ODCs

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3 OMIM references -
2 associated genes
11 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
18 signs/symptoms

Isolated ectopia lentis

Dyssegmental dysplasia, Silverman-Handmaker type

ADAMTSL4	(UniProt - OMIM)		HSPG2	(UniProt - OMIM)
FBN1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FBN1	(0.52)	HSPG2

Citations in the biomedical literature:

Isolated ectopia lentis		Dyssegmental dysplasia, Silverman-Handmaker type
	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 bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 3 OMIM references - 2 MeSH references: C536184 / D004479		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Restricted joint mobility / joint stiffness / ankylosis

Isolated ectopia lentis		Dyssegmental dysplasia, Silverman-Handmaker type
	Very frequent - Autosomal dominant inheritance - Lens dislocation / luxation / subluxation / ectopia lentis 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		Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Blue sclerae - Bowed diaphysis / diaphyses / long bones - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flattened nose - Inguinal / inguinoscrotal / crural hernia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Stillbirth / neonatal death - Umbilical hernia