditary hemorrhagic telangiectasia type 1. ( 15907823 )
2005
13
Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. ( 10625079 )
2000
14
Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1. ( 10702408 )
2000
15
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). ( 10751092 )
2000
16
Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. ( 10545596 )
1999
17
Cloning of the promoter region of human endoglin, the target gene for hereditary hemorrhagic telangiectasia type 1. ( 9845534 )
1998
18
Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. ( 9366572 )
1997
19
Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2. ( 8782041 )
1996
20
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:

76 (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 rs143416981
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 926)
# 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 NM_000118.3(ENG): c.360+4A> G single nucleotide variant Pathogenic GRCh38 Chromosome 9, 127829683: 127829683
6 ENG NM_000118.3(ENG): c.360+4A> G single nucleotide variant Pathogenic GRCh37 Chromosome 9, 130591962: 130591962
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 NM_000118.3(ENG): c.360C> A (p.Tyr120Ter) single nucleotide variant Pathogenic rs121918402 GRCh37 Chromosome 9, 130591966: 130591966
12 ENG NM_000118.3(ENG): c.360C> A (p.Tyr120Ter) single nucleotide variant Pathogenic rs121918402 GRCh38 Chromosome 9, 127829687: 127829687
13 SMAD4 NM_005359.5(SMAD4): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs145988618 GRCh37 Chromosome 18, 48575160: 48575160
14 SMAD4 NM_005359.5(SMAD4): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs145988618 GRCh38 Chromosome 18, 51048790: 51048790
15 SMAD4 NM_005359.5(SMAD4): c.1573A> G (p.Ile525Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149755320 GRCh37 Chromosome 18, 48604751: 48604751
16 SMAD4 NM_005359.5(SMAD4): c.1573A> G (p.Ile525Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149755320 GRCh38 Chromosome 18, 51078381: 51078381
17 SMAD4 NM_005359.5(SMAD4): c.424+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200772603 GRCh38 Chromosome 18, 51048865: 51048865
18 SMAD4 NM_005359.5(SMAD4): c.424+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200772603 GRCh37 Chromosome 18, 48575235: 48575235
19 SMAD4 NM_005359.5(SMAD4): c.1086T> C (p.Phe362=) single nucleotide variant Benign/Likely benign rs1801250 GRCh37 Chromosome 18, 48591923: 48591923
20 SMAD4 NM_005359.5(SMAD4): c.1086T> C (p.Phe362=) single nucleotide variant Benign/Likely benign rs1801250 GRCh38 Chromosome 18, 51065553: 51065553
21 ACVRL1 NM_000020.2(ACVRL1): c.313+11C> T single nucleotide variant Benign rs2071218 GRCh37 Chromosome 12, 52307145: 52307145
22 ACVRL1 NM_000020.2(ACVRL1): c.313+11C> T single nucleotide variant Benign rs2071218 GRCh38 Chromosome 12, 51913361: 51913361
23 ENG NM_000118.3(ENG): c.207G> A (p.Leu69=) single nucleotide variant Benign/Likely benign rs11545664 GRCh37 Chromosome 9, 130605385: 130605385
24 ENG NM_000118.3(ENG): c.207G> A (p.Leu69=) single nucleotide variant Benign/Likely benign rs11545664 GRCh38 Chromosome 9, 127843106: 127843106
25 ENG NM_000118.3(ENG): c.1029C> T (p.Thr343=) single nucleotide variant Benign/Likely benign rs3739817 GRCh37 Chromosome 9, 130586688: 130586688
26 ENG NM_000118.3(ENG): c.1029C> T (p.Thr343=) single nucleotide variant Benign/Likely benign rs3739817 GRCh38 Chromosome 9, 127824409: 127824409
27 ENG NM_000118.3(ENG): c.1060C> T (p.Leu354=) single nucleotide variant Benign/Likely benign rs36092484 GRCh37 Chromosome 9, 130586657: 130586657
