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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Hemostatic Disorders (D020141)
Parent Node: Telangiectasis (D013684)
Parent Node: Vascular Malformations (D054079)
..Starting node ..Telangiectasia, Hereditary Hemorrhagic (D013683)
Child Nodes:
........Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia (C563412)
........Osler-rendu-weber syndrome 2 (C537139)
........Osler-rendu-weber syndrome 3 (C537140)
........Telangiectasia, Hereditary Hemorrhagic, Type 4 (C565691)
Sister Nodes:
..Arterial Tortuosity Syndrome (C565942)
..Arterio-Arterial Fistula (D001159) 2
..Arteriovenous Malformations (D001165) 12
..Capillary Malformations, Congenital, 1 (C562760) 1
..Central Nervous System Vascular Malformations (D020785) 10
..Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (C567863)
..Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
..Hemophilia A with Vascular Abnormality (C564415)
..May-Thurner Syndrome (D062108)
..Patent Ductus Venosus (C562830)
..Prepapillary Vascular Loops (C563287)
..Pulmonary Atresia (D018633) 2
..Scimitar Syndrome (D012587) 1
..Single Umbilical Artery (D058529)
..Splenoportal Vascular Anomalies (C562761)
..Telangiectasia, Hereditary Hemorrhagic (D013683) 4
..Vascular Fistula (D016157) 7
..Vascular Malformation, Primary Intraosseous (C564648)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10900

Name:

Telangiectasia, Hereditary Hemorrhagic

Definition:

An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.

Alternative IDs:

OMIM:187300

ParentIDs:

MESH:D013684|MESH:D020141|MESH:D054079

TreeNumbers:

C14.907.454.900 |C14.907.823.780 |C15.378.463.515.900 |C16.131.240.850.968

Synonyms:

Slim Mappings:

Blood disease|Cardiovascular disease|Congenital abnormality

Reference:

MedGen: D013683
MeSH: D013683
OMIM: 187300;

Genes: ENG;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001903	Anemia
3	HP:0002642	Arteriovenous fistulas of celiac and mesenteric vessels
4	HP:0030049	Brain abscess
5	HP:0002408	Cerebral arteriovenous malformation
6	HP:0001342	Cerebral hemorrhage
7	HP:0001394	Cirrhosis
8	HP:0001217	Clubbing
9	HP:0000524	Conjunctival telangiectasia
10	HP:0000961	Cyanosis
11	HP:0100858	Dilatation of celiac artery
12	HP:0011934	Dilatation of mesenteric artery
13	HP:0002094	Dyspnea
14	HP:0006107	Fingerpad telangiectases
15	HP:0000471	Gastrointestinal angiodysplasia
16	HP:0002629	Gastrointestinal arteriovenous malformation
17	HP:0002604	Gastrointestinal telangiectasia
18	HP:0002248	Hematemesis
19	HP:0002573	Hematochezia
20	HP:0006574	Hepatic arteriovenous malformation
21	HP:0001425	Heterogeneous
22	HP:0001722	High-output congestive heart failure
23	HP:0002140	Ischemic stroke
24	HP:0000214	Lip telangiectasia
25	HP:0002249	Melena
26	HP:0002076	Migraine
27	HP:0001232	Nail bed telangiectasia
28	HP:0000434	Nasal mucosa telangiectasia
29	HP:0002707	Palate telangiectasia
30	HP:0001901	Polycythemia
31	HP:0006548	Pulmonary arteriovenous malformation
32	HP:0001694	Right-to-left shunt
33	HP:0001250	Seizure
34	HP:0002390	Spinal arteriovenous malformation
35	HP:0004406	Spontaneous, recurrent epistaxis
36	HP:0002138	Subarachnoid hemorrhage
37	HP:0000227	Tongue telangiectasia
38	HP:0002326	Transient ischemic attack
39	HP:0002626	Venous varicosities of celiac and mesenteric vessels

