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3 OMIM references -
2 associated genes
11 signs/symptoms
COMMON GENES: 1
1 associated gene
No signs/symptoms info
Isolated ectopia lentis
Progeroid and marfanoid aspect-lipodystrophy syndrome

ADAMTSL4 FBN1
FBN1


COMMON
GENES
FBN1



Citations in the biomedical literature:


Isolated ectopia lentis
ADAMTSL4 FBN1
Progeroid and marfanoid aspect-lipodystrophy syndrome



Isolated ectopia lentis
Progeroid and marfanoid aspect-lipodystrophy syndrome

Synonym(s):
- Ectopia lentis syndrome
- Familial ectopia lentis

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
2 MeSH references: C536184 / D004479
External references:
No OMIM references
No MeSH references

Isolated ectopia lentis

Very frequent
- Autosomal dominant inheritance
- Lens dislocation / luxation / subluxation / ectopia lentis
- Restricted joint mobility / joint stiffness / ankylosis

Frequent
- Depressed premaxillary region / midface
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Prognathism / prognathia

Occasional
- Cataract / lens opacification
- Chronic arterial hypertension
- Nystagmus
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Visual loss / blindness / amblyopia


Progeroid and marfanoid aspect-lipodystrophy syndrome

(no data available)