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3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
2 signs/symptoms
Distal hereditary motor neuropathy type 2
Bathing suit ichthyosis

HSPB1 TGM1
HSPB3
HSPB8


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPB1
(0.55)
TGM1



Citations in the biomedical literature:


Distal hereditary motor neuropathy type 2
HSPB1 HSPB3 HSPB8
Bathing suit ichthyosis
TGM1



Distal hereditary motor neuropathy type 2
Bathing suit ichthyosis

Synonym(s):
- Distal spinal muscular atrophy type 2
- dHMN2
- dSMA2

Synonym(s):
- BSI

Classification (Orphanet):
- 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: -
Average age onset: adolescence / young
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:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Bathing suit ichthyosis

Very frequent
- Autosomal recessive inheritance
- Ichthyosis / ichthyosiform dermatitis



Distal hereditary motor neuropathy type 2

(no data available)