JPHT
MCID: JVN012
MIFTS: 52

Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome (JPHT)

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 56 73 29 13 6 71
Juvenile Polyposis-Hereditary Hemorrhagic Telangiectasia Syndrome 12 15
Polyposis, Generalized Juvenile, with Pulmonary Arteriovenous Malformation 56
Telangiectasia, Hereditary Hemorrhagic, with Juvenile Polyposis Coli 56
Polyposis, Juvenile/hereditary Hemorrhagic Telangiectasia Syndrome 39
Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia 56
Jp/hht Syndrome 56
Jps/hht 56
Jp-Hht 12
Jp/hht 73
Jpht 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

UniProtKB/Swiss-Prot : 73 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 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome, is related to hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome. An important gene associated with Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome is SMAD4 (SMAD Family Member 4), and among its related pathways/superpathways are ERK Signaling and PEDF Induced Signaling. Affiliated tissues include brain, liver and lung, and related phenotypes are mitral valve prolapse and mitral regurgitation

Disease Ontology : 12 A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has material basis in heterozygous mutation in SMAD4 on chromosome 18q21.2.

OMIM : 56 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:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 hereditary hemorrhagic telangiectasia 30.6 TGFBR2 TGFBR1 SMAD4 GDF2 ENG BMPR2
2 juvenile polyposis syndrome 29.8 SMAD4 BMPR2 BMPR1A ACVRL1
3 arteriovenous malformation 28.7 TGFBR2 TGFBR1 ENG BMPR2 ACVRL1
4 telangiectasis 27.3 TGFBR1 SMAD4 OR2AG1 GDF2 ENG BMPR2
5 juvenile arthritis 10.3
6 juvenile rheumatoid arthritis 10.3
7 systemic onset juvenile idiopathic arthritis 10.3
8 pulmonary arteriovenous malformation 10.3 ENG ACVRL1
9 leukemia, acute lymphoblastic 10.2
10 alacrima, achalasia, and mental retardation syndrome 10.2
11 thrombocytopenia 10.2
12 complex chromosomal rearrangement 10.2
13 familial colorectal cancer type x 10.2 SMAD4 BMPR1A
14 polyposis, skin pigmentation, alopecia, and fingernail changes 10.2 SMAD4 BMPR1A
15 weber syndrome 10.2 ENG ACVRL1
16 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.1 ENG ACVRL1
17 angiodysplasia 10.1 ENG ACVRL1
18 biliary tract cancer 10.1 TGFBR2 SMAD4
19 brachydactyly, type a1, b 10.0 BMPR1A ACVR1
20 pulmonary venoocclusive disease 9.8 GDF2 BMPR2 ACVRL1
21 persistent mullerian duct syndrome 9.8 BMPR1A ACVR1
22 cardiovascular organ benign neoplasm 9.8 SMAD4 GDF2 ENG ACVRL1
23 pulmonary hypertension, primary, 1 9.8 ENG BMPR2 ACVRL1
24 arteriovenous malformations of the brain 9.8 OR2AG1 GDF2 ENG ACVRL1
25 generalized juvenile polyposis/juvenile polyposis coli 9.7 SMAD4 ENG BMPR1A
26 transient hypogammaglobulinemia of infancy 9.7 TGFBR2 TGFBR1
27 transient hypogammaglobulinemia 9.7 TGFBR2 TGFBR1
28 tricuspid valve prolapse 9.7 TGFBR2 TGFBR1
29 pulmonary arterial hypertension associated with congenital heart disease 9.7 ENG BMPR2 BMPR1A
30 hereditary mixed polyposis syndrome 9.7 SMAD4 BMPR1A
31 chronic pulmonary heart disease 9.7 BMPR2 ACVRL1 ACVR1
32 loeys-dietz syndrome 5 9.7 TGFBR2 TGFBR1
33 multiple self-healing squamous epithelioma 9.7 TGFBR2 TGFBR1
34 pulsating exophthalmos 9.7 TGFBR2 TGFBR1
35 loeys-dietz syndrome 4 9.6 TGFBR2 TGFBR1
36 arterial tortuosity syndrome 9.6 TGFBR2 TGFBR1
37 heritable pulmonary arterial hypertension 9.6 GDF2 ENG BMPR2 ACVRL1
38 hepatopulmonary syndrome 9.6 GDF2 ENG BMPR2 ACVRL1
39 heritable thoracic aortic disease 9.6 TGFBR2 TGFBR1 SMAD4
40 aortic disease 9.6 TGFBR2 TGFBR1 SMAD4
41 loeys-dietz syndrome 3 9.6 TGFBR2 TGFBR1 SMAD4
42 loeys-dietz syndrome 9.6 TGFBR2 TGFBR1 SMAD4
43 aortic dissection 9.5 TGFBR2 TGFBR1 SMAD4
44 familial thoracic aortic aneurysm and aortic dissection 9.5 TGFBR2 TGFBR1 SMAD4
45 aortic aneurysm 9.5 TGFBR2 TGFBR1 SMAD4
46 aneurysm 9.5 TGFBR2 TGFBR1 SMAD4
47 aortic aneurysm, familial thoracic 1 9.5 TGFBR2 TGFBR1 SMAD4
48 aortic valve insufficiency 9.5 TGFBR2 TGFBR1
49 loeys-dietz syndrome 1 9.5 TGFBR2 TGFBR1
50 intracranial aneurysm 9.5 TGFBR2 TGFBR1 ENG

