Phenotypes for disease #00134 (NPS (nail-patella syndrome (NPS)), OMIM:161200)

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Diagnosis/Initial: initial diagnosis, before molecular testing

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Protein: result from protein staining

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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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16 entries on 1 page. Showing entries 1 - 16.

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Phenotype ID	Diagnosis/Initial	Inheritance	Age/Examination	Diagnosis/Definite	Age/Diagnosis	Age/Onset	Phenotype/Onset	Phenotype details	Protein	Owner	Individual ID
0000027781	-	Unknown	-	-	-	-	-	-	-	Johan den Dunnen	00029821
0000029034	-	Isolated (sporadic)	-	-	-	-	-	Nail dysplasia, bilateral agenesis of the thumbnails, instability of patella, hypoplastic patellae, dislocation of the left patella, radio-ulnar synostosis, elbow flexion, abduction of the hips, bilateral equinovarus, bilateral clinodactyly of the fifth finger	-	Sophie Nambot	00038515
0000029036	-	Isolated (sporadic)	04y	-	-	-	-	bilateral bowed radial diaphyses with absent radial cupules, bilateral coxa valga, fingernail dysplasia, thoraco-lumbar scoliosis with double convexity, leg asymmetry, right foot valgus,instability of the patella, normal renal function	-	Sophie Nambot	00038516
0000029039	-	Isolated (sporadic)	-	-	-	-	-	scoliosis, equinovarus feet, hypoplastic patella, limited elbow extension, hypoplastic nails predominantly affecting the thumbs, no renal disorder	-	Sophie Nambot	00038520
0000029040	-	Isolated (sporadic)	-	-	-	-	-	flexus adductus thumbs, bent hands with overlapping fingers, limited joint mobility especially at elbows and knees, left equinovarus, talus of the right foot, short and stocky foot, absent patella, bilateral agenesis of the thumb nails, dysplasia of the other fingernails, thoracic kyphosis	-	Sophie Nambot	00038521
0000059594	-	Familial	-	-	-	-	-	-	-	Gemeinschaftspraxis für Humangenetik Dresden	00079878
0000081916	-	Familial, autosomal dominant	-	-	-	-	-	see paper; ...	-	Fabienne Escande	00029680
0000081917	-	Familial, autosomal dominant	-	-	-	-	-	see paper; ...	-	Fabienne Escande	00029682
0000081918	-	Familial, autosomal dominant	-	-	-	-	-	see paper; ...	-	Fabienne Escande	00029721
0000162081	Myopathy, dd Nail patella syndrome	Unknown	-	-	-	-	-	-	-	Gemeinschaftspraxis für Humangenetik Dresden	00213629
0000223092	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Yutaka Harita	00295521
0000223093	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Yutaka Harita	00295521
0000223178	nail-patella syndrome	Isolated (sporadic)	14y	NPS	-	-	-	proteinuria detected by urinary screening program school children; hypoplastic nails, limited extension elbows; radiologic examination absent patella and iliac horns; iris nodules indicated in angulus iridocornealis by ophthalmologist; urine severe proteinuria (urine protein 1.5–2.5 g/d), no hematuria; serum total protein of 5.6 g/dL, albumin 3.3 g/dL, blood urea nitrogen 14 mg/dL, creatinine 0.53 mg/dL; creatinine clearance 129 mL/min; renal biopsy minimal glomerular change detected with light microscopy, electron microscopy NPS specific histologic findings irregular thickening glomerular basement membrane contained patchy electron-lucent areas (moth-eaten appearance), fibers with striated collagen periodicity	-	Johan den Dunnen	00295614
0000223180	nail-patella syndrome	Familial, autosomal dominant	03y	NPS	-	-	-	proteinuria, hematuria, absent nails thumb and index fingers, hypoplastic nails in others; limited extension and supination elbow joints; urine mild hematuria, mild proteinuria, glucosuria; serum total protein 6.7 g/dL, albumin 3.5 g/dL, blood urea nitrogen 7 mg/dL, creatinine 0.2 mg/dL, uric acid 3.2 mg/dL, sodium 141 mEq/L, potassium 4.4 mEq/L, chloride 105 mEq/L, calcium 9.8mg/dL, phosphate 4.8 mg/dL, glucose 108 mg/dL; radiology iliac horns, absent patellae; no glaucoma; paternal grandfather died (35y) from renal insufficiency, father and paternal uncle proteinuria, hypoplastic nails	-	Johan den Dunnen	00001375
0000239031	nail patella syndrome	Familial, autosomal dominant	-	-	-	1d	-	bilateral clinodactyly and the fingernails dysplasia, bilateral coxa valga ; no eye anomalies; bilateral renal hypodysplasia and bilateral VUR grade III; kidney neonatale renal failure with serum creatinine concentration 2.3 mg/dl, ultrasonographic evidence of small kidney, associated with both hyperechogenicity and lack of cortical-medullary differentiation; 7y-renal transplant	-	Susanna Negrisolo	00315279
0000347932	Nail-patella syndrome	Unknown	-	161200	-	-	-	-	-	Gemeinschaftspraxis für Humangenetik Dresden	00460204

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Global Variome shared LOVD

FBN1 (fibrillin 1)