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NPHP3-related Meckel-like syndrome
1 OMIM reference -
1 associated gene
9 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2
Senior-Loken syndrome
7 OMIM references -
8 associated genes
15 signs/symptoms
NPHP3-related Meckel-like syndrome
Senior-Loken syndrome

NPHP3
(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)

COMMON
GENES 		NPHP3
INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
NPHP3
NPHP3
(0.84)
(0.72)
NPHP1
CEP164


Citations in the biomedical literature:


NPHP3-related Meckel-like syndrome
NPHP3
Senior-Loken syndrome
CEP164 CEP290 INVS IQCB1 NPHP1
NPHP4 SDCCAG8



NPHP3-related Meckel-like syndrome
Senior-Loken syndrome

Synonym(s):
- Goldston syndrome
- Meckel syndrome type 7
- Meckel-like syndrome type 1
- Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts
Synonym(s):
- Nephronophthisis with retinal dystrophy
- Renal dysplasia - retinal aplasia
- SLSN
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
(no data available)
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 -
No MeSH references
External references:
7 OMIM references -
1 MeSH reference: C537580
COMMON
SIGNS 		- Autosomal recessive inheritance
- Multicystic kidney / renal dysplasia

NPHP3-related Meckel-like syndrome
Senior-Loken syndrome

Very frequent
- Dandy-Walker anomaly

Frequent
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Intestinal / gut / bowel malrotation
- Oligoamnios
- Polyhydramnios
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the pancreas



Very frequent
- Chronic arterial hypertension
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- 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