MCID: JVN034
MIFTS: 27

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 60 30 6
Infantile Juvenile Polyposis Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
juvenile polyposis of infancy
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:



External Ids:

ICD10 via Orphanet 35 D12.6
Orphanet 60 ORPHA79076

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 chromosome 10q23 deletion syndrome. 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, heart and skin, and related phenotypes are macrocephaly 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:

# Related Disease Score Top Affiliating Genes
1 juvenile polyposis syndrome 29.4 BMPR1A PTEN
2 chromosome 10q23 deletion syndrome 9.7 BMPR1A PTEN
3 polyposis, skin pigmentation, alopecia, and fingernail changes 9.7 BMPR1A PTEN
4 cowden syndrome 1 9.7 BMPR1A PTEN
5 large intestine cancer 9.5 BMPR1A PTEN

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:

60 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 Frequent (79-30%)
2 hypertelorism 60 Frequent (79-30%)
3 low-set ears 60 Occasional (29-5%)
4 frontal bossing 60 Occasional (29-5%)
5 intellectual disability 60 Frequent (79-30%)
6 depressed nasal bridge 60 Occasional (29-5%)
7 abnormal facial shape 60 Frequent (79-30%)
8 short stature 60 Occasional (29-5%)
9 broad thumb 60 Occasional (29-5%)
10 intellectual disability, mild 60 Occasional (29-5%)
11 anemia 60 Very frequent (99-80%)
12 abnormal bleeding 60 Frequent (79-30%)
13 abdominal pain 60 Frequent (79-30%)
14 patent ductus arteriosus 60 Occasional (29-5%)
15 high, narrow palate 60 Occasional (29-5%)
16 atrial septal defect 60 Occasional (29-5%)
17 cachexia 60 Frequent (79-30%)
18 motor delay 60 Occasional (29-5%)
19 downslanted palpebral fissures 60 Occasional (29-5%)
20 adenomatous colonic polyposis 60 Obligate (100%)
21 narrow mouth 60 Occasional (29-5%)
22 gastrointestinal hemorrhage 60 Very frequent (99-80%)
23 subcutaneous lipoma 60 Very rare (<4-1%)
24 diarrhea 60 Very frequent (99-80%)
25 large forehead 60 Frequent (79-30%)
26 hematochezia 60 Frequent (79-30%)
27 rectal prolapse 60 Occasional (29-5%)
28 hamartomatous polyposis 60 Frequent (79-30%)
29 generalized hypotonia 60 Occasional (29-5%)
30 intestinal bleeding 60 Occasional (29-5%)
31 hemangioma 60 Frequent (79-30%)
32 hypoalbuminemia 60 Frequent (79-30%)
33 intussusception 60 Occasional (29-5%)
34 protein-losing enteropathy 60 Frequent (79-30%)
35 hemangioblastoma 60 Occasional (29-5%)
36 short chin 60 Occasional (29-5%)
37 clubbing of fingers 60 Occasional (29-5%)
38 abnormal heart morphology 60 Occasional (29-5%)
39 refractory anemia 60 Frequent (79-30%)
40 melena 60 Frequent (79-30%)
41 midclavicular hypoplasia 60 Occasional (29-5%)
42 freckled genitalia 60 Occasional (29-5%)
43 broad phalanx of the toes 60 Occasional (29-5%)

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

27 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.5 PTEN
2 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.5 PTEN
3 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.5 PTEN
4 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.5 BMPR1A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.5 PTEN
6 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.5 BMPR1A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.5 BMPR1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 BMPR1A PTEN
9 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.5 PTEN
10 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.5 PTEN
11 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.5 BMPR1A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.5 BMPR1A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.5 BMPR1A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.5 PTEN
15 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.16 BMPR1A 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:

47
# 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 30

Anatomical Context for Juvenile Polyposis of Infancy

MalaCards organs/tissues related to Juvenile Polyposis of Infancy:

42
Colon, Heart, Skin

Publications for Juvenile Polyposis of Infancy

Articles related to Juvenile Polyposis of Infancy:

# Title Authors Year
1
Sustainable Positive Response to Sirolimus in Juvenile Polyposis of Infancy. ( 30334931 )
2019
2
Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach. ( 23331837 )
2013
3
Juvenile polyposis of infancy associated with paracentric inversion and deletion of chromosome 10 in a Hispanic patient: a case report. ( 20334546 )
2010
4
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. ( 16685657 )
2006
5
Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy. ( 16909400 )
2006
6
[Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes]. ( 17101085 )
2006

Variations for Juvenile Polyposis of Infancy

ClinVar genetic disease variations for Juvenile Polyposis of Infancy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR1A BMPR1A, DEL deletion Pathogenic

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 BMPR1A PTEN

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 BMPR1A PTEN
2 heart development GO:0007507 8.62 BMPR1A PTEN

Sources for Juvenile Polyposis of Infancy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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