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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
2 associated genes
11 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Isolated ectopia lentis

CACNG2 ADAMTSL4
CDH15 FBN1
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KIF1A
(0.63)
ADAMTSL4



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Isolated ectopia lentis
ADAMTSL4 FBN1



Autosomal dominant nonsyndromic intellectual deficit
Isolated ectopia lentis

Synonym(s):
(no synonyms)

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

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
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: normal
Type of inheritance: autosomal dominant

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

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


Autosomal dominant nonsyndromic intellectual deficit

(no data available)