DESMD
MCID: DSM003
MIFTS: 48

Desmoid Disease, Hereditary (DESMD)

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 43 39 71
Hereditary Desmoid Disease 12 73 15
Fif 56 12 73
Familial Infiltrative Fibromatosis 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
Desmd 56
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
MeSH 43 C535944
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 hereditary desmoid disease, 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 Deactivation of the beta-catenin transactivating complex and Regulation of Wnt/B-catenin Signaling by Small Molecule Compounds. 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:

(showing 258, show less)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 12.0
2 familial adenomatous polyposis 1 11.9
3 desmoid tumor 11.4
4 infantile myofibromatosis 11.3
5 fibromatosis 11.0
6 hepatocellular carcinoma 10.6
7 fibrosarcoma 10.5
8 gastrointestinal stromal tumor 10.5
9 rare tumor 10.5
10 fibroma 10.4
11 mesenchymal cell neoplasm 10.4
12 hydronephrosis 10.4
13 colorectal cancer 10.3
14 connective tissue benign neoplasm 10.3
15 adenoma 10.3
16 intestinal obstruction 10.3
17 chromosomal triplication 10.3
18 bone sarcoma 10.3
19 ureteral obstruction 10.3
20 breast cancer 10.2
21 abdominal wall defect 10.2
22 rare soft tissue tumor 10.2
23 portal vein thrombosis 10.2
24 liver cirrhosis 10.2
25 sarcoma, synovial 10.2
26 spindle cell sarcoma 10.2
27 47,xyy 10.2
28 renal cell carcinoma, nonpapillary 10.2
29 gastric cancer 10.2
30 colorectal adenoma 10.2
31 sarcoma 10.2
32 testicular cancer 10.2
33 neurilemmoma 10.2
34 apc-associated polyposis conditions 10.2
35 lipomatosis, multiple 10.1
36 chondrosarcoma 10.1
37 pleomorphic lipoma 10.1
38 short bowel syndrome 10.1
39 neutropenia 10.1
40 rectum cancer 10.1
41 endometriosis 10.1
42 lipomatosis 10.1
43 peripheral nervous system disease 10.1
44 peritonitis 10.1
45 neuropathy 10.1
46 soft tissue sarcoma 10.1
47 thyroid carcinoma, familial medullary 10.1
48 down syndrome 10.1
49 cholangiocarcinoma 10.1
50 umbilical hernia 10.1
51 myxofibrosarcoma 10.1
52 cholelithiasis 10.1
53 obstructive jaundice 10.1
54 splenic artery aneurysm 10.1
55 adenosarcoma 10.1
56 bilirubin metabolic disorder 10.1
57 embryonal rhabdomyosarcoma 10.1
58 thyroid gland medullary carcinoma 10.1
59 endometrial stromal sarcoma 10.1
60 smooth muscle tumor 10.1
61 pustulosis of palm and sole 10.1
62 intrahepatic cholangiocarcinoma 10.1
63 childhood leukemia 10.1
64 ileus 10.1
65 psoriasis 10.1
66 neurofibroma 10.1
67 stomatitis 10.1
68 uterine sarcoma 10.1
69 aneurysm 10.1
70 igg4-related mesenteritis 10.1
71 mucositis 10.0
72 pseudosarcomatous fibromatosis 10.0
73 bladder cancer 10.0
74 epidermoid cysts 10.0
