MCID: DSM003
MIFTS: 39

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 57 29 13 6 40 73
Fif 57 75
Fibromatosis, Familial Infiltrative; Fif 57
Fibromatosis, Familial Infiltrative 57
Familial Infiltrative Fibromatosis 75
Hereditary Desmoid Disease 75
Desmoid Type Fibromatosis 59
Fibromatosis, Aggressive 73
Aggressive Fibromatosis 59
Desmoid Tumor 59
Hdd 75

Characteristics:

Orphanet epidemiological data:

59
desmoid tumor
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
desmoid disease, hereditary:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 135290
Orphanet 59 ORPHA873
UMLS via Orphanet 74 C0079218
ICD10 via Orphanet 34 D48.1

Summaries for Desmoid Disease, Hereditary

OMIM : 57 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. 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 breast, colon and skin, and related phenotypes are desmoid tumors and malabsorption

UniProtKB/Swiss-Prot : 75 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:

57
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:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 desmoid tumors 59 32 hallmark (90%) Very frequent (99-80%) HP:0100245
2 malabsorption 59 Frequent (79-30%)
3 abnormality of retinal pigmentation 59 Frequent (79-30%)
4 subcutaneous nodule 59 Very frequent (99-80%)
5 arthralgia 59 Occasional (29-5%)
6 abdominal pain 59 Frequent (79-30%)
7 limitation of joint mobility 59 Occasional (29-5%)
8 myalgia 59 Frequent (79-30%)
9 intestinal obstruction 59 Occasional (29-5%)
10 abnormality of the upper urinary tract 59 Occasional (29-5%)
11 colon cancer 32 occasional (7.5%) HP:0003003
12 fibroma 59 Very frequent (99-80%)
13 abnormality of the musculature 59 Very frequent (99-80%)
14 gastrointestinal hemorrhage 59 Occasional (29-5%)
15 chest pain 59 Occasional (29-5%)
16 neoplasm of the skin 59 Occasional (29-5%)
17 sepsis 59 Occasional (29-5%)
18 osteolysis 59 Occasional (29-5%)
19 hydronephrosis 59 Occasional (29-5%)
20 intestinal polyposis 59 Frequent (79-30%)
21 abnormality of the abdominal wall 59 Very frequent (99-80%)
22 epidermoid cyst 32 frequent (33%) HP:0200040

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

26 (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 29 APC

Anatomical Context for Desmoid Disease, Hereditary

MalaCards organs/tissues related to Desmoid Disease, Hereditary:

41
Breast, Colon, Skin

Publications for Desmoid Disease, Hereditary

Articles related to Desmoid Disease, Hereditary:

# Title Authors Year
1
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 NM_000038.5(APC): c.4575_4576ins337 (p.?) insertion Pathogenic GRCh37 Chromosome 5, 112175866: 112175867
4 APC APC, 4-BP DEL, 7929TCTA deletion Pathogenic
5 APC NM_000038.5(APC): c.6257C> G (p.Pro2086Arg) single nucleotide variant Uncertain significance rs786202975 GRCh37 Chromosome 5, 112177548: 112177548
6 APC NM_000038.5(APC): c.6257C> G (p.Pro2086Arg) single nucleotide variant Uncertain significance rs786202975 GRCh38 Chromosome 5, 112841851: 112841851
7 APC NM_000038.5(APC): c.5826_5829delCAGA (p.Asp1942Glufs) deletion Pathogenic rs864622228 GRCh38 Chromosome 5, 112841420: 112841423
8 APC NM_000038.5(APC): c.5826_5829delCAGA (p.Asp1942Glufs) deletion Pathogenic rs864622228 GRCh37 Chromosome 5, 112177117: 112177120

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 29)
# 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
12.12 APC CTNNB1
5
Show member pathways
12.1 APC CTNNB1
6
Show member pathways
12.06 APC CTNNB1
7 12.01 APC CTNNB1
8
Show member pathways
11.88 APC CTNNB1
9 11.86 APC CTNNB1
10 11.81 APC CTNNB1
11 11.76 APC CTNNB1
12
Show member pathways
11.75 APC CTNNB1
13 11.71 APC CTNNB1
14 11.69 APC CTNNB1
15 11.67 APC CTNNB1
16 11.6 APC CTNNB1
17
Show member pathways
11.56 APC CTNNB1
18
Show member pathways
11.56 APC CTNNB1
19 11.54 APC CTNNB1
20 11.5 APC CTNNB1
21 11.33 APC CTNNB1
22 11.24 APC CTNNB1
23 11.24 APC CTNNB1
24 11.09 APC CTNNB1
25 10.98 APC CTNNB1
26 10.89 APC CTNNB1
27 10.63 APC CTNNB1
28 10.34 APC CTNNB1
29 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 catenin complex GO:0016342 9.16 APC CTNNB1
8 beta-catenin destruction complex GO:0030877 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 9.46 APC CTNNB1
2 cell proliferation GO:0008283 9.43 APC CTNNB1
3 positive regulation of apoptotic process GO:0043065 9.4 APC CTNNB1
4 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.37 APC CTNNB1
5 Wnt signaling pathway GO:0016055 9.32 APC CTNNB1
6 canonical Wnt signaling pathway GO:0060070 9.26 APC CTNNB1
7 regulation of cell differentiation GO:0045595 9.16 APC CTNNB1
8 beta-catenin destruction complex disassembly GO:1904886 8.96 APC CTNNB1
9 cell fate specification GO:0001708 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 9.16 APC CTNNB1
2 cadherin binding GO:0045296 8.96 APC CTNNB1
3 binding GO:0005488 8.62 APC CTNNB1

Sources for Desmoid Disease, Hereditary

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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