HDD
MCID: DSM003
MIFTS: 50

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 56 29 13 6 39 71
Fif 56 12 73
Familial Infiltrative Fibromatosis 12 73
Hereditary Desmoid Disease 12 73
Fibromatosis, Familial Infiltrative; Fif 56
Fibromatosis, Familial Infiltrative 56
Desmoid Type Fibromatosis 58
Desmoid-Type Fibromatosis 17
Fibromatosis, Aggressive 71
Aggressive Fibromatosis 58
Desmoid Tumor 58
Hdd 73

Characteristics:

Orphanet epidemiological data:

58
desmoid tumor
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
desmoid disease, hereditary:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111349
OMIM 56 135290
ICD10 via Orphanet 33 D48.1
UMLS via Orphanet 72 C0079218
Orphanet 58 ORPHA873
UMLS 71 C0079218 C1851124

Summaries for Desmoid Disease, Hereditary

OMIM : 56 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 and familial adenomatous polyposis 1. 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. The drugs Fentanyl and Sorafenib have been mentioned in the context of this disorder. Affiliated tissues include breast, colon and liver, and related phenotypes are desmoid tumors and epidermoid cyst

Disease Ontology : 12 A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has material basis in in some cases by extreme 3' mutation in APC on 5q22.2.

UniProtKB/Swiss-Prot : 73 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 278)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 32.6 CTNNB1 APC
2 familial adenomatous polyposis 1 32.5 CTNNB1 APC
3 desmoid tumor 31.7 CTNNB1 APC
4 fibromatosis 31.1 CTNNB1 APC
5 adenoma 30.1 CTNNB1 APC
6 connective tissue benign neoplasm 30.1 CTNNB1 APC
7 colorectal adenoma 29.7 CTNNB1 APC
8 intrahepatic cholangiocarcinoma 29.6 CTNNB1 APC
9 cholangiocarcinoma 29.6 CTNNB1 APC
10 adenocarcinoma 29.1 CTNNB1 APC
11 colon adenocarcinoma 28.6 CTNNB1 APC
12 infantile myofibromatosis 11.3
13 hepatocellular carcinoma 10.6
14 fibrosarcoma 10.5
15 gastrointestinal stromal tumor 10.5
16 rare tumor 10.5
17 fibroma 10.4
18 mesenchymal cell neoplasm 10.4
19 hydronephrosis 10.4
20 colorectal cancer 10.3
21 intestinal obstruction 10.3
22 chromosomal triplication 10.3
23 bone sarcoma 10.3
24 ureteral obstruction 10.3
25 breast cancer 10.2
26 abdominal wall defect 10.2
27 rare soft tissue tumor 10.2
28 portal vein thrombosis 10.2
29 liver cirrhosis 10.2
30 sarcoma, synovial 10.2
31 47,xyy 10.2
32 renal cell carcinoma, nonpapillary 10.2
33 gastric cancer 10.2
34 testicular cancer 10.2
35 neurilemmoma 10.2
36 spindle cell sarcoma 10.2
37 apc-associated polyposis conditions 10.2
38 lipomatosis, multiple 10.1
39 chondrosarcoma 10.1
40 pleomorphic lipoma 10.1
41 short bowel syndrome 10.1
42 sarcoma 10.1
43 neutropenia 10.1
44 rectum cancer 10.1
45 endometriosis 10.1
46 lipomatosis 10.1
47 peripheral nervous system disease 10.1
48 peritonitis 10.1
49 neuropathy 10.1
50 down syndrome 10.1

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:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 desmoid tumors 58 31 hallmark (90%) Very frequent (99-80%) HP:0100245
2 epidermoid cyst 31 frequent (33%) HP:0200040
3 colon cancer 31 occasional (7.5%) HP:0003003
4 malabsorption 58 Frequent (79-30%)
5 abnormality of retinal pigmentation 58 Frequent (79-30%)
6 subcutaneous nodule 58 Very frequent (99-80%)
7 arthralgia 58 Occasional (29-5%)
8 abdominal pain 58 Frequent (79-30%)
9 limitation of joint mobility 58 Occasional (29-5%)
10 gastrointestinal hemorrhage 58 Occasional (29-5%)
11 osteolysis 58 Occasional (29-5%)
12 myalgia 58 Frequent (79-30%)
13 chest pain 58 Occasional (29-5%)
14 intestinal obstruction 58 Occasional (29-5%)
15 abnormality of the upper urinary tract 58 Occasional (29-5%)
16 hydronephrosis 58 Occasional (29-5%)
17 fibroma 58 Very frequent (99-80%)
18 abnormality of the musculature 58 Very frequent (99-80%)
19 neoplasm of the skin 58 Occasional (29-5%)
20 sepsis 58 Occasional (29-5%)
21 intestinal polyposis 58 Frequent (79-30%)
22 abnormality of the abdominal wall 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
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:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.83 CTNNB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.83 APC
3 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.83 APC CTNNB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.83 CTNNB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.83 APC
6 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.83 CTNNB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.83 APC
8 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.83 APC
9 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.83 CTNNB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.83 APC CTNNB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.83 CTNNB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.83 CTNNB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.83 APC CTNNB1