75 scoliosis 10.0
76 leiomyoma 10.0
77 malignant fibrous histiocytoma 10.0
78 leiomyosarcoma 10.0
79 intestinal perforation 10.0
80 hemangioma 10.0
81 papilloma 10.0
82 kidney cancer 10.0
83 teratoma 10.0
84 liposarcoma 10.0
85 duodenal obstruction 10.0
86 fibrous histiocytoma 10.0
87 seminoma 10.0
88 appendicitis 10.0
89 congenital fibrosarcoma 10.0
90 testicular seminoma 10.0
91 dysphagia 10.0
92 intestinal polyposis syndrome 10.0
93 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 10.0 LINC01554 AIFM1
94 hemophilia b 9.9
95 polyposis syndrome, hereditary mixed, 1 9.9
96 hemophilia 9.9
97 intussusception 9.9
98 hemihyperplasia, isolated 9.9
99 lymphoma, hodgkin, classic 9.9
100 pituitary hormone deficiency, combined, 2 9.9
101 langerhans cell histiocytosis 9.9
102 hypertrophic scars 9.9
103 multinodular goiter 9.9
104 inflammatory myofibroblastic tumor 9.9
105 idiopathic scoliosis 9.9
106 horner's syndrome 9.9
107 goiter 9.9
108 ossifying fibroma 9.9
109 impotence 9.9
110 blepharochalasis 9.9
111 mastocytosis 9.9
112 perineurioma 9.9
113 pituitary gland disease 9.9
114 lymphopenia 9.9
115 follicular adenoma 9.9
116 follicular dendritic cell sarcoma 9.9
117 compartment syndrome 9.9
118 diabetes insipidus 9.9
119 samd9l-related ataxia-pancytopenia syndrome 9.9
120 48,xyyy 9.9
121 familial tumoral calcinosis 9.9
122 ledderhose disease 9.9
123 core binding factor acute myeloid leukemia 9.9
124 superficial fibromatosis 9.9
125 overgrowth syndrome 9.9
126 dupuytren contracture 9.9
127 fibrosis of extraocular muscles, congenital, 1 9.9
128 leiomyoma, uterine 9.9
129 leukemia, chronic lymphocytic 9.9
130 melorheostosis, isolated 9.9
131 pheochromocytoma 9.9
132 polyposis of gastric fundus without polyposis coli 9.9
133 popliteal cyst 9.9
134 prostate cancer 9.9
135 thrombophilia due to thrombin defect 9.9
136 thyroid cancer, nonmedullary, 1 9.9
137 triiodothyronine receptor auxiliary protein 9.9
138 lung cancer 9.9
139 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
140 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
141 osteogenic sarcoma 9.9
142 testicular germ cell tumor 9.9
143 wilms tumor 5 9.9
144 desmosterolosis 9.9
145 becker nevus syndrome 9.9
146 meningioma, radiation-induced 9.9
147 meningioma, familial 9.9
148 dermatofibrosarcoma protuberans 9.9
149 endometrial cancer 9.9
150 lung cancer susceptibility 3 9.9
151 colorectal cancer 8 9.9
152 familial adenomatous polyposis 4 9.9
153 spastic paraplegia, intellectual disability, nystagmus, and obesity 9.9
154 tendinopathy 9.9
155 tendinitis 9.9
156 exanthem 9.9
157 inflammatory bowel disease 9.9
158 autosomal recessive disease 9.9
159 paraganglioma 9.9
160 adrenal gland pheochromocytoma 9.9
161 ductal carcinoma in situ 9.9
