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Nail–patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail–patella" can be very misleading because the syndrome often affects many other areas of the body, including even the production of ...
16917 Ensembl ENSG00000136944 ENSMUSG00000038765 UniProt O60663 O88609 RefSeq (mRNA) NM_002316 NM_001174146 NM_001174147 NM_010725 RefSeq (protein) NP_001167617 NP_001167618 NP_002307 NP_034855 Location (UCSC) Chr 9: 126.61 – 126.7 Mb Chr 2: 33.45 – 33.53 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse LIM homeobox transcription factor 1-beta, also known as LMX1B, is a protein ...
Nail-patella syndrome. Neuro-Bechet’s autoimmune disease. Neurofibromatosis. Neuropathy. Osteoarthritis. Ovarian Cysts. Parkinson’s disease. Polycystic kidney disease (PKD) Post-Concussion ...
This finding was important as they were the first to note that it was a benign disorder that is separate from the more severe nail-patella syndrome. [35] Other common names for ischiopatellar syndrome are small patella syndrome (SPS), since the patellae are often small or absent in patients who have this syndrome, and coxo-podo-patellaire syndrome.
Several gene mutations have been identified underlying these anomalies, with the majority of ASD genes encoding transcriptional regulators.In this review, the role of the ASD genes, PITX2 and FOXC1, is considered in relation to the embryology of the anterior segment, the biochemical function of these proteins, and their role in development and disease aetiology.
Treatment of glaucoma in iridogoniodysgenesis is primarily surgical. [citation needed] It is listed as a "rare disease" by the Office of Rare Diseases (ORD). [3] This means that Iridogoniodysgenesis, dominant type, or a subtype of Iridogoniodysgenesis, dominant type, affects less than 200,000 people in the US population.
Tooth and nail syndrome (hypodontia with nail dysgenesis, Witkop syndrome) Townes–Brocks syndrome; Transient bullous dermolysis of the newborn Xeroderma pigmentosum; Treacher Collins syndrome (Treacher Collins–Franceschetti syndrome) Tricho–dento–osseous syndrome; Tricho–rhino–phalangeal syndrome; Tuberous sclerosis (Bourneville ...
Congenital onychodysplasia of the index fingers is defined by the presence of the condition at birth, either unilateral or bilateral index finger involvement, variable distortion of the nail or lunula, and polyonychia, micronychia, anonychia, hemi-onychogryphosis, or malalignment.