Drugs & Therapeutics for Desmoid Disease, Hereditary

Drugs for Desmoid Disease, Hereditary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
2
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239 406563
3 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
4 Cola Phase 3
5 Analgesics Phase 3
6 Anesthetics Phase 3
7 Liver Extracts Phase 3
8 Narcotics Phase 3
9 Anesthetics, General Phase 3
10 Analgesics, Opioid Phase 3
11 Adjuvants, Anesthesia Phase 3
12 Central Nervous System Depressants Phase 3
13 Anesthetics, Intravenous Phase 3
14 Protein Kinase Inhibitors Phase 3
15
Toremifene Approved, Investigational Phase 2 89778-26-7 3005573
16
Sodium citrate Approved, Investigational Phase 2 68-04-2
17
Sulindac Approved, Investigational Phase 2 38194-50-2 5352 1548887
18
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
19
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
20
leucovorin Approved Phase 2 58-05-9 6006 143
21
Vinblastine Approved Phase 2 865-21-4 13342 241903
22
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
23
nivolumab Approved Phase 2 946414-94-4
24
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
25
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
26
Aminolevulinic acid Approved Phase 2 106-60-5 137
27
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
28
Ipilimumab Approved Phase 2 477202-00-9
29
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
30
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
31
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
32
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
33
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
34
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
35
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
36
Imidazole Experimental, Investigational Phase 2 288-32-4 795
37 Anti-Inflammatory Agents Phase 2
38 Citrate Phase 2
39 Anticoagulants Phase 2
40 Analgesics, Non-Narcotic Phase 2
41 Anti-Inflammatory Agents, Non-Steroidal Phase 2
42 Chelating Agents Phase 2
43 Cyclooxygenase Inhibitors Phase 2
44 Calcium, Dietary Phase 2
45 Angiogenesis Inhibitors Phase 2
46 Vitamin B Complex Phase 2
47 Folic Acid Antagonists Phase 2
48 Dermatologic Agents Phase 2
49 Folate Phase 2
50 Vitamin B9 Phase 2

