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1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
4 associated genes
16 signs/symptoms
Autosomal recessive limb-girdle muscular dystrophy type 2H
MALT lymphoma

TRIM32 BIRC3
FOXP1
IGH
MALT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TRIM32
(0.63)
BIRC3



Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2H
TRIM32
MALT lymphoma
BIRC3 FOXP1 IGH MALT1



Autosomal recessive limb-girdle muscular dystrophy type 2H
MALT lymphoma

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

Synonym(s):
- Extranodal marginal zone B-cell lymphoma
- MALToma
- Mucosa-associated lymphatic tissue lymphoma
- Mucosa-associated lymphoid tissue lymphoma

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:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: multigenic/multifactorial

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

Autosomal recessive limb-girdle muscular dystrophy type 2H
MALT lymphoma

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
- Asthenia / fatigue / weakness
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Fever / chilling
- Hematologic / blood / lymphatic cancer
- Hyperhidrosis / increased sweating
- Lung / pulmonary infiltrates
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- Constipation

Occasional
- Acute abdominal pain / colic
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Defect / anomaly of lacrimal system
- Lymphadenopathy / polyadenopathies
- Mediastinal / hilar adenopathies
- Repeat respiratory infections
- Thyroid anomalies