Research Evidence
Peer-reviewed studies linked via MeSH term "Syndrome, Nail-Patella" from the MEDLINE/PubMed database.
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[Translated article] Congenital and Hereditary Nail Disease.
[object Object], [object Object], [object Object] et al. · Actas Dermosifiliogr · 2024
PMID: 38972583Review
The limb dorsoventral axis: Lmx1b's role in development, pathology, evolution, and regeneration.
[object Object], [object Object], [object Object] et al. · Dev Dyn · 2024
AJKD Atlas of Renal Pathology: Nail-Patella Syndrome-Associated Nephropathy.
[object Object], [object Object], [object Object] et al. · Am J Kidney Dis · 2017
PMID: 28941488Review
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.
[object Object], [object Object], [object Object] et al. · Pediatr Nephrol · 2017
PMID: 27450397Review
The spectrum of nephrocutaneous diseases and associations: Genetic causes of nephrocutaneous disease.
[object Object], [object Object], [object Object] et al. · J Am Acad Dermatol · 2016
PMID: 26775773Review
Tips to diagnose uncommon nail disorders.
[object Object], [object Object] · Dermatol Clin · 2015
PMID: 25828712Review
[Alterations in nails and teeth as a clue for genodermatoses].
[object Object] · Hautarzt · 2014
PMID: 24898505Review
Collagen Type III Glomerulopathies.
[object Object] · Adv Chronic Kidney Dis · 2012
PMID: 22449347Review
Search all PubMed articles for Nail-patella syndrome
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of digit
Very frequent (80-99%)HP:0011297
Aplasia of the distal interphalangeal creases
Very frequent (80-99%)HP:0001032
Nail disease
Very frequent (80-99%)HP:0001597
Abnormal gastrointestinal tract morphology
Frequent (30-79%)HP:0012718
Abnormal iris pigmentation
Frequent (30-79%)HP:0008034
Abnormality of the elbow
Frequent (30-79%)HP:0009811
Abnormality of the knee
Frequent (30-79%)HP:0002815
Arthritis
Frequent (30-79%)HP:0001369
Back pain
Frequent (30-79%)HP:0003418
Decreased muscle mass
Frequent (30-79%)HP:0003199
Dropped arches
Frequent (30-79%)HP:0001763
Dyschezia
Frequent (30-79%)HP:0002019
Dysplastic fingernails
Frequent (30-79%)HP:0100798
Equinovarus deformity
Frequent (30-79%)HP:0008110
Fixed flexion at the elbow joint
Frequent (30-79%)HP:0002987
Flexion contractures
Frequent (30-79%)HP:0001371
Iliac horns
Frequent (30-79%)HP:0009780
Renal anomalies
Frequent (30-79%)HP:0000077
Abnormal cranial nerve physiology
Occasional (5-29%)HP:0031910
Abnormal kneecap
Occasional (5-29%)HP:0003045
Abnormal tibia morphology
Occasional (5-29%)HP:0002992
Abnormal toenail development
Occasional (5-29%)HP:0100797
Abnormality of the thighbone
Occasional (5-29%)HP:0002823
Achilles tendon contracture
Occasional (5-29%)HP:0001771
Acroparesthesia
Occasional (5-29%)HP:0031006
Bilateral fifth digit clinodactyly
Occasional (5-29%)HP:0004209
Blood in urine
Occasional (5-29%)HP:0000790
Contracture of the distal interphalangeal joint of the fingers
Occasional (5-29%)HP:0009697
Decreased bone mineral density Z score
Occasional (5-29%)HP:0004349
Dislocated patellae
Occasional (5-29%)HP:0002999
Related Conditions
Quick Facts
- SNOMED CT
- 22199006
- UMLS CUI
- C0027341
- Fully Specified Name
- Nail-patella syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.