162 brain meningioma 9.9
163 ptosis 9.9
164 hereditary lymphedema i 9.9
165 fibrous dysplasia 9.9
166 non-alcoholic steatohepatitis 9.9
167 lactocele 9.9
168 portal hypertension 9.9
169 respiratory failure 9.9
170 arteriovenous malformation 9.9
171 pneumocystosis 9.9
172 spinal meningioma 9.9
173 infant gynecomastia 9.9
174 gastroparesis 9.9
175 leukemia 9.9
176 acoustic neuroma 9.9
177 gynecomastia 9.9
178 jejunal cancer 9.9
179 squamous cell papilloma 9.9
180 facial paralysis 9.9
181 estrogen excess 9.9
182 pneumothorax 9.9
183 heart septal defect 9.9
184 squamous cell carcinoma 9.9
185 vascular disease 9.9
186 islet cell tumor 9.9
187 calcinosis 9.9
188 atrial heart septal defect 9.9
189 rectum adenocarcinoma 9.9
190 ascending colon cancer 9.9
191 granular cell tumor 9.9
192 sensory peripheral neuropathy 9.9
193 myoma 9.9
194 laryngeal squamous cell carcinoma 9.9
195 adenocarcinoma 9.9
196 acute kidney failure 9.9
197 astrocytoma 9.9
198 cystadenocarcinoma 9.9
199 rhabdomyosarcoma 9.9
200 juxtacortical osteosarcoma 9.9
201 histiocytosis 9.9
202 mammary paget's disease 9.9
203 cellulitis 9.9
204 mucinous cystadenocarcinoma 9.9
205 pulmonary fibrosis 9.9
206 arthropathy 9.9
207 pancreatic adenocarcinoma 9.9
208 systemic scleroderma 9.9
209 melorheostosis 9.9
210 myofibroma 9.9
211 secretory meningioma 9.9
212 lymphoplasmacyte-rich meningioma 9.9
213 foramen magnum meningioma 9.9
214 essential tremor 9.9
215 ovarian cyst 9.9
216 urinary tract obstruction 9.9
217 infertility 9.9
218 hemangioblastoma 9.9
219 testicular germ cell cancer 9.9
220 mature teratoma 9.9
221 fibromyalgia 9.9
222 peroneal nerve paralysis 9.9
223 osteochondrosis 9.9
224 mediastinitis 9.9
225 osteochondritis dissecans 9.9
226 hodgkin's lymphoma, lymphocytic-histiocytic predominance 9.9
227 neurofibromatosis 9.9
228 in situ carcinoma 9.9
229 crohn's disease 9.9
230 lymphangitis 9.9
231 exophthalmos 9.9
232 fatty liver disease 9.9
233 pulmonary embolism 9.9
234 fasciitis 9.9
235 trichinosis 9.9
236 alopecia 9.9
237 muscular dystrophy 9.9
238 eosinophilia-myalgia syndrome 9.9
239 hypereosinophilic syndrome 9.9
240 keloid disorder 9.9
241 limb-girdle muscular dystrophy 9.9
242 germ cells tumors 9.9
243 mycobacterium abscessus 9.9
244 mycobacterium fortuitum 9.9
245 myh-associated polyposis 9.9
246 primary bone cancer 9.9
247 pulmonary sequestration 9.9
248 retroperitoneal fibrosis 9.9
249 back pain 9.9
250 chronic pain 9.9
251 paresthesia 9.9
252 tremor 9.9
253 mixed germ cell tumor 9.9
254 low-grade astrocytoma 9.9
255 avascular necrosis 9.9
256 pik3ca-related overgrowth syndrome 9.9
257 pheochromocytoma-paraganglioma 9.9
258 thyroid carcinoma 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:

58 31 (showing 22, show less)
# 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 gastrointestinal hemorrhage 58 Occasional (29-5%)
10 osteolysis 58 Occasional (29-5%)
11 myalgia 58 Frequent (79-30%)
12 chest pain 58 Occasional (29-5%)
13 fibroma 58 Very frequent (99-80%)
14 hydronephrosis 58 Occasional (29-5%)
15 neoplasm of the skin 58 Occasional (29-5%)
16 sepsis 58 Occasional (29-5%)
17 abnormality of the upper urinary tract 58 Occasional (29-5%)
18 limitation of joint mobility 58 Occasional (29-5%)
19 intestinal obstruction 58 Occasional (29-5%)
20 intestinal polyposis 58 Frequent (79-30%)
21 abnormality of the musculature 58 Very frequent (99-80%)
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

Drugs & Therapeutics for Desmoid Disease, Hereditary

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

(showing 88, show less)
# 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 Analgesics, Opioid Phase 3
10 Anesthetics, General Phase 3
11 Anesthetics, Intravenous Phase 3
12 Protein Kinase Inhibitors Phase 3
13
Toremifene Approved, Investigational Phase 2 89778-26-7 3005573
14
leucovorin Approved Phase 2 58-05-9 6006 143
15
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
16
Vinblastine Approved Phase 2 865-21-4 241903 13342
17
Sodium citrate Approved, Investigational Phase 2 68-04-2
18
Sulindac Approved, Investigational Phase 2 38194-50-2 1548887 5352
19
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
20
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
21
nivolumab Approved Phase 2 946414-94-4
22
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
23
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
24
Aminolevulinic acid Approved Phase 2 106-60-5 137
25
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
26
Ipilimumab Approved Phase 2 477202-00-9
27
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
28
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
29
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
30
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
31
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
32
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
33
Imidazole Experimental, Investigational Phase 2 288-32-4 795
34 Hormone Antagonists Phase 2
35 Antineoplastic Agents, Hormonal Phase 2
36 Vitamin B Complex Phase 2
37 Folate Phase 2
38 Folic Acid Antagonists Phase 2
39 Antirheumatic Agents Phase 2
40 Antimetabolites Phase 2
41 Vitamin B9 Phase 2
42 Anti-Inflammatory Agents Phase 2
43 Citrate Phase 2
44 Estrogen Antagonists Phase 2
45 Estrogen Receptor Antagonists Phase 2
46 Analgesics, Non-Narcotic Phase 2
47 Cyclooxygenase Inhibitors Phase 2
48 Anti-Inflammatory Agents, Non-Steroidal Phase 2
49 Angiogenesis Inhibitors Phase 2
50 Imatinib Mesylate Phase 1, Phase 2 220127-57-1 123596
51 Dermatologic Agents Phase 2
52 Tubulin Modulators Phase 2
53 Antimitotic Agents Phase 2
54 Albumin-Bound Paclitaxel Phase 2
55 Pharmaceutical Solutions Phase 2
56 Alkylating Agents Phase 2
57 Antineoplastic Agents, Immunological Phase 2
58 Photosensitizing Agents Phase 2
59
Liposomal doxorubicin Phase 2 31703
60 Immunoglobulins Phase 2
61 Antibodies Phase 2
62 Antibodies, Monoclonal Phase 2
63 Anti-Infective Agents Phase 1, Phase 2
64 Immunologic Factors Phase 1, Phase 2
65 Anti-Bacterial Agents Phase 1, Phase 2
66 Immunosuppressive Agents Phase 1, Phase 2
67 Antifungal Agents Phase 1, Phase 2
68 Antibiotics, Antitubercular Phase 1, Phase 2
69
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
70 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
71
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
72
Parathyroid hormone Approved, Investigational Phase 1 9002-64-6
73
Triamcinolone Approved, Vet_approved Phase 1 124-94-7 31307
74
Tamoxifen Approved Phase 1 10540-29-1 2733526
75
Entinostat Investigational Phase 1 209783-80-2
76 Histone Deacetylase Inhibitors Phase 1
77 Hormones Phase 1
78 Estrogen Receptor Modulators Phase 1
79 Estrogens Phase 1
80 glucocorticoids Phase 1
81 triamcinolone acetonide Phase 1
82 Triamcinolone diacetate Phase 1
83 Triamcinolone hexacetonide Phase 1
84
Estradiol Approved, Investigational, Vet_approved Early Phase 1 50-28-2 5757
85
Polyestradiol phosphate Approved Early Phase 1 28014-46-2
86 Estradiol 17 beta-cypionate Early Phase 1
87 Estradiol 3-benzoate Early Phase 1
88 Fluorides Early Phase 1

Interventional clinical trials:

(showing 44, show less)
# 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 Open-label Trial of Imatinib in Patients With Desmoid Tumor and Chondrosarcoma Unknown status NCT00928525 Phase 2 Imatinib Mesylate
6 A Phase II Trial of Imatinib for Patients With Aggressive Desmoid Tumor (Aggressive Fibromatosis) Completed NCT02495519 Phase 2 Imatinib
7 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
8 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
9 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
10 Phase II Pilot Study Of Moderate Dose Radiotherapy For Inoperable Aggressive Fibromatoses Completed NCT00030680 Phase 2
11 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
12 PHASE II STUDY OF THE SAFETY AND EFFICACY OF TOREMIFENE IN THE THERAPY OF DESMOID TUMORS Completed NCT00002595 Phase 2 toremifene
13 A Multicenter Phase II Study of Continuous Dosing of Sunitinib (Sutent®, SU11248) in Non-GIST Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
14 PAZOPANIB Efficacy and Tolerance in Desmoids Tumors : Phase 2 Clinical Trial Completed NCT01876082 Phase 2 PAZOPANIB treatment;Active Comparator: Vinblastine and Methotrexate
15 Vinblastine and Methotrexate in Children With Multivessel Pulmonary Vein Stenosis-A Phase II Study Completed NCT00215046 Phase 2 Vinblastine;Methotrexate
16 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
17 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
18 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
19 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.
20 A Phase 1b Single Center Investigation of Safety/Efficacy of Nivolumab (Opdivo®) and ABI-009 (Nab-rapamycin) in Patients With Advanced Undifferentiated Pleomorphic Sarcoma, Liposarcoma, Chondrosarcoma, Osteosarcoma and Ewing Sarcoma Recruiting NCT03190174 Phase 1, Phase 2 Nab-Rapamycin
21 Doxorubicin Eluting Intra-arterial Embolization for Aggressive Desmoid Fibromatosis Recruiting NCT03966742 Phase 2
22 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
23 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
24 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
25 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
26 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
27 Effect of Hydroxyurea as Treatment for Primary Desmoid Tumors in Adults and Children (CHP-914) Withdrawn NCT00978146 Phase 2 Hydroxyurea
28 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)
29 A Phase I Study of an Oral Histone Deacetylase Inhibitor, MS-275, in Refractory Solid Tumors and Lymphomas Completed NCT00020579 Phase 1 entinostat
30 Phase 1 Trial of BC2059 (Tegavivint) in Patients With Unresectable Desmoid Tumor Recruiting NCT03459469 Phase 1 Tegavivint
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 A Pilot Study of Intralesional Injection of Triamcinolone Acetonide for Desmoid Tumors Active, not recruiting NCT03627741 Phase 1 Triamcinolone Acetonide
33 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
34 Tailored Beta-catenin Mutational Approach in Extra-abdominal Sporadic Desmoids Tumor Patients Unknown status NCT02547831
35 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
36 Evaluation of the Cryodestruction of Non Abdominopelvic Desmoid Tumors in Patients Progressing Despite Medical Completed NCT02476305
37 A Prospective Analysis of Active Observation in Patients With Desmoid-Type Fibromatosis Recruiting NCT04281381
38 National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis Recruiting NCT02867033
39 Optional Sub-study to Intraoperative Imaging With ICG Registry Recruiting NCT02651246
40 The Project: EveryChild Protocol: A Registry, Eligibility Screening, Biology and Outcome Study Recruiting NCT02402244
41 A COG Soft Tissue Sarcoma Diagnosis, Biology and Banking Protocol Active, not recruiting NCT00919269
42 The Evaluation of Health-related Quality of Life Issues Experienced by Patients With Desmoid-type Fibromatosis Enrolling by invitation NCT04289077
43 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
44 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

Cochrane evidence based reviews: 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, Skin

Publications for Desmoid Disease, Hereditary

Articles related to Desmoid Disease, Hereditary:

(showing 15, show less)
# 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. 6 56
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. 6 56
8968744 1996
6
Phenotypic variation in hereditary nonpolyposis colon cancer syndrome. Association with infiltrative fibromatosis (desmoid tumor). 6 56
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 (showing 38, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APC NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)SNV Pathogenic 545962 rs1554085355 5:112175158-112175158 5:112839461-112839461
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.694C>T (p.Arg232Ter)SNV Pathogenic 42248 rs397515734 5:112128191-112128191 5:112792494-112792494
8 APC NM_000038.6(APC):c.637C>T (p.Arg213Ter)SNV Pathogenic 140952 rs587781392 5:112116592-112116592 5:112780895-112780895
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.847C>T (p.Arg283Ter)SNV Pathogenic 184999 rs786201856 5:112151204-112151204 5:112815507-112815507
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.933+1G>ASNV Pathogenic/Likely pathogenic 233970 rs876660765 5:112151291-112151291 5:112815594-112815594
13 APC NM_000038.6(APC):c.70C>T (p.Arg24Ter)SNV Pathogenic/Likely pathogenic 184702 rs145945630 5:112090657-112090657 5:112754960-112754960
14 APC NM_000038.6(APC):c.1312+3A>GSNV Pathogenic/Likely pathogenic 217924 rs863225311 5:112155044-112155044 5:112819347-112819347
15 APC NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)SNV Conflicting interpretations of pathogenicity 135709 rs587780600 5:112177092-112177092 5:112841395-112841395
16 APC NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)SNV Conflicting interpretations of pathogenicity 141436 rs147287751 5:112179680-112179680 5:112843983-112843983
17 APC NM_000038.6(APC):c.6639G>A (p.Met2213Ile)SNV Conflicting interpretations of pathogenicity 141618 rs35540155 5:112177930-112177930 5:112842233-112842233
18 APC NM_000038.6(APC):c.1606G>A (p.Glu536Lys)SNV Conflicting interpretations of pathogenicity 216151 rs138098808 5:112163683-112163683 5:112827986-112827986
19 APC NM_000038.6(APC):c.5363G>A (p.Arg1788His)SNV Conflicting interpretations of pathogenicity 92348 rs201472075 5:112176654-112176654 5:112840957-112840957
20 APC NM_001127511.3(APC):c.-204A>GSNV Conflicting interpretations of pathogenicity 469859 rs554351451 5:112043211-112043211 5:112707514-112707514
21 APC NM_001127511.3(APC):c.-128G>CSNV Conflicting interpretations of pathogenicity 469828 rs543098847 5:112043287-112043287 5:112707590-112707590
22 APC NM_000038.6(APC):c.607C>G (p.Gln203Glu)SNV Conflicting interpretations of pathogenicity 41509 rs141576417 5:112116562-112116562 5:112780865-112780865
23 APC NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)SNV Conflicting interpretations of pathogenicity 41510 rs201375478 5:112178015-112178015 5:112842318-112842318
24 APC NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)SNV Conflicting interpretations of pathogenicity 41512 rs200756935 5:112178327-112178327 5:112842630-112842630
25 APC NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)SNV Conflicting interpretations of pathogenicity 41530 rs143796828 5:112175663-112175663 5:112839966-112839966
26 APC NM_001127511.3(APC):c.1A>G (p.Met1Val)SNV 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.1762G>A (p.Val588Ile)SNV Uncertain significance 469719 rs372416031 5:112170666-112170666 5:112834969-112834969
31 APC NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)SNV Uncertain significance 216188 rs780049836 5:112179753-112179753 5:112844056-112844056
32 APC NM_000038.6(APC):c.5105G>A (p.Gly1702Glu)SNV Uncertain significance 184169 rs769273526 5:112176396-112176396 5:112840699-112840699
33 APC NM_000038.6(APC):c.6257C>G (p.Pro2086Arg)SNV Uncertain significance 186466 rs786202975 5:112177548-112177548 5:112841851-112841851
34 APC NM_000038.6(APC):c.1553C>T (p.Thr518Met)SNV Uncertain significance 231917 rs371453363 5:112163630-112163630 5:112827933-112827933
35 APC NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)SNV Uncertain significance 232924 rs186641437 5:112173765-112173765 5:112838068-112838068
36 APC NM_000038.6(APC):c.8276G>A (p.Arg2759His)SNV Uncertain significance 141690 rs538289470 5:112179567-112179567 5:112843870-112843870
37 APC NM_000038.6(APC):c.791A>G (p.Gln264Arg)SNV Uncertain significance 411364 rs369345931 5:112137037-112137037 5:112801340-112801340
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:

(showing 3, show less)
# Super pathways Score Top Affiliating Genes
1 10.77 PYGO1 CTNNB1 APC
2 10.41 CTNNB1 APC
3 10.18 PYGO1 CTNNB1 APC

GO Terms for Desmoid Disease, Hereditary

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 beta-catenin destruction complex GO:0030877 8.96 CTNNB1 APC
2 Wnt signalosome GO:1990909 8.62 CTNNB1 APC

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

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 beta-catenin destruction complex disassembly GO:1904886 8.62 CTNNB1 APC

Sources for Desmoid Disease, Hereditary

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72 UMLS via Orphanet
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