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...

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

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 mitral valve prolapse 31 occasional (7.5%) HP:0001634
2 mitral regurgitation 31 occasional (7.5%) HP:0001653
3 aortic aneurysm 31 occasional (7.5%) HP:0004942
4 aortic dissection 31 very rare (1%) HP:0002647
5 stroke 31 very rare (1%) HP:0001297
6 epistaxis 31 very rare (1%) HP:0000421
7 gastrointestinal carcinoma 31 very rare (1%) HP:0002672
8 telangiectasia 31 very rare (1%) HP:0001009
9 cerebral arteriovenous malformation 31 very rare (1%) HP:0002408
10 clubbing 31 very rare (1%) HP:0001217
11 pulmonary arteriovenous malformation 31 very rare (1%) HP:0006548
12 juvenile gastrointestinal polyposis 31 very rare (1%) HP:0004784
13 hepatic arteriovenous malformation 31 very rare (1%) HP:0006574
14 anemia 31 HP:0001903
15 hematochezia 31 HP:0002573
16 hamartomatous polyposis 31 HP:0004390

Symptoms via clinical synopsis from OMIM:

56
Hematology:
anemia

Skin Nails Hair Skin:
telangiectasia

Respiratory Lung:
pulmonary arteriovenous malformation

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

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

Skeletal Hands:
digital clubbing

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

Skeletal:
hypertrophic osteoarthropathy

Clinical features from OMIM:

175050

GenomeRNAi Phenotypes related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome according to GeneCards Suite gene sharing:

26 (show top 50) (show all 76)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.51 TGFBR2
2 Decreased viability GR00173-A 10.51 BMPR2
3 Decreased viability GR00221-A-1 10.51 ACVRL1 BMPR1A BMPR2 TGFBR2 TGFBR1
4 Decreased viability GR00221-A-2 10.51 ACVRL1 BMPR1A
5 Decreased viability GR00221-A-3 10.51 ACVRL1 BMPR1A BMPR2 TGFBR2
6 Decreased viability GR00221-A-4 10.51 ACVRL1 BMPR1A BMPR2 TGFBR2 TGFBR1 ACVR1
7 Decreased viability GR00249-S 10.51 BMPR1A BMPR2 TGFBR2 TGFBR1
8 Decreased viability GR00301-A 10.51 BMPR2
9 Decreased viability GR00402-S-2 10.51 TGFBR2 TGFBR1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.26 TGFBR2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 10.26 ACVR1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 10.26 TGFBR2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-123 10.26 TGFBR2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 10.26 ACVR1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 10.26 ACVRL1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.26 TGFBR2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 10.26 TGFBR2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.26 TGFBR2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-164 10.26 TGFBR2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.26 TGFBR1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.26 ACVRL1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.26 TGFBR1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.26 TGFBR2
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10.26 TGFBR2
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-36 10.26 TGFBR1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.26 TGFBR2
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.26 TGFBR2
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 10.26 TGFBR2
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.26 TGFBR2
30 Decreased substrate adherent cell growth GR00193-A-1 10.11 ACVR1 ACVRL1 BMPR2 TGFBR2
31 Decreased substrate adherent cell growth GR00193-A-2 10.11 BMPR1A
32 Decreased substrate adherent cell growth GR00193-A-3 10.11 ACVR1 BMPR1A
33 Decreased substrate adherent cell growth GR00193-A-4 10.11 ACVR1 ACVRL1 TGFBR2 BMPR1A
34 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.98 TGFBR1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.98 ACVRL1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.98 ACVR1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.98 ACVR1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.98 ACVRL1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.98 TGFBR1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.98 ACVRL1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.98 ACVRL1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-160 9.98 ACVR1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.98 BMPR1A
44 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.98 TGFBR1
45 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.98 BMPR2
46 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.98 BMPR1A
47 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.98 ACVRL1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.98 TGFBR1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-206 9.98 BMPR2
50 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.98 BMPR2

