ODCs

Cytoscape Web

Click node...

Knobloch syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1

Nodulosis-arthropathy-osteolysis syndrome

2 OMIM references -
2 associated genes
No signs/symptoms info

Knobloch syndrome

Nodulosis-arthropathy-osteolysis syndrome

COL18A1	(UniProt - OMIM)		MMP14	(UniProt - OMIM)
			MMP2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL18A1	(0.71)	MMP2

Citations in the biomedical literature:

Knobloch syndrome		Nodulosis-arthropathy-osteolysis syndrome
	Synonym(s): - Knobloch-Layer syndrome - Retinal detachment - occipital encephalocele		Synonym(s): - Multicentric osteolysis - nodulosis - arthropathy - NAO syndrome

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C537209		External references: 2 OMIM references - No MeSH references

Knobloch syndrome
	Very frequent - Autosomal recessive inheritance - Encephalocele / exencephaly - Macular dystrophy / absence / hypoplasia of the macula - Myopia - Retinal detachment - Scalp / skull defect Frequent - Hydrocephaly - Nystagmus - Visual loss / blindness / amblyopia - Vitreous anomalies / hyalitis / persistent vitreous vascularisation Occasional - Cataract / lens opacification - Depressed nasal bridge - Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus - Epicanthic folds - Gastric / pyloric stenosis - Hair and scalp anomalies - Hyperextensible joints / articular hyperlaxity - Lens dislocation / luxation / subluxation / ectopia lentis - Lymphangioma / lymphatic malformations - Mid-facial hypoplasia / short / small midface - Patent ductus arteriosus - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter - Vesicorenal / vesicoureteral reflux
Nodulosis-arthropathy-osteolysis syndrome
(no data available)