Cytoscape Web
Click node...

Colobomatous microphthalmia
9 OMIM references -
8 associated genes
No signs/symptoms info
COMMON GENES: 1
Solitary median maxillary central incisor syndrome
1 OMIM reference -
1 associated gene
37 signs/symptoms
Colobomatous microphthalmia
Solitary median maxillary central incisor syndrome

ABCB6
(UniProt - OMIM)
 SHH
(UniProt - OMIM)
GDF3
(UniProt - OMIM)
GDF6
(UniProt - OMIM)
SHH
(UniProt - OMIM)
SOX2
(UniProt - OMIM)
STRA6
(UniProt - OMIM)
TENM3
(UniProt - OMIM)
VSX2
(UniProt - OMIM)

COMMON
GENES 		SHH


Citations in the biomedical literature:


Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SHH SOX2 STRA6
TENM3 VSX2
Solitary median maxillary central incisor syndrome



Colobomatous microphthalmia
Solitary median maxillary central incisor syndrome

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst
Synonym(s):
- SMMCI
- Single upper central incisor
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: multigenic/multifactorial
External references:
9 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537342
Solitary median maxillary central incisor syndrome

Very frequent
- Choanal atresia
- Nasal / sinus obstruction / apertura pyriformis hypoplasia / stenosis
- Short stature / dwarfism / nanism
- Solitary median incisor

Frequent
- Hypotelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- 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
- Corpus callosum / septum pellucidum total / partial agenesis
- 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
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short / small nose
- Strabismus / squint
- Tetralogy of Fallot / trilogy of Fallot
- Vertebral segmentation anomaly / hemivertebrae


Colobomatous microphthalmia

(no data available)