MGI Mouse Phenotypes related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.26 ACVR1 ACVRL1 BMP10 BMPR1A BMPR2 ENG
2 embryo MP:0005380 10.18 ACVR1 ACVRL1 BMP10 BMPR1A BMPR2 ENG
3 growth/size/body region MP:0005378 10.16 ACVR1 ACVRL1 BMP10 BMPR1A BMPR2 ENG
4 homeostasis/metabolism MP:0005376 10.13 ACVR1 ACVRL1 BMP10 BMPR1A BMPR2 ENG
5 hematopoietic system MP:0005397 10.1 ACVRL1 BMP10 BMPR1A BMPR2 ENG SMAD4
6 digestive/alimentary MP:0005381 10.08 ACVR1 ACVRL1 BMPR1A ENG SMAD4 TGFBR1
7 immune system MP:0005387 10.06 ACVR1 BMP10 BMPR1A BMPR2 GDF2 SMAD4
8 mortality/aging MP:0010768 10.06 ACVR1 ACVRL1 BMP10 BMPR1A BMPR2 ENG
9 craniofacial MP:0005382 10.02 ACVR1 ACVRL1 BMPR1A ENG SMAD4 TGFBR2
10 muscle MP:0005369 10.02 ACVR1 ACVRL1 BMP10 BMPR1A BMPR2 ENG
11 integument MP:0010771 9.98 BMP10 BMPR1A BMPR2 ENG SMAD4 TGFBR1
12 nervous system MP:0003631 9.86 ACVR1 ACVRL1 BMPR1A BMPR2 ENG SMAD4
13 normal MP:0002873 9.76 ACVRL1 BMP10 BMPR1A BMPR2 ENG SMAD4
14 neoplasm MP:0002006 9.72 ACVR1 BMPR1A SMAD4 TGFBR1 TGFBR2
15 respiratory system MP:0005388 9.43 ACVRL1 BMPR1A BMPR2 ENG TGFBR1 TGFBR2
16 skeleton MP:0005390 9.17 ACVR1 BMPR1A BMPR2 GDF2 SMAD4 TGFBR1

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:

40
Brain, Liver, Lung, Skin, Colon, Prostate

Publications for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

Articles related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

(show all 25)
# Title Authors PMID Year
1
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. 56 6
21465659 2011
2
SMAD4 mutations found in unselected HHT patients. 56 6
16613914 2006
3
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 6 56
15031030 2004
4
Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposis. 6 56
12116240 2002
5
Generalized juvenile polyposis with pulmonary arteriovenous malformations and hypertrophic osteoarthropathy. 6 56
6604412 1983
6
Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4. 56
25931195 2015
7
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. 6
19553198 2011
8
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 56
20101697 2010
9
Hypermanganesemia, hereditary hemorrhagic telangiectasia, brain abscess: the hepatic connection. 56
18824676 2008
10
Gastric juvenile polyposis associated with germline SMAD4 mutation. 6
15754356 2005
11
Hereditary Hemorrhagic Telangiectasia 6
20301525 2000
12
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). 6
10751092 2000
13
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 6
9811934 1998
14
Mutations in the SMAD4/DPC4 gene in juvenile polyposis. 6
9582123 1998
15
Comparative mutational analysis of DPC4 (Smad4) in prostatic and colorectal carcinomas. 6
9285566 1997
16
Somatic alterations of the DPC4 gene in human colorectal cancers in vivo. 6
8898652 1996
17
Colonic hamartomatous polyposis associated with hypertrophic osteoarthropathy. 56
8078721 1994
18
Association of juvenile and adenomatous polyposis with pulmonary arteriovenous malformation and hypertrophic osteoarthropathy. 56
2388124 1990
19
Association of hypertrophic osteoarthropathy with gastrointestinal polyposis. 56
3872584 1985
20
Hereditary generalized juvenile polyposis associated with pulmonary arteriovenous malformation. 56
7372073 1980
21
Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4. 61
26165824 2015
22
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome in an adolescent with complex chromosomal rearrangement and intellectual disability. 61
25081192 2014
23
Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review. 61
24525918 2014
24
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. 61
23888243 2013
25
SMAD4 haploinsufficiency associates with augmented colonic inflammation in select humans and mice. 61
23090737 2012

