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Oculocerebrofacial syndrome, Kaufman type
1 OMIM reference -
1 associated gene
31 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Senior-Loken syndrome
7 OMIM references -
8 associated genes
15 signs/symptoms
Oculocerebrofacial syndrome, Kaufman type
Senior-Loken syndrome

UBE3B
(UniProt - OMIM)
 CEP164
(UniProt - OMIM)
CEP290
(UniProt - OMIM)
INVS
(UniProt - OMIM)
IQCB1
(UniProt - OMIM)
NPHP1
(UniProt - OMIM)
NPHP3
(UniProt - OMIM)
NPHP4
(UniProt - OMIM)
SDCCAG8
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
UBE3B
(0.72)
IQCB1


Citations in the biomedical literature:


Oculocerebrofacial syndrome, Kaufman type
UBE3B
Senior-Loken syndrome
CEP164 CEP290 INVS IQCB1 NPHP1 NPHP3
NPHP4 SDCCAG8



Oculocerebrofacial syndrome, Kaufman type
Senior-Loken syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Nephronophthisis with retinal dystrophy
- Renal dysplasia - retinal aplasia
- SLSN
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C537013
External references:
7 OMIM references -
1 MeSH reference: C537580
COMMON
SIGNS 		- Autosomal recessive inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability

Oculocerebrofacial syndrome, Kaufman type
Senior-Loken syndrome

Very frequent
- Brachycephaly / flat occiput
- Long foot / arachnodactyly of toes
- Long hand / arachnodactyly
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Frequent
- Absent / decreased / thin eyebrows
- Blepharophimosis / short palpebral fissures
- Complete / partial microdontia
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High vaulted / narrow palate
- Long face
- Macrostomia / big mouth
- Microcornea
- Muscle weakness / flaccidity
- Myopia
- Narrow face
- Nystagmus
- Philtrum flat / large / featureless / absent cupidon bows
- Preauricular / branchial tags / appendages
- Short philtrum
- Strabismus / squint
- Telecanthus / canthal dystopy
- Thin / retracted lips

Occasional
- Choroidal anomalies / atrophy / choroideremia
- Female pseudohermaphrodism / virilisation / clitoridomegaly


Very frequent
- Chronic arterial hypertension
- Mild visual loss / impaired visual acuity
- Multicystic kidney / renal dysplasia
- Polycystic kidneys
- Retinitis pigmentosa / retinal pigmentary changes
- Short stature / dwarfism / nanism

Frequent
- Renal tubular defect / tubulopathy
- Visual loss / blindness / amblyopia

Occasional
- Abnormal / absent ossification
- Ataxia / incoordination / trouble of the equilibrium
- Cataract / lens opacification
- Cone epiphyses / epiphysis
- Congenital hepatic fibrosis