Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
7 associated genes
No signs/symptoms info
Autosomal recessive limb-girdle muscular dystrophy type 2H
Acute promyelocytic leukemia

TRIM32 NABP1
NPM1
NUMA1
PML
RARA
STAT5B
ZBTB16


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TRIM32
(0.63)
RARA



Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2H
TRIM32
Acute promyelocytic leukemia
NABP1 NPM1 NUMA1 PML RARA STAT5B
ZBTB16



Autosomal recessive limb-girdle muscular dystrophy type 2H
Acute promyelocytic leukemia

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

Synonym(s):
- Acute myeloblastic leukemia type 3
- Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare hematologic 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:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D015473

Autosomal recessive limb-girdle muscular dystrophy type 2H

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



Acute promyelocytic leukemia

(no data available)