Variations for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

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

6 (show top 50) (show all 206) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMAD4 NM_005359.6(SMAD4):c.1308+2T>CSNV Pathogenic 548563 rs1555686624 18:48593559-48593559 18:51067189-51067189
2 SMAD4 NM_005359.6(SMAD4):c.692dup (p.Ser232fs)duplication Pathogenic 24811 rs377767334 18:48584513-48584514 18:51058143-51058144
3 SMAD4 NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)SNV Pathogenic 24827 rs121912581 18:48591891-48591891 18:51065521-51065521
4 SMAD4 NM_005359.6(SMAD4):c.1055G>A (p.Gly352Glu)SNV Pathogenic 24828 rs377767345 18:48591892-48591892 18:51065522-51065522
5 SMAD4 NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)SNV Pathogenic 24832 rs377767347 18:48591919-48591919 18:51065549-51065549
6 SMAD4 NM_005359.6(SMAD4):c.1082G>T (p.Arg361Leu)SNV Pathogenic 24833 rs377767347 18:48591919-48591919 18:51065549-51065549
7 SMAD4 NM_005359.6(SMAD4):c.1088_1090del (p.Cys363del)deletion Pathogenic 24835 rs377767349 18:48591923-48591925 18:51065553-51065555
8 SMAD4 NM_005359.5(SMAD4):c.1102_1103delTC (p.Ser368Glnfs)short repeat Pathogenic 24837 rs377767351 18:48591936-48591937 18:51065566-51065567
9 SMAD4 NM_005359.6(SMAD4):c.1148T>A (p.Ile383Lys)SNV Pathogenic 24840 rs377767355 18:48593397-48593397 18:51067027-51067027
10 SMAD4 NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter)SNV Pathogenic 24850 rs377767360 18:48603032-48603032 18:51076662-51076662
11 SMAD4 NM_005359.6(SMAD4):c.1586_1587dup (p.His530fs)duplication Pathogenic 24869 rs1555687599 18:48604763-48604764 18:51078393-51078394
12 SMAD4 NM_005359.6(SMAD4):c.1594del (p.Ala532fs)deletion Pathogenic 24870 rs377767378 18:48604770-48604770 18:51078400-51078400
13 SMAD4 NM_005359.6(SMAD4):c.1596_1597delinsT (p.Leu533fs)indel Pathogenic 24871 rs377767379 18:48604774-48604775 18:51078404-51078405
14 SMAD4 NM_005359.6(SMAD4):c.1597del (p.Leu533fs)deletion Pathogenic 24872 rs377767380 18:48604773-48604773 18:51078403-51078403
15 SMAD4 NM_005359.6(SMAD4):c.1598T>G (p.Leu533Arg)SNV Pathogenic 24874 rs377767382 18:48604776-48604776 18:51078406-51078406
16 SMAD4 NM_005359.6(SMAD4):c.1600C>T (p.Gln534Ter)SNV Pathogenic 24875 rs377767383 18:48604778-48604778 18:51078408-51078408
17 SMAD4 NM_005359.6(SMAD4):c.1598T>C (p.Leu533Pro)SNV Pathogenic 24876 rs377767382 18:48604776-48604776 18:51078406-51078406
18 SMAD4 NM_005359.6(SMAD4):c.1612_1625del (p.Glu538fs)deletion Pathogenic 24878 rs377767385 18:48604788-48604801 18:51078418-51078431
19 SMAD4 NM_005359.6(SMAD4):c.1139+274deldeletion Pathogenic 24879 rs483352871 18:48592247-48592247 18:51065877-51065877
20 SMAD4 NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)SNV Pathogenic 30150 rs281875322 18:48604676-48604676 18:51078306-51078306
21 SMAD4 NM_005359.6(SMAD4):c.1447+1G>ASNV Pathogenic 38740 rs377767387 18:48603147-48603147 18:51076777-51076777
22 SMAD4 SMAD4, 1-BP INSinsertion Pathogenic 8542
23 SMAD4 NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)SNV Pathogenic 8543 rs80338963 18:48591918-48591918 18:51065548-51065548
24 SMAD4 SMAD4, 14-BP DEL, NT1612deletion Pathogenic 8547
25 SMAD4 SMAD4, 2-BP DEL/1-BP INS, 1596CC/Tindel Pathogenic 8548
26 SMAD4 NM_005359.6(SMAD4):c.302G>A (p.Trp101Ter)SNV Pathogenic 24798 rs377767323 18:48575108-48575108 18:51048738-51048738
27 SMAD4 NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs)deletion Pathogenic 142253 rs80338965 18:48593491-48593494 18:51067121-51067124
28 SMAD4 NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp)SNV Pathogenic/Likely pathogenic 8545 rs121912580 18:48593406-48593406 18:51067036-51067036
