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Marshall syndrome

1 OMIM reference -
1 associated gene
41 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7

Achondrogenesis type 2

1 OMIM reference -
1 associated gene
25 signs/symptoms

Marshall syndrome

Achondrogenesis type 2

(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		Achondrogenesis type 2
	Synonym(s): (no synonyms)		Synonym(s): - Achondrogenesis, Langer-Saldino type

	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

	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: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536025		External references: 1 OMIM reference - 1 MeSH reference: C536017


COMMON SIGNS	- Anteverted nares / nostrils - Autosomal dominant inheritance - Flat face - Frontal bossing / prominent forehead - Long philtrum - Micrognathia / retrognathia / micrognathism / retrognathism - Short stature / dwarfism / nanism

Marshall syndrome		Achondrogenesis type 2
	Very frequent - Anomalies of teeth and dentition - Articular / joint pain / arthralgia - Brachycephaly / flat occiput - Broad nose / nasal bridge - Cataract / lens opacification - Depressed nasal bridge - Depressed premaxillary region / midface - Flat cheek bones / malar hypoplasia - Hypertelorism - Myopia - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Sensorineural deafness / hearing loss - Thick lips Frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Frontal sinus agenesis / anomaly - Genu valgum - Glaucoma - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intracranial / cerebral calcifications - Lens dislocation / luxation / subluxation / ectopia lentis - Mild visual loss / impaired visual acuity - Osteoarthritis - Proptosis / exophthalmos - Retinal detachment - Visual loss / blindness / amblyopia - Vitreous anomalies / hyalitis / persistent vitreous vascularisation Occasional - Absent / decreased / thin eyebrows - Anomalies of eyelids, eyelashes and lacrimal system - High vaulted / narrow palate - Nystagmus - Strabismus / squint		Very frequent - Abnormal / absent ossification - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Excess nuchal skin without pterygium colli - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Macrocephaly / macrocrania / megalocephaly / megacephaly - Narrow rib cage / thorax - Short limbs / micromelia / brachymelia - Short neck - Short rib cage / thorax - Short / small nose - Stillbirth / neonatal death Frequent - Inguinal / inguinoscrotal / crural hernia - Polyhydramnios - Umbilical hernia Occasional - Congenital cardiac anomaly / malformation / cardiopathy - Cystic hygroma - Postaxial polydactyly (hand)