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X-linked dominant disorder that causes rickets
X-linked hypophosphatemia (XLH) is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of dietary deficiency rickets in
X-linked_hypophosphatemia
Sex-specific patterns of inheritance
chromosome (autosome). In humans, these are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ
Sex_linkage
Lack of phosphate in the blood
Hypophosphatemia is an electrolyte disorder in which there is a low level of phosphate in the blood. Symptoms may include weakness, trouble breathing,
Hypophosphatemia
Mode of inheritance
resistant rickets: X-linked hypophosphatemia Rett syndrome (95% of cases are due to sporadic mutations(not inherited)) Fragile-X syndrome Most cases
X-linked_dominant_inheritance
Monoclonal antibody designed to treat X-linked hypophosphatemia
monoclonal antibody medication approved 2018 for the treatment of X-linked hypophosphatemia and tumor-induced osteomalacia. In the European Union and the
Burosumab
Softening of bones due to impaired bone metabolism
osteomalacia and odontomalacia observed in hypophosphatasia (HPP) and X-linked hypophosphatemia (XLH). The most common cause of osteomalacia is a deficiency of
Osteomalacia
Protein-coding gene in the species Homo sapiens
odontomalacia observed in hypophosphatasia and X-linked hypophosphatemia. Mutation of PHEX leads to X-linked hypophosphatemia. GRCh38: Ensembl release 89: ENSG00000102174
PHEX
American biopharmaceutical company
brand name Crysvita) was approved in 2018 by the FDA to treat X-linked hypophosphatemia. In 2020 the drug was approved to treat tumor-induced osteomalacia
Ultragenyx
Cell type
phosphorus bones and teeth soften, and muscles become weak, as in X-linked hypophosphatemia. Osteocytes synthesize sclerostin, a secreted protein that inhibits
Osteocyte
Mammalian protein found in Homo sapiens
endopeptidase homolog X-linked) is one such enzyme, which extensively degrades OPN, and whose inactivating gene mutations (in X-linked hypophosphatemia, XLH) lead
Osteopontin
Medical condition
losses of phosphate partially correct. ADHR may be lumped in with X-linked hypophosphatemia under general terms such as hypophosphatemic rickets. Hypophosphatemic
Autosomal dominant hypophosphatemic rickets
Autosomal_dominant_hypophosphatemic_rickets
Abnormal inward turning of the knees when straightening the legs
genetic abnormalities, called vitamin D-resistant rickets or X-linked hypophosphatemia. Osteochondrodysplasia are a variable group of genetic bone diseases
Genu_valgum
Brazilian para table tennis player
Parinos was diagnosed at a young age with a rare disease called X-linked hypophosphatemia (XLH) when she found walking unaided painful. "Jennyfer Marques
Jennyfer_Marques_Parinos
Medical condition
populations, such as those of European and Middle Eastern descent. X-linked hypophosphatemia Rickets Vitamin D deficiency Laroche M, Boyer JF (October 2005)
Phosphate_diabetes
Protein found in humans
non-nutritional diseases of hypophosphatemia: aside from autosomal dominant hypophosphatemic rickets, X-linked hypophosphatemia, autosomal recessive hypophosphatemic
Fibroblast_growth_factor_23
Childhood weak bone disorder
herring, and salmon. A rare X-linked dominant form exists called vitamin D-resistant rickets or X-linked hypophosphatemia. Cases have been reported in
Rickets
Increase in parathyroid hormone levels
even in the absence of secondary hyperparathyroidism, those with X-Linked hypophosphatemia rickets who are on phosphate treatment are more susceptible to
Hyperparathyroidism
American poet
Colonias Development Council. Black has written about having X-linked hypophosphatemia (XLH), a genetic condition historically referred to as vitamin-D-resistant
Sheila_Black
US Food and Drug Administration drug review program
