HMPS2
MCID: PLY066
MIFTS: 31

Polyposis Syndrome, Hereditary Mixed, 2 (HMPS2)

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

Aliases & Classifications for Polyposis Syndrome, Hereditary Mixed, 2

MalaCards integrated aliases for Polyposis Syndrome, Hereditary Mixed, 2:

Name: Polyposis Syndrome, Hereditary Mixed, 2 56 13 71
Hereditary Mixed Polyposis Syndrome 2 12 29 6 15
Hmps2 56 12 73
Polyposis Syndrome, Hereditary Mixed, Type 2 39
Polyposis Syndrome, Mixed Hereditary 2 73

Characteristics:

HPO:

31
polyposis syndrome, hereditary mixed, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111686
OMIM 56 610069
MeSH 43 D018256
MedGen 41 C1864730
SNOMED-CT via HPO 68 263681008 363406005
UMLS 71 C1864730

Summaries for Polyposis Syndrome, Hereditary Mixed, 2

UniProtKB/Swiss-Prot : 73 Polyposis syndrome, mixed hereditary 2: A disease is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas.

MalaCards based summary : Polyposis Syndrome, Hereditary Mixed, 2, also known as hereditary mixed polyposis syndrome 2, is related to mucopolysaccharidosis iv and mucopolysaccharidosis, type ii. An important gene associated with Polyposis Syndrome, Hereditary Mixed, 2 is BMPR1A (Bone Morphogenetic Protein Receptor Type 1A), and among its related pathways/superpathways are Glycerolipid metabolism and HIF1Alpha Pathway. Affiliated tissues include colon, and related phenotypes are colon cancer and adenomatous colonic polyposis

Disease Ontology : 12 A hereditary mixed polyposis syndrome that has material basis in heterozygous mutation in BMPR1A on chromosome 10q23.2.

More information from OMIM: 610069

Related Diseases for Polyposis Syndrome, Hereditary Mixed, 2

Diseases in the Hereditary Mixed Polyposis Syndrome family:

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

Diseases related to Polyposis Syndrome, Hereditary Mixed, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis iv 10.1 GLA ARSB
2 mucopolysaccharidosis, type ii 10.1 GLA ARSB
3 mucopolysaccharidosis, type vi 10.0 GLA ARSB
4 penile disease 10.0 NOS3 BMPR1A
5 hereditary mixed polyposis syndrome 9.9 IMMT BMPR1A
6 scheie syndrome 9.9 GLA ARSB
7 stroke, ischemic 9.0 PSEN1 NOS3 GLA

Graphical network of the top 20 diseases related to Polyposis Syndrome, Hereditary Mixed, 2:



Diseases related to Polyposis Syndrome, Hereditary Mixed, 2

Symptoms & Phenotypes for Polyposis Syndrome, Hereditary Mixed, 2

Human phenotypes related to Polyposis Syndrome, Hereditary Mixed, 2:

31
# Description HPO Frequency HPO Source Accession
1 colon cancer 31 HP:0003003
2 adenomatous colonic polyposis 31 HP:0005227
3 hyperplastic colonic polyposis 31 HP:0012183
4 juvenile colonic polyposis 31 HP:0012198

Clinical features from OMIM:

610069

MGI Mouse Phenotypes related to Polyposis Syndrome, Hereditary Mixed, 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 ARSB BMPR1A GLA LPIN2 NOS3 PSEN1
2 muscle MP:0005369 9.43 ARSB BMPR1A GLA NOS3 PSEN1 SLC2A4
3 nervous system MP:0003631 9.17 ARSB BMPR1A GLA LPIN2 NOS3 PSEN1

Drugs & Therapeutics for Polyposis Syndrome, Hereditary Mixed, 2

Search Clinical Trials , NIH Clinical Center for Polyposis Syndrome, Hereditary Mixed, 2

Genetic Tests for Polyposis Syndrome, Hereditary Mixed, 2

Genetic tests related to Polyposis Syndrome, Hereditary Mixed, 2:

# Genetic test Affiliating Genes
1 Hereditary Mixed Polyposis Syndrome 2 29 BMPR1A

Anatomical Context for Polyposis Syndrome, Hereditary Mixed, 2

MalaCards organs/tissues related to Polyposis Syndrome, Hereditary Mixed, 2:

40
Colon

Publications for Polyposis Syndrome, Hereditary Mixed, 2

Articles related to Polyposis Syndrome, Hereditary Mixed, 2:

# Title Authors PMID Year
1
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. 6 56
16525031 2006
2
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
3
Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q. 56
8644741 1996

Variations for Polyposis Syndrome, Hereditary Mixed, 2

ClinVar genetic disease variations for Polyposis Syndrome, Hereditary Mixed, 2:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMPR1A BMPR1A, 11-BP DEL, CODON 42deletion Pathogenic 8237
2 BMPR1A NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)SNV Conflicting interpretations of pathogenicity 41780 rs113849804 10:88683223-88683223 10:86923466-86923466
3 BMPR1A NM_004329.2(BMPR1A):c.760C>T (p.Arg254Cys)SNV Conflicting interpretations of pathogenicity 142599 rs587782578 10:88676975-88676975 10:86917218-86917218
4 BMPR1A NM_004329.2(BMPR1A):c.1379T>C (p.Met460Thr)SNV Uncertain significance 185192 rs758309022 10:88683169-88683169 10:86923412-86923412
5 BMPR1A NM_004329.2(BMPR1A):c.676G>T (p.Val226Phe)SNV Uncertain significance 127902 rs587780110 10:88676891-88676891 10:86917134-86917134
6 BMPR1A NM_004329.2(BMPR1A):c.478A>G (p.Met160Val)SNV Uncertain significance 141022 rs145101532 10:88659831-88659831 10:86900074-86900074

Expression for Polyposis Syndrome, Hereditary Mixed, 2

Search GEO for disease gene expression data for Polyposis Syndrome, Hereditary Mixed, 2.

Pathways for Polyposis Syndrome, Hereditary Mixed, 2

Pathways related to Polyposis Syndrome, Hereditary Mixed, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.94 LPIN2 GLA
2 10.69 SLC2A4 NOS3
3 10.15 NOS3 MT-CO2

GO Terms for Polyposis Syndrome, Hereditary Mixed, 2

Cellular components related to Polyposis Syndrome, Hereditary Mixed, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.55 TRAPPC12 PSEN1 NOS3 GLA ARSB
2 cell surface GO:0009986 9.26 SLC2A4 PSEN1 BMPR1A ARSB
3 vesicle membrane GO:0012506 8.62 SLC2A4 NOS3

Biological processes related to Polyposis Syndrome, Hereditary Mixed, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 somitogenesis GO:0001756 8.96 PSEN1 BMPR1A
2 endocardial cushion morphogenesis GO:0003203 8.62 NOS3 BMPR1A

Sources for Polyposis Syndrome, Hereditary Mixed, 2

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....