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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
4 signs/symptoms
Glycogen storage disease due to muscle beta-enolase deficiency
Keratosis palmoplantaris striata

ENO3 DSG1
DSP
KRT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ENO3
(0.63)
DSP



Citations in the biomedical literature:


Glycogen storage disease due to muscle beta-enolase deficiency
ENO3
Keratosis palmoplantaris striata
DSG1 DSP KRT1



Glycogen storage disease due to muscle beta-enolase deficiency
Keratosis palmoplantaris striata

Synonym(s):
- GSD due to muscle beta-enolase deficiency
- GSDXIII
- Glycogenosis due to muscle beta-enolase deficiency
- Glycogenosis type 13
- Muscle enolase deficiency
- Muscular enolase deficiency

Synonym(s):
- Keratosis palmoplantaris striata et areata
- Keratosis palmoplantaris varians of Wachters
- Striate palmoplantar keratoderma

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

Keratosis palmoplantaris striata

Very frequent
- Autosomal dominant inheritance
- Palmoplantar hyperkeratosis / keratoderma

Frequent
- Hair and scalp anomalies
- Nails anomalies



Glycogen storage disease due to muscle beta-enolase deficiency

(no data available)