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)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
11
(35.4%)		 2642772
 Shoulder girdle dysplasia associated with nail patella syndrome. A case report and literature review.
Loomer RL.
Clin Orthop Relat Res. 1989;(238):112-6.
Iliac horns Partial absence of finger
Acromion Adult Females Homo sapiens Nail-Patella Syndrome
12
(35.3%)		 15949005
 Congenital brachydactyly and nail hypoplasia: clue to bone-dependent nail formation.
Seitz CS, Hamm H.
Br J Dermatol. 2005;152(6):1339-42.
Brachydactyly
Adult Congenital Foot Deformity Females Homo sapiens Nails, Malformed
13
(32.7%)		 9134300
 Congenital deficiency of the fibula with ipsilateral iliac horn and absence of the kidney.
Haga N, Lee K, Nakamura K, Okazaki Y, Mamada K, Kurokawa T.
Clin Dysmorphol. 1997;6(2):177-80.
Genu valgum
Females Fibula Homo sapiens Infant, Newborn Kidney
14
(32.2%)		 1264429
 Congenital deformities about the knee.
Ferrone JD Jr.
Orthop Clin North Am. 1976;7(2):323-30.
Joint laxity Epiphyseal dysplasia
Arthropathy Bone Diseases, Developmental Congenital Dysplasia Of The Hip Contracture Homo sapiens Infant Infant, Newborn Knee Muscle Tissue Patella
15
(31.4%)		 9742578
 Ultrasound prenatal diagnosis of the Nail-Patella syndrome.
Feingold M, Itzchak Y, Goodman RM.
Prenat Diagn. 1998;18(8):854-6.
Nephropathy Cervical ribs Iliac horns
Adult Females Gestational Age Homo sapiens Nail-Patella Syndrome Ultrasonography, Prenatal
16
(30.2%)		 30627596
 Brown tumor diagnosed three years after parathyroidectomy in a patient with nail-patella syndrome: A case report.
Toriu N, Ueno T, Mizuno H, Sekine A, Hayami N, Hiramatsu R, Sumida K, Yamanouchi M, Hasegawa E, Suwabe T, Hoshino J, Sawa N, Takaichi K, Fujii T, Hasegawa T, Amizuka N, Yanagita M, Ubara Y.
Bone Rep. 2019;10:100187.
Hyperparathyroidism Osteoporosis Subperiosteal bone resorption
CTSK
17
(29.2%)		 30084575
 Schizophrenia and Nail Patella Syndrome: The Dopamine Connection.
Nashelsky Zolotov L, Reinstein E.
Isr Med Assoc J. 2018;20(8):496-498.
Iliac horns
LMX1B
c|INS|546_547|ACCG p|FS|E|183|T|
Adult DNA Mutational Analysis Homo sapiens LIM-Homeodomain Proteins Male Mutation Nail-Patella Syndrome Schizophrenia
17
(29.2%)		 28538898
(5429124)
 Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding.
Bunjes BG, Fernandes MDCF.
An Bras Dermatol. 2017;92(2):273-274.
Iliac horns
Adult Homo sapiens Knee Male Nail-Patella Syndrome Nails, Malformed Young Adult
17
(29.2%)		 28335748
(5363042)
 Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
Nakata T, Ishida R, Mihara Y, Fujii A, Inoue Y, Kusaba T, Isojima T, Harita Y, Kanda C, Kitanaka S, Tamagaki K.
BMC Nephrol. 2017;18(1):100.
Focal segmental glomerulosclerosis Iliac horns
LMX1B
c|SUB|G|819+1|A
Adrenal Cortex Hormones Females Homo sapiens Kidney LIM-Homeodomain Proteins Mutation Nail-Patella Syndrome Nephrotic Syndrome Young Adult
17
(29.2%)		 28145333
 Nail Patella Syndrome.
Jain VK, Pahwa US, Dashore A.
Indian J Dermatol Venereol Leprol. 1987;53(3):176-178.
Iliac horns
        

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