Desmoid tumor

General Information (adopted from Orphanet):

Synonyms, Signs: FIF DESMOID TUMOR CAUSED BY SOMATIC MUTATION, INCLUDED
FIBROMATOSIS, FAMILIAL INFILTRATIVE
Desmoid type fibromatosis
Aggressive fibromatosis
Number of Symptoms 28
OrphanetNr: 873
OMIM Id: 135290
ICD-10: D48.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare soft tissue tumor
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
2
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
3
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
4
 (HPO:0100749) Chest pain Occasional [Orphanet] 92 / 7739
5
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
6
 (HPO:0002797) Osteolysis Occasional [Orphanet] 68 / 7739
7
 (HPO:0005059) Arthralgia/arthritis Occasional [Orphanet] 141 / 7739
8
 (HPO:0100245) Desmoid tumors hallmark [HPO] 6 / 7739
9
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
10
 (HPO:0005214) Intestinal obstruction Occasional [Orphanet] 35 / 7739
11
 (HPO:0004298) Abnormality of the abdominal wall Very frequent [Orphanet] 20 / 7739
12
 (HPO:0003003) Colon cancer rare [HPO] 1078292 IBIS 20 / 7739
13
 (HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] 97 / 7739
14
 (HPO:0200008) Intestinal polyposis Frequent [Orphanet] 23 / 7739
15
 (HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
16
 (HPO:0200040) Epidermoid cyst frequent [HPO] 35 / 7739
17
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
18
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
19
 (HPO:0100806) Sepsis Occasional [Orphanet] 48 / 7739
20
 (HPO:0003326) Myalgia Frequent [Orphanet] 143 / 7739
21
 (HPO:0003011) Abnormality of the musculature Very frequent [Orphanet] 47 / 7739
22
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
23
 (HPO:0030426) Ossifying fibroma Very frequent [Orphanet] 5 / 7739
24
 (OMIM) ? Predisposed to colon cancer 1 / 7739
25
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
26
 (OMIM) Infiltrative fibromatosis of mesentery 1 / 7739
27
 (OMIM) Predisposed to desmoid tumor 1 / 7739
28
 (HPO:0030448) Soft tissue sarcoma Very frequent [Orphanet] 18 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Maher et al. (1992) described a mother and son with marked infiltrative fibromatosis of the mesentery of the type that had been observed as part of the Gardner syndrome. However, colonic polyps, osteomas, sebaceous cysts, and congenital hypertrophy ...
Molecular genetics OMIM Sen-Gupta et al. (1993) identified a somatic deletion in the APC gene in desmoid tissue derived from an FAP patient with a deletion at 5q.

In affected members of the family reported by Maher et al. ...