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4 OMIM references -
1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
18 OMIM references -
18 associated genes
16 signs/symptoms
Chronic intestinal pseudoobstruction
Leber congenital amaurosis

FLNA AIPL1
CEP290
CRB1
CRX
GDF6
GUCY2D
IMPDH1
IQCB1
KCNJ13
LCA5
LRAT
NMNAT1
RD3
RDH12
RPE65
RPGRIP1
SPATA7
TULP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNA
(0.72)
IQCB1



Citations in the biomedical literature:


Chronic intestinal pseudoobstruction
FLNA
Leber congenital amaurosis
AIPL1 CEP290 CRB1 CRX GDF6 GUCY2D
IMPDH1 IQCB1 KCNJ13 LCA5 LRAT NMNAT1
RD3 RDH12 RPE65 RPGRIP1 SPATA7 TULP1



Chronic intestinal pseudoobstruction
Leber congenital amaurosis

Synonym(s):
- CIPO

Synonym(s):
- Amaurosis congenita of Leber

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
4 OMIM references -
No MeSH references
External references:
18 OMIM references -
1 MeSH reference: D057130

Chronic intestinal pseudoobstruction
Leber congenital amaurosis

Very frequent
- Intestinal / colonic anomaly

Frequent
- Gastric / pyloric stenosis
- Intestinal / gut / bowel malrotation
- Structural anomalies of the nervous system

Occasional
- Patent ductus arteriosus
- Platelets shape anomalies


Very frequent
- Autosomal recessive inheritance
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinitis pigmentosa / retinal pigmentary changes
- Visual loss / blindness / amblyopia

Frequent
- Abnormal ERG / electroretinogram / electroretinography
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Cataract / lens opacification
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Encephalocele / exencephaly
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypotonia
- Keratoconus / keratoglobus
- Nystagmus
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability