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Alveolar rhabdomyosarcoma
1 OMIM reference -
3 associated genes
72 connected diseases
No signs/symptoms info
Disease Type of connection
Craniofacial-deafness-hand syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 3
Waardenburg syndrome type 2
Familial isolated dilated cardiomyopathy
Acute promyelocytic leukemia
Autosomal dominant nonsyndromic intellectual deficit
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Complete androgen insensitivity syndrome
Cowden syndrome
Familial hypospadias
Kallmann syndrome
Kennedy disease
Neurologic Waardenburg-Shah syndrome
Partial androgen insensitivity syndrome
Proteus syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Waardenburg-Shah syndrome
Estrogen resistance syndrome
Hyperinsulinism due to HNF4A deficiency
MODY syndrome
Isolated Klippel-Feil syndrome
Hypodontia - dysplasia of nails
Oligodontia
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Lymphangioleiomyomatosis
Tuberous sclerosis
Spinocerebellar ataxia type 17
Aneurysm - osteoarthritis syndrome
Familial pancreatic carcinoma
Familial thoracic aortic aneurysm and aortic dissection
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Combined immunodeficiency due to STK4 deficiency
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
X-linked dystonia-parkinsonism
22q11.2 deletion syndrome
Familial partial lipodystrophy associated with PPARG mutations
Giant cell glioblastoma
Gliosarcoma
46,XX gonadal dysgenesis
Autosomal recessive limb-girdle muscular dystrophy type 2G
Cerebellar ataxia - hypogonadism
Chronic myeloid leukemia
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Ovarian hyperstimulation syndrome
Papillary or follicular thyroid carcinoma
Pilomatrixoma
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Reducing body myopathy
X-linked Emery-Dreifuss muscular dystrophy
X-linked myopathy with postural muscle atrophy
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Generalized resistance to thyroid hormone
Peripheral resistance to thyroid hormones
Selective pituitary resistance to thyroid hormone
14q11.2 microduplication syndrome
14q12 microdeletion syndrome
Atypical Rett syndrome
Clear cell renal carcinoma
Glycogen storage disease due to glucose-6-phosphatase deficiency type a
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Tietz syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare oncologic disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: D018232
Gene symbol UniProt reference OMIM reference
FOXO1 Q12778136533
PAX3 P23760606597
PAX7 P23759167410
No signs/symptoms info available.