HMPS1
MCID: PLY162
MIFTS: 41

Polyposis Syndrome, Hereditary Mixed, 1 (HMPS1)

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

Aliases & Classifications for Polyposis Syndrome, Hereditary Mixed, 1

MalaCards integrated aliases for Polyposis Syndrome, Hereditary Mixed, 1:

Name: Polyposis Syndrome, Hereditary Mixed, 1 57 73
Polyposis Syndrome, Mixed Hereditary 1 57 75 13
Colorectal Cancer 4 57 75 29
Hereditary Mixed Polyposis Syndrome 1 29 6
Colorectal Adenoma and Carcinoma 1 57 75
Adenomatous Polyps 44 73
Hmps1 57 75
Crac1 57 75
Susceptibility to Colorectal Cancer on Chromosome 15 75
Chromosome 15q13-Q14 Duplication Syndrome, 40-Kb 57
Colorectal Adenoma and Carcinoma 1; Crac1 57
Colorectal Cancer, Susceptibility to, 4 57
Crcs4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
polyposis syndrome, hereditary mixed, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601228
SNOMED-CT via HPO 69 263681008

Summaries for Polyposis Syndrome, Hereditary Mixed, 1

UniProtKB/Swiss-Prot : 75 Colorectal cancer 4: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Polyposis syndrome, mixed hereditary 1: A disease characterized by apparent autosomal dominant inheritance of multiple types of colorectal polyp, with colorectal carcinoma occurring in a high proportion of affected individuals. Patients can develop polyps of multiple and mixed morphologies, including serrated lesions, Peutz-Jeghers polyps, juvenile polyps, conventional adenomas and colorectal carcinoma in the absence of any identifiable extra- colonic features.

MalaCards based summary : Polyposis Syndrome, Hereditary Mixed, 1, also known as polyposis syndrome, mixed hereditary 1, is related to familial adenomatous polyposis and adenocarcinoma. An important gene associated with Polyposis Syndrome, Hereditary Mixed, 1 is GREM1 (Gremlin 1, DAN Family BMP Antagonist), and among its related pathways/superpathways are Pathways in cancer and Colorectal Cancer Metastasis. Affiliated tissues include colon, skin and bone, and related phenotypes are abnormality of abdomen morphology and Increased shRNA abundance

OMIM : 57 The hereditary mixed polyposis syndrome (HMPS) is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas (CRC). (601228)

Related Diseases for Polyposis Syndrome, Hereditary Mixed, 1

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 31.6 APC MLH1 MUTYH PTGS2
2 adenocarcinoma 30.1 APC MLH1 PTGS2
3 mutyh-associated polyposis 29.9 APC MUTYH
4 colorectal adenocarcinoma 29.5 MLH1 PTGS2
5 adenoma 29.5 APC MLH1 MUTYH PTGS2
6 barrett esophagus 29.5 APC MUC6 PTGS2
7 colorectal cancer 29.4 APC MLH1 MUC6 MUTYH PTGS2
8 familial colorectal cancer 29.4 APC GREM1 MLH1 MUTYH
9 colorectal adenoma 29.2 APC MLH1 MUTYH PTGS2
10 gastric cancer 28.9 APC MLH1 MUC6 MUTYH PTGS2
11 colorectal cancer, hereditary nonpolyposis, type 4 11.8
12 familial adenomatous polyposis 1 11.4
13 colon adenoma 11.3
14 cervical polyp 11.3
15 familial adenomatous polyposis 2 11.2
16 familial adenomatous polyposis 3 11.2
17 familial adenomatous polyposis 4 11.2
18 helicobacter pylori infection 10.1
19 mantle cell lymphoma 10.1
20 lymphoma 10.1
21 hyperplastic polyposis syndrome 10.1 APC MUTYH
22 colitis 10.1
23 attenuated familial adenomatous polyposis 10.1 APC MUTYH
24 duodenum cancer 10.0 MUC6 MUTYH
25 anal squamous cell carcinoma 10.0 APC MLH1
26 small intestine adenocarcinoma 10.0 MLH1 MUC6
27 adenomyoma 10.0 MLH1 MUC6
28 mismatch repair cancer syndrome 10.0 APC MLH1
29 muir-torre syndrome 10.0 MLH1 MUTYH
30 small intestine cancer 10.0 MLH1 MUC6
31 cell type benign neoplasm 9.9 MLH1 MUTYH
32 epidermoid cysts 9.9
33 intussusception 9.9
34 polyposis, gastric 9.9
35 polyposis, skin pigmentation, alopecia, and fingernail changes 9.9
36 insulin-like growth factor i 9.9
37 diabetes mellitus 9.9
38 ulcerative colitis 9.9
39 clostridium difficile colitis 9.9
40 cholelithiasis 9.9
41 microinvasive gastric cancer 9.9
42 cryptococcosis 9.9
43 carotid stenosis 9.9
44 transverse colon cancer 9.9
45 hyperglycemia 9.9
46 skin tag 9.9
47 goblet cell carcinoid 9.9
48 posttransplant acute limbic encephalitis 9.9
49 ovarian fibrothecoma 9.9
50 cervical adenosquamous carcinoma 9.9 MUC6 PTGS2

