Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
35 OMIM references -
25 associated genes
2 signs/symptoms
Autosomal recessive limb-girdle muscular dystrophy type 2H
X-linked non-syndromic intellectual deficit

TRIM32 ACSL4
AGTR2
ALG13
ARHGEF6
ARX
DLG3
FTSJ1
GDI1
HCFC1
IL1RAPL1
IQSEC2
MAGT1
MECP2
MED12
MID2
PAK3
RAB39B
RPS6KA3
SYP
TSPAN7
UPF3B
ZNF41
ZNF674
ZNF711
ZNF81


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TRIM32
(0.63)
MID2



Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2H
TRIM32
X-linked non-syndromic intellectual deficit
ACSL4 AGTR2 ALG13 ARHGEF6 ARX DLG3
FTSJ1 GDI1 HCFC1 IL1RAPL1 IQSEC2 MAGT1
MECP2 MED12 MID2 PAK3 RAB39B RPS6KA3
SYP TSPAN7 UPF3B ZNF41 ZNF674 ZNF711
ZNF81



Autosomal recessive limb-girdle muscular dystrophy type 2H
X-linked non-syndromic intellectual deficit

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

Synonym(s):
- X-linked non-specific intellectual deficit

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

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: childhood
Average age of death: no data available
Type of inheritance: x-linked recessive

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

Autosomal recessive limb-girdle muscular dystrophy type 2H
X-linked non-syndromic intellectual deficit

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
- Intellectual deficit / mental / psychomotor retardation / learning disability
- X-linked recessive inheritance