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
2 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial of Nirogacestat Versus Placebo in Adult Patients With Progressing Desmoid Tumors/Aggressive Fibromatosis (DT/AF) Recruiting NCT03785964 Phase 3 Nirogacestat oral tablet;Placebo Oral Tablet
3 A Phase III, Double Blind, Randomized, Placebo-Controlled Trial of Sorafenib in Desmoid Tumors or Aggressive Fibromatosis (DT/DF) Active, not recruiting NCT02066181 Phase 3 Sorafenib Tosylate
4 Toremifene in Desmoid Tumor: Prospective Clinical Trial and Identification of Potential Molecular Targets Unknown status NCT02353429 Phase 2 Toremifene
5 A Phase II Trial of Imatinib for Patients With Aggressive Desmoid Tumor (Aggressive Fibromatosis) Completed NCT02495519 Phase 2 Imatinib
6 Multicentric Phase I/II Study Evaluating the Efficacy and Toxicity of Imatinib in Adult Patients With Aggressive Fibromatosis That Cannot be Treated by Surgery or Curative Radiotherapy Completed NCT00287846 Phase 1, Phase 2 imatinib mesylate
7 Vinblastine and Methotrexate in Children With Desmoid Tumor (Aggressive Fibromatosis) Which is Recurrent or Not Amenable to Surgical Resection or Irradiation - A Pediatric Oncology Group Phase II Study Completed NCT00003019 Phase 2 methotrexate;vinblastine sulfate
8 Phase II Study to Evaluate Glivec (Imatinib Mesylate) to Induce Progression Arrest in Aggressive Fibromatosis / Desmoid Tumors Not Amenable to Surgical Resection With R0 Intent or Accompanied by Unacceptable Function Loss Completed NCT01137916 Phase 2 Imatinib
9 Phase II Pilot Study Of Moderate Dose Radiotherapy For Inoperable Aggressive Fibromatoses Completed NCT00030680 Phase 2
10 A Phase II Study of Sulindac and Tamoxifen in Patients With Desmoid Tumors That Are Recurrent or Not Amenable to Standard Therapy Completed NCT00068419 Phase 2 tamoxifen citrate;sulindac
11 PHASE II STUDY OF THE SAFETY AND EFFICACY OF TOREMIFENE IN THE THERAPY OF DESMOID TUMORS Completed NCT00002595 Phase 2 toremifene
12 A Multicenter Phase II Study of Continuous Dosing of Sunitinib (Sutent®, SU11248) in Non-GIST Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
13 Vinblastine and Methotrexate in Children With Multivessel Pulmonary Vein Stenosis-A Phase II Study Completed NCT00215046 Phase 2 Vinblastine;Methotrexate
14 A Phase 1b/2a, Open-label, Multicentre Study to Assess the Safety, Tolerability, Pharmacokinetics, and Antitumor Activity of Vactosertib in Combination With Imatinib in Patients With Advanced Desmoid Tumor (Aggressive Fibromatosis) Recruiting NCT03802084 Phase 1, Phase 2 vactosertib/imatinib combination
15 Phase II Trial of Nab-paclitaxel for the Treatment of Desmoid Tumors and Multiply Relapsed/Refractory Desmoplastic Small Round Cell Tumors and Ewing Sarcoma Recruiting NCT03275818 Phase 2 nab paclitaxel
16 The TNT Protocol: A Phase 2 Study Using Talimogene Laherparepvec,Nivolumab and Trabectedin as First, Second/Third Line Therapy for Advanced Sarcoma, Including Desmoid Tumor and Chordoma Recruiting NCT03886311 Phase 2 Talimogene Laherparepvec 100000000 PFU/1 ML Injection Suspension [IMLYGIC];Nivolumab IV Soln 100 MG/10ML;Trabectedin 0.25 MG/1 VIAL Intravenous Powder for Solution
17 A PHASE 2, SINGLE CENTRE, SINGLE ARM STUDY TO DETERMINE THE EFFICACY AND SAFETY OF 5- ALA POHOTODYNAMIC THERAPY AS ADJUVANT THERAPY AFTER SURGICAL DISSECTION IN PATIENTS WITH DESMOID TUMORS. Recruiting NCT01898416 Phase 2 5-AMINOLEVULINIC ACID (5-ALA), is a non fluorescent prodrug.
18 PAZOPANIB Efficacy and Tolerance in Desmoids Tumors : Phase 2 Clinical Trial Recruiting NCT01876082 Phase 2 PAZOPANIB treatment;Active Comparator: Vinblastine and Methotrexate
19 Doxorubicin Eluting Intra-arterial Embolization for Aggressive Desmoid Fibromatosis Recruiting NCT03966742 Phase 2
20 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
21 A Pilot Study Evaluating the Use of mTor Inhibitor Sirolimus in Children and Young Adults With Desmoid-Type Fibromatosis Active, not recruiting NCT01265030 Phase 1, Phase 2 Sirolimus
22 Phase II Trial of the Gamma-Secretase Inhibitor PF-03084014 in Adults With Desmoid Tumors/Aggressive Fibromatosis Active, not recruiting NCT01981551 Phase 2 PF-03084014
23 Open-label Trial of Imatinib in Patients With Desmoid Tumor and Chondrosarcoma Active, not recruiting NCT00928525 Phase 2 Imatinib Mesylate
24 Phase II Trial of Weekly Erlotinib Dosing to Reduce Duodenal Polyp Burden Associated With Familial Adenomatous Polyposis Active, not recruiting NCT02961374 Phase 2 Erlotinib;Erlotinib Hydrochloride
25 A Safety, Pharmacokinetic and Efficacy Study of a y-Secretase Inhibitor, Nirogacestat (PF-03084014), in Children and Adolescents With Progressive, Surgically Unresectable Desmoid Tumors Not yet recruiting NCT04195399 Phase 2 Nirogacestat
26 Effect of Hydroxyurea as Treatment for Primary Desmoid Tumors in Adults and Children (CHP-914) Withdrawn NCT00978146 Phase 2 Hydroxyurea
27 Imatinib Mesylate And Cyclophosphamide In Metronomic Administration: Dose Escalation Study Of Imatinib Mesylate in Patient With Rare Tumor (Phase I Study) Completed NCT01046487 Phase 1 Imatinib mesylate, Cyclophosphamide (Dosing level 1 );Imatinib mesylate, Cyclophosphamide (Dosing level 2);Imatinib mesylate, Cyclophosphamide (Dosing level 3)
28 A Phase I Study of an Oral Histone Deacetylase Inhibitor, MS-275, in Refractory Solid Tumors and Lymphomas Completed NCT00020579 Phase 1 entinostat
29 Phase 1 Trial of BC2059 (Tegavivint) in Patients With Unresectable Desmoid Tumor Recruiting NCT03459469 Phase 1 Tegavivint
30 A Pilot Study of Intralesional Injection of Triamcinolone Acetonide for Desmoid Tumors Recruiting NCT03627741 Phase 1 Triamcinolone Acetonide
31 Safety and Feasibility Study of Using MR-guided High Intensity Focused Ultrasound (HIFU) for the Ablation of Relapsed or Refractory Pediatric Solid Tumors Recruiting NCT02076906 Phase 1
32 Phase I Trial of Z-Endoxifen in Adults With Refractory Hormone Receptor-Positive Breast Cancer, Desmoid Tumors, Gynecologic Tumors, or Other Hormone Receptor-Positive Solid Tumors Active, not recruiting NCT01273168 Phase 1 Z-Endoxifen
33 Tailored Beta-catenin Mutational Approach in Extra-abdominal Sporadic Desmoids Tumor Patients Unknown status NCT02547831
34 In Modern Era, Recurrent Desmoids Determine Outcome in Patients With Gardner Syndrome: A Cohort Study of Three Generations of an Adenomatous Polyposis Coli (APC-) Mutation-Positive Family Across 30 Years Completed NCT01286662
35 Evaluation of the Cryodestruction of Non Abdominopelvic Desmoid Tumors in Patients Progressing Despite Medical Completed NCT02476305
36 National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis Recruiting NCT02867033
37 Optional Sub-study to Intraoperative Imaging With ICG Registry Recruiting NCT02651246
38 The Project: EveryChild Protocol: A Registry, Eligibility Screening, Biology and Outcome Study Recruiting NCT02402244
39 A COG Soft Tissue Sarcoma Diagnosis, Biology and Banking Protocol Active, not recruiting NCT00919269
40 Compassionate Use Protocol for PF-03084014 in Patients With Advanced Solid Tumor Malignancies: Continuing Study Drug Administration in Desmoid Patients Receiving Clinical Benefit No longer available NCT02955446 PF-03084014
41 Pilot Investigation of 18F-FES PET/CT Imaging of Desmoid Tumors Terminated NCT02374931 Early Phase 1 F-18 16 Alpha-Fluoroestradiol