Graphical network of the top 20 diseases related to Polyposis Syndrome, Hereditary Mixed, 1:



Diseases related to Polyposis Syndrome, Hereditary Mixed, 1

Symptoms & Phenotypes for Polyposis Syndrome, Hereditary Mixed, 1

Symptoms via clinical synopsis from OMIM:

57
G I:
atypical juvenile polyps (174900)
colonic adenomas
colorectal carcinomas
inflammatory and metaplastic polyps

Misc:
? variant of juvenile polyposis


Clinical features from OMIM:

601228

Human phenotypes related to Polyposis Syndrome, Hereditary Mixed, 1:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of abdomen morphology 32 HP:0001438

GenomeRNAi Phenotypes related to Polyposis Syndrome, Hereditary Mixed, 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.8 APC MLH1 MUTYH

MGI Mouse Phenotypes related to Polyposis Syndrome, Hereditary Mixed, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 APC GREM1 MLH1 MUTYH PTGS2 SCG5
2 mortality/aging MP:0010768 9.73 APC GREM1 MLH1 MUTYH PTGS2 SCG5
3 neoplasm MP:0002006 9.46 APC MLH1 MUTYH PTGS2
4 reproductive system MP:0005389 9.35 APC GREM1 MLH1 PTGS2 SCG5
5 respiratory system MP:0005388 8.92 GREM1 MLH1 PTGS2 SCG5

Drugs & Therapeutics for Polyposis Syndrome, Hereditary Mixed, 1

Search Clinical Trials , NIH Clinical Center for Polyposis Syndrome, Hereditary Mixed, 1

Cochrane evidence based reviews: adenomatous polyps

Genetic Tests for Polyposis Syndrome, Hereditary Mixed, 1

Genetic tests related to Polyposis Syndrome, Hereditary Mixed, 1:

# Genetic test Affiliating Genes
1 Hereditary Mixed Polyposis Syndrome 1 29
2 Colorectal Cancer 4 29

Anatomical Context for Polyposis Syndrome, Hereditary Mixed, 1

MalaCards organs/tissues related to Polyposis Syndrome, Hereditary Mixed, 1:

41
Colon, Skin, Bone, Small Intestine

Publications for Polyposis Syndrome, Hereditary Mixed, 1

Articles related to Polyposis Syndrome, Hereditary Mixed, 1:

# Title Authors Year
1
Efficacy and Tolerability of Adjuvant Oral Capecitabine plus Intravenous Oxaliplatin (XELOX) in Asian Patients with Colorectal Cancer: 4-Year Analysis. ( 24377572 )
2013

Variations for Polyposis Syndrome, Hereditary Mixed, 1

ClinVar genetic disease variations for Polyposis Syndrome, Hereditary Mixed, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCG5 NC_000015.10: g.32672737_32712558dup duplication Pathogenic GRCh37 Chromosome 15, 32964938: 33004759
2 SCG5 NC_000015.10: g.32672737_32712558dup duplication Pathogenic GRCh38 Chromosome 15, 32672737: 32712558

Cosmic variations for Polyposis Syndrome, Hereditary Mixed, 1:

