MCID: DSM003
MIFTS: 50

Desmoid Disease, Hereditary malady

Genetic diseases, Rare diseases, Cancer diseases, Muscle diseases categories

Summaries for Desmoid Disease, Hereditary

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NIH Rare Diseases:43 Desmoid tumors are benign (noncancerous) growths of the connective tissue. although these tumors rarely spread to more distant parts of the body, they have a tendency to invade surrounding tissues and can be very difficult to remove. signs and symptoms vary from person to person and largely depend on the size and location of the tumor; however, many affected people experience pain, numbness, and/or tingling. the cause of desmoid tumors is unknown, but they sometimes occur in people with certain conditions such as familial adenomatous polyposis (fap). treatment consists of surgery to remove as much of the tumor as possible. radiation therapy, chemotherapy, and/or hormone therapy may also be used in some cases. last updated: 11/30/2014

MalaCards based summary: Desmoid Disease, Hereditary, also known as desmoid tumor, is related to fibromatosis and adenomatous polyposis coli, and has symptoms including desmoid tumors, abnormality of the abdominal wall and sarcoma. An important gene associated with Desmoid Disease, Hereditary is APC (adenomatous polyposis coli), and among its related pathways are Human Embryonic Stem Cell Pluripotency and beta-catenin independent WNT signaling. The compounds 1-hydroxyanthraquinone and methylazoxymethanol acetate have been mentioned in the context of this disorder. Affiliated tissues include bone, colon and skin, and related mouse phenotypes are hearing/vestibular/ear and pigmentation.

Genetics Home Reference:23 A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. The tumors can occur anywhere in the body. Tumors that form in the abdominal wall are called abdominal desmoid tumors; those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors; and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs.

OMIM:47 Hereditary desmoid disease usually presents as an extraintestinal manifestation of familial adenomatous polyposis (FAP;... (135290) more...

Aliases & Classifications for Desmoid Disease, Hereditary

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 62UMLS, 23Genetics Home Reference, 49Orphanet, 45Novoseek, 24GTR, 28ICD10 via Orphanet
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Desmoid Disease, Hereditary, Aliases & Descriptions:

Name: Desmoid Disease, Hereditary 47 11 43 62
Desmoid Tumor 43 23 45 49
Aggressive Fibromatosis 43 23 49
Fibromatosis, Familial Infiltrative 43 62
Familial Infiltrative Fibromatosis 43 23
Hereditary Desmoid Disease 23 24
 
Desmoid Type Fibromatosis 43 49
Musculoaponeurotic Fibromatosis 23
Desmoid Fibromatosis 23
Deep Fibromatosis 23
Fif 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Muscle diseases
Orphanet: 49 
Rare tumors


Characteristics (Orphanet epidemiological data):

49
desmoid tumor:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult; Age of death: normal life expectancy


External Ids:

OMIM47 135290
Orphanet49 873
ICD10 via Orphanet28 D48.1

Related Diseases for Desmoid Disease, Hereditary

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Graphical network of the top 20 diseases related to Desmoid Disease, Hereditary:



Diseases related to desmoid disease, hereditary

Symptoms for Desmoid Disease, Hereditary

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Symptoms by clinical synopsis from OMIM:

135290

Clinical features from OMIM:

135290

Symptoms:

 49 (show all 21)
  • anomalies of the abdominal wall
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • muscle anomalies
  • fibromatosis/bone fibroma
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • polyposis of the bowel/colon/intestine
  • acute abdominal pain/colic
  • myalgia/muscular pain
  • retinitis pigmentosa/retinal pigmentary changes
  • skin tumors/lumps/epidermal cysts
  • malabsorption/chronic diarrhea/steatorrhea
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • intestinal obstruction/ileus
  • thoracic/chest pain
  • bladder and ureter anomalies
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • osteolysis/osteoclasia/bone destruction/erosions
  • articular/joint pain/arthralgia
  • restricted joint mobility/joint stiffness/ankylosis
  • early death/lethality
  • sepsis severe/septicemia

HPO human phenotypes related to Desmoid Disease, Hereditary:

(show all 20)
id Description Frequency HPO Source Accession
1 desmoid tumors hallmark (90%) HP:0100245
2 abnormality of the abdominal wall hallmark (90%) HP:0004298
3 sarcoma hallmark (90%) HP:0100242
4 abdominal pain typical (50%) HP:0002027
5 myalgia typical (50%) HP:0003326
6 intestinal polyposis typical (50%) HP:0200008
7 epidermoid cyst frequent (33%) HP:0200040
8 limitation of joint mobility occasional (7.5%) HP:0001376
9 malabsorption occasional (7.5%) HP:0002024
10 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
11 osteolysis occasional (7.5%) HP:0002797
12 arthralgia occasional (7.5%) HP:0002829
13 intestinal obstruction occasional (7.5%) HP:0005214
14 abnormal retinal pigmentation occasional (7.5%) HP:0007703
15 neoplasm of the skin occasional (7.5%) HP:0008069
16 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
17 chest pain occasional (7.5%) HP:0100749
18 sepsis occasional (7.5%) HP:0100806
19 colon cancer rare (5%) HP:0003003
20 autosomal dominant inheritance HP:0000006

Drugs & Therapeutics for Desmoid Disease, Hereditary

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Drug clinical trials:

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Genetic Tests for Desmoid Disease, Hereditary

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Genetic tests related to Desmoid Disease, Hereditary:

id Genetic test Affiliating Genes
1 Desmoid Disease, Hereditary24

Anatomical Context for Desmoid Disease, Hereditary

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MalaCards organs/tissues related to Desmoid Disease, Hereditary:

33
Bone, Colon, Skin

Animal Models for Desmoid Disease, Hereditary or affiliated genes

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MGI Mouse Phenotypes related to Desmoid Disease, Hereditary:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1CTNNB1, APC
2MP:00011868.8CTNNB1, APC

Publications for Desmoid Disease, Hereditary

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Variations for Desmoid Disease, Hereditary

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Clinvar genetic disease variations for Desmoid Disease, Hereditary:

7
id Gene Variation Type Significance SNP ID Assembly Location
1APCAPC, 2-BP INS, CODON 1924insertionPathogenic
2APCAPC, 4-BP DEL, NT5844deletionPathogenic
3APCNM_000038.5: c.4575_4576ins337insertionPathogenicGRCh38Chr 5, 112840169: 112840170
4APCAPC, 4-BP DEL, 7929TCTAdeletionPathogenic

Expression for genes affiliated with Desmoid Disease, Hereditary

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Search GEO for disease gene expression data for Desmoid Disease, Hereditary.

Pathways for genes affiliated with Desmoid Disease, Hereditary

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Pathways related to Desmoid Disease, Hereditary according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1CTNNB1, APC
2
Show member pathways
9.1CTNNB1, APC
3
Show member pathways
DNA damage response (only ATM dependent)38
Wnt Signaling Pathway and Pluripotency38
9.1APC, CTNNB1
49.1CTNNB1, APC
59.1CTNNB1, APC
69.1APC, CTNNB1
7
Show member pathways
Wnt Signaling Pathway NetPath38
9.1CTNNB1, APC
8
Show member pathways
9.1CTNNB1, APC
9
Show member pathways
Proteasome Degradation38
Immune response Antigen presentation by MHC class I60
9.1CTNNB1, APC
109.1CTNNB1, APC
119.1APC, CTNNB1
129.1CTNNB1, APC
139.1APC, CTNNB1
149.1CTNNB1, APC
159.1CTNNB1, APC
16
Show member pathways
RAC1 signaling pathway38
9.1CTNNB1, APC
179.1APC, CTNNB1
18
Show member pathways
9.1CTNNB1, APC
199.1CTNNB1, APC
209.1APC, CTNNB1
219.1CTNNB1, APC
22
Show member pathways
9.1CTNNB1, APC
239.1APC, CTNNB1
24
Show member pathways
Signal transduction PTEN pathway60
9.1CTNNB1, APC
259.1CTNNB1, APC
269.1CTNNB1, APC