29 SMAD4 NM_005359.6(SMAD4):c.298A>C (p.Arg100=)SNV Conflicting interpretations of pathogenicity 484792 rs751154230 18:48575104-48575104 18:51048734-51048734
30 SMAD4 NM_005359.6(SMAD4):c.789C>T (p.Asn263=)SNV Conflicting interpretations of pathogenicity 484804 rs763510526 18:48584711-48584711 18:51058341-51058341
31 SMAD4 NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)SNV Conflicting interpretations of pathogenicity 182869 rs539739051 18:48584504-48584504 18:51058134-51058134
32 SMAD4 NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)SNV Conflicting interpretations of pathogenicity 183733 rs372316981 18:48573436-48573436 18:51047066-51047066
33 SMAD4 NM_005359.6(SMAD4):c.21G>A (p.Thr7=)SNV Conflicting interpretations of pathogenicity 183887 rs142292491 18:48573437-48573437 18:51047067-51047067
34 SMAD4 NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)SNV Conflicting interpretations of pathogenicity 136074 rs199526820 18:48604831-48604831 18:51078461-51078461
35 SMAD4 NM_005359.6(SMAD4):c.342T>C (p.Tyr114=)SNV Conflicting interpretations of pathogenicity 240149 rs757211048 18:48575148-48575148 18:51048778-51048778
36 SMAD4 NM_005359.6(SMAD4):c.1644A>G (p.Pro548=)SNV Conflicting interpretations of pathogenicity 240146 rs756795016 18:48604822-48604822 18:51078452-51078452
37 SMAD4 NM_005359.6(SMAD4):c.667+3G>ASNV Conflicting interpretations of pathogenicity 327111 rs757971589 18:48581366-48581366 18:51054996-51054996
38 SMAD4 NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)SNV Conflicting interpretations of pathogenicity 41788 rs149755320 18:48604751-48604751 18:51078381-51078381
39 SMAD4 NM_005359.6(SMAD4):c.424+5G>ASNV Conflicting interpretations of pathogenicity 127950 rs200772603 18:48575235-48575235 18:51048865-51048865
40 SMAD4 NM_005359.6(SMAD4):c.1632G>A (p.Pro544=)SNV Conflicting interpretations of pathogenicity 413437 rs549489716 18:48604810-48604810 18:51078440-51078440
41 SMAD4 NM_005359.6(SMAD4):c.1545A>G (p.Arg515=)SNV Conflicting interpretations of pathogenicity 460541 rs760840557 18:48604723-48604723 18:51078353-51078353
42 SMAD4 NM_005359.6(SMAD4):c.-128+12A>GSNV Conflicting interpretations of pathogenicity 327107 rs886053891 18:48557005-48557005 18:51030635-51030635
43 SMAD4 NM_005359.6(SMAD4):c.249+10A>CSNV Conflicting interpretations of pathogenicity 327110 rs752243771 18:48573675-48573675 18:51047305-51047305
44 SMAD4 NM_005359.6(SMAD4):c.*30A>CSNV Conflicting interpretations of pathogenicity 327112 rs767288576 18:48604867-48604867 18:51078497-51078497
45 SMAD4 NM_005359.6(SMAD4):c.876G>A (p.Pro292=)SNV Conflicting interpretations of pathogenicity 378973 rs753358186 18:48584798-48584798 18:51058428-51058428
46 SMAD4 NM_005359.6(SMAD4):c.1492T>C (p.Leu498=)SNV Conflicting interpretations of pathogenicity 379190 rs1057520520 18:48604670-48604670 18:51078300-51078300
47 SMAD4 NM_005359.6(SMAD4):c.463A>G (p.Ser155Gly)SNV Uncertain significance 374977 rs1057519259 18:48581159-48581159 18:51054789-51054789
48 SMAD4 NM_005359.6(SMAD4):c.*5551A>GSNV Uncertain significance 327199 rs202140561 18:48610388-48610388 18:51084018-51084018
49 SMAD4 NM_005359.6(SMAD4):c.*4987T>CSNV Uncertain significance 327170 rs188228460 18:48609824-48609824 18:51083454-51083454
50 SMAD4 NM_005359.6(SMAD4):c.*5235C>GSNV Uncertain significance 327177 rs755051361 18:48610072-48610072 18:51083702-51083702

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

73
# Symbol AA change Variation ID SNP ID
1 SMAD4 p.Gly352Arg VAR_019571 rs121912581
2 SMAD4 p.Gly386Asp VAR_019573 rs121912580

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...

