Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: JVN012 MIFTS: 26	Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome Categories: Genetic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

MalaCards integrated aliases for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

Name: Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Polyposis, Generalized Juvenile, with Pulmonary Arteriovenous Malformation ⁵⁷

Telangiectasia, Hereditary Hemorrhagic, with Juvenile Polyposis Coli ⁵⁷

Polyposis, Juvenile/hereditary Hemorrhagic Telangiectasia Syndrome ⁴⁰

Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia ⁵⁷

Jp/hht Syndrome ⁵⁷

Jps/hht ⁵⁷

Jp/hht ⁷⁵

Jpht ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
onset usually in childhood
arteriovenous malformations can occur throughout the body

HPO:

³²

juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 175050

MedGen ⁴² C1832942

UMLS ⁷³ C1832942

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Summaries for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

UniProtKB/Swiss-Prot : ⁷⁵ Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: JP/HHT syndrome phenotype consists of the coexistence of juvenile polyposis (JIP) and hereditary hemorrhagic telangiectasia (HHT) [MIM:187300] in a single individual. JIP and HHT are autosomal dominant disorders with distinct and non-overlapping clinical features. The former, an inherited gastrointestinal malignancy predisposition, is caused by mutations in SMAD4 or BMPR1A, and the latter is a vascular malformation disorder caused by mutations in ENG or ACVRL1. All four genes encode proteins involved in the transforming-growth-factor-signaling pathway. Although there are reports of patients and families with phenotypes of both disorders combined, the genetic etiology of this association is unknown.

MalaCards based summary : Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome, also known as polyposis, generalized juvenile, with pulmonary arteriovenous malformation, is related to hereditary hemorrhagic telangiectasia and leukemia, acute lymphoblastic. An important gene associated with Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome is SMAD4 (SMAD Family Member 4). Affiliated tissues include skin, lung and liver, and related phenotypes are epistaxis and telangiectasia

OMIM : ⁵⁷ The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS; 174900) and hereditary hemorrhagic telangiectasia (HHT; 187300) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010). (175050)

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Related Diseases for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

Diseases related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	hereditary hemorrhagic telangiectasia	10.2
2	leukemia, acute lymphoblastic	10.1
3	alacrima, achalasia, and mental retardation syndrome	10.1
4	leukemia	10.1
5	lymphoblastic leukemia	10.1

Graphical network of the top 20 diseases related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

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Symptoms & Phenotypes for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

Symptoms via clinical synopsis from OMIM:

⁵⁷

Hematology:
anemia

Skin Nails Hair Skin:
telangiectasia

Skeletal Hands:
digital clubbing

Cardiovascular Vascular:
arteriovenous malformations
aortic dilatation (in some patients)
aortic dissection (rare)

Abdomen Gastrointestinal:
gastrointestinal hamartomatous polyps
recurrent rectal bleeding

Neoplasia:
increased risk of gastrointestinal cancer

Head And Neck Nose:
epistaxis

Neurologic Central Nervous System:
cerebral arteriovenous malformation

Cardiovascular Heart:
mitral valve prolapse (1 family)
mitral valve regurgitation (1 family)
redundant mitral valve leaflets (1 family)

Respiratory Lung:
pulmonary arteriovenous malformation

Skeletal:
hypertrophic osteoarthropathy

Clinical features from OMIM:

175050

Human phenotypes related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

³² (show all 15)

#	Description	HPO Frequency	HPO Source Accession
1	epistaxis ³²	very rare (1%)	HP:0000421
2	telangiectasia ³²	very rare (1%)	HP:0001009
3	clubbing ³²	very rare (1%)	HP:0001217
4	stroke ³²	very rare (1%)	HP:0001297
5	mitral valve prolapse ³²	occasional (7.5%)	HP:0001634
6	mitral regurgitation ³²	occasional (7.5%)	HP:0001653
7	anemia ³²		HP:0001903
8	cerebral arteriovenous malformation ³²	very rare (1%)	HP:0002408
9	hematochezia ³²		HP:0002573
10	gastrointestinal carcinoma ³²	very rare (1%)	HP:0002672
11	hamartomatous polyposis ³²		HP:0004390
12	juvenile gastrointestinal polyposis ³²	very rare (1%)	HP:0004784
13	aortic aneurysm ³²	occasional (7.5%)	HP:0004942
14	pulmonary arteriovenous malformation ³²	very rare (1%)	HP:0006548
15	hepatic arteriovenous malformation ³²	very rare (1%)	HP:0006574