Search 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:

40
Breast, Colon, Liver, Heart, Thyroid, Bone, Kidney

Publications for Desmoid Disease, Hereditary

Articles related to Desmoid Disease, Hereditary:

(show all 15)
# Title Authors PMID Year
1
Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene. 61 56 6
10077730 1999
2
Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. 61 56 6
8940264 1996
3
A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor. 56 6
10782927 2000
4
A novel case of a sporadic desmoid tumour with mutation of the beta catenin gene. 56 6
10655994 1999
5
Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation. 56 6
8968744 1996
6
Phenotypic variation in hereditary nonpolyposis colon cancer syndrome. Association with infiltrative fibromatosis (desmoid tumor). 56 6
1544113 1992
7
Cyclooxygenase-two (COX-2) modulates proliferation in aggressive fibromatosis (desmoid tumor). 56
11313976 2001
8
Beta-catenin accumulation and mutation of the CTNNB1 gene in hepatoblastoma. 6
10398436 1999
9
Beta-catenin mutations in hepatocellular carcinoma correlate with a low rate of loss of heterozygosity. 6
10435629 1999
10
Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the beta-catenin gene. 6
9927029 1999
11
Activation of the beta-catenin gene by interstitial deletions involving exon 3 in primary colorectal carcinomas without adenomatous polyposis coli mutations. 6
9500465 1998
12
Desmoid tumors: genotype-phenotype differences in familial adenomatous polyposis--a nosological dilemma. 56
8940262 1996
13
Somatic mutation of APC gene in desmoid tumour in familial adenomatous polyposis. 56
8102685 1993
14
Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids. 61
21931686 2011
15
Familial adenomatous polyposis. 61
16454848 2006

