Phenotypes for disease #00374 (NPHP1 (nephronophthisis, type 1), OMIM:256100)

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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000015167 - - - Unknown - - - - - Heleen Arts 00016538
0000015168 - - - Unknown - - - - - Heleen Arts 00016539
0000015169 - - - Unknown - - - - - Heleen Arts 00016540
0000015170 - - - Unknown - - - - - Heleen Arts 00016541
0000015397 severe renal involvement progressing to ESRD <5y; mild intellectual disability, strabismus, hepatic cytolysis, cholestasis - - Familial, autosomal recessive ? - - - - Marianne Vos (LOVD-team) 00017033
0000015398 severe renal involvement progressing to ESRD <5y; speech delay, hydrocephalus; age ESDR 4,5y - - Familial, autosomal recessive ? - - - - Marianne Vos (LOVD-team) 00017034
0000015399 - - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00017035
0000015400 neurological alterations, including speech delay, intellectual disability, and/or hydrocephalus supported by cerebral MRI in combination with ophthalmologic defects, strabismus and retinal degeneration, intellectual disability, retinitis, age ESRD 4y - - Familial, autosomal recessive ? - - - - Marianne Vos (LOVD-team) 00017036
0000015401 severe renal involvement progressing to ESRD <5y (II1); high blood pressure - - Familial, autosomal recessive ? - - - - Marianne Vos (LOVD-team) 00017037
0000015402 prominent microcystic tubular dilatations associated with tubular atrophy and interstitial fibrosis, atrophic tubules with thickening of the basement membranes, massive interstitial fibrosis, high blood pressure, hepatic fibrosis - - Familial, autosomal recessive ? - - - - Marianne Vos (LOVD-team) 00017038
0000015403 prominent microcystic tubular dilatations associated with tubular atrophy, interstitial fibrosis, neurological alterations, including speech delay, intellectual disability, hydrocephalus supported by cerebral MRI in combination with ophthalmologic defects, strabismus, severe phenotype with ESRD at 1y, hydrocephalus, facial dysmorphism, heart anomaly complicated by triple X syndrome (47, XXX) - - Familial, autosomal recessive ? - - - - Marianne Vos (LOVD-team) 00017039
0000016133 all affected sibs died at 2y from kidney failure; renal biopsies consistent with nephronophthisis; ons sib suffered from seizures, evidence of cerebral atrophy (imaging) - - Isolated (sporadic) - - - - - Johan den Dunnen 00017797
0000034227 see paper; end stage kidney disease by 8y, renal transplantation, ... - - Familial, autosomal recessive - - - - - Johan den Dunnen 00046332
0000034228 15y end stage renal disease, no extrarenal manifestations - - Isolated (sporadic) - - - - - Johan den Dunnen 00046333
0000222579 Failure to thrive, chronic anaemia, ESRD 1 Y. Renal biopsy: cystic dilation of tubules, glomerulosclerosis and advanced interstitial scarring. Liver biopsy: bile duct proliferation, and hepatic fibrosis. Renal USS: increased echogenicity with loss of corticomedullary differentiation and cortical cysts noted in left kidney NPHP Nephronophthisis 3 Familial, autosomal recessive - 01y - - - Intisar Al Alawi 00288883
0000310063 ophthalmic signs: refractory disturbances; modality: medical renal replacement therapy; cysts on ultrasound: yes; histopathology: yes - nephronophthisis Familial, autosomal recessive 12y - 7y polyuria and polydipsia - LOVD 00418768
0000310064 ophthalmic signs: refractory disturbances; modality: renal transplantation; cysts on ultrasound: yes; histopathology: no data - nephronophthisis Familial, autosomal recessive 17y - 14y acute on chronic renal failure - LOVD 00418769
0000310067 5y: diagnosed with ocular motor apraxia, confirmed by reexamination at 19y, with strabismus concomitans convergens alternans; visual acuity, 1y: 0.15; 21y right/left eye: 0.4 / 0.5; no fundus abnormalities; 7y: polyuria and polydipsia; 20y: kidney biopsy confirmed the diagnosis of nephronophthisis; serum creatinine: 300 umol/L; creatinine clearance: 33 mL/min/m2, proteinuria 0.8 g/24 h; treated for mild arterial hypertension; no retinitis pigmentosa and optical nerve coloboma - nephronophthisis with ocular motor apraxia type Cogan Familial, autosomal recessive 21y - 5y ocular motor apraxia - LOVD 00418771
0000310068 1y: diagnosed with ocular motor apraxia; 10y: defect in the production of voluntary saccades and an impairment of horizontal attraction movements with compensatory jerking head movements; strabismus convergens alternans and hyperopia; no other neurologic abnormality; 9y: nephronophthisis: polyuria, polydipsia, anemia (9.2 g/dL), and elevated serum creatinine (159 umol/L).; renal ultrasonography: high echogenicity and small cysts at the corticomedullary junction; 11y: kidney allograft; no retinitis pigmentosa and optical nerve coloboma - nephronophthisis with ocular motor apraxia type Cogan Familial, autosomal recessive 13y - - - - LOVD 00418772
