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Marshall syndrome

1 OMIM reference -
1 associated gene
41 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 13

Kniest dysplasia

1 OMIM reference -
1 associated gene
38 signs/symptoms

Marshall syndrome

Kniest dysplasia

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL11A1	(0.52)	COL2A1

Citations in the biomedical literature:

Marshall syndrome		Kniest dysplasia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536025		External references: 1 OMIM reference - 1 MeSH reference: C537207


COMMON SIGNS	- Autosomal dominant inheritance - Cataract / lens opacification - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Depressed nasal bridge - Glaucoma - Lens dislocation / luxation / subluxation / ectopia lentis - Micrognathia / retrognathia / micrognathism / retrognathism - Myopia - Osteoarthritis - Proptosis / exophthalmos - Retinal detachment - Short stature / dwarfism / nanism - Vitreous anomalies / hyalitis / persistent vitreous vascularisation

Marshall syndrome		Kniest dysplasia
	Very frequent - Anomalies of teeth and dentition - Anteverted nares / nostrils - Articular / joint pain / arthralgia - Brachycephaly / flat occiput - Broad nose / nasal bridge - Depressed premaxillary region / midface - Flat cheek bones / malar hypoplasia - Flat face - Hypertelorism - Long philtrum - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Sensorineural deafness / hearing loss - Thick lips Frequent - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Frontal sinus agenesis / anomaly - Genu valgum - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intracranial / cerebral calcifications - Mild visual loss / impaired visual acuity - Visual loss / blindness / amblyopia Occasional - Absent / decreased / thin eyebrows - Anomalies of eyelids, eyelashes and lacrimal system - Frontal bossing / prominent forehead - High vaulted / narrow palate - Nystagmus - Strabismus / squint		Very frequent - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Joint / articular deformation - Kyphosis - Lordosis - Mesomelic micromelia - Metaphyseal anomaly - Mid-facial hypoplasia / short / small midface - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Restricted joint mobility / joint stiffness / ankylosis - Retinopathy - Rhizomelic micromelia - Scoliosis - Short rib cage / thorax - Wide rib cage / thorax Frequent - Hearing loss / hypoacusia / deafness - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Round face Occasional - Glossoptosis - Ptosis - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Tracheal atresia / stenosis - Tracheomalacia / tracheobronchomalacia