MCID: DSM003
MIFTS: 44

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:41 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:21 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:45 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:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
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Desmoid Disease, Hereditary, Aliases & Descriptions:

Name: Desmoid Disease, Hereditary 45 10 41 60
Desmoid Tumor 41 21 43 47
Aggressive Fibromatosis 41 21 47
Familial Infiltrative Fibromatosis 41 21
Hereditary Desmoid Disease 21 22
Desmoid Type Fibromatosis 41 47
Fibromatosis, Familial Infiltrative 41
 
Musculo-Aponeurotic Fibromatosis 60
Musculoaponeurotic Fibromatosis 21
Fibromatosis, Aggressive 60
Desmoid Fibromatosis 21
Deep Fibromatosis 21
Fif 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Muscle diseases
Orphanet: 47 
Rare tumors


Characteristics (Orphanet epidemiological data):

47
desmoid tumor:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult; Age of death: normal life expectancy


External Ids:

OMIM45 135290
Orphanet47 873
ICD10 via Orphanet26 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:

 47 (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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Search NIH Clinical Center for Desmoid Disease, Hereditary

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, Hereditary22

Anatomical Context for Desmoid Disease, Hereditary

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MalaCards organs/tissues related to Desmoid Disease, Hereditary:

31
Bone, Colon, Skin

Animal Models for Desmoid Disease, Hereditary or affiliated genes

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MGI Mouse Phenotypes related to Desmoid Disease, Hereditary:

35
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:

6
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 Suite gene sharing:

(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)36
Wnt Signaling Pathway and Pluripotency36
9.1APC, CTNNB1
49.1CTNNB1, APC
59.1CTNNB1, APC
69.1APC, CTNNB1
7
Show member pathways
Wnt Signaling Pathway NetPath36
9.1CTNNB1, APC
8
Show member pathways
9.1CTNNB1, APC
9
Show member pathways
Proteasome Degradation36
Immune response Antigen presentation by MHC class I58
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 pathway36
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 pathway58
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 Suite gene sharing:

(show all 37)
idCompoundScoreTop Affiliating Genes
11-hydroxyanthraquinone439.5CTNNB1, APC
2methylazoxymethanol acetate439.5CTNNB1, APC
3samp439.5CTNNB1, APC
41,2-dimethylhydrazine439.5CTNNB1, APC
5azoxymethane439.5APC, CTNNB1
62-amino-3-methylimidazo(4,5-f)quinoline439.5CTNNB1, APC
7exisulind439.5CTNNB1, APC
8sodium bisulfite439.5APC, CTNNB1
9phip439.5CTNNB1, APC
10crcs439.5APC, CTNNB1
11sulindac43 1210.5CTNNB1, APC
12celecoxib43 59 28 49 24 1214.5CTNNB1, APC
13lithium43 49 24 1212.5APC, CTNNB1
14nocodazole43 1210.5CTNNB1, APC
15linoleic acid28 43 2411.5APC, CTNNB1
16curcumin439.5CTNNB1, APC
175-aza-2deoxycytidine439.5CTNNB1, APC
18pyruvate439.5CTNNB1, APC
19guanine43 24 1211.5APC, CTNNB1
20aspirin43 49 28 2412.5CTNNB1, APC
21vitamin d439.4CTNNB1, APC
22nmda43 2810.4APC, CTNNB1
23phospholipid439.4CTNNB1, APC
24rapamycin439.4APC, CTNNB1
25wortmannin439.4CTNNB1, APC
26glycogen43 2410.4CTNNB1, APC
27phosphoinositide439.4CTNNB1, APC
28paraffin439.4APC, CTNNB1
29gtp43 2810.3CTNNB1, APC
30glutamine439.3CTNNB1, APC
31pge2439.3APC, CTNNB1
32fatty acid439.2CTNNB1, APC
33dopamine43 28 24 1212.2APC, CTNNB1
34cycloheximide439.1CTNNB1, APC
35oligonucleotide439.1CTNNB1, APC
36progesterone43 28 59 24 1213.0CTNNB1, APC
37testosterone43 59 24 1211.8CTNNB1, APC

GO Terms for genes affiliated with Desmoid Disease, Hereditary

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Cellular components related to Desmoid Disease, Hereditary according to GeneCards Suite gene sharing:

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 Suite gene sharing:

(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 Suite gene sharing:

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet