ODCs

Cytoscape Web

Click node...

Monosomy 9q22.3

1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Solitary median maxillary central incisor syndrome

1 OMIM reference -
1 associated gene
37 signs/symptoms

Monosomy 9q22.3

Solitary median maxillary central incisor syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTCH1	(0.59)	SHH

Citations in the biomedical literature:

Monosomy 9q22.3		Solitary median maxillary central incisor syndrome
	Synonym(s): - Microdeletion 9q22.3		Synonym(s): - SMMCI - Single upper central incisor

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare odontologic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: multigenic/multifactorial

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537342


COMMON SIGNS	- Corpus callosum / septum pellucidum total / partial agenesis - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint

Monosomy 9q22.3		Solitary median maxillary central incisor syndrome
	Very frequent - Epicanthic folds - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hyperactivity / attention deficit - Hypotonia - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Microstomia / little mouth - Pectus excavatum - Short neck - Tall stature / gigantism / growth acceleration - Trigonocephaly - Umbilical hernia Frequent - Advanced bone age - Bifid / cleft ear lobe / ear lobe pits - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dilated cerebral ventricles without hydrocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hyperextensible joints / articular hyperlaxity - Kyphosis - Thick / wide ear lobe		Very frequent - Choanal atresia - Nasal / sinus obstruction / apertura pyriformis hypoplasia / stenosis - Short stature / dwarfism / nanism - Solitary median incisor Frequent - Hypotelorism - Intrauterine growth retardation - Microcephaly - Narrow nasal bridge - Prematurity - Short philtrum - Tented upper lip Occasional - Agenesis / hypoplasia / aplasia of kidneys - Ambiguous genitalia - Anteverted nares / nostrils - Asthma / bronchospasm - Autosomal dominant inheritance - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Cleft lip and palate - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Coloboma of iris - Congenital cardiac anomaly / malformation / cardiopathy - Cyclopia - Duodenal atresia / stenosis / megaduodenum - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Hypothyroidy - Insterstitial / subtelomeric microdeletion / deletion - Maternal diabetes - Micropenis / small penis / agenesis - Scoliosis - Short / small nose - Tetralogy of Fallot / trilogy of Fallot - Vertebral segmentation anomaly / hemivertebrae