MCID: PLY066
MIFTS: 15

Polyposis Syndrome, Hereditary Mixed, 2

Categories: Genetic diseases, Cancer diseases, Gastrointestinal 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 73
Hereditary Mixed Polyposis Syndrome 2 29 6
Hmps2 57 75
Polyposis Syndrome, Hereditary Mixed, Type 2 40
Polyposis Syndrome, Mixed Hereditary 2 75

Characteristics:

HPO:

32
polyposis syndrome, hereditary mixed, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 610069
MedGen 42 C1864730
MeSH 44 D018256
SNOMED-CT via HPO 69 263681008 363406005
UMLS 73 C1864730

Summaries for Polyposis Syndrome, Hereditary Mixed, 2

UniProtKB/Swiss-Prot : 75 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, is also known as hereditary mixed polyposis syndrome 2. An important gene associated with Polyposis Syndrome, Hereditary Mixed, 2 is BMPR1A (Bone Morphogenetic Protein Receptor Type 1A). Affiliated tissues include colon, and related phenotypes are colon cancer and adenomatous colonic polyposis

Description 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

Symptoms & Phenotypes for Polyposis Syndrome, Hereditary Mixed, 2

Clinical features from OMIM:

610069

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

32
# Description HPO Frequency HPO Source Accession
1 colon cancer 32 HP:0003003
2 adenomatous colonic polyposis 32 HP:0005227
3 hyperplastic colonic polyposis 32 HP:0012183
4 juvenile colonic polyposis 32 HP:0012198

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:

41
Colon

Publications for Polyposis Syndrome, Hereditary Mixed, 2

Variations for Polyposis Syndrome, Hereditary Mixed, 2

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR1A BMPR1A, 11-BP DEL, CODON 42 deletion Pathogenic

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

GO Terms for Polyposis Syndrome, Hereditary Mixed, 2

Sources for Polyposis Syndrome, Hereditary Mixed, 2

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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