HDD
MCID: DSM003
MIFTS: 44

Desmoid Disease, Hereditary (HDD)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Desmoid Disease, Hereditary

MalaCards integrated aliases for Desmoid Disease, Hereditary:

Name: Desmoid Disease, Hereditary 58 30 13 6 41 74
Fif 58 76
Fibromatosis, Familial Infiltrative; Fif 58
Fibromatosis, Familial Infiltrative 58
Familial Infiltrative Fibromatosis 76
Hereditary Desmoid Disease 76
Desmoid Type Fibromatosis 60
Fibromatosis, Aggressive 74
Aggressive Fibromatosis 60
Desmoid Tumor 60
Hdd 76

Characteristics:

Orphanet epidemiological data:

60
desmoid tumor
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
desmoid disease, hereditary:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 135290
ICD10 via Orphanet 35 D48.1
UMLS via Orphanet 75 C0079218
Orphanet 60 ORPHA873

Summaries for Desmoid Disease, Hereditary

OMIM : 58 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 familial adenomatous polyposis 1 and familial adenomatous polyposis. An important gene associated with Desmoid Disease, Hereditary is APC (APC Regulator Of WNT Signaling Pathway), 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 epidermoid cyst

UniProtKB/Swiss-Prot : 76 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

Diseases related to Desmoid Disease, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 1 32.4 CTNNB1 APC
2 familial adenomatous polyposis 32.2 CTNNB1 APC
3 desmoid tumor 31.7 CTNNB1 APC
4 fibromatosis 29.6 CTNNB1 APC
5 thyroid cancer 29.0 CTNNB1 APC
6 infantile myofibromatosis 11.2
7 hepatocellular carcinoma 10.4
8 gastrointestinal stromal tumor 10.3
9 sarcoma 10.2
10 benign childhood occipital epilepsy, panayiotopoulos type 10.1
11 breast cancer 10.1
12 gastric cancer 10.1
13 fibrosarcoma 10.1
14 down syndrome 10.1
15 cholangiocarcinoma 10.1
16 inflammatory myofibroblastic tumor 10.1
17 splenic artery aneurysm 10.1
18 pseudosarcomatous fibromatosis 10.1
19 psoriasis 10.1
20 fasciitis 10.1
21 degos 'en cocarde' erythrokeratoderma 10.1
22 colorectal cancer 10.0
23 lung cancer 10.0
24 chondrosarcoma 10.0
25 fibroma 10.0
26 malignant fibroxanthoma 10.0
27 histiocytoma 10.0
28 fibrous histiocytoma 10.0
29 abdominal wall defect 10.0
30 adenoma 9.9 CTNNB1 APC
31 intussusception 9.9
32 langerhans cell histiocytosis 9.9
33 keloids 9.9
34 ossifying fibroma 9.9
35 histiocytosis 9.9
36 congenital fibrosarcoma 9.9
37 diabetes insipidus 9.9
38 dysphagia 9.9
39 bladder cancer 9.9
40 diabetes mellitus, noninsulin-dependent 9.9
41 multiple sclerosis 9.9
42 leiomyoma, uterine 9.9
43 pheochromocytoma 9.9
44 thyroid cancer, nonmedullary, 1 9.9
45 testicular germ cell tumor 9.9
46 testicular germ cell tumor 1 9.9
47 wilms tumor 5 9.9
48 wilms tumor 6 9.9
49 breast reconstruction 9.9
50 pemphigus foliaceus 9.9

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



Diseases related to Desmoid Disease, Hereditary

Symptoms & Phenotypes for Desmoid Disease, Hereditary

Human phenotypes related to Desmoid Disease, Hereditary:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 desmoid tumors 60 33 hallmark (90%) Very frequent (99-80%) HP:0100245
2 epidermoid cyst 33 frequent (33%) HP:0200040
3 colon cancer 33 occasional (7.5%) HP:0003003
4 malabsorption 60 Frequent (79-30%)
5 abnormality of retinal pigmentation 60 Frequent (79-30%)
6 subcutaneous nodule 60 Very frequent (99-80%)
7 arthralgia 60 Occasional (29-5%)
8 abdominal pain 60 Frequent (79-30%)
9 limitation of joint mobility 60 Occasional (29-5%)
10 myalgia 60 Frequent (79-30%)
11 intestinal obstruction 60 Occasional (29-5%)
12 abnormality of the upper urinary tract 60 Occasional (29-5%)
13 fibroma 60 Very frequent (99-80%)
14 abnormality of the musculature 60 Very frequent (99-80%)
15 gastrointestinal hemorrhage 60 Occasional (29-5%)
16 chest pain 60 Occasional (29-5%)
17 neoplasm of the skin 60 Occasional (29-5%)
18 sepsis 60 Occasional (29-5%)
19 osteolysis 60 Occasional (29-5%)
20 hydronephrosis 60 Occasional (29-5%)
21 intestinal polyposis 60 Frequent (79-30%)
22 abnormality of the abdominal wall 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
G I:
infiltrative fibromatosis of mesentery

Oncology:
predisposed to desmoid tumor
? predisposed to colon cancer

Clinical features from OMIM:

135290

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

27 (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 APC CTNNB1
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 APC CTNNB1
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 APC CTNNB1
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 APC CTNNB1

MGI Mouse Phenotypes related to Desmoid Disease, Hereditary:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 APC CTNNB1

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 30 APC

Anatomical Context for Desmoid Disease, Hereditary

MalaCards organs/tissues related to Desmoid Disease, Hereditary:

42
Breast, Colon, Skin, Liver

Publications for Desmoid Disease, Hereditary

Articles related to Desmoid Disease, Hereditary:

# Title Authors Year
1
Transitional journeys into, and through medical education for First-in-Family (FiF) students: a qualitative interview study. ( 29743061 )
2018
2
Automated Field-In-Field (FIF) Plan Framework Combining Scripting Application Programming Interface and User-Executed Program for Breast Forward IMRT. ( 30384804 )
2018
3
Dosimetric comparison of intensity modulated radiotherapy isocentric field plans and field in field (FIF) forward plans in the treatment of breast cancer. ( 23531607 )
2013
4
Apoptosis inhibitor 5 (API-5; AAC-11; FIF) is upregulated in human carcinomas in vivo. ( 22741017 )
2012
5
Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation. ( 8968744 )
1996
6
A comparison of JPEG and FIF compression of color medical images for dermatology. ( 7954310 )
1994
7
Simultaneous demonstration of catecholamines and phenylethanolamine-N-methyltransferase in the same tissue section by means of formaldehyde-induced fluorescence (FIF) and tetramethyl-rhodamine-isothiocyanate (MRITC) immunofluorescence. ( 6755083 )
1982
8
Colony forming cells in the livers of prenatal flexed (fif) anaemic mice. ( 4554433 )
1972

Variations for Desmoid Disease, Hereditary

ClinVar genetic disease variations for Desmoid Disease, Hereditary:

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 APC NM_000038.5(APC): c.6257C> G (p.Pro2086Arg) single nucleotide variant Uncertain significance rs786202975 GRCh37 Chromosome 5, 112177548: 112177548
2 APC NM_000038.5(APC): c.6257C> G (p.Pro2086Arg) single nucleotide variant Uncertain significance rs786202975 GRCh38 Chromosome 5, 112841851: 112841851
3 APC NM_000038.5(APC): c.5826_5829delCAGA (p.Asp1942Glufs) deletion Pathogenic rs864622228 GRCh38 Chromosome 5, 112841420: 112841423
4 APC NM_000038.5(APC): c.5826_5829delCAGA (p.Asp1942Glufs) deletion Pathogenic rs864622228 GRCh37 Chromosome 5, 112177117: 112177120
5 APC APC, 2-BP INS, CODON 1924 insertion Pathogenic
6 APC NM_001127510.2(APC): c.4575_4576ins337 (p.?) insertion Pathogenic GRCh38 Chromosome 5, 112840169: 112840170
7 APC NM_001127510.2(APC): c.4575_4576ins337 (p.?) insertion Pathogenic GRCh37 Chromosome 5, 112175866: 112175867
8 APC APC, 4-BP DEL, 7929TCTA deletion Pathogenic
9 APC NM_000038.5(APC): c.607C> G (p.Gln203Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs141576417 GRCh37 Chromosome 5, 112116562: 112116562
10 APC NM_000038.5(APC): c.607C> G (p.Gln203Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs141576417 GRCh38 Chromosome 5, 112780865: 112780865
11 APC NM_000038.5(APC): c.6724A> G (p.Ser2242Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201375478 GRCh37 Chromosome 5, 112178015: 112178015
12 APC NM_000038.5(APC): c.6724A> G (p.Ser2242Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201375478 GRCh38 Chromosome 5, 112842318: 112842318
13 APC NM_000038.5(APC): c.7036C> T (p.Pro2346Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200756935 GRCh37 Chromosome 5, 112178327: 112178327
14 APC NM_000038.5(APC): c.7036C> T (p.Pro2346Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200756935 GRCh38 Chromosome 5, 112842630: 112842630
15 APC NM_000038.5(APC): c.4372C> T (p.Pro1458Ser) single nucleotide variant Uncertain significance rs143796828 GRCh37 Chromosome 5, 112175663: 112175663
16 APC NM_000038.5(APC): c.4372C> T (p.Pro1458Ser) single nucleotide variant Uncertain significance rs143796828 GRCh38 Chromosome 5, 112839966: 112839966
17 APC NM_000038.5(APC): c.1458T> C (p.Tyr486=) single nucleotide variant Benign rs2229992 GRCh37 Chromosome 5, 112162854: 112162854
18 APC NM_000038.5(APC): c.1458T> C (p.Tyr486=) single nucleotide variant Benign rs2229992 GRCh38 Chromosome 5, 112827157: 112827157
19 APC NM_000038.5(APC): c.1458T> C (p.Tyr486=) single nucleotide variant Benign rs2229992 NCBI36 Chromosome 5, 112190753: 112190753
20 APC NM_000038.5(APC): c.8389A> G (p.Ser2797Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147287751 GRCh37 Chromosome 5, 112179680: 112179680
21 APC NM_000038.5(APC): c.8389A> G (p.Ser2797Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147287751 GRCh38 Chromosome 5, 112843983: 112843983

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
12.1 APC CTNNB1
4
Show member pathways
12.07 APC CTNNB1
5
Show member pathways
12.06 APC CTNNB1
6 12.01 APC CTNNB1
7 11.95 APC CTNNB1
8
Show member pathways
11.94 APC CTNNB1
9
Show member pathways
11.88 APC CTNNB1
10 11.86 APC CTNNB1
11 11.81 APC CTNNB1
12 11.77 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 11.56 APC CTNNB1
19
Show member pathways
11.56 APC CTNNB1
20 11.54 APC CTNNB1
21 11.5 APC CTNNB1
22 11.33 APC CTNNB1
23 11.25 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 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 9.37 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 regulation of cell differentiation GO:0045595 9.16 APC CTNNB1
5 beta-catenin destruction complex disassembly GO:1904886 8.96 APC CTNNB1
6 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 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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