Pathways related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome according to GeneCards Suite gene sharing:

(show all 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 TGFBR2 TGFBR1 SMAD4 GDF2 BMPR2 BMPR1A
2
Show member pathways
13.53 TGFBR2 TGFBR1 SMAD4 GDF2 BMPR2 BMPR1A
3
Show member pathways
13.29 TGFBR1 GDF2 BMPR2 BMPR1A BMP10 ACVRL1
4
Show member pathways
12.98 TGFBR2 TGFBR1 SMAD4 GDF2 BMPR2 BMPR1A
5
Show member pathways
12.58 SMAD4 BMPR2 BMPR1A ACVRL1 ACVR1
6
Show member pathways
12.43 SMAD4 BMPR2 BMPR1A ACVR1
7
Show member pathways
12.35 TGFBR2 TGFBR1 BMPR1A ACVR1
8 12.21 TGFBR2 TGFBR1 SMAD4
9
Show member pathways
12.17 TGFBR2 TGFBR1 SMAD4
10 12.17 TGFBR1 SMAD4 ENG BMPR2 ACVR1
11
Show member pathways
12.14 TGFBR2 TGFBR1 SMAD4 BMPR2 BMPR1A BMP10
12
Show member pathways
12.11 TGFBR2 TGFBR1 BMPR1A ACVR1
13
Show member pathways
12.1 TGFBR2 TGFBR1 SMAD4
14 12.09 TGFBR2 TGFBR1 SMAD4 BMPR2 BMPR1A
15 12.07 TGFBR2 TGFBR1 SMAD4
16 12.06 TGFBR2 TGFBR1 SMAD4 BMPR2 BMPR1A
17 12.04 SMAD4 BMPR2 BMPR1A ACVR1
18 11.99 BMPR2 BMPR1A ACVR1
19
Show member pathways
11.98 TGFBR2 TGFBR1 SMAD4
20 11.97 TGFBR2 TGFBR1 SMAD4
21 11.83 TGFBR2 TGFBR1 SMAD4
22 11.81 TGFBR2 TGFBR1 SMAD4 ENG ACVRL1
23
Show member pathways
11.8 TGFBR2 TGFBR1 SMAD4
24
Show member pathways
11.79 TGFBR2 TGFBR1 SMAD4
25
Show member pathways
11.68 SMAD4 BMPR2 BMPR1A
26 11.67 TGFBR2 TGFBR1 SMAD4
27 11.66 TGFBR2 TGFBR1 SMAD4
28
Show member pathways
11.64 TGFBR2 TGFBR1 SMAD4
29 11.64 TGFBR2 TGFBR1 SMAD4 BMP10
30
Show member pathways
11.61 TGFBR2 TGFBR1 SMAD4 BMPR2 BMPR1A
31 11.59 TGFBR2 TGFBR1 SMAD4 ENG
32
Show member pathways
11.53 TGFBR2 TGFBR1 SMAD4
33 11.5 TGFBR2 TGFBR1 SMAD4
34 11.42 SMAD4 BMPR2 BMPR1A BMP10
35 11.41 TGFBR2 TGFBR1 SMAD4 BMPR2 BMPR1A ACVR1
36 11.23 TGFBR2 TGFBR1 SMAD4
37 11.1 TGFBR2 TGFBR1
38 11.1 TGFBR2 TGFBR1 SMAD4 ENG
39 11.07 TGFBR2 TGFBR1 SMAD4
40 11.01 SMAD4 BMPR2 BMPR1A BMP10
41 10.9 TGFBR2 TGFBR1
42 10.77 SMAD4 BMPR2 ACVR1
43
Show member pathways
10.6 TGFBR2 TGFBR1 SMAD4 GDF2 BMPR2 ACVRL1