0000310069 mild motor developmental delay during his early developmental years; acquired head control at 4m, sitting unassisted at 10m, crawling at 12m, walking unassisted at 18m; development beyond 2y: within the normal range; 11m: diagnosed as having congenital nystagmus and hyperopic astigmatism; 10y: complaints of general fatigue - microscopic hematuria; elevated serum creatinine level at 8.07 mg/dl, and BUN at 150.8 mg/dl, indicating a renal failure state; renal ultrasonography: small cysts at the corticomedullary junction - diagnosis of juvenile nephronophthisis; hemodialysis ; neurologic examination: mild truncal ataxia, dysmetria, tremor, awkwardness of tandem gait, and gaze paretic nystagmus; oculomotor apraxia not found; muscle tone: normal, deep tendon reflex: normal; plantar reflex: flexed, no retinitis pigmentosa or coloboma; intelligence test (WISC-R: Japanese Wechsler Intelligence Scale for Children-Revised): full scale IQ of 87, verbal IQ of 94, and performance IQ of 83; no other neurologic abnormality; magnetic resonance imaging: hypoplasia of the brainstem and vermis, enlargement of the fourth ventricle of which maximum height in the midsagital view was 18.5 mm; measurements of brain structures: t'; (maximum width on the line through the intercolliculus point) and z (width on the line from the right to the left border points between the tegmentum and crus cerebri): shorter than those of normal age matched controls; w'; (maximum width in the middle portion of the pons from the floor of the fourth ventricle to the basis of the pons), u (maximum width between the left most and right most outsides of the cerebral peduncle) and v (width between the left and the right cerebellopontine angles): no - nephronophthisis with ocular motor apraxia type Cogan Isolated (sporadic) 11y - - - - LOVD 00418773
0000310101 serum creatinine rate (mmol/l): 261; calculated glomerular filtration rate (ml/min): 29; proteinuria (g/day): 0.4; haematuria: -; blood pressure (mmhg): 150/90; late enuresis: +; polyuria and polydipsia: +; radiological features: kidneys size: normal; cysts: no; extra renal-disorders:retinal dystrophy - nephronophthisis Familial, autosomal recessive - 19y - - - LOVD 00418804
0000310102 serum creatinine rate (mmol/l): 225; calculated glomerular filtration rate (ml/min): 25; proteinuria (g/day): 0.2; haematuria: -; blood pressure (mmhg): 120/75; late enuresis: -; polyuria and polydipsia: -; radiological features: kidneys size: normal; cysts: 1 cortical (1 cm); extra renal-disorders:no - nephronophthisis Familial, autosomal recessive - 22y - - - LOVD 00418805
0000310103 serum creatinine rate (mmol/l): 442; calculated glomerular filtration rate (ml/min): 12; proteinuria (g/day): 0.4; haematuria: -; blood pressure (mmhg): 115/70; late enuresis: +; polyuria and polydipsia: -; radiological features: kidneys size: reduced; cysts: 1 cortical (1 cm); extra renal-disorders:no - nephronophthisis Familial, autosomal recessive - 22y - - - LOVD 00418806
0000310104 serum creatinine rate (mmol/l): 419; calculated glomerular filtration rate (ml/min): 16; proteinuria (g/day): 1.6; haematuria: -; blood pressure (mmhg): 130/80; late enuresis: -; polyuria and polydipsia: +; radiological features: kidneys size: normal; cysts: no; extra renal-disorders:retinal dystrophy, neurologic bladder - nephronophthisis Familial, autosomal recessive - 25y - - - LOVD 00418807
0000310110 age at renal failure: 19y; age at end-stage renal failure: 19y; no retinal dystrophy - nephronophthisis Familial, autosomal recessive 34y - - - - LOVD 00418813
0000310111 age at renal failure: 11y; age at end-stage renal failure: 11y; no retinal dystrophy - nephronophthisis Familial, autosomal recessive 31y - - - - LOVD 00418814
0000310112 age at renal failure: 18y; age at end-stage renal failure: 19y; retinal dystrophy - nephronophthisis Familial, autosomal recessive 21y - - - - LOVD 00418815
0000310113 age at renal failure: 20y; age at end-stage renal failure: 21y; no retinal dystrophy - nephronophthisis Familial, autosomal recessive 24y - - - - LOVD 00418816
0000310114 age at renal failure: 19y; age at end-stage renal failure: ; no retinal dystrophy - nephronophthisis Familial, autosomal recessive 19y - - - - LOVD 00418817
0000310115 age at renal failure: 25y; age at end-stage renal failure: ; retinal dystrophy - nephronophthisis Familial, autosomal recessive 23y - - - - LOVD 00418818
0000310116 age at renal failure: 15y; age at end-stage renal failure: 15y; no retinal dystrophy - nephronophthisis Familial, autosomal recessive 16y - - - - LOVD 00418819