Compounds for genes affiliated with Desmoid Disease, Hereditary

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Compounds related to Desmoid Disease, Hereditary according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
11-hydroxyanthraquinone459.5APC, CTNNB1
2methylazoxymethanol acetate459.5APC, CTNNB1
3samp459.5APC, CTNNB1
41,2-dimethylhydrazine459.5CTNNB1, APC
5azoxymethane459.5CTNNB1, APC
62-amino-3-methylimidazo(4,5-f)quinoline459.5CTNNB1, APC
7exisulind459.5CTNNB1, APC
8sodium bisulfite459.5APC, CTNNB1
9phip459.5CTNNB1, APC
10crcs459.5CTNNB1, APC
11sulindac45 1310.5APC, CTNNB1
12celecoxib45 61 30 51 26 1314.5APC, CTNNB1
13lithium45 51 26 1312.5CTNNB1, APC
14nocodazole45 1310.5APC, CTNNB1
15linoleic acid30 45 2611.5APC, CTNNB1
16curcumin459.5CTNNB1, APC
175-aza-2deoxycytidine459.5APC, CTNNB1
18pyruvate459.5APC, CTNNB1
19guanine45 26 1311.5APC, CTNNB1
20aspirin45 51 30 2612.5CTNNB1, APC
21vitamin d459.4CTNNB1, APC
22nmda45 3010.4APC, CTNNB1
23phospholipid459.4CTNNB1, APC
24rapamycin459.4CTNNB1, APC
25wortmannin459.4APC, CTNNB1
26glycogen45 2610.4CTNNB1, APC
27phosphoinositide459.4CTNNB1, APC
28paraffin459.4APC, CTNNB1
29gtp45 3010.3CTNNB1, APC
30glutamine459.3CTNNB1, APC
31pge2459.3APC, CTNNB1
32fatty acid459.2APC, CTNNB1
33dopamine45 30 26 1312.2CTNNB1, APC
34cycloheximide459.1APC, CTNNB1
35oligonucleotide459.1APC, CTNNB1
36progesterone45 30 61 26 1313.0CTNNB1, APC
37testosterone45 61 26 1311.8CTNNB1, APC

GO Terms for genes affiliated with Desmoid Disease, Hereditary

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Cellular components related to Desmoid Disease, Hereditary according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1beta-catenin destruction complexGO:00308779.2CTNNB1, APC
2cell-cell adherens junctionGO:00059139.1CTNNB1, APC
3centrosomeGO:00058139.1CTNNB1, APC
4lateral plasma membraneGO:00163289.0APC, CTNNB1
5lamellipodiumGO:00300278.8CTNNB1, APC

Biological processes related to Desmoid Disease, Hereditary according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1canonical Wnt signaling pathway involved in negative regulation of apoptotic processGO:00443369.4CTNNB1, APC
2proximal/distal pattern formationGO:00099549.3CTNNB1, APC
3T cell differentiation in thymusGO:00330779.3APC, CTNNB1
4thymus developmentGO:00485389.3CTNNB1, APC
5cellular component disassembly involved in execution phase of apoptosisGO:00069219.2CTNNB1, APC
6canonical Wnt signaling pathwayGO:00600709.2APC, CTNNB1
7positive regulation of apoptotic processGO:00430659.1CTNNB1, APC
8apoptotic processGO:00069159.1CTNNB1, APC
9negative regulation of cell proliferationGO:00082859.0CTNNB1, APC
10cell adhesionGO:00071558.8CTNNB1, APC

Molecular functions related to Desmoid Disease, Hereditary according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein kinase bindingGO:00199019.1CTNNB1, APC
2cadherin bindingGO:00452968.8CTNNB1, APC

Products for genes affiliated with Desmoid Disease, Hereditary

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Sources for Desmoid Disease, Hereditary

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet