Cytoscape Web
Click node...

Colobomatous microphthalmia
9 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Sudden infant death - dysgenesis of the testes
1 OMIM reference -
1 associated gene
19 signs/symptoms
Colobomatous microphthalmia
Sudden infant death - dysgenesis of the testes

ABCB6
(UniProt - OMIM)
 TSPYL1
(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
(0.63)
TSPYL1


Citations in the biomedical literature:


Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SHH SOX2 STRA6
TENM3 VSX2
Sudden infant death - dysgenesis of the testes
TSPYL1



Colobomatous microphthalmia
Sudden infant death - dysgenesis of the testes

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst
Synonym(s):
- SIDDT
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare respiratory disease
- Rare urogenital disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
9 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Sudden infant death - dysgenesis of the testes

Very frequent
- Ambiguous genitalia
- Apnea / sleep apnea
- Asthma / bronchospasm
- Autosomal recessive inheritance
- Cardiac rhythm disorder / arrhythmia
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Death in infancy
- Dysautonomia / autonomous nervous sytem anomalies
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Hypothermia
- Micropenis / small penis / agenesis
- Respiratory rhythm disorder
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Areflexia / hyporeflexia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Myoclonus / fasciculations
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy



Colobomatous microphthalmia

(no data available)