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Drugs & Therapeutics for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

Search Clinical Trials , NIH Clinical Center for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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Genetic Tests for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

Genetic tests related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

#	Genetic test	Affiliating Genes
1	Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome ²⁹	SMAD4

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Anatomical Context for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

MalaCards organs/tissues related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

⁴¹

Skin, Lung, Liver, Brain

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Publications for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

Articles related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

#	Title	Authors	Year
1	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome in an adolescent with complex chromosomal rearrangement and intellectual disability. ( 25081192 )	Oliveira M.M....Melaragno M.I.	2014
2	Recurrent Gastrointestinal Hemorrhage in Treatment with Dasatinib in a Patient Showing SMAD4 Mutation with Acute Lymphoblastic Leukemia Philadelphia Positive and Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia Syndrome. ( 23888243 )	Sartor C....Martinelli G.	2013

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Genes for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

Genes related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SMAD4	SMAD Family Member 4	Protein Coding	1355.24	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	9582123 15754356 20301525 (more) 19553198 10751092 12116240 15031030 6604412 16613914 21465659 8898652 9285566 9811934

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Variations for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

UniProtKB/Swiss-Prot genetic disease variations for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	SMAD4	p.Gly352Arg	VAR_019571	rs121912581
2	SMAD4	p.Gly386Asp	VAR_019573	rs121912580

ClinVar genetic disease variations for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

