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1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
3 OMIM references -
16 associated genes
No signs/symptoms info
Autosomal recessive limb-girdle muscular dystrophy type 2H
Papillary or follicular thyroid carcinoma

TRIM32 CCDC6
DIRC3
ERC1
FOXE1
GOLGA5
NCOA4
NDUFA13
NKX2-1
NTRK1
PCM1
RET
TFG
TPR
TRIM24
TRIM27
TRIM33


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TRIM32
(0.73)
TRIM27



Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2H
TRIM32
Papillary or follicular thyroid carcinoma
CCDC6 DIRC3 ERC1 FOXE1 GOLGA5 NCOA4
NDUFA13 NKX2-1 NTRK1 PCM1 RET TFG
TPR TRIM24 TRIM27 TRIM33



Autosomal recessive limb-girdle muscular dystrophy type 2H
Papillary or follicular thyroid carcinoma

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

Synonym(s):
- Well-differentiated thyroid carcinoma

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare endocrine 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: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic

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



Papillary or follicular thyroid carcinoma

(no data available)