"FDA approves first therapy for rare inherited form of rickets, x-linked hypophosphatemia". U.S. Food and Drug Administration. March 24, 2020. Archived
Priority_review
Topics referred to by the same term
including calbindins and S100G Vitamin D resistant rickets, X-linked hypophosphatemia, a form of rickets for which ingestion of vitamin D is relatively
Vitamin_D_(disambiguation)
Metabolic bone disease
osteomalacia and odontomalacia observed in hypophosphatasia (HPP) and X-linked hypophosphatemia (XLH).6. When TSNALP enzymatic activity is low, inorganic pyrophosphate
Hypophosphatasia
Type of membrane transport proteins
into the exoplasmic space. An example of a symporter is the sodium-glucose linked transporter or SGLT. The SGLT functions to couple the transport of sodium
Cotransporter
malignancies after allo SCT with Bi20 (FBTA05), a trifunctional anti-CD3 x anti-CD20 antibody and donor lymphocyte infusion". Bone Marrow Transplantation
List of therapeutic monoclonal antibodies
List_of_therapeutic_monoclonal_antibodies
Form of immunotherapy
involves the application of cancer-associated monoclonal antibodies that are linked to a drug-activating enzyme. Systemic administration of a non-toxic agent
Monoclonal_antibody_therapy
2023). "A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype". Frontiers
Shapiro–Senapathy_algorithm
Protein-coding gene in the humans
matrix proteins, enzymes, and relationship to hypophosphatasia and X-linked hypophosphatemia". Periodontology 2000. 63 (1): 102–122. doi:10.1111/prd.12029
ALPL
Medical condition
uncommon disorder resulting in increased renal phosphate excretion, hypophosphatemia and osteomalacia. It is most often caused by small and benign, phosphaturic
Oncogenic_osteomalacia
Chemical compound
medicine, monopotassium phosphate is used for phosphate substitution in hypophosphatemia. A large KDP crystal, used in the form of slices at the National Ignition
Monopotassium_phosphate
Bristol-Myers Squibb renal cell carcinoma Burosumab Kyowa Hakko Kirin X-linked hypophosphatemia Osimertinib AstraZeneca metastatic non-small cell lung cancer
List of drugs granted breakthrough therapy designation
List_of_drugs_granted_breakthrough_therapy_designation
Medical condition
function tests; LMWP: low molecular weight proteinuria; XD: X-linked dominant; XR: X-linked recessive; PTH: parathyroid hormone "tubulopathy" at Dorland's
Tubulopathy
Abnormal presence of spherical red blood cells in the blood
spherocytosis Intravenous water infusion or drowning (fresh water) Hypophosphatemia Bartonellosis Snake bites Hyposplenism Rh-null phenotype Spherocytosis
Spherocytosis
Mosaic genetic disorder affecting the bone, skin and endocrine systems
Cushing's syndrome is a very rare feature that develops only in infancy. Hypophosphatemia due to increased fibroblast growth factor 23 production may lead to
McCune–Albright_syndrome
Illness caused by the sudden feeding of a malnourished individual
Patients can develop fluid and electrolyte imbalance, especially hypophosphatemia, along with neurologic, pulmonary, cardiac, neuromuscular, and hematologic
Refeeding_syndrome
Type of X-ray
osteosarcoma, ameloblastoma, renal osteodystrophy affecting jaws and hypophosphatemia. Diagnosis, and pre- and post-surgical assessment of oral and maxillofacial
Panoramic_radiograph
Chemical compound and gastrointestinal medication
commonly reported side effects (<0.5%) include flatulence, headache, hypophosphatemia, xerostomia (dry mouth), and bezoar formation. Use of this drug is
Sucralfate
Chemical element with atomic number 15 (P)
or passing too much of it into the urine. All are characterised by hypophosphatemia, which is a condition of low levels of soluble phosphate levels in
Phosphorus
Protein-coding gene in the species Homo sapiens
