MCID: HRD144
MIFTS: 24

Hereditary Mixed Polyposis Syndrome

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

Aliases & Classifications for Hereditary Mixed Polyposis Syndrome

MalaCards integrated aliases for Hereditary Mixed Polyposis Syndrome:

Name: Hereditary Mixed Polyposis Syndrome 59 37 6
Hereditary Mixed Polyposis 6
Hmps 59

Characteristics:

Orphanet epidemiological data:

59
hereditary mixed polyposis syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA157794
ICD10 via Orphanet 34 D12.6
KEGG 37 H01024

Summaries for Hereditary Mixed Polyposis Syndrome

MalaCards based summary : Hereditary Mixed Polyposis Syndrome, also known as hereditary mixed polyposis, is related to polyposis syndrome, hereditary mixed, 1 and polyposis syndrome, hereditary mixed, 2. An important gene associated with Hereditary Mixed Polyposis Syndrome is BMPR1A (Bone Morphogenetic Protein Receptor Type 1A), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and TGF-beta signaling pathway. Affiliated tissues include colon and bone, and related phenotypes are growth/size/body region and nervous system

Related Diseases for Hereditary Mixed Polyposis Syndrome

Diseases in the Hereditary Mixed Polyposis Syndrome family:

Polyposis Syndrome, Hereditary Mixed, 1 Polyposis Syndrome, Hereditary Mixed, 2

Diseases related to Hereditary Mixed Polyposis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polyposis syndrome, hereditary mixed, 1 30.4 GREM1 PTGS2 SCG5
2 polyposis syndrome, hereditary mixed, 2 11.3
3 juvenile polyposis syndrome 9.0 BMPR1A PTGS2

Symptoms & Phenotypes for Hereditary Mixed Polyposis Syndrome

MGI Mouse Phenotypes related to Hereditary Mixed Polyposis Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.56 BMPR1A GREM1 PTGS2 SCG5
2 nervous system MP:0003631 9.46 BMPR1A GREM1 PTGS2 SCG5
3 reproductive system MP:0005389 9.26 BMPR1A GREM1 PTGS2 SCG5
4 respiratory system MP:0005388 8.92 BMPR1A GREM1 PTGS2 SCG5

Drugs & Therapeutics for Hereditary Mixed Polyposis Syndrome

Search Clinical Trials , NIH Clinical Center for Hereditary Mixed Polyposis Syndrome

Genetic Tests for Hereditary Mixed Polyposis Syndrome

Anatomical Context for Hereditary Mixed Polyposis Syndrome

MalaCards organs/tissues related to Hereditary Mixed Polyposis Syndrome:

41
Colon, Bone

Publications for Hereditary Mixed Polyposis Syndrome

Articles related to Hereditary Mixed Polyposis Syndrome:

(show all 15)
# Title Authors Year
1
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance. ( 28242209 )
2017
2
Clinicopathologic Features of a Kindred with SCG5-GREM1-associated Hereditary Mixed Polyposis Syndrome. ( 27984123 )
2016
3
Hereditary mixed polyposis syndrome--own experience. ( 22763303 )
2012
4
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. ( 22561515 )
2012
5
Hereditary mixed polyposis syndrome due to a BMPR1A mutation. ( 19438883 )
2010
6
Germline bone morphogenesis protein receptor 1A mutation causes colorectal tumorigenesis in hereditary mixed polyposis syndrome. ( 19773747 )
2009
7
Clinical and pathological features of hereditary mixed polyposis syndrome: report on a South African family. ( 18807306 )
2008
8
Gene symbol: BMPR1A. Disease: Hereditary mixed polyposis syndrome. Accession #Hd0511. ( 17297679 )
2006
9
Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. ( 16525031 )
2006
10
Cyclooxygenase-2 expression in the hereditary mixed polyposis syndrome. ( 15628724 )
2004
11
A prospective study of the clinical, genetic, screening, and pathologic features of a family with hereditary mixed polyposis syndrome. ( 14572586 )
2003
12
An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome. ( 12696020 )
2003
13
Hereditary mixed polyposis syndrome: a zebra or a horse dressed in pinstripes. ( 9024316 )
1997
14
Clinical and molecular features of the hereditary mixed polyposis syndrome. ( 9024286 )
1997
15
Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q. ( 8644741 )
1996

Variations for Hereditary Mixed Polyposis Syndrome

ClinVar genetic disease variations for Hereditary Mixed Polyposis Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCG5 NM_001144757.2(SCG5): c.532C> T (p.Arg178Ter) single nucleotide variant Uncertain significance rs200799739 GRCh37 Chromosome 15, 32983953: 32983953
2 SCG5 NM_001144757.2(SCG5): c.532C> T (p.Arg178Ter) single nucleotide variant Uncertain significance rs200799739 GRCh38 Chromosome 15, 32691752: 32691752
3 GREM1 NM_013372.6(GREM1): c.169A> C (p.Asn57His) single nucleotide variant Uncertain significance rs754206331 GRCh37 Chromosome 15, 33023060: 33023060
4 GREM1 NM_013372.6(GREM1): c.169A> C (p.Asn57His) single nucleotide variant Uncertain significance rs754206331 GRCh38 Chromosome 15, 32730859: 32730859

Expression for Hereditary Mixed Polyposis Syndrome

Search GEO for disease gene expression data for Hereditary Mixed Polyposis Syndrome.

Pathways for Hereditary Mixed Polyposis Syndrome

Pathways related to Hereditary Mixed Polyposis Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060
2 TGF-beta signaling pathway hsa04350

GO Terms for Hereditary Mixed Polyposis Syndrome

Cellular components related to Hereditary Mixed Polyposis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 caveola GO:0005901 8.62 BMPR1A PTGS2

Biological processes related to Hereditary Mixed Polyposis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 8.62 GREM1 PTGS2

Molecular functions related to Hereditary Mixed Polyposis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 8.8 BMPR1A GREM1 PTGS2

Sources for Hereditary Mixed Polyposis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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