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2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
18 signs/symptoms
Isolated delta-storage pool disease
Uveal coloboma - cleft lip and palate - intellectual deficit

FLI1 YAP1
RUNX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RUNX1
(0.84)
YAP1



Citations in the biomedical literature:


Isolated delta-storage pool disease
FLI1 RUNX1
Uveal coloboma - cleft lip and palate - intellectual deficit
YAP1



Isolated delta-storage pool disease
Uveal coloboma - cleft lip and palate - intellectual deficit

Synonym(s):
- Isolated delta-SPD
- Isolated dense-SPD
- Isolated dense-storage pool disease

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

Uveal coloboma - cleft lip and palate - intellectual deficit

Very frequent
- Autosomal dominant inheritance
- Retinoschisis / retinal / chorioretinal coloboma
- Sensorineural deafness / hearing loss

Frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cleft lip and palate
- Coloboma of iris
- Hematuria / microhematuria
- Intellectual deficit / mental / psychomotor retardation / learning disability

Occasional
- Cataract / lens opacification
- Corneal clouding / opacity / vascularisation
- Embryotoxon
- Glaucoma
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Ptosis
- Retinal detachment
- Strabismus / squint
- Visual loss / blindness / amblyopia


Isolated delta-storage pool disease

(no data available)