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000118.3(ENG):c.1374A>G (p.Pro458=)	2022	ENG	Benign	34828244	RCV000206022; RCV000196025;	N	MedGen:C0039445,OMIM:187300,ORPHA:774,SNOMED CT:21877004; MedGen:CN169374	9	130581049	130581049	NM_000118.3:c.1374A>G	NP_000109.1:p.Pro458=	NC_000009.11:g.130581049T>C	-	CN169374 not specified; C0039445 187300 Osler hemorrhagic telangiectasia syndrome
NM_000118.3(ENG):c.1282A>C (p.Asn428His)	2022	ENG	Uncertain significance	-1	RCV000211515;	N	MedGen:C0039445,OMIM:187300,ORPHA:774,SNOMED CT:21877004	9	130581930	130581930	NM_000118.3:c.1282A>C	NP_000109.1:p.Asn428His		-	C0039445 187300 Osler hemorrhagic telangiectasia syndrome
NM_000118.3(ENG):c.1238G>T (p.Gly413Val)	2022	ENG	Pathogenic	121918401	RCV000018154;	N	MedGen:C0039445,OMIM:187300,ORPHA:774,SNOMED CT:21877004	9	130582213	130582213	NM_000118.3:c.1238G>T	NP_000109.1:p.Gly413Val	NC_000009.11:g.130582213C>A	OMIM Allelic Variant:131195.0007	C0039445 187300 Osler hemorrhagic telangiectasia syndrome
NM_000118.3(ENG):c.831C>G (p.Tyr277Ter)	2022	ENG	Pathogenic	121918400	RCV000018148;	N	MedGen:C0039445,OMIM:187300,ORPHA:774,SNOMED CT:21877004	9	130587239	130587239	NM_000118.3:c.831C>G	NP_000109.1:p.Tyr277Ter	NC_000009.11:g.130587239G>C	OMIM Allelic Variant:131195.0001	C0039445 187300 Osler hemorrhagic telangiectasia syndrome
NM_000118.3(ENG):c.640_643delGGCC (p.Gly214Thrfs)	2022	ENG	Pathogenic	864622666	RCV000205417;	N	MedGen:C0039445,OMIM:187300,ORPHA:774,SNOMED CT:21877004	9	130588020	130588023	NM_000118.3:c.640_643delGGCC	NP_000109.1:p.Gly214Thrfs	NC_000009.11:g.130588020_130588023delGGCC	-	C0039445 187300 Osler hemorrhagic telangiectasia syndrome
NM_000118.3(ENG):c.596G>A (p.Arg199His)	2022	ENG	Uncertain significance	548424658	RCV000211433;	N	MedGen:C0039445,OMIM:187300,ORPHA:774,SNOMED CT:21877004	9	130588067	130588067	NM_000118.3:c.596G>A	NP_000109.1:p.Arg199His	NC_000009.11:g.130588067C>T	-	C0039445 187300 Osler hemorrhagic telangiectasia syndrome
NM_000118.3(ENG):c.572G>A (p.Gly191Asp)	2022	ENG	Benign;Likely benign	41322046	RCV000205223; RCV000200751;	N	MedGen:C0039445,OMIM:187300,ORPHA:774,SNOMED CT:21877004; MedGen:CN169374	9	130588091	130588091	NM_000118.3:c.572G>A	NP_000109.1:p.Gly191Asp	NC_000009.11:g.130588091C>T	-	CN169374 not specified; C0039445 187300 Osler hemorrhagic telangiectasia syndrome
NM_000118.3(ENG):c.360C>A (p.Tyr120Ter)	2022	ENG	Pathogenic	121918402	RCV000018156;	N	MedGen:C0039445,OMIM:187300,ORPHA:774,SNOMED CT:21877004	9	130591966	130591966	NM_000118.3:c.360C>A	NP_000109.1:p.Tyr120Ter	NC_000009.11:g.130591966G>T	OMIM Allelic Variant:131195.0009	C0039445 187300 Osler hemorrhagic telangiectasia syndrome
NM_000118.3(ENG):c.259C>T (p.Gln87Ter)	2022	ENG	Likely pathogenic	730880096	RCV000157221;	N	MedGen:C0039445,OMIM:187300,ORPHA:774,SNOMED CT:21877004	9	130592067	130592067	NM_000118.3:c.259C>T	NP_000109.1:p.Gln87Ter	NC_000009.11:g.130592067G>A	-	C0039445 187300 Osler hemorrhagic telangiectasia syndrome
NM_000118.3(ENG):c.2T>C (p.Met1Thr)	2022	ENG	Pathogenic	267606783	RCV000018153;	N	MedGen:C0039445,OMIM:187300,ORPHA:774,SNOMED CT:21877004	9	130616633	130616633	NM_000118.3:c.2T>C	NP_000109.1:p.Met1Thr	NC_000009.11:g.130616633A>G	OMIM Allelic Variant:131195.0006	C0039445 187300 Osler hemorrhagic telangiectasia syndrome