ORPHA:780

Rhabdomyosarcoma

Type: Disease
Group: Disorder
Inheritance: Multigenic/multifactorial
Age of onset: Childhood
Status: active

A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Rhabdomyosarcoma
fr	Rhabdomyosarcome
de	Rhabdomyosarkom
es	Rabdomiosarcoma
it	Rabdomiosarcoma
nl	Rhabdomyosarcoom
pt	Rabdomiossarcoma
pl	Mięsak prążkowanokomórkowy
cs	Rhabdomyosarkom
uk	Рабдоміосаркома
zh	舌横纹肌肉瘤
tr	Rabdomyosarkom

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	180295	BTNT		validated
OMIM	268210	BTNT		validated
OMIM	268220	BTNT		validated
ICD-10	C49.9	NTBT	index	validated
ICD-11	2B55	E	specific	validated
ICD-11	2B55.0	BTNT	specific	validated
ICD-11	2B55.1	BTNT	specific	validated
ICD-11	2B55.2	BTNT	specific	validated
ICD-11	2B55.Y	BTNT	attributed	validated
MONDO	0005212	E		validated
MeSH	D012208	E		validated
UMLS	C0035412	E		validated
MedDRA	10039022	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:250908Rare neoplastic disease

Parents in the classifications (2):

ORPHA:206982Muscular tumor
rare neurological diseases
ORPHA:3394Soft tissue sarcoma
rare neoplastic diseases

Children (3):

Genes

0 direct · 11 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
SLC67A1	ORPHA:99757Embryonal rhabdomyosarcoma	Candidate gene tested in	Not yet assessed	HGNC:10964	ENSG00000110628	602631	11p15.4	solute carrier family 67 member 1	9520460[PMID]
TP53	ORPHA:99756Alveolar rhabdomyosarcoma	Disease-causing germline mutation(s) in	Assessed	HGNC:11998	ENSG00000141510	191170	17p13.1	tumor protein p53	7706467[PMID]
TP53	ORPHA:99757Embryonal rhabdomyosarcoma	Disease-causing germline mutation(s) in	Assessed	HGNC:11998	ENSG00000141510	191170	17p13.1	tumor protein p53	7706467[PMID]
TP53	ORPHA:293199Pleomorphic rhabdomyosarcoma	Disease-causing germline mutation(s) in	Assessed	HGNC:11998	ENSG00000141510	191170	17p13.1	tumor protein p53	7706467[PMID]
DICER1	ORPHA:99757Embryonal rhabdomyosarcoma	Disease-causing somatic mutation(s) in	Assessed	HGNC:17098	ENSG00000100697	606241	14q32.13	dicer 1, ribonuclease III	22180160[PMID]
NF1	ORPHA:99756Alveolar rhabdomyosarcoma	Disease-causing somatic mutation(s) in	Assessed	HGNC:7765	ENSG00000196712	613113	17q11.2	neurofibromin 1	34166060[PMID]
NF1	ORPHA:99757Embryonal rhabdomyosarcoma	Disease-causing somatic mutation(s) in	Assessed	HGNC:7765	ENSG00000196712	613113	17q11.2	neurofibromin 1	34166060[PMID]
NF1	ORPHA:293199Pleomorphic rhabdomyosarcoma	Disease-causing somatic mutation(s) in	Assessed	HGNC:7765	ENSG00000196712	613113	17q11.2	neurofibromin 1	34166060[PMID]
FOXO1	ORPHA:99756Alveolar rhabdomyosarcoma	Part of a fusion gene in	Assessed	HGNC:3819	ENSG00000150907	136533	13q14.11	forkhead box O1
PAX3	ORPHA:99756Alveolar rhabdomyosarcoma	Part of a fusion gene in	Assessed	HGNC:8617	ENSG00000135903	606597	2q36.1	paired box 3
PAX7	ORPHA:99756Alveolar rhabdomyosarcoma	Part of a fusion gene in	Assessed	HGNC:8621	ENSG00000009709	167410	1p36.13	paired box 7

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	1-9 / 1 000 000	0.59 / 100 000	Europe	Value and class	Validated	[EXPERT]
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.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/780
This record as JSON: /data/d/780.json