28 ENG NM_000118.3(ENG): c.1060C> T (p.Leu354=) single nucleotide variant Benign/Likely benign rs36092484 GRCh38 Chromosome 9, 127824378: 127824378
29 SMAD4 NM_005359.5(SMAD4): c.455-6A> G single nucleotide variant Benign/Likely benign rs181178864 GRCh38 Chromosome 18, 51054775: 51054775
30 SMAD4 NM_005359.5(SMAD4): c.455-6A> G single nucleotide variant Benign/Likely benign rs181178864 GRCh37 Chromosome 18, 48581145: 48581145
31 SMAD4 NM_005359.5(SMAD4): c.*11C> T single nucleotide variant Benign/Likely benign rs11663402 GRCh38 Chromosome 18, 51078478: 51078478
32 SMAD4 NM_005359.5(SMAD4): c.*11C> T single nucleotide variant Benign/Likely benign rs11663402 GRCh37 Chromosome 18, 48604848: 48604848
33 ENG NM_000118.3(ENG): c.1844C> T (p.Ser615Leu) single nucleotide variant Benign/Likely benign rs148002300 GRCh37 Chromosome 9, 130578230: 130578230
34 ENG NM_000118.3(ENG): c.1844C> T (p.Ser615Leu) single nucleotide variant Benign/Likely benign rs148002300 GRCh38 Chromosome 9, 127815951: 127815951
35 ENG NM_000118.3(ENG): c.1510G> A (p.Val504Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116330805 GRCh37 Chromosome 9, 130580575: 130580575
36 ENG NM_000118.3(ENG): c.1510G> A (p.Val504Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116330805 GRCh38 Chromosome 9, 127818296: 127818296
37 ENG NM_000118.3(ENG): c.640G> A (p.Gly214Ser) single nucleotide variant Uncertain significance rs150932144 GRCh37 Chromosome 9, 130588023: 130588023
38 ENG NM_000118.3(ENG): c.640G> A (p.Gly214Ser) single nucleotide variant Uncertain significance rs150932144 GRCh38 Chromosome 9, 127825744: 127825744
39 ENG NM_000118.3(ENG): c.392C> T (p.Pro131Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139398993 GRCh37 Chromosome 9, 130588920: 130588920
40 ENG NM_000118.3(ENG): c.392C> T (p.Pro131Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139398993 GRCh38 Chromosome 9, 127826641: 127826641
41 ENG NM_000118.3(ENG): c.1273-2A> G single nucleotide variant Pathogenic rs373842615 GRCh37 Chromosome 9, 130581941: 130581941
42 ENG NM_000118.3(ENG): c.1273-2A> G single nucleotide variant Pathogenic rs373842615 GRCh38 Chromosome 9, 127819662: 127819662
43 ENG NM_000118.3(ENG): c.1096G> C (p.Asp366His) single nucleotide variant Benign/Likely benign rs1800956 GRCh37 Chromosome 9, 130586621: 130586621
44 ENG NM_000118.3(ENG): c.1096G> C (p.Asp366His) single nucleotide variant Benign/Likely benign rs1800956 GRCh38 Chromosome 9, 127824342: 127824342
45 ENG NM_000118.3(ENG): c.14C> T (p.Thr5Met) single nucleotide variant Benign/Likely benign rs35400405 GRCh38 Chromosome 9, 127854342: 127854342
46 ENG NM_000118.3(ENG): c.14C> T (p.Thr5Met) single nucleotide variant Benign/Likely benign rs35400405 GRCh37 Chromosome 9, 130616621: 130616621
47 ENG NM_000118.3(ENG): c.259C> T (p.Gln87Ter) single nucleotide variant Likely pathogenic rs730880096 GRCh37 Chromosome 9, 130592067: 130592067
48 ENG NM_000118.3(ENG): c.259C> T (p.Gln87Ter) single nucleotide variant Likely pathogenic rs730880096 GRCh38 Chromosome 9, 127829788: 127829788
49 SMAD4 NM_005359.5(SMAD4): c.677C> T (p.Ala226Val) single nucleotide variant Conflicting interpretations of pathogenicity rs539739051 GRCh38 Chromosome 18, 51058134: 51058134
50 SMAD4 NM_005359.5(SMAD4): c.677C> T (p.Ala226Val) single nucleotide variant Conflicting interpretations of pathogenicity rs539739051 GRCh37 Chromosome 18, 48584504: 48584504

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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34 ICD10
35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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