Phenotypes associated with the disease nail-patella syndrome (OMIM:161200, an entry in Online Mendelian Inheritance in Man):
- Keratoconus (HP:0000563, a Human Phenotype Ontology term): A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. Evidence: IEA. (OMIM:161200)
- Limited elbow extension (HP:0001377, a Human Phenotype Ontology term): Limited ability to straighten the arm at the elbow joint. Evidence: PCS. Frequency: 167/240. (PMID:12624132)
- Nephrotic syndrome (HP:0000100, a Human Phenotype Ontology term): Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. Evidence: IEA. (OMIM:161200)
- Short stature (HP:0004322, a Human Phenotype Ontology term): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: IEA. (OMIM:161200)
- Absence of pectoralis minor muscle (HP:0005255, a Human Phenotype Ontology term): Aplasia (congenital absence) of the pectoralis minor. Evidence: IEA. (OMIM:161200)
- Renal insufficiency (HP:0000083, a Human Phenotype Ontology term): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: IEA. (OMIM:161200)
- Absent distal interphalangeal creases (HP:0001032, a Human Phenotype Ontology term): Absence of the distal interphalangeal flexion creases of the fingers. Evidence: PCS. Frequency: 114/119. (PMID:12624132)
- Microcornea (HP:0000482, a Human Phenotype Ontology term): A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. Evidence: IEA. (OMIM:161200)
- Iliac horns (HP:0009780, a Human Phenotype Ontology term): Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic. Evidence: PCS. Frequency: 34/50. (PMID:12624132)
- Microphakia (HP:0012376, a Human Phenotype Ontology term): Abnormal smallness of the lens. Evidence: TAS. (OMIM:161200)
- Antecubital pterygium (HP:0009760, a Human Phenotype Ontology term): Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. Evidence: PCS. Frequency: 15/123. (PMID:12624132)
- Cataract (HP:0000518, a Human Phenotype Ontology term): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. (OMIM:161200)
- Lester's sign (HP:0009781, a Human Phenotype Ontology term): A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape. Evidence: IEA. (OMIM:161200)
- Ridged nail (HP:0001807, a Human Phenotype Ontology term): Longitudinal, linear prominences in the nail plate. Evidence: IEA. (OMIM:161200)
- Biceps aplasia (HP:0009783, a Human Phenotype Ontology term): Absence of the biceps muscle. Evidence: IEA. (OMIM:161200)
- Lumbar hyperlordosis (HP:0002938, a Human Phenotype Ontology term): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. Frequency: 41/87. (PMID:12624132)
- Thickening of the lateral border of the scapula (HP:0006650, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:161200)
- Triceps aplasia (HP:0009785, a Human Phenotype Ontology term): Absence of the triceps muscle. Evidence: IEA. (OMIM:161200)
- Patellar dislocation (HP:0002999, a Human Phenotype Ontology term): The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. Evidence: PCS. Frequency: 30/118. (PMID:12624132)
- Quadriceps aplasia (HP:0009788, a Human Phenotype Ontology term): Absence of the quadriceps muscle. Evidence: IEA. (OMIM:161200)
- Spina bifida (HP:0002414, a Human Phenotype Ontology term): Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. Evidence: IEA. (OMIM:161200)
- Glenoid fossa hypoplasia (HP:0006633, a Human Phenotype Ontology term): Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. Evidence: IEA. (OMIM:161200)
- Pes planus (HP:0001763, a Human Phenotype Ontology term): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: PCS. Frequency: 76/118. (PMID:12624132)
- Disproportionate prominence of the femoral medial condyle (HP:0006437, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:161200)
- Hypoplasia of first ribs (HP:0006657, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:161200)
- Glomerulonephritis (HP:0000099, a Human Phenotype Ontology term): Inflammation of the renal glomeruli. Evidence: IEA. (OMIM:161200)
- Cleft palate (HP:0000175, a Human Phenotype Ontology term): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: IEA. (OMIM:161200)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:161200)
- Talipes equinovarus (HP:0001762, a Human Phenotype Ontology term): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 23/122. (PMID:12624132)
- Hematuria (HP:0000790, a Human Phenotype Ontology term): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: IEA. (OMIM:161200)
- Patellar hypoplasia (HP:0003065, a Human Phenotype Ontology term): Underdevelopment of the patella. Evidence: PCS. Frequency: 179/237. (PMID:12624132)
- Proteinuria (HP:0000093, a Human Phenotype Ontology term): Increased levels of protein in the urine. Evidence: IEA. (OMIM:161200)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: IEA. (OMIM:161200)
- Ptosis (HP:0000508, a Human Phenotype Ontology term): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: IEA. (OMIM:161200)
- Pectus excavatum (HP:0000767, a Human Phenotype Ontology term): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: IEA. (OMIM:161200)
- Patellar aplasia (HP:0006443, a Human Phenotype Ontology term): Absence of the patella. Evidence: PCS. Frequency: 21/237. (PMID:12624132)
- Clinodactyly of the 5th finger (HP:0004209, a Human Phenotype Ontology term): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: IEA. (OMIM:161200)
- Back pain (HP:0003418, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: PCS. Frequency: 66/120. (PMID:12624132)
- Concave nail (HP:0001598, a Human Phenotype Ontology term): The natural longitudinal (posterodistal) convex arch is not present or is inverted. Evidence: IEA. (OMIM:161200)
- Elongated radius (HP:0006424, a Human Phenotype Ontology term): Increased length of the radius. Evidence: TAS. (OMIM:161200)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:161200)
- Cleft upper lip (HP:0000204, a Human Phenotype Ontology term): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: IEA. (OMIM:161200)
- Glaucoma (HP:0000501, a Human Phenotype Ontology term): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: IEA. (OMIM:161200)
- Anonychia (HP:0001798, a Human Phenotype Ontology term): Aplasia of the nail. Evidence: IEA. (OMIM:161200)
- Hypoplastic radial head (HP:0003997, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:161200)