⁶

(show all 50)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SMAD4	SMAD4, 1-BP INS	insertion	Pathogenic
2	SMAD4	NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys)	single nucleotide variant	Pathogenic	rs80338963	GRCh37	Chromosome 18, 48591918: 48591918
3	SMAD4	NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys)	single nucleotide variant	Pathogenic	rs80338963	GRCh38	Chromosome 18, 51065548: 51065548
4	SMAD4	NM_005359.5(SMAD4): c.1157G> A (p.Gly386Asp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121912580	GRCh37	Chromosome 18, 48593406: 48593406
5	SMAD4	NM_005359.5(SMAD4): c.1157G> A (p.Gly386Asp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121912580	GRCh38	Chromosome 18, 51067036: 51067036
6	SMAD4	SMAD4, 14-BP DEL, NT1612	deletion	Pathogenic
7	SMAD4	SMAD4, 2-BP DEL/1-BP INS, 1596CC/T	indel	Pathogenic
8	SMAD4	NM_005359.5(SMAD4): c.302G> A (p.Trp101Ter)	single nucleotide variant	Pathogenic	rs377767323	GRCh37	Chromosome 18, 48575108: 48575108
9	SMAD4	NM_005359.5(SMAD4): c.302G> A (p.Trp101Ter)	single nucleotide variant	Pathogenic	rs377767323	GRCh38	Chromosome 18, 51048738: 51048738
10	SMAD4	NM_005359.5(SMAD4): c.692dupG (p.Ser232Glnfs)	duplication	Pathogenic	rs377767334	GRCh37	Chromosome 18, 48584519: 48584519
11	SMAD4	NM_005359.5(SMAD4): c.692dupG (p.Ser232Glnfs)	duplication	Pathogenic	rs377767334	GRCh38	Chromosome 18, 51058149: 51058149
12	SMAD4	NM_005359.5(SMAD4): c.1054G> A (p.Gly352Arg)	single nucleotide variant	Pathogenic	rs121912581	GRCh37	Chromosome 18, 48591891: 48591891
13	SMAD4	NM_005359.5(SMAD4): c.1054G> A (p.Gly352Arg)	single nucleotide variant	Pathogenic	rs121912581	GRCh38	Chromosome 18, 51065521: 51065521
14	SMAD4	NM_005359.5(SMAD4): c.1055G> A (p.Gly352Glu)	single nucleotide variant	Pathogenic	rs377767345	GRCh37	Chromosome 18, 48591892: 48591892
15	SMAD4	NM_005359.5(SMAD4): c.1055G> A (p.Gly352Glu)	single nucleotide variant	Pathogenic	rs377767345	GRCh38	Chromosome 18, 51065522: 51065522
16	SMAD4	NM_005359.5(SMAD4): c.1082G> T (p.Arg361Leu)	single nucleotide variant	Pathogenic	rs377767347	GRCh37	Chromosome 18, 48591919: 48591919
17	SMAD4	NM_005359.5(SMAD4): c.1082G> T (p.Arg361Leu)	single nucleotide variant	Pathogenic	rs377767347	GRCh38	Chromosome 18, 51065549: 51065549
18	SMAD4	NM_005359.5(SMAD4): c.1088_1090delGTT (p.Cys363del)	deletion	Pathogenic	rs377767349	GRCh37	Chromosome 18, 48591925: 48591927
19	SMAD4	NM_005359.5(SMAD4): c.1088_1090delGTT (p.Cys363del)	deletion	Pathogenic	rs377767349	GRCh38	Chromosome 18, 51065555: 51065557
20	SMAD4	NM_005359.5(SMAD4): c.1102_1103delTC (p.Ser368Glnfs)	deletion	Pathogenic	rs377767351	GRCh37	Chromosome 18, 48591939: 48591940
21	SMAD4	NM_005359.5(SMAD4): c.1102_1103delTC (p.Ser368Glnfs)	deletion	Pathogenic	rs377767351	GRCh38	Chromosome 18, 51065569: 51065570
22	SMAD4	NM_005359.5(SMAD4): c.1148T> A (p.Ile383Lys)	single nucleotide variant	Pathogenic	rs377767355	GRCh37	Chromosome 18, 48593397: 48593397
23	SMAD4	NM_005359.5(SMAD4): c.1148T> A (p.Ile383Lys)	single nucleotide variant	Pathogenic	rs377767355	GRCh38	Chromosome 18, 51067027: 51067027
24	SMAD4	NM_005359.5(SMAD4): c.1333C> T (p.Arg445Ter)	single nucleotide variant	Pathogenic	rs377767360	GRCh37	Chromosome 18, 48603032: 48603032
25	SMAD4	NM_005359.5(SMAD4): c.1333C> T (p.Arg445Ter)	single nucleotide variant	Pathogenic	rs377767360	GRCh38	Chromosome 18, 51076662: 51076662
26	SMAD4	NM_005359.5(SMAD4): c.1586_1587dupTA (p.His530Tyrfs)	duplication	Pathogenic	rs377767376	GRCh37	Chromosome 18, 48604764: 48604765
27	SMAD4	NM_005359.5(SMAD4): c.1586_1587dupTA (p.His530Tyrfs)	duplication	Pathogenic	rs377767376	GRCh38	Chromosome 18, 51078394: 51078395
