MCID: DSM003
MIFTS: 40

Desmoid Disease, Hereditary

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Desmoid Disease, Hereditary

MalaCards integrated aliases for Desmoid Disease, Hereditary:

Name: Desmoid Disease, Hereditary 53 28 13 69
Fif 53 71
Fibromatosis, Familial Infiltrative; Fif 53
Fibromatosis, Familial Infiltrative 53
Familial Infiltrative Fibromatosis 71
Hereditary Desmoid Disease 71
Desmoid Type Fibromatosis 55
Fibromatosis, Aggressive 69
Aggressive Fibromatosis 55
Desmoid Tumor 55
Hdd 71

Characteristics:

Orphanet epidemiological data:

55
desmoid tumor
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
desmoid disease, hereditary:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 135290
Orphanet 55 ORPHA873
UMLS via Orphanet 70 C0079218
ICD10 via Orphanet 33 D48.1

Summaries for Desmoid Disease, Hereditary

OMIM : 53 Hereditary desmoid disease usually presents as an extraintestinal manifestation of familial adenomatous polyposis (FAP; 175100), also known as Gardner syndrome, which is an autosomal dominant disorder caused by germline mutation in the APC gene. The desmoid tumors are usually intraabdominal and, although benign, can be locally aggressive and result in significant morbidity. Desmoid tumors can also arise sporadically (Couture et al., 2000). (135290)

MalaCards based summary : Desmoid Disease, Hereditary, also known as fif, is related to desmoid tumor and fibromatosis, and has symptoms including desmoid tumors, arthralgia and myalgia. An important gene associated with Desmoid Disease, Hereditary is APC (APC, WNT Signaling Pathway Regulator), and among its related pathways/superpathways are Gastric cancer and Development HGF signaling pathway. Affiliated tissues include colon and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 71 Hereditary desmoid disease: Autosomal dominant trait with 100% penetrance and possible variable expression among affected relatives. HDD patients show multifocal fibromatosis of the paraspinal muscles, breast, occiput, arms, lower ribs, abdominal wall, and mesentery. Desmoid tumors appears also as a complication of familial adenomatous polyposis.

Related Diseases for Desmoid Disease, Hereditary

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



Diseases related to Desmoid Disease, Hereditary

Symptoms & Phenotypes for Desmoid Disease, Hereditary

Symptoms via clinical synopsis from OMIM:

53
GI:
infiltrative fibromatosis of mesentery

Oncology:
predisposed to desmoid tumor
? predisposed to colon cancer


Clinical features from OMIM:

135290

Human phenotypes related to Desmoid Disease, Hereditary:

55 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 desmoid tumors 55 31 hallmark (90%) Very frequent (99-80%) HP:0100245
2 arthralgia 55 Occasional (29-5%)
3 myalgia 55 Frequent (79-30%)
4 chest pain 55 Occasional (29-5%)
5 abdominal pain 55 Frequent (79-30%)
6 malabsorption 55 Frequent (79-30%)
7 abnormality of retinal pigmentation 55 Frequent (79-30%)
8 subcutaneous nodule 55 Very frequent (99-80%)
9 limitation of joint mobility 55 Occasional (29-5%)
10 intestinal obstruction 55 Occasional (29-5%)
11 abnormality of the upper urinary tract 55 Occasional (29-5%)
12 colon cancer 31 occasional (7.5%) HP:0003003
13 fibroma 55 Very frequent (99-80%)
14 abnormality of the musculature 55 Very frequent (99-80%)
15 gastrointestinal hemorrhage 55 Occasional (29-5%)
16 neoplasm of the skin 55 Occasional (29-5%)
17 sepsis 55 Occasional (29-5%)
18 osteolysis 55 Occasional (29-5%)
19 hydronephrosis 55 Occasional (29-5%)
20 intestinal polyposis 55 Frequent (79-30%)
21 abnormality of the abdominal wall 55 Very frequent (99-80%)
22 epidermoid cyst 31 frequent (33%) HP:0200040

GenomeRNAi Phenotypes related to Desmoid Disease, Hereditary according to GeneCards Suite gene sharing:

25 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.85 CTNNB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.85 CTNNB1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.85 APC
4 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.85 CTNNB1 APC
5 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.85 APC
6 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.85 CTNNB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.85 APC
8 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.85 APC
9 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.85 CTNNB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.85 CTNNB1 APC
11 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.85 CTNNB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.85 CTNNB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.85 CTNNB1 APC
14 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.85 CTNNB1
15 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.96 CTNNB1 APC