Variations for Desmoid Disease, Hereditary

ClinVar genetic disease variations for Desmoid Disease, Hereditary:

6 (show all 38) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APC NM_000038.6(APC):c.847C>T (p.Arg283Ter)SNV Pathogenic 184999 rs786201856 5:112151204-112151204 5:112815507-112815507
2 APC NM_000038.6(APC):c.1660C>T (p.Arg554Ter)SNV Pathogenic 807 rs137854573 5:112164586-112164586 5:112828889-112828889
3 APC NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)SNV Pathogenic 810 rs137854575 5:112174096-112174096 5:112838399-112838399
4 APC APC, 2-BP INS, CODON 1924insertion Pathogenic 818
5 APC NM_000038.5(APC):c.4575_4576ins337insertion Pathogenic 833 5:112175866-112175867 5:112840169-112840170
6 APC APC, 4-BP DEL, 7929TCTAdeletion Pathogenic 837
7 APC NM_000038.6(APC):c.637C>T (p.Arg213Ter)SNV Pathogenic 140952 rs587781392 5:112116592-112116592 5:112780895-112780895
8 APC NM_000038.6(APC):c.694C>T (p.Arg232Ter)SNV Pathogenic 42248 rs397515734 5:112128191-112128191 5:112792494-112792494
9 APC NM_000038.6(APC):c.646C>T (p.Arg216Ter)SNV Pathogenic 127312 rs62619935 5:112128143-112128143 5:112792446-112792446
10 APC NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)SNV Pathogenic 545962 rs1554085355 5:112175158-112175158 5:112839461-112839461
11 APC NM_000038.6(APC):c.5822_5825CAGA[1] (p.Asp1942fs)short repeat Pathogenic 219743 rs864622228 5:112177113-112177116 5:112841416-112841419
12 APC NM_000038.6(APC):c.70C>T (p.Arg24Ter)SNV Pathogenic/Likely pathogenic 184702 rs145945630 5:112090657-112090657 5:112754960-112754960
13 APC NM_000038.6(APC):c.1312+3A>GSNV Pathogenic/Likely pathogenic 217924 rs863225311 5:112155044-112155044 5:112819347-112819347
14 APC NM_000038.6(APC):c.933+1G>ASNV Pathogenic/Likely pathogenic 233970 rs876660765 5:112151291-112151291 5:112815594-112815594
15 APC NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)SNV Conflicting interpretations of pathogenicity 41510 rs201375478 5:112178015-112178015 5:112842318-112842318
16 APC NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)SNV Conflicting interpretations of pathogenicity 41512 rs200756935 5:112178327-112178327 5:112842630-112842630
17 APC NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)SNV Conflicting interpretations of pathogenicity 135709 rs587780600 5:112177092-112177092 5:112841395-112841395
18 APC NM_000038.6(APC):c.5363G>A (p.Arg1788His)SNV Conflicting interpretations of pathogenicity 92348 rs201472075 5:112176654-112176654 5:112840957-112840957
19 APC NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)SNV Conflicting interpretations of pathogenicity 141436 rs147287751 5:112179680-112179680 5:112843983-112843983
20 APC NM_000038.6(APC):c.6639G>A (p.Met2213Ile)SNV Conflicting interpretations of pathogenicity 141618 rs35540155 5:112177930-112177930 5:112842233-112842233
21 APC NM_000038.6(APC):c.8276G>A (p.Arg2759His)SNV Uncertain significance 141690 rs538289470 5:112179567-112179567 5:112843870-112843870
22 APC NM_000038.6(APC):c.791A>G (p.Gln264Arg)SNV Uncertain significance 411364 rs369345931 5:112137037-112137037 5:112801340-112801340
23 APC NM_000038.5(APC):c.-30430A>GSNV Uncertain significance 469859 rs554351451 5:112043211-112043211 5:112707514-112707514
24 APC NM_000038.6(APC):c.1762G>A (p.Val588Ile)SNV Uncertain significance 469719 rs372416031 5:112170666-112170666 5:112834969-112834969
25 APC NM_000038.5(APC):c.-30354G>CSNV Uncertain significance 469828 rs543098847 5:112043287-112043287 5:112707590-112707590
26 APC NM_000038.5(APC):c.-30226A>GSNV Uncertain significance 469802 rs189807660 5:112043415-112043415 5:112707718-112707718
27 APC NM_000038.6(APC):c.4847A>T (p.Lys1616Ile)SNV Uncertain significance 469979 rs1554086241 5:112176138-112176138 5:112840441-112840441
28 APC NM_000038.6(APC):c.7166G>A (p.Ser2389Asn)SNV Uncertain significance 470080 rs779287035 5:112178457-112178457 5:112842760-112842760
29 APC NM_000038.6(APC):c.6736G>A (p.Val2246Ile)SNV Uncertain significance 486735 rs1055180096 5:112178027-112178027 5:112842330-112842330
30 APC NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)SNV Uncertain significance 41530 rs143796828 5:112175663-112175663 5:112839966-112839966
31 APC NM_000038.6(APC):c.1553C>T (p.Thr518Met)SNV Uncertain significance 231917 rs371453363 5:112163630-112163630 5:112827933-112827933
32 APC NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)SNV Uncertain significance 232924 rs186641437 5:112173765-112173765 5:112838068-112838068
33 APC NM_000038.6(APC):c.5105G>A (p.Gly1702Glu)SNV Uncertain significance 184169 rs769273526 5:112176396-112176396 5:112840699-112840699
34 APC NM_000038.6(APC):c.6257C>G (p.Pro2086Arg)SNV Uncertain significance 186466 rs786202975 5:112177548-112177548 5:112841851-112841851
35 APC NM_000038.6(APC):c.1606G>A (p.Glu536Lys)SNV Uncertain significance 216151 rs138098808 5:112163683-112163683 5:112827986-112827986
36 APC NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)SNV Uncertain significance 216188 rs780049836 5:112179753-112179753 5:112844056-112844056
37 APC NM_000038.6(APC):c.607C>G (p.Gln203Glu)SNV Benign/Likely benign 41509 rs141576417 5:112116562-112116562 5:112780865-112780865
38 APC NM_000038.6(APC):c.1458T>C (p.Tyr486=)SNV Benign 42238 rs2229992 5:112162854-112162854 5:112827157-112827157

