ODCs

Click node...

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
4 signs/symptoms

Hereditary sensorimotor neuropathy with hyperelastic skin

Glaucoma - ectopia - microspherophakia - stiff joints - short stature


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FBLN5	(0.63)	FBN1

Citations in the biomedical literature:

Hereditary sensorimotor neuropathy with hyperelastic skin		Glaucoma - ectopia - microspherophakia - stiff joints - short stature
	Synonym(s): (no synonyms)		Synonym(s): - Gemss syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease

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

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

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

Glaucoma - ectopia - microspherophakia - stiff joints - short stature
	Very frequent - Autosomal dominant inheritance - Glaucoma - Lens dislocation / luxation / subluxation / ectopia lentis - Short stature / dwarfism / nanism
Hereditary sensorimotor neuropathy with hyperelastic skin
(no data available)