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

Cellular components related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 caveola GO:0005901 9.5 TGFBR2 BMPR2 BMPR1A
2 cell surface GO:0009986 9.5 TGFBR2 TGFBR1 ENG BMPR2 BMPR1A BMP10
3 activin receptor complex GO:0048179 9.26 TGFBR1 ACVR1
4 receptor complex GO:0043235 9.17 TGFBR2 TGFBR1 ENG BMPR2 BMPR1A ACVRL1
5 BMP receptor complex GO:0070724 9.16 ACVRL1 ACVR1

Biological processes related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.19 SMAD4 GDF2 ENG BMPR2 BMPR1A ACVRL1
2 phosphorylation GO:0016310 10.14 TGFBR2 TGFBR1 BMPR2 BMPR1A ACVRL1 ACVR1
3 positive regulation of transcription, DNA-templated GO:0045893 10.13 TGFBR1 SMAD4 GDF2 BMPR1A BMP10 ACVRL1
4 protein phosphorylation GO:0006468 10.12 TGFBR2 TGFBR1 BMPR2 BMPR1A ACVRL1 ACVR1
5 positive regulation of gene expression GO:0010628 10.05 TGFBR1 GDF2 ENG BMP10
6 heart development GO:0007507 10.05 TGFBR2 TGFBR1 ENG BMPR1A BMP10 ACVRL1
7 angiogenesis GO:0001525 10.03 TGFBR1 GDF2 ENG ACVRL1 ACVR1
8 in utero embryonic development GO:0001701 10.02 TGFBR2 TGFBR1 SMAD4 BMPR1A ACVRL1 ACVR1
9 positive regulation of angiogenesis GO:0045766 9.97 TGFBR2 GDF2 ENG ACVRL1
10 negative regulation of cell growth GO:0030308 9.97 SMAD4 GDF2 BMPR2 BMP10 ACVRL1
11 anterior/posterior pattern specification GO:0009952 9.96 TGFBR1 SMAD4 BMPR2 BMPR1A
12 regulation of cell proliferation GO:0042127 9.94 TGFBR2 SMAD4 BMPR2
13 cellular response to growth factor stimulus GO:0071363 9.93 TGFBR2 TGFBR1 BMPR2 BMPR1A ACVRL1 ACVR1
14 response to hypoxia GO:0001666 9.92 TGFBR2 SMAD4 ACVRL1
15 negative regulation of cell migration GO:0030336 9.92 ENG BMP10 ACVRL1
16 ventricular septum morphogenesis GO:0060412 9.92 TGFBR2 TGFBR1 SMAD4 BMPR2 ACVR1
17 positive regulation of endothelial cell proliferation GO:0001938 9.91 TGFBR1 GDF2 BMPR2 ACVRL1
18 cartilage development GO:0051216 9.89 TGFBR2 GDF2 BMPR1A
19 positive regulation of BMP signaling pathway GO:0030513 9.89 SMAD4 GDF2 ENG BMPR2 ACVRL1
20 peptidyl-threonine phosphorylation GO:0018107 9.88 TGFBR2 TGFBR1 ACVR1
21 vasculogenesis GO:0001570 9.88 TGFBR2 GDF2 ENG
22 positive regulation of osteoblast differentiation GO:0045669 9.88 BMPR2 BMPR1A ACVR1
23 cellular response to BMP stimulus GO:0071773 9.88 SMAD4 GDF2 BMPR2 BMPR1A ACVRL1 ACVR1
24 SMAD protein signal transduction GO:0060395 9.87 SMAD4 GDF2 BMP10
25 outflow tract morphogenesis GO:0003151 9.87 TGFBR2 BMPR2 BMPR1A
26 branching involved in blood vessel morphogenesis GO:0001569 9.87 TGFBR2 GDF2 ENG ACVR1
27 positive regulation of epithelial to mesenchymal transition GO:0010718 9.86 TGFBR2 TGFBR1 SMAD4
28 dorsal/ventral pattern formation GO:0009953 9.86 BMPR1A ACVRL1 ACVR1
29 negative regulation of endothelial cell proliferation GO:0001937 9.85 TGFBR1 GDF2 ACVRL1
30 positive regulation of bone mineralization GO:0030501 9.85 BMPR2 BMPR1A ACVR1
31 mesoderm formation GO:0001707 9.85 BMPR2 BMPR1A ACVR1
32 gastrulation GO:0007369 9.85 TGFBR2 SMAD4 ACVR1
33 outflow tract septum morphogenesis GO:0003148 9.85 TGFBR2 SMAD4 ENG BMPR2 BMPR1A ACVR1
34 endocardial cushion morphogenesis GO:0003203 9.84 ENG BMPR1A ACVRL1 ACVR1
35 negative regulation of endothelial cell migration GO:0010596 9.83 GDF2 BMP10 ACVRL1
36 pathway-restricted SMAD protein phosphorylation GO:0060389 9.83 TGFBR2 TGFBR1 GDF2 BMP10 ACVR1
37 positive regulation of cartilage development GO:0061036 9.81 GDF2 BMPR2 BMP10
38 ventricular trabecula myocardium morphogenesis GO:0003222 9.8 TGFBR1 ENG BMPR1A
39 positive regulation of SMAD protein signal transduction GO:0060391 9.8 TGFBR1 SMAD4 BMPR1A
40 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.8 TGFBR2 TGFBR1 BMPR2 BMPR1A ACVRL1 ACVR1
41 activin receptor signaling pathway GO:0032924 9.8 TGFBR2 TGFBR1 GDF2 BMPR2 BMP10 ACVRL1
42 negative regulation of DNA biosynthetic process GO:2000279 9.79 GDF2 BMPR2 ACVRL1
43 atrioventricular valve morphogenesis GO:0003181 9.79 TGFBR2 BMPR2 ACVR1
44 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.78 TGFBR2 TGFBR1 ENG ACVR1
45 dorsal aorta morphogenesis GO:0035912 9.77 ENG BMPR1A ACVRL1
46 mitral valve morphogenesis GO:0003183 9.77 BMPR2 BMPR1A ACVR1
47 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.76 TGFBR1 ACVR1
48 positive regulation of epithelial cell migration GO:0010634 9.76 TGFBR2 BMPR2
49 mesoderm development GO:0007498 9.76 SMAD4 ACVR1
50 embryonic cranial skeleton morphogenesis GO:0048701 9.76 TGFBR2 TGFBR1