Drugs & Therapeutics for Desmoid Disease, Hereditary

Search Clinical Trials , NIH Clinical Center for Desmoid Disease, Hereditary

Genetic Tests for Desmoid Disease, Hereditary

Genetic tests related to Desmoid Disease, Hereditary:

# Genetic test Affiliating Genes
1 Desmoid Disease, Hereditary 28 APC

Anatomical Context for Desmoid Disease, Hereditary

MalaCards organs/tissues related to Desmoid Disease, Hereditary:

38
Colon, Skin

Publications for Desmoid Disease, Hereditary

Articles related to Desmoid Disease, Hereditary:

# Title Authors Year
1
FIF [fibroblast growth factor-2 (FGF-2)-interacting-factor], a nuclear putatively antiapoptotic factor, interacts specifically with FGF-2. ( 11075807 )
2000
2
Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation. ( 8968744 )
1996

Variations for Desmoid Disease, Hereditary

ClinVar genetic disease variations for Desmoid Disease, Hereditary:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 APC APC, 2-BP INS, CODON 1924 insertion Pathogenic
2 APC NM_000038.5(APC): c.4575_4576ins337 (p.?) insertion Pathogenic GRCh38 Chromosome 5, 112840169: 112840170
3 APC APC, 4-BP DEL, 7929TCTA deletion Pathogenic
4 APC NM_000038.5(APC): c.5826_5829delCAGA (p.Asp1942Glufs) deletion Pathogenic rs864622228 GRCh38 Chromosome 5, 112841420: 112841423

Expression for Desmoid Disease, Hereditary

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

Pathways for Desmoid Disease, Hereditary

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

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.31 APC CTNNB1
2
Show member pathways
12.27 APC CTNNB1
3
Show member pathways
12.14 APC CTNNB1
4
Show member pathways
12.13 APC CTNNB1
5
Show member pathways
12.11 APC CTNNB1
6
Show member pathways
12.06 APC CTNNB1
7 12.02 APC CTNNB1
8 12.02 APC CTNNB1
9
Show member pathways
11.97 APC CTNNB1
10
Show member pathways
11.87 APC CTNNB1
11 11.86 APC CTNNB1
12
Show member pathways
11.82 APC CTNNB1
13 11.8 APC CTNNB1
14 11.75 APC CTNNB1
15 11.71 APC CTNNB1
16 11.69 APC CTNNB1
17 11.67 APC CTNNB1
18 11.6 APC CTNNB1
19 11.56 APC CTNNB1
20
Show member pathways
11.56 APC CTNNB1
21 11.54 APC CTNNB1
22 11.5 APC CTNNB1
23 11.33 APC CTNNB1
24 11.24 APC CTNNB1
25 11.09 APC CTNNB1
26 10.98 APC CTNNB1
27 10.89 APC CTNNB1
28 10.63 APC CTNNB1
29 10.34 APC CTNNB1
30 9.88 APC CTNNB1

GO Terms for Desmoid Disease, Hereditary

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

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.46 APC CTNNB1
2 lamellipodium GO:0030027 9.43 APC CTNNB1
3 bicellular tight junction GO:0005923 9.4 APC CTNNB1
4 cell-cell adherens junction GO:0005913 9.37 APC CTNNB1
5 adherens junction GO:0005912 9.32 APC CTNNB1
6 lateral plasma membrane GO:0016328 9.26 APC CTNNB1
7 beta-catenin destruction complex GO:0030877 9.16 APC CTNNB1
8 catenin complex GO:0016342 8.96 APC CTNNB1
9 Wnt signalosome GO:1990909 8.62 APC CTNNB1

Biological processes related to Desmoid Disease, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.37 APC CTNNB1
2 positive regulation of apoptotic process GO:0043065 9.32 APC CTNNB1
3 Wnt signaling pathway GO:0016055 9.26 APC CTNNB1
4 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.16 APC CTNNB1
5 canonical Wnt signaling pathway GO:0060070 8.96 APC CTNNB1
6 beta-catenin destruction complex disassembly GO:1904886 8.62 APC CTNNB1

Molecular functions related to Desmoid Disease, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 8.96 APC CTNNB1
2 cadherin binding GO:0045296 8.62 APC CTNNB1

Sources for Desmoid Disease, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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