9 (show top 50) (show all 18877)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM33066 ZZZ3 large intestine,colon,carcinoma,adenocarcinoma c.1366C>T p.P456S 1:77631989-77631989 8
2 COSM6940205 ZRSR2 large intestine,colon,carcinoma,adenocarcinoma c.553G>T p.D185Y 23:15809314-15809314 8
3 COSM6452015 ZRSR2 large intestine,colon,carcinoma,adenocarcinoma c.917G>A p.R306Q 23:15820296-15820296 8
4 COSM33067 ZNHIT6 large intestine,colon,carcinoma,adenocarcinoma c.1364T>A p.L455H 1:85657855-85657855 8
5 COSM32824 ZNHIT1 large intestine,colon,carcinoma,adenocarcinoma c.400C>T p.R134W 7:101223799-101223799 8
6 COSM50818 ZNF813 large intestine,colon,carcinoma,adenocarcinoma c.1636G>A p.G546R 19:53491871-53491871 8
7 COSM50465 ZNF536 large intestine,colon,carcinoma,adenocarcinoma c.1158G>T p.W386C 19:30444720-30444720 8
8 COSM50466 ZNF536 large intestine,colon,carcinoma,adenocarcinoma c.2533C>G p.L845V 19:30548152-30548152 8
9 COSM50281 ZNF521 large intestine,colon,carcinoma,adenocarcinoma c.3524C>T p.T1175M 18:25224394-25224394 8
10 COSM50969 ZNF280D large intestine,colon,carcinoma,adenocarcinoma c.2020A>C p.R674R 15:56658461-56658461 8
11 COSM32994 ZNF217 large intestine,colon,carcinoma,adenocarcinoma c.967G>A p.D323N 20:53581860-53581860 8
12 COSM32679 ZNF155 large intestine,colon,carcinoma,adenocarcinoma c.1421A>G p.H474R 19:43997278-43997278 8
13 COSM50671 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1850G>A p.R617H 7:44763403-44763403 8
14 COSM50764 ZFHX4 large intestine,colon,carcinoma,adenocarcinoma c.681C>A p.F227L 8:76704769-76704769 8
15 COSM6964399 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2339C>T p.A780V 16:72957807-72957807 8
16 COSM6944275 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2324C>T p.A775V 16:72957822-72957822 8
17 COSM6957094 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3412A>T p.I1138F 16:72889767-72889767 8
18 COSM6953704 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.1623G>C p.Q541H 16:72958523-72958523 8
19 COSM6845173 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3863C>T p.T1288M 16:72811578-72811578 8
20 COSM973505 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7928G>A p.R2643H 16:72794754-72794754 8
21 COSM6964664 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2318C>T p.A773V 16:72957828-72957828 8
22 COSM6939325 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9997C>A p.Q3333K 16:72788279-72788279 8
23 COSM6845177 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7490C>T p.S2497L 16:72795192-72795192 8
24 COSM6941798 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.10754C>G p.S3585C 16:72787522-72787522 8
25 COSM6941382 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.392G>T p.G131V 16:72959754-72959754 8
26 COSM6964606 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.5555A>C p.Q1852P 16:72797127-72797127 8
27 COSM6939326 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.4242A>C p.E1414D 16:72798440-72798440 8
28 COSM6964400 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.500C>T p.P167L 16:72959646-72959646 8
29 COSM6941989 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.4251G>C p.Q1417H 16:72798431-72798431 8
30 COSM6941490 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.10415C>T p.A3472V 16:72787861-72787861 8
31 COSM6955210 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7381G>A p.E2461K 16:72795301-72795301 8
32 COSM4062694 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.10346C>T p.A3449V 16:72787930-72787930 8
33 COSM6955208 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7804A>G p.T2602A 16:72794878-72794878 8
34 COSM6942790 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.1532C>A p.P511H 16:72958614-72958614 8
35 COSM6977044 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3367C>T p.R1123W 16:72889812-72889812 8
36 COSM6956224 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.950T>A p.L317H 16:72959196-72959196 8
37 COSM6941990 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.1081G>A p.G361R 16:72959065-72959065 8
38 COSM6978946 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9227T>G p.M3076R 16:72793455-72793455 8
39 COSM6927022 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2822C>T p.S941L 16:72950863-72950863 8
40 COSM6959968 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2548C>A p.L850I 16:72957598-72957598 8
41 COSM6950051 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.1238C>A p.T413N 16:72958908-72958908 8
42 COSM4062703 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.8968G>A p.V2990I 16:72793714-72793714 8
43 COSM6974762 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9467G>A p.S3156N 16:72788809-72788809 8
44 COSM3276831 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.6296C>T p.P2099L 16:72796386-72796386 8
45 COSM6845159 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3829G>A p.V1277M 16:72811612-72811612 8
46 COSM6955209 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7666G>A p.A2556T 16:72795016-72795016 8
47 COSM33074 ZEB2 large intestine,colon,carcinoma,adenocarcinoma c.2947G>A p.D983N 2:144396532-144396532 8
48 COSM32424 ZDHHC7 large intestine,colon,carcinoma,adenocarcinoma c.130G>A p.D44N 16:84990489-84990489 8
49 COSM32851 ZBTB46 large intestine,colon,carcinoma,adenocarcinoma c.25G>T p.E9* 20:63790733-63790733 8
50 COSM33142 YIPF1 large intestine,colon,carcinoma,adenocarcinoma c.475C>T p.R159* 1:53871378-53871378 8

Expression for Polyposis Syndrome, Hereditary Mixed, 1

Search GEO for disease gene expression data for Polyposis Syndrome, Hereditary Mixed, 1.

Pathways for Polyposis Syndrome, Hereditary Mixed, 1

Pathways related to Polyposis Syndrome, Hereditary Mixed, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.05 APC MLH1 PTGS2
2 11.02 APC MLH1 PTGS2
3 10.91 GREM1 PTGS2

GO Terms for Polyposis Syndrome, Hereditary Mixed, 1

Biological processes related to Polyposis Syndrome, Hereditary Mixed, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.33 APC MLH1 MUTYH
2 positive regulation of cell death GO:0010942 8.96 APC PTGS2
3 mismatch repair GO:0006298 8.62 MLH1 MUTYH

Molecular functions related to Polyposis Syndrome, Hereditary Mixed, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MutSalpha complex binding GO:0032407 8.62 MLH1 MUTYH

Sources for Polyposis Syndrome, Hereditary Mixed, 1

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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