Molecular functions related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.35 TGFBR2 TGFBR1 SMAD4 OR2AG1 GDF2 ENG
2 transferase activity GO:0016740 10.06 TGFBR2 TGFBR1 BMPR2 BMPR1A ACVRL1 ACVR1
3 nucleotide binding GO:0000166 10.05 TGFBR2 TGFBR1 BMPR2 BMPR1A ACVRL1 ACVR1
4 ATP binding GO:0005524 10.03 TGFBR2 TGFBR1 BMPR2 BMPR1A ACVRL1 ACVR1
5 kinase activity GO:0016301 9.97 TGFBR2 TGFBR1 BMPR2 BMPR1A ACVRL1 ACVR1
6 protein kinase activity GO:0004672 9.95 TGFBR2 TGFBR1 BMPR2 BMPR1A ACVRL1 ACVR1
7 protein serine/threonine kinase activity GO:0004674 9.93 TGFBR2 TGFBR1 BMPR2 BMPR1A ACVRL1 ACVR1
8 SMAD binding GO:0046332 9.77 TGFBR2 TGFBR1 BMPR1A ACVRL1 ACVR1
9 growth factor binding GO:0019838 9.69 TGFBR1 BMPR2 ACVR1
10 transforming growth factor beta binding GO:0050431 9.65 TGFBR2 TGFBR1 ENG ACVRL1 ACVR1
11 transforming growth factor beta receptor activity, type I GO:0005025 9.62 TGFBR1 BMPR1A ACVRL1 ACVR1
12 BMP receptor activity GO:0098821 9.61 BMPR2 BMPR1A ACVRL1
13 protein tyrosine kinase binding GO:1990782 9.6 BMPR2 ACVR1
14 glycosaminoglycan binding GO:0005539 9.59 TGFBR2 ENG
15 activin receptor activity, type I GO:0016361 9.58 TGFBR1 ACVRL1 ACVR1
16 BMP binding GO:0036122 9.57 ENG BMPR2
17 I-SMAD binding GO:0070411 9.55 TGFBR1 SMAD4
18 activin binding GO:0048185 9.55 TGFBR2 TGFBR1 ENG ACVRL1 ACVR1
19 type I transforming growth factor beta receptor binding GO:0034713 9.54 TGFBR2 ENG
20 type II transforming growth factor beta receptor binding GO:0005114 9.52 TGFBR1 ENG
21 transforming growth factor beta-activated receptor activity GO:0005024 9.35 TGFBR2 TGFBR1 ENG BMPR2 ACVRL1
22 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.1 TGFBR2 TGFBR1 BMPR2 BMPR1A ACVRL1 ACVR1

Sources for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia...

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