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1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
6 OMIM references -
6 associated genes
3 signs/symptoms
Autosomal recessive limb-girdle muscular dystrophy type 2H
Neuroblastoma

TRIM32 ALK
HACE1
LIN28B
MYCN
PHOX2B
TOP2A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TRIM32
(0.65)
MYCN



Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2H
TRIM32
Neuroblastoma
ALK HACE1 LIN28B MYCN PHOX2B TOP2A



Autosomal recessive limb-girdle muscular dystrophy type 2H
Neuroblastoma

Synonym(s):
- LGMD2H
- Limb-girdle muscular dystrophy due to TRIM32 deficiency
- Sarcotubular myopathy

Synonym(s):
- Neural crest tumor
- Sympathoblastoma

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: child / adolescent
Type of inheritance: sporadic

External references:
1 OMIM reference -
No MeSH references
External references:
6 OMIM references -
2 MeSH references: C536408 / D009447

Autosomal recessive limb-girdle muscular dystrophy type 2H
Neuroblastoma

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal recessive inheritance
- Expressionless face / amimia
- Myopathy

Frequent
- Tall stature / gigantism / growth acceleration



Very frequent
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Organic acid metabolism anomalies

Frequent
- Autosomal dominant inheritance