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Ehlers-Danlos syndrome with periventricular heterotopia
1 OMIM reference -
1 associated gene
17 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1
Senior-Loken syndrome
7 OMIM references -
8 associated genes
15 signs/symptoms
Ehlers-Danlos syndrome with periventricular heterotopia
Senior-Loken syndrome

FLNA
(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)
FLNA
FLNA
(0.87)
(0.72)
NPHP1
IQCB1


Citations in the biomedical literature:


Ehlers-Danlos syndrome with periventricular heterotopia
FLNA
Senior-Loken syndrome
CEP164 CEP290 INVS IQCB1 NPHP1 NPHP3
NPHP4 SDCCAG8



Ehlers-Danlos syndrome with periventricular heterotopia
Senior-Loken syndrome

Synonym(s):
- EDS with periventricular heterotopia
Synonym(s):
- Nephronophthisis with retinal dystrophy
- Renal dysplasia - retinal aplasia
- SLSN
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic 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: x-linked dominant
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 -
No MeSH references
External references:
7 OMIM references -
1 MeSH reference: C537580
COMMON
SIGNS 		- Intellectual deficit / mental / psychomotor retardation / learning disability

Ehlers-Danlos syndrome with periventricular heterotopia
Senior-Loken syndrome

Very frequent
- Gastric / pyloric stenosis
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Herniae
- Scoliosis
- X-linked dominant inheritance

Frequent
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Cardiac valvulopathy
- Hyperextensible joints / articular hyperlaxity
- Patent ductus arteriosus
- Seizures / epilepsy / absences / spasms / status epilepticus
- Structural anomalies of the nervous system
- Thin skin

Occasional
- Aortic root dilatation / dilation / aneurysm
- Patella dislocation
- Shoulder dislocation


Very frequent
- Autosomal recessive inheritance
- 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