JP/HHT
MCID: JVN012
MIFTS: 26

Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome (JP/HHT) malady

Categories: Genetic diseases

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

Aliases & Descriptions for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

Name: Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome 54 24 66 29 13 69
Jp/hht Syndrome 24
Jp/hht 66
Jpht 24

Characteristics:

HPO:

32
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 175050
MedGen 40 C1832942

Summaries for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

UniProtKB/Swiss-Prot : 66 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 jp/hht syndrome, is related to hereditary hemorrhagic telangiectasia and leukemia, and has symptoms including clubbing, anemia and aortic dilatation. An important gene associated with Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome is SMAD4 (SMAD Family Member 4). Affiliated tissues include lung, skin and liver.

OMIM : 54 The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS; 174900) and hereditary... (175050) more...

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:

id Related Disease Score Top Affiliating Genes
1 hereditary hemorrhagic telangiectasia 10.2
2 leukemia 10.0
3 lymphoblastic leukemia 10.0
4 intellectual disability 10.0

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

Symptoms by clinical synopsis from OMIM:

175050

Clinical features from OMIM:

175050

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

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 clubbing 32 HP:0001217
2 anemia 32 HP:0001903
3 aortic dilatation 32 HP:0001724
4 mitral regurgitation 32 HP:0001653
5 mitral valve prolapse 32 HP:0001634
6 epistaxis 32 HP:0000421
7 hematochezia 32 HP:0002573
8 stroke 32 HP:0001297
9 gastrointestinal carcinoma 32 HP:0002672
10 hamartomatous polyposis 32 HP:0004390
11 telangiectasia 32 HP:0001009
12 cerebral arteriovenous malformation 32 HP:0002408
13 juvenile gastrointestinal polyposis 32 HP:0004784
14 pulmonary arteriovenous malformation 32 HP:0006548
15 hepatic arteriovenous malformation 32 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:

id Genetic test Affiliating Genes
1 Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome 29 24 SMAD4

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

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

39
Lung, Skin, Liver, Brain

Publications for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

Articles related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

id 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:

66
id Symbol AA change Variation ID SNP ID
1 SMAD4 p.Gly352Arg VAR_019571 rs121912581
2 SMAD4 p.Gly386Asp VAR_019573 rs28936393

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

6 (show all 25)
id 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/Likely pathogenic rs80338963 GRCh37 Chromosome 18, 48591918: 48591918
3 SMAD4 NM_005359.5(SMAD4): c.1157G> A (p.Gly386Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121912580 GRCh37 Chromosome 18, 48593406: 48593406
4 SMAD4 SMAD4, 14-BP DEL, NT1612 deletion Pathogenic
5 SMAD4 SMAD4, 2-BP DEL/1-BP INS, 1596CC/T indel Pathogenic
6 SMAD4 NM_005359.5(SMAD4): c.302G> A (p.Trp101Ter) single nucleotide variant Pathogenic rs377767323 GRCh37 Chromosome 18, 48575108: 48575108
7 SMAD4 NM_005359.5(SMAD4): c.692dupG (p.Ser232Glnfs) duplication Pathogenic rs377767334 GRCh37 Chromosome 18, 48584519: 48584519
8 SMAD4 NM_005359.5(SMAD4): c.1054G> A (p.Gly352Arg) single nucleotide variant Pathogenic rs121912581 GRCh37 Chromosome 18, 48591891: 48591891
9 SMAD4 NM_005359.5(SMAD4): c.1055G> A (p.Gly352Glu) single nucleotide variant Pathogenic rs377767345 GRCh37 Chromosome 18, 48591892: 48591892
10 SMAD4 NM_005359.5(SMAD4): c.1082G> T (p.Arg361Leu) single nucleotide variant Pathogenic rs377767347 GRCh37 Chromosome 18, 48591919: 48591919
11 SMAD4 NM_005359.5(SMAD4): c.1088_1090delGTT (p.Cys363del) deletion Pathogenic rs377767349 GRCh37 Chromosome 18, 48591925: 48591927
12 SMAD4 NM_005359.5(SMAD4): c.1102_1103delTC (p.Ser368Glnfs) deletion Pathogenic rs377767351 GRCh37 Chromosome 18, 48591939: 48591940
13 SMAD4 NM_005359.5(SMAD4): c.1148T> A (p.Ile383Lys) single nucleotide variant Pathogenic rs377767355 GRCh37 Chromosome 18, 48593397: 48593397
14 SMAD4 NM_005359.5(SMAD4): c.1333C> T (p.Arg445Ter) single nucleotide variant Pathogenic rs377767360 GRCh37 Chromosome 18, 48603032: 48603032
15 SMAD4 NM_005359.5(SMAD4): c.1586_1587dupTA (p.His530Tyrfs) duplication Pathogenic rs377767376 GRCh37 Chromosome 18, 48604764: 48604765
16 SMAD4 NM_005359.5(SMAD4): c.1594delG (p.Ala532Profs) deletion Pathogenic rs377767378 GRCh37 Chromosome 18, 48604772: 48604772
17 SMAD4 NM_005359.5(SMAD4): c.1596_1597delCCinsT (p.Leu533Serfs) indel Pathogenic rs377767379 GRCh37 Chromosome 18, 48604774: 48604775
18 SMAD4 NM_005359.5(SMAD4): c.1596delC (p.Leu533Serfs) deletion Pathogenic rs377767380 GRCh37 Chromosome 18, 48604774: 48604774
19 SMAD4 NM_005359.5(SMAD4): c.1598T> G (p.Leu533Arg) single nucleotide variant Pathogenic rs377767382 GRCh37 Chromosome 18, 48604776: 48604776
20 SMAD4 NM_005359.5(SMAD4): c.1600C> T (p.Gln534Ter) single nucleotide variant Pathogenic rs377767383 GRCh37 Chromosome 18, 48604778: 48604778
21 SMAD4 NM_005359.5(SMAD4): c.1598T> C (p.Leu533Pro) single nucleotide variant Pathogenic rs377767382 GRCh37 Chromosome 18, 48604776: 48604776
22 SMAD4 NM_005359.5(SMAD4): c.1612_1625delGAAGTACTTCATAC (p.Glu538Hisfs) deletion Pathogenic rs377767385 GRCh37 Chromosome 18, 48604790: 48604803
23 SMAD4 LRG_318t1: c.1228-1229delCA deletion Pathogenic GRCh37 Chromosome 18, 48592248: 48592248
24 SMAD4 NM_005359.5(SMAD4): c.1447+1G> A single nucleotide variant Pathogenic rs377767387 GRCh37 Chromosome 18, 48603147: 48603147
25 SMAD4 NM_005359.5(SMAD4): c.1245_1248delCAGA (p.Asp415Glufs) deletion Pathogenic rs80338965 GRCh38 Chromosome 18, 51067124: 51067127

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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