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

TRIM32 MYCN


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
Feingold syndrome type 1
MYCN



Autosomal recessive limb-girdle muscular dystrophy type 2H
Feingold syndrome type 1

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

Synonym(s):
- Brunner-Winter syndrome type 1
- Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1
- FGLDS1
- FS1
- MMT type 1
- MODED syndrome type 1
- Microcephaly - intellectual deficit - tracheoesophageal fistula type 1
- Microcephaly - oculo-digito-esophageal-duodenal syndrome type 1
- Microcephaly-digital anomalies-normal intelligence type 1
- ODED syndrome type 1
- Oculo-digito-esophageal-duodenal syndrome type 1

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: autosomal dominant

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

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



Feingold syndrome type 1

(no data available)