Nail-Patella Syndrome malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Nail-Patella Syndrome:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Europe); Age of onset: Childhood,Infancy,Neonatal
Inheritance: autosomal dominant inheritance
Penetrance: nps is fully penetrant, although the range and severity of symptoms may be extremely variable...
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Nephrological diseases, Bone diseases, Skin diseases
ICD10: 30 29
Rare eye diseases
Rare renal diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:47 Nail-patella syndrome is an inherited condition characterized by abnormalities of the nails, knees, elbows, and pelvis. Some affected people may also experience problems in other areas of the body such as the kidneys and eyes. The severity of the condition and the associated signs and symptoms can vary significantly from person to person, even among members of the same family. Nail-patella syndrome is caused by changes (mutations) in the LMX1B gene and is inherited in an autosomal dominant manner. Treatment is supportive and based on the signs and symptoms present in each person. Last updated: 2/2/2016
MalaCards based summary: Nail-Patella Syndrome, also known as fong disease, is related to niemann-pick disease and salcedo syndrome, and has symptoms including sprengel anomaly, abnormality of the fingernails and limitation of joint mobility. An important gene associated with Nail-Patella Syndrome is LMX1B (LIM Homeobox Transcription Factor 1 Beta), and among its related pathways are Protein digestion and absorption and Nephrin/Neph1 signaling in the kidney podocyte. Affiliated tissues include kidney, eye and bone, and related mouse phenotypes are renal/urinary system and vision/eye.
UniProtKB/Swiss-Prot:69 Nail-patella syndrome: Disease that cause abnormal skeletal patterning and renal dysplasia.
Genetics Home Reference:25 Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.
Wikipedia:70 Nail–patella syndrome (NPS) (also known as \"HOOD syndrome\") is a genetic disorder that results in... more...
Description from OMIM:51 161200
GeneReviews for NBK1132
Human phenotypes related to Nail-Patella Syndrome:63 53 (show all 67)
UMLS symptoms related to Nail-Patella Syndrome:arthralgia, metatarsalgia, koilonychia, onychomadesis, nail discomfort, nail bed hemorrhage, nail bed tenderness, abnormal nail growth
MalaCards organs/tissues related to Nail-Patella Syndrome:35
Kidney, Eye, Bone, Skin, Heart, Lymph node, Colon
MGI Mouse Phenotypes related to Nail-Patella Syndrome:40
Articles related to Nail-Patella Syndrome:(show top 50) (show all 231)
UniProtKB/Swiss-Prot genetic disease variations for Nail-Patella Syndrome:69 (show all 30)
Clinvar genetic disease variations for Nail-Patella Syndrome:5 (show all 15)
Search GEO for disease gene expression data for Nail-Patella Syndrome.
Cellular components related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet