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Marshall syndrome

1 OMIM reference -
1 associated gene
41 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 13

Stickler syndrome type 1

2 OMIM references -
1 associated gene
22 signs/symptoms

Marshall syndrome

Stickler syndrome type 1

(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		Stickler syndrome type 1

	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 eye disease - 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536025		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Articular / joint pain / arthralgia - Autosomal dominant inheritance - Cataract / lens opacification - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Long philtrum - Myopia - Osteoarthritis - Proptosis / exophthalmos - Retinal detachment - Sensorineural deafness / hearing loss - Visual loss / blindness / amblyopia - Vitreous anomalies / hyalitis / persistent vitreous vascularisation

Marshall syndrome		Stickler syndrome type 1
	Very frequent - Anomalies of teeth and dentition - Anteverted nares / nostrils - Brachycephaly / flat occiput - Broad nose / nasal bridge - Depressed nasal bridge - Depressed premaxillary region / midface - Flat cheek bones / malar hypoplasia - Flat face - Hypertelorism - Micrognathia / retrognathia / micrognathism / retrognathism - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Short stature / dwarfism / nanism - Thick lips Frequent - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Frontal sinus agenesis / anomaly - Genu valgum - Glaucoma - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intracranial / cerebral calcifications - Lens dislocation / luxation / subluxation / ectopia lentis - Mild visual loss / impaired visual acuity 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 - Short / small nose Frequent - Epiphyseal anomaly - Epiphyseal vertebral anomaly - Hyperextensible joints / articular hyperlaxity - Marfanoid morphotype - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Platyspondyly Occasional - Intellectual deficit / mental / psychomotor retardation / learning disability