0000310117 age at renal failure: 20y; age at end-stage renal failure: 24y; no retinal dystrophy - nephronophthisis Familial, autosomal recessive 23y - - - - LOVD 00418820
0000310118 age at end-stage renal failure: 7y; extrarenal manifestations: no data available - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418821
0000310119 age at end-stage renal failure: 11y; extrarenal manifestations: no data available - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418822
0000310120 age at end-stage renal failure: 31y; extrarenal manifestations: retinitis pigmentosa - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418823
0000310121 age at end-stage renal failure: 13y; extrarenal manifestations: retinitis pigmentosa - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418824
0000310122 age at end-stage renal failure: 9y; extrarenal manifestations: retinitis pigmentosa - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418825
0000310123 age at end-stage renal failure: 17y; extrarenal manifestations: retinitis pigmentosa - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418826
0000310124 age at end-stage renal failure: 3y; extrarenal manifestations: liver fibrosis - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418827
0000310125 extrarenal manifestations: no data available - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418828
0000310126 age at end-stage renal failure: 14y; extrarenal manifestations: no data available - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418829
0000310127 age at end-stage renal failure: 16y; extrarenal manifestations: retinitis pigmentosa - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418830
0000310128 age at end-stage renal failure: 11y; extrarenal manifestations: retinitis pigmentosa - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418831
0000310129 age at end-stage renal failure: 4y; extrarenal manifestations: liver fibrosis, cone shaped epiphysis, retinitis pigmentosa - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418832
0000310130 age at end-stage renal failure: extrarenal manifestations: cerebellar vermis hypoplasia - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418833
0000310131 age at end-stage renal failure: 10y; extrarenal manifestations: cerebellar vermis hypoplasia - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418834
0000310132 age at end-stage renal failure: 22y; extrarenal manifestations: ulcerative colitis - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418835
0000310133 age at end-stage renal failure: 19y; extrarenal manifestations: retinitis pigmentosa - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418836
0000310134 age at end-stage renal failure: 1y; extrarenal manifestations: liver fibrosis, infantile nephronophthisis - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418837
0000310135 age at end-stage renal failure: 14y; extrarenal manifestations: liver fibrosis - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418838
0000310136 extrarenal manifestations: infantile nephronophthisis, ocular motor apraxia, polydactyly - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418839
0000310137 age at end-stage renal failure: 1y; extrarenal manifestations: situs inversus, infantile nephronophthisis - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418840
0000310141 initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: none; chronic kidney disease stage at diagnosis: 5; age at developing end-stage renal disease (renal replacement therapy): 2y8m (hemodialysis); cysts on ultrasound: +; histopathologic triad: present; bone age: 2y6m - nephronophthisis Familial, autosomal recessive 3y6m - 1y - - LOVD 00418844
0000310142 initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: none; chronic kidney disease stage at diagnosis: 4; age at developing end-stage renal disease (renal replacement therapy): -; cysts on ultrasound: +; histopathologic triad: not done; bone age: 7y2m - nephronophthisis Familial, autosomal recessive 11y - 4y - - LOVD 00418845
0000310143 initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: none; chronic kidney disease stage at diagnosis: 5; age at developing end-stage renal disease (renal replacement therapy): 12y (hemodialysis); cysts on ultrasound: +; histopathologic triad: not done; bone age: 8y - nephronophthisis Familial, autosomal recessive 12y - 7y - - LOVD 00418846
0000310144 initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: none; chronic kidney disease stage at diagnosis: 4; age at developing end-stage renal disease (renal replacement therapy): 10y10m (renal transplantation); cysts on ultrasound: 0; histopathologic triad: present; bone age: 6y - nephronophthisis Familial, autosomal recessive 10y - 4y - - LOVD 00418847
