Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
8 signs/symptoms
Autosomal recessive limb-girdle muscular dystrophy type 2H
X-linked lymphoproliferative disease

TRIM32 SH2D1A
XIAP


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2H
TRIM32
X-linked lymphoproliferative disease
SH2D1A XIAP



Autosomal recessive limb-girdle muscular dystrophy type 2H
X-linked lymphoproliferative disease

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

Synonym(s):
- Duncan disease
- Purtilo syndrome
- XLP

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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: childhood
Average age of death: -
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D008232

Autosomal recessive limb-girdle muscular dystrophy type 2H
X-linked lymphoproliferative disease

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
- T-cell deficiency / cellular immunity deficiency
- X-linked recessive inheritance

Frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Hepatomegaly / liver enlargement (excluding storage disease)
- Lymphadenopathy / polyadenopathies
- Lymphoma
- Splenomegaly

Occasional
- Anaemia