28	SMAD4	NM_005359.5(SMAD4): c.1594delG (p.Ala532Profs)	deletion	Pathogenic	rs377767378	GRCh37	Chromosome 18, 48604772: 48604772
29	SMAD4	NM_005359.5(SMAD4): c.1594delG (p.Ala532Profs)	deletion	Pathogenic	rs377767378	GRCh38	Chromosome 18, 51078402: 51078402
30	SMAD4	NM_005359.5(SMAD4): c.1596_1597delCCinsT (p.Leu533Serfs)	indel	Pathogenic	rs377767379	GRCh37	Chromosome 18, 48604774: 48604775
31	SMAD4	NM_005359.5(SMAD4): c.1596_1597delCCinsT (p.Leu533Serfs)	indel	Pathogenic	rs377767379	GRCh38	Chromosome 18, 51078404: 51078405
32	SMAD4	NM_005359.5(SMAD4): c.1596delC (p.Leu533Serfs)	deletion	Pathogenic	rs377767380	GRCh37	Chromosome 18, 48604774: 48604774
33	SMAD4	NM_005359.5(SMAD4): c.1596delC (p.Leu533Serfs)	deletion	Pathogenic	rs377767380	GRCh38	Chromosome 18, 51078404: 51078404
34	SMAD4	NM_005359.5(SMAD4): c.1598T> G (p.Leu533Arg)	single nucleotide variant	Pathogenic	rs377767382	GRCh37	Chromosome 18, 48604776: 48604776
35	SMAD4	NM_005359.5(SMAD4): c.1598T> G (p.Leu533Arg)	single nucleotide variant	Pathogenic	rs377767382	GRCh38	Chromosome 18, 51078406: 51078406
36	SMAD4	NM_005359.5(SMAD4): c.1600C> T (p.Gln534Ter)	single nucleotide variant	Pathogenic	rs377767383	GRCh37	Chromosome 18, 48604778: 48604778
37	SMAD4	NM_005359.5(SMAD4): c.1600C> T (p.Gln534Ter)	single nucleotide variant	Pathogenic	rs377767383	GRCh38	Chromosome 18, 51078408: 51078408
38	SMAD4	NM_005359.5(SMAD4): c.1598T> C (p.Leu533Pro)	single nucleotide variant	Pathogenic	rs377767382	GRCh37	Chromosome 18, 48604776: 48604776
39	SMAD4	NM_005359.5(SMAD4): c.1598T> C (p.Leu533Pro)	single nucleotide variant	Pathogenic	rs377767382	GRCh38	Chromosome 18, 51078406: 51078406
40	SMAD4	NM_005359.5(SMAD4): c.1612_1625delGAAGTACTTCATAC (p.Glu538Hisfs)	deletion	Pathogenic	rs377767385	GRCh37	Chromosome 18, 48604790: 48604803
41	SMAD4	NM_005359.5(SMAD4): c.1612_1625delGAAGTACTTCATAC (p.Glu538Hisfs)	deletion	Pathogenic	rs377767385	GRCh38	Chromosome 18, 51078420: 51078433
42	SMAD4	LRG_318t1: c.1228-1229delCA	deletion	Pathogenic		GRCh37	Chromosome 18, 48592248: 48592248
43	SMAD4	NM_005359.5(SMAD4): c.1447+1G> A	single nucleotide variant	Pathogenic	rs377767387	GRCh37	Chromosome 18, 48603147: 48603147
44	SMAD4	NM_005359.5(SMAD4): c.1447+1G> A	single nucleotide variant	Pathogenic	rs377767387	GRCh38	Chromosome 18, 51076777: 51076777
45	SMAD4	NM_005359.5(SMAD4): c.1245_1248delCAGA (p.Asp415Glufs)	deletion	Pathogenic	rs80338965	GRCh37	Chromosome 18, 48593494: 48593497
46	SMAD4	NM_005359.5(SMAD4): c.1245_1248delCAGA (p.Asp415Glufs)	deletion	Pathogenic	rs80338965	GRCh38	Chromosome 18, 51067124: 51067127
47	SMAD4	NM_005359.5(SMAD4): c.677C> T (p.Ala226Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs539739051	GRCh38	Chromosome 18, 51058134: 51058134
48	SMAD4	NM_005359.5(SMAD4): c.677C> T (p.Ala226Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs539739051	GRCh37	Chromosome 18, 48584504: 48584504
49	SMAD4	NM_005359.5(SMAD4): c.463A> G (p.Ser155Gly)	single nucleotide variant	Uncertain significance	rs1057519259	GRCh37	Chromosome 18, 48581159: 48581159
50	SMAD4	NM_005359.5(SMAD4): c.463A> G (p.Ser155Gly)	single nucleotide variant	Uncertain significance	rs1057519259	GRCh38	Chromosome 18, 51054789: 51054789

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Expression for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

Search GEO for disease gene expression data for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome.

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Pathways for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

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GO Terms for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

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