Nail-patella syndrome

Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.



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Narrow down the case reports



Total: 104 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(45.9%)		 29554154
 Nail-patella syndrome: clinical clues for making the diagnosis.
Price A, Cervantes J, Lindsey S, Aickara D, Hu S.
Cutis. 2018;101(2):126-129.
Glaucoma Patellar hypoplasia
Homo sapiens Male Nail-Patella Syndrome
1
(45.9%)		 18634531
 [The nail-patella syndrome: rare genetically determined cause of proteinuria].
Zarzecki M, Nieszporek T, Chudek J, Wiecek A.
Pol Arch Med Wewn. 2006;116(6):1192-9.
Proteinuria Patellar hypoplasia
LMX1B
p|SUB|R|200|Q;RS#:121909491
Adult Females Genetic Predisposition to Disease Homeodomain Proteins Homo sapiens LIM-Homeodomain Proteins Male Nail-Patella Syndrome Proteinuria
1
(45.9%)		 18549487
(2438370)
 Isolated loss of inferior pubic ramus: a case report.
Saber A.
J Med Case Rep. 2008;2:202.
Patellar hypoplasia
1
(45.9%)		 16085960
 [Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene].
Szczaluba K, Obersztyn E, Kozlowski K, Ravazzolo R, Golabek B, Mazurczak T.
Med Wieku Rozwoj. 2005;9(2):195-203.
Nail dysplasia Patellar aplasia
LMX1B
p|SUB|Q|245|E
Adult Child, Preschool DNA Mutational Analysis Females Genetic Polymorphism Homeodomain Proteins Homo sapiens LIM-Homeodomain Proteins Male Nail-Patella Syndrome Point Mutation Ultrasonography
1
(45.9%)		 9133358
 Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome.
Azouz EM, Kozlowski K.
Pediatr Radiol. 1997;27(5):432-5.
Patellar hypoplasia
Bone Diseases, Developmental Child, Preschool Differential Diagnosis Homo sapiens Male Nail-Patella Syndrome Patella Syndrome
1
(45.9%)		 8154501
 Inherited diseases of the glomerular basement membrane.
Bodziak KA, Hammond WS, Molitoris BA.
Am J Kidney Dis. 1994;23(4):605-18.
Glomerulonephritis Patellar hypoplasia
COL5A1
Adult Autoantigens Collagen Type IV Females Homo sapiens Kidney Glomerulus Male Nail-Patella Syndrome
1
(45.9%)		 3225824
 Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy.
Looij BJ Jr, te Slaa RL, Hogewind BL, van de Kamp JJ.
J Med Genet. 1988;25(10):682-6.
Nephropathy Patellar hypoplasia
Adult Females Genetic Counseling Homo sapiens Kidney Diseases Male Nail-Patella Syndrome
8
(41.0%)		 27158442
(4857746)
 Case report: congenital dislocation of the radial head -a two-in-one approach.
Karuppal R, Marthya A, Raman RV, Somasundaran S.
F1000Res. 2014;3:22.
Radial bowing
9
(37.8%)		 16521531
 [Familial nail patella-syndrome].
Orlowski J.
Chir Narzadow Ruchu Ortop Pol. 2005;70(4):291-4.
Nephropathy Dislocated radial head
Adult Child Females Homo sapiens Male Middle Aged Nail-Patella Syndrome
9
(37.8%)		 12645195
 Nail-patella syndrome with renal involvement and antecubital pterygia.
Lee JJ, Chiu YW, Kuo YT, Chen HC, Hwang SJ.
J Formos Med Assoc. 2002;101(9):655-60.
Proteinuria Hypoplastic radial head
Adult Elbow Females Glomerulonephritis, Membranoproliferative Homo sapiens Nail-Patella Syndrome Proteinuria Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 32

HPO ID Term Frequency
HP:0001231 Abnormal fingernail morphology Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0001598 Concave nail Very frequent (99-80%)
HP:0001800 Hypoplastic toenails Very frequent (99-80%)
HP:0001807 Ridged nail Very frequent (99-80%)
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0002967 Cubitus valgus Very frequent (99-80%)
HP:0002999 Patellar dislocation Very frequent (99-80%)
HP:0005692 Joint hyperflexibility Very frequent (99-80%)
HP:0006498 Aplasia/Hypoplasia of the patella Very frequent (99-80%)
HP:0006650 Thickening of the lateral border of the scapula Very frequent (99-80%)
HP:0008388 Abnormal toenail morphology Very frequent (99-80%)
HP:0009780 Iliac horns Very frequent (99-80%)
HP:0009811 Abnormality of the elbow Very frequent (99-80%)
HP:0010624 Aplastic/hypoplastic toenail Very frequent (99-80%)
HP:0100777 Exostoses Very frequent (99-80%)
HP:0000093 Proteinuria Frequent (79-30%)
HP:0000100 Nephrotic syndrome Frequent (79-30%)
HP:0001373 Joint dislocation Frequent (79-30%)
HP:0001386 Joint swelling Frequent (79-30%)
HP:0002758 Osteoarthritis Frequent (79-30%)
HP:0002814 Abnormality of the lower limb Frequent (79-30%)
HP:0002817 Abnormality of the upper limb Frequent (79-30%)
HP:0000083 Renal insufficiency Occasional (29-5%)
HP:0000112 Nephropathy Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000501 Glaucoma Occasional (29-5%)
HP:0000518 Cataract Occasional (29-5%)
HP:0000790 Hematuria Occasional (29-5%)
HP:0000822 Hypertension Occasional (29-5%)
HP:0002633 Vasculitis Occasional (29-5%)
HP:0100820 Glomerulopathy Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 35

HPO ID Term # of case reports
HP:0009780 Iliac horns 14
HP:0002164 Nail dysplasia 9
HP:0000112 Nephropathy 8
HP:0009760 Antecubital pterygium 5
HP:0000093 Proteinuria 3
HP:0000100 Nephrotic syndrome 3
HP:0003065 Patellar hypoplasia 3
HP:0000083 Renal insufficiency 1
HP:0000099 Glomerulonephritis 1
HP:0000891 Cervical ribs 1
HP:0000969 Edema 1
HP:0000975 Hyperhidrosis 1
HP:0001371 Flexion contracture 1
HP:0001597 Abnormality of the nail 1
HP:0001658 Myocardial infarction 1
HP:0001798 Anonychia 1
HP:0001818 Paronychia 1
HP:0001875 Neutropenia 1
HP:0002014 Diarrhea 1
HP:0002617 Dilatation 1
HP:0002758 Osteoarthritis 1
HP:0002907 Microscopic hematuria 1
HP:0003040 Arthropathy 1
HP:0004322 Short stature 1
HP:0005575 Hemolytic-uremic syndrome 1
HP:0006443 Patellar aplasia 1
HP:0006702 Coronary artery dissection 1
HP:0007906 Ocular hypertension 1
HP:0012108 Open angle glaucoma 1
HP:0012553 Hypoplastic thumbnail 1
HP:0012578 Membranous nephropathy 1
HP:0012722 Heart block 1
HP:0100601 Eclampsia 1
HP:0100798 Fingernail dysplasia 1
HP:0100820 Glomerulopathy 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
LMX1B LIM homeobox transcription factor 1 beta 4010