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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
3 signs/symptoms
Autosomal dominant limb-girdle muscular dystrophy type 1B
Self-healing collodion baby

LMNA ALOX12B
ALOXE3
TGM1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.67)
ALOX12B



Citations in the biomedical literature:


Autosomal dominant limb-girdle muscular dystrophy type 1B
LMNA
Self-healing collodion baby
ALOX12B ALOXE3 TGM1



Autosomal dominant limb-girdle muscular dystrophy type 1B
Self-healing collodion baby

Synonym(s):
- LGMD1B
- Limb-girdle muscular dystrophy due to lamin A/C deficiency

Synonym(s):
- SHCB

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

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

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Self-healing collodion baby

Very frequent
- Autosomal recessive inheritance
- Ichthyosis / ichthyosiform dermatitis
- Restricted joint mobility / joint stiffness / ankylosis



Autosomal dominant limb-girdle muscular dystrophy type 1B

(no data available)