HMPS2
MCID: PLY066
MIFTS: 28

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 57 13 70
Hereditary Mixed Polyposis Syndrome 2 12 29 6 15
Hmps2 57 12 72
Polyposis Syndrome, Hereditary Mixed, Type 2 39
Polyposis Syndrome, Mixed Hereditary 2 72

Characteristics:

HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111686
OMIM® 57 610069
MeSH 44 D018256
MedGen 41 C1864730
SNOMED-CT via HPO 68 263681008 363406005
UMLS 70 C1864730

Summaries for Polyposis Syndrome, Hereditary Mixed, 2

UniProtKB/Swiss-Prot : 72 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 penile disease. 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 HIF1Alpha Pathway and Endothelin Pathways. 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 penile disease 9.5 TLR7 NOS3 BMPR1A

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 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 ARSB BMPR1A LPIN2 NOS3 PSEN1 SLC2A4
2 muscle MP:0005369 9.02 ARSB BMPR1A NOS3 PSEN1 SLC2A4

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. 57 6
16525031 2006
2
Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q. 57
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 Position
1 BMPR1A BMPR1A, 11-BP DEL, CODON 42 Deletion Pathogenic 8237 GRCh37:
GRCh38:
2 BMPR1A NM_004329.2(BMPR1A):c.502_504ATC[1] (p.Ile169del) Microsatellite Uncertain significance 374165 rs1057518941 GRCh37: 10:88659855-88659857
GRCh38: 10:86900098-86900100
3 BMPR1A NM_004329.2(BMPR1A):c.760C>T (p.Arg254Cys) SNV Uncertain significance 142599 rs587782578 GRCh37: 10:88676975-88676975
GRCh38: 10:86917218-86917218
4 BMPR1A NM_004329.2(BMPR1A):c.478A>G (p.Met160Val) SNV Uncertain significance 141022 rs145101532 GRCh37: 10:88659831-88659831
GRCh38: 10:86900074-86900074
5 BMPR1A NM_004329.2(BMPR1A):c.1327C>T (p.Arg443Cys) SNV Uncertain significance 133717 rs35619497 GRCh37: 10:88681437-88681437
GRCh38: 10:86921680-86921680
6 BMPR1A NM_004329.3(BMPR1A):c.979G>A (p.Asp327Asn) SNV Uncertain significance 997670 GRCh37: 10:88679039-88679039
GRCh38: 10:86919282-86919282
7 BMPR1A NM_004329.2(BMPR1A):c.676G>T (p.Val226Phe) SNV Uncertain significance 127902 rs587780110 GRCh37: 10:88676891-88676891
GRCh38: 10:86917134-86917134
8 BMPR1A NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) SNV Uncertain significance 41780 rs113849804 GRCh37: 10:88683223-88683223
GRCh38: 10:86923466-86923466
9 BMPR1A NM_004329.2(BMPR1A):c.1379T>C (p.Met460Thr) SNV Uncertain significance 185192 rs758309022 GRCh37: 10:88683169-88683169
GRCh38: 10:86923412-86923412

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 10.69 SLC2A4 NOS3
2 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 caveola GO:0005901 9.26 NOS3 BMPR1A
2 rough endoplasmic reticulum GO:0005791 9.16 PSEN1 ARSB
3 vesicle membrane GO:0012506 8.96 SLC2A4 NOS3
4 cell surface GO:0009986 8.92 SLC2A4 PSEN1 BMPR1A ARSB

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

# Name GO ID Score Top Affiliating Genes
1 learning or memory GO:0007611 9.16 SLC2A4 PSEN1
2 somitogenesis GO:0001756 8.96 PSEN1 BMPR1A
3 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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