MCID: JVN034
MIFTS: 31

Juvenile Polyposis of Infancy

Categories: Blood diseases, Cancer diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Juvenile Polyposis of Infancy

MalaCards integrated aliases for Juvenile Polyposis of Infancy:

Name: Juvenile Polyposis of Infancy 58 29 6
Infantile Juvenile Polyposis Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
juvenile polyposis of infancy
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Developmental anomalies during embryogenesis


Summaries for Juvenile Polyposis of Infancy

MalaCards based summary : Juvenile Polyposis of Infancy, also known as infantile juvenile polyposis syndrome, is related to juvenile polyposis syndrome and cowden syndrome 1. An important gene associated with Juvenile Polyposis of Infancy is BMPR1A (Bone Morphogenetic Protein Receptor Type 1A), and among its related pathways/superpathways is Integrated Breast Cancer Pathway. Affiliated tissues include colon and heart, and related phenotypes are adenomatous colonic polyposis and hypertelorism

Related Diseases for Juvenile Polyposis of Infancy

Diseases in the Juvenile Polyposis Syndrome family:

Juvenile Polyposis of Infancy

Diseases related to Juvenile Polyposis of Infancy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 juvenile polyposis syndrome 32.1 PTEN BMPR1A
2 cowden syndrome 1 29.2 PTEN BMPR1A
3 chromosome 10q22.3-q23.2 deletion syndrome 10.1
4 protein-losing enteropathy 10.1
5 intussusception 9.9
6 pelvic organ prolapse 9.9
7 diarrhea 9.9
8 refractory anemia 9.9
9 polyposis, skin pigmentation, alopecia, and fingernail changes 9.6 PTEN BMPR1A
10 chromosome 10q23 deletion syndrome 9.6 PTEN BMPR1A
11 penile disease 9.6 PTEN BMPR1A
12 hereditary mixed polyposis syndrome 9.6 PTEN BMPR1A
13 hereditary breast ovarian cancer syndrome 9.5 PTEN BMPR1A
14 cowden syndrome 9.5 PTEN BMPR1A
15 lynch syndrome 9.4 PTEN BMPR1A
16 gastric adenocarcinoma 9.2 PTEN BMPR1A

Graphical network of the top 20 diseases related to Juvenile Polyposis of Infancy:



Diseases related to Juvenile Polyposis of Infancy

Symptoms & Phenotypes for Juvenile Polyposis of Infancy

Human phenotypes related to Juvenile Polyposis of Infancy:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adenomatous colonic polyposis 58 31 obligate (100%) Obligate (100%) HP:0005227
2 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
3 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
4 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
5 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
6 cachexia 58 31 frequent (33%) Frequent (79-30%) HP:0004326
7 large forehead 58 31 frequent (33%) Frequent (79-30%) HP:0002003
8 hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0001028
9 hematochezia 58 31 frequent (33%) Frequent (79-30%) HP:0002573
10 hamartomatous polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0004390
11 hypoalbuminemia 58 31 frequent (33%) Frequent (79-30%) HP:0003073
12 refractory anemia 58 31 frequent (33%) Frequent (79-30%) HP:0005505
13 protein-losing enteropathy 58 31 frequent (33%) Frequent (79-30%) HP:0002243
14 melena 58 31 frequent (33%) Frequent (79-30%) HP:0002249
15 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
16 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
17 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
18 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
19 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
20 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
21 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
22 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
23 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
24 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
25 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
26 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
27 rectal prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0002035
28 intestinal bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0002584
29 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
30 short chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000331
31 clubbing of fingers 58 31 occasional (7.5%) Occasional (29-5%) HP:0100759
32 hemangioblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0010797
33 intussusception 58 31 occasional (7.5%) Occasional (29-5%) HP:0002576
34 broad phalanx of the toes 58 31 occasional (7.5%) Occasional (29-5%) HP:0010174
35 midclavicular hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006608
36 freckled genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0030257
37 subcutaneous lipoma 58 31 very rare (1%) Very rare (<4-1%) HP:0001031
38 intellectual disability 58 Frequent (79-30%)
39 anemia 58 Very frequent (99-80%)
40 gastrointestinal hemorrhage 58 Very frequent (99-80%)
41 abnormal bleeding 58 Frequent (79-30%)
42 abnormal heart morphology 58 Occasional (29-5%)
43 diarrhea 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Juvenile Polyposis of Infancy according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.53 PTEN
2 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.53 PTEN
3 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.53 BMPR1A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.53 PTEN
5 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.53 BMPR1A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.53 BMPR1A PTEN
7 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.53 BMPR1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.53 PTEN
9 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.53 PTEN
10 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.53 PTEN
11 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.53 BMPR1A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.53 BMPR1A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.53 BMPR1A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.53 PTEN
15 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.53 PTEN
16 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 8.96 BMPR1A PTEN

MGI Mouse Phenotypes related to Juvenile Polyposis of Infancy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 BMPR1A PTEN

Drugs & Therapeutics for Juvenile Polyposis of Infancy

Search Clinical Trials , NIH Clinical Center for Juvenile Polyposis of Infancy

Genetic Tests for Juvenile Polyposis of Infancy

Genetic tests related to Juvenile Polyposis of Infancy:

# Genetic test Affiliating Genes
1 Juvenile Polyposis of Infancy 29

Anatomical Context for Juvenile Polyposis of Infancy

MalaCards organs/tissues related to Juvenile Polyposis of Infancy:

40
Colon, Heart

Publications for Juvenile Polyposis of Infancy

Articles related to Juvenile Polyposis of Infancy:

(show all 12)
# Title Authors PMID Year
1
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. 61 6
16685657 2006
2
Successful Treatment of Juvenile Polyposis of Infancy With Sirolimus. 61
31366686 2019
3
Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum. 61
31046523 2019
4
Multiorgan Transplantation as a Viable Treatment Option in Infantile Juvenile Polyposis Syndrome. 61
30134330 2019
5
Sustainable Positive Response to Sirolimus in Juvenile Polyposis of Infancy. 61
30334931 2019
6
Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach. 61
23331837 2013
7
Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23. 61
21834858 2012
8
Juvenile polyposis of infancy associated with paracentric inversion and deletion of chromosome 10 in a Hispanic patient: a case report. 61
20334546 2010
9
[Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes]. 61
17101085 2006
10
Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy. 61
16909400 2006
11
Juvenile polyposis. 61
7881943 1995
12
Bannayan-Riley-Ruvalcaba syndrome. 61
1336932 1992

Variations for Juvenile Polyposis of Infancy

ClinVar genetic disease variations for Juvenile Polyposis of Infancy:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMPR1A BMPR1A, DELdeletion Pathogenic 8238

Expression for Juvenile Polyposis of Infancy

Search GEO for disease gene expression data for Juvenile Polyposis of Infancy.

Pathways for Juvenile Polyposis of Infancy

Pathways related to Juvenile Polyposis of Infancy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.81 PTEN BMPR1A

GO Terms for Juvenile Polyposis of Infancy

Biological processes related to Juvenile Polyposis of Infancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 8.96 PTEN BMPR1A
2 heart development GO:0007507 8.62 PTEN BMPR1A

Sources for Juvenile Polyposis of Infancy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....