MCID: JVN012
MIFTS: 26

Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

Categories: Genetic diseases

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:



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)

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 Top Affiliating Genes
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:



Diseases related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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

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

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

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

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

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

41
Skin, Lung, Liver, Brain

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 )
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 )
2013

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

Expression for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

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

Pathways for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

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

Sources for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

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