0000310145 initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: seizures, ocularnonemotor apraxia, retinitis pigmentosa, mental retardation, molar tooth sign; chronic kidney disease stage at diagnosis: 5; age at developing end-stage renal disease (renal replacement therapy): 9y (hemodialysis); cysts on ultrasound: 0; histopathologic triad: not done; bone age: 5y6m - nephronophthisis Familial, autosomal recessive 9y - 4y - - LOVD 00418848
0000310146 initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: none; chronic kidney disease stage at diagnosis: 5; age at developing end-stage renal disease (renal replacement therapy): 10y6m (hemodialysis); cysts on ultrasound: +; histopathologic triad: not done; bone age: y - nephronophthisis Familial, autosomal recessive 10y6m - 4y - - LOVD 00418849
0000310161 age at time of presentation: 7y11m; serum creatinine (mg/dl): 6; haemoglobin (g/dl): 8.1; follow-up data: age at end-stage renal disease (years): 7y11m; ophthalmological findings: kidney transplantation; age at symptom onset (years): 17y; ophthalmological symptoms: impaired night vision, strabismus; decreased visual acuity: present; age at retinopathy (years): 17y; loss of central vision: absent; ophthalmological examination: retinal degeneration - nephronophthisis Familial, autosomal recessive 19y6m - - - - LOVD 00418863
0000310162 age at time of presentation: 15y5m; serum creatinine (mg/dl): 2.4; haemoglobin (g/dl): 10.2; follow-up data: age at end-stage renal disease (years): 18y11m; ophthalmological findings: kidney transplantation; age at symptom onset (years): 20y6m; ophthalmological symptoms: impaired visual acuity; decreased visual acuity: present; age at retinopathy (years): 22y6m; loss of central vision: present; ophthalmological examination: small parafoveal flecks, maculopathy - nephronophthisis Familial, autosomal recessive 25y6m - - - - LOVD 00418864
0000310163 age at time of presentation: 12y11m; serum creatinine (mg/dl): 20.3; haemoglobin (g/dl): 3.8; follow-up data: age at end-stage renal disease (years): 12y11m; ophthalmological findings: kidney transplantation; age at symptom onset (years): 8y; ophthalmological symptoms: nystagmus, amblyopia; decreased visual acuity: present; age at retinopathy (years): 17y6m; loss of central vision: present; ophthalmological examination: fundus parafoveal flecks, maculopathy - nephronophthisis Familial, autosomal recessive 19y5m - - - - LOVD 00418865
0000310164 age at time of presentation: 10y6m; serum creatinine (mg/dl): 2.1; haemoglobin (g/dl): 9.7; follow-up data: age at end-stage renal disease (years): 11y1m; ophthalmological findings: peritoneal dialysis; age at symptom onset (years): 2y; ophthalmological symptoms: high myopia; decreased visual acuity: present; age at retinopathy (years): ; loss of central vision: absent; ophthalmological examination: absent - nephronophthisis Familial, autosomal recessive 15y6m - - - - LOVD 00418866
0000310165 age at time of presentation: 14y; serum creatinine (mg/dl): 16.5; haemoglobin (g/dl): 3.7; follow-up data: age at end-stage renal disease (years): 14y; ophthalmological findings: peritoneal dialysis; age at symptom onset (years): 3y; ophthalmological symptoms: amblyopia, strabismus; decreased visual acuity: present; age at retinopathy (years): 14y5m; loss of central vision: present; ophthalmological examination: fundus parafoveal flecks, maculopathy, choroidal silence - nephronophthisis Familial, autosomal recessive 17y5m - - - - LOVD 00418867
0000310170 - - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418872
0000310171 - - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418873
0000310172 - - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418874
0000310173 - - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418875
0000310174 - - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418876
0000310175 - - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418877
0000310176 - - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418878
0000310177 - - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418879
0000310178 - - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418880
0000310179 - - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418881
0000310180 - - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418882
0000310181 - - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418883
0000310182 - - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418884
0000310183 - - nephronophthisis Familial, autosomal recessive - - - - - LOVD 00418885
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