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Senior-Loken syndrome
7 OMIM references -
8 associated genes
145 connected diseases
15 signs/symptoms
Disease Type of connection
Juvenile autosomal recessive medullary cystic kidney disease
Leber congenital amaurosis
Bardet-Biedl syndrome
Joubert syndrome with renal defect
Meckel syndrome
Joubert syndrome with oculorenal defect
Late-onset autosomal recessive medullary cystic kidney disease
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia
Infantile autosomal recessive medullary cystic kidney disease
Epidermolytic palmoplantar keratoderma
Pachyonychia congenita
Keratosis palmoplantaris striata
Cone rod dystrophy
Catecholaminergic polymorphic ventricular tachycardia
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Distal myopathy with posterior leg and anterior hand involvement
Muscle filaminopathy
Mitochondrial trifunctional protein deficiency
Seckel syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Annular epidermolytic ichthyosis
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolytic ichthyosis
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Localized epidermolysis bullosa simplex
Papillary or follicular thyroid carcinoma
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Spinocerebellar ataxia type 11
Spondylocarpotarsal synostosis
Joubert syndrome with hepatic defect
17p13.3 microduplication syndrome
Acute fatty liver of pregnancy
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant methemoglobinemia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
B-cell chronic lymphocytic leukemia
Baraitser-Winter syndrome
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency
Cardiomyopathy - hypotonia - lactic acidosis
Congenital analbuminemia
Congenital fibrosis of extraocular muscles
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Cortical dysplasia - focal epilepsy syndrome
Developmental malformations - deafness - dystonia
Diffuse palmoplantar keratoderma with painful fissures
Dihydropteridine reductase deficiency
Distal hereditary motor neuropathy type 2
Early infantile epileptic encephalopathy
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial leiomyomatosis
Familial prostate cancer
Focal palmoplantar keratoderma with joint keratoses
Fumaric aciduria
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Hb Bart's hydrops fetalis
Hemoglobin H disease
Idiopathic CD4 lymphocytopenia
Idiopathic pulmonary fibrosis
Isolated ATP synthase deficiency
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Lethal acantholytic epidermolysis bullosa
Lissencephaly due to LIS1 mutation
Lissencephaly due to TUBA1A mutation
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Metachondromatosis
Miller-Dieker syndrome
Noonan syndrome
Nuclear cataract
Oculocerebrofacial syndrome, Kaufman type
Osteogenesis imperfecta type 3
Pitt-Hopkins-like syndrome
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Simpson-Golabi-Behmel syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Subcortical band heterotopia
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Triose phosphate-isomerase deficiency
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked non-syndromic intellectual deficit
Young adult-onset Parkinsonism
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Achromatopsia
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal recessive epidermolysis bullosa simplex
Autosomal recessive limb-girdle muscular dystrophy type 2B
Behavioral variant of frontotemporal dementia
Congenital myopathy, Paradas type
Congenital reticular ichthyosiform erythroderma
Dermatopathia pigmentosa reticularis
Distal myopathy with anterior tibial onset
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
Estrogen resistance syndrome
Hypotrichosis simplex of the scalp
Ichthyosis hystrix of Curth-Macklin
Isolated focal cortical dysplasia type IIb
Lennox-Gastaut syndrome
Lymphangioleiomyomatosis
Miyoshi myopathy
Mosaic variegated aneuploidy syndrome
Multiple endocrine neoplasia type 1
Naegeli-Franceschetti-Jadassohn syndrome
Primary ciliary dyskinesia
Primary ciliary dyskinesia - retinitis pigmentosa
Progressive non-fluent aphasia
Retinitis pigmentosa
Sebocystomatosis
Semantic dementia
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 1
Superficial epidermolytic ichthyosis
Tuberous sclerosis
Woolly hair
Synonym(s):
- Nephronophthisis with retinal dystrophy
- Renal dysplasia - retinal aplasia
- SLSN
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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:
7 OMIM references -
1 MeSH reference: C537580
Very frequent
- Autosomal recessive inheritance
- Chronic arterial hypertension
- Intellectual deficit / mental / psychomotor retardation / learning disability
- 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