ORPHA:873

Desmoid tumor

Synonyms: Aggressive fibromatosis · Desmoid type fibromatosis

A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Desmoid tumor	Aggressive fibromatosis · Desmoid type fibromatosis
fr	Tumeur desmoïde	Fibromatose agressive · Fibromatose type desmoïde
de	Desmoidtumor	Desmoid-Fibromatose · Fibromatose, aggressive
es	Tumor desmoide	Fibromatosis agresiva · Fibromatosis tipo desmoide
it	Tumore desmoide	Fibromatosi aggressiva · Fibromatosi, tipo desmoide
nl	Desmoïde tumor	Agressieve fibromatose · Desmoïd-type fibromatose
pt	Doença desmóide	Fibromatose agressiva
pl	Guz desmoidalny	Fibromatoza agresywna · Fibromatoza typu desomidalnego
cs	Desmoidní tumor	Agresivní fibromatóza · Desmoidní typ fibromatózy
uk	Десмоїдна пухлина	Агресивний фіброматоз · Фіброматоз десмоїдного типу
zh	韧带样纤维瘤	韧带样型纤维瘤病
tr	Desmoid tümör	Agresif fibromatoz · Desmoid tipi fibromatoz

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	135290	BTNT		validated
ICD-10	D48.1	NTBT	index	validated
ICD-11	2F7C	NTBT	attributed	validated
ICD-11	XH13Z3	E	specific	validated
MONDO	0007608	E		validated
UMLS	C0079218	E		validated
GARD	1820	E		validated
MedDRA	10059352	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
APC	Disease-causing somatic mutation(s) in	Assessed	HGNC:583	ENSG00000134982	611731	5q22.2	APC regulator of Wnt signaling pathway
CTNNB1	Disease-causing somatic mutation(s) in	Assessed	HGNC:2514	ENSG00000168036	116806	3p22.1	catenin beta 1

3 records

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	1-9 / 1 000 000	0.3 / 100 000	Europe	Value and class	Validated	[EXPERT]
Annual incidence	1-9 / 1 000 000	0.33 / 100 000	Finland	Value and class	Not yet validated	3946757[PMID]
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

20 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0004298	Abnormality of the abdominal wall
HP:0003011	Abnormality of the musculature
HP:0100245	Desmoid tumors
HP:0010614	Fibroma
HP:0001482	Subcutaneous nodule
Frequent (79-30%)
HP:0002027	Abdominal pain
HP:0007703	Abnormality of retinal pigmentation
HP:0200008	Intestinal polyposis
HP:0002024	Malabsorption
HP:0003326	Myalgia
Occasional (29-5%)
HP:0010935	Abnormality of the upper urinary tract
HP:0002829	Arthralgia
HP:0100749	Chest pain
HP:0002239	Gastrointestinal hemorrhage
HP:0000126	Hydronephrosis
HP:0005214	Intestinal obstruction
HP:0001376	Limitation of joint mobility
HP:0008069	Neoplasm of the skin
HP:0002797	Osteolysis
HP:0100806	Sepsis