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 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.3 CTNNB1 APC
2
Show member pathways
12.26 CTNNB1 APC
3
Show member pathways
12.12 CTNNB1 APC
4
Show member pathways
12.11 CTNNB1 APC
5
Show member pathways
12.09 CTNNB1 APC
6
Show member pathways
12.04 CTNNB1 APC
7 12 CTNNB1 APC
8 11.85 CTNNB1 APC
9
Show member pathways
11.83 CTNNB1 APC
10 11.79 CTNNB1 APC
11 11.75 CTNNB1 APC
12 11.71 CTNNB1 APC
13 11.69 CTNNB1 APC
14 11.67 CTNNB1 APC
15 11.6 CTNNB1 APC
16 11.56 CTNNB1 APC
17
Show member pathways
11.56 CTNNB1 APC
18 11.54 CTNNB1 APC
19 11.5 CTNNB1 APC
20 11.33 CTNNB1 APC
21 11.24 CTNNB1 APC
22 11.09 CTNNB1 APC
23 10.98 CTNNB1 APC
24 10.89 CTNNB1 APC
25 10.63 CTNNB1 APC
26 10.34 CTNNB1 APC
27 9.88 CTNNB1 APC

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 lamellipodium GO:0030027 9.43 CTNNB1 APC
2 bicellular tight junction GO:0005923 9.4 CTNNB1 APC
3 cell-cell adherens junction GO:0005913 9.37 CTNNB1 APC
4 adherens junction GO:0005912 9.32 CTNNB1 APC
5 lateral plasma membrane GO:0016328 9.26 CTNNB1 APC
6 catenin complex GO:0016342 9.16 CTNNB1 APC
7 beta-catenin destruction complex GO:0030877 8.96 CTNNB1 APC
8 Wnt signalosome GO:1990909 8.62 CTNNB1 APC

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 CTNNB1 APC
2 positive regulation of apoptotic process GO:0043065 9.32 CTNNB1 APC
3 Wnt signaling pathway GO:0016055 9.26 CTNNB1 APC
4 regulation of cell differentiation GO:0045595 9.16 CTNNB1 APC
5 cell fate specification GO:0001708 8.96 CTNNB1 APC
6 beta-catenin destruction complex disassembly GO:1904886 8.62 CTNNB1 APC

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

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 8.62 CTNNB1 APC

Sources for Desmoid Disease, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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