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Colobomatous microphthalmia
9 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Atypical teratoid tumor
1 OMIM reference -
1 associated gene
16 signs/symptoms
Colobomatous microphthalmia
Atypical teratoid tumor

ABCB6
(UniProt - OMIM)
 SMARCB1
(UniProt - OMIM)
GDF3
(UniProt - OMIM)
GDF6
(UniProt - OMIM)
SHH
(UniProt - OMIM)
SOX2
(UniProt - OMIM)
STRA6
(UniProt - OMIM)
TENM3
(UniProt - OMIM)
VSX2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SOX2
(0.73)
SMARCB1


Citations in the biomedical literature:


Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SHH SOX2 STRA6
TENM3 VSX2
Atypical teratoid tumor
SMARCB1



Colobomatous microphthalmia
Atypical teratoid tumor

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
9 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Atypical teratoid tumor

Very frequent
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Early death / lethality
- Facial pain / cephalalgia / migraine
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hydrocephaly
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Muscle weakness / flaccidity
- Restricted joint mobility / joint stiffness / ankylosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sleep and vigilance disorders

Occasional
- Acute palsy
- Cranial nerves palsy
- Intracranial / cerebral calcifications


Colobomatous microphthalmia

(no data available)