phosphate is lost in the urine. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Renal physiology Cotransporter Co-transport
Sodium-dependent phosphate transport protein 2A
Sodium-dependent_phosphate_transport_protein_2A
Eating disorder
doi:10.1016/B978-032303004-5.50103-4. ISBN 978-0-323-03004-5. p. 638: Hypophosphatemia is considered the hallmark of refeeding syndrome, although other imbalances
Anorexia
Protein-coding gene in the species Homo sapiens
formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure
DMP1
Barbiturate medication used to treat seizures and tremors
counterparts. Anticonvulsants affect the bones in many ways. They cause hypophosphatemia, hypocalcemia, low vitamin D levels, and increased parathyroid hormone
Primidone
Vitamin D3, a chemical compound
including rickets. It is also used in the management of familial hypophosphatemia, hypoparathyroidism that is causing low blood calcium, and Fanconi
Cholecalciferol
Condition in which damaged skeletal muscle breaks down rapidly
disease, phosphofructokinase deficiency, glycogen storage diseases VIII, IX, X and XI Lipid metabolism defects: carnitine palmitoyltransferase I and II deficiency
Rhabdomyolysis
Kidney disorder
tubular dysfunction of the Fanconi syndrome are:[citation needed] Hypophosphatemia/hyperphosphaturia Glycosuria Proteinuria/aminoaciduria Hyperuricosuria
Fanconi_syndrome
Abnormal condition of the mind
hypokalemia, hypomagnesemia, hypermagnesemia, hypercalcemia, and hypophosphatemia, but also hypoglycemia, hypoxia, and failure of the liver or kidneys
Psychosis
Protein-coding gene in the species Homo sapiens
while their dentin and enamel defects are largely independent from the hypophosphatemia and appear to be local effects of phosphorylation failure in the secretory
FAM20C
Active form of vitamin D
medication for the treatment of osteoporosis, osteomalacia, familial hypophosphatemia, low blood calcium due to hypoparathyroidism, and low blood calcium
Calcitriol
Insufficient growth or weight gain in children
nutrition. The most serious and common electrolyte abnormality is hypophosphatemia, although sodium abnormalities are common as well. It can also cause
Failure_to_thrive
childhood; 241510; ALPL Hypophosphatasia, infantile; 241500; ALPL Hypophosphatemia, X-linked; 307800; PHEX Hypophosphatemic rickets with hypercalciuria; 241530;
List_of_OMIM_disorder_codes
Chemical compound
insufficiency, refractory rickets (vitamin D resistant rickets), familial hypophosphatemia, hypoparathyroidism, hypocalcemia and renal osteodystrophy and, with
Calcifediol
Rare genetic disorder involving dwarfism and endocrine symptoms
regions. Hypercalcemia (elevated levels of calcium in the blood) and hypophosphatemia (reduced blood levels of phosphate), and elevated urinary calcium and
Jansen's metaphyseal chondrodysplasia
Jansen's_metaphyseal_chondrodysplasia
Cell based gene therapy
reactions were anemia, neutropenia, thrombocytopenia, hypotension, hypophosphatemia, encephalopathy, leukopenia, hypoxia, pyrexia, hyponatremia, hypertension
Brexucabtagene_autoleucel
Medical condition
Tanja; Weissen-Plenz, Gabriele; Fischer, Rudolf-Josef; et al. (2008). "Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated with
Generalized arterial calcification of infancy
Generalized_arterial_calcification_of_infancy
lysis and severe anemia. Other causes of hemolytic lesion include hypophosphatemia, exposure to toxins such as lead, infections such as ehrlichiosis or
List_of_dog_diseases
Medical conditions
parathyroid abnormalities. Iron – Iron deficiency anemia Phosphorus – Hypophosphatemia, causing Oesteopenia Zinc – Zinc deficiencies are believed to be associated
Gluten-sensitive enteropathy–associated conditions
Gluten-sensitive_enteropathy–associated_conditions
Common human medical data ranges for blood test results
1111/j.1365-2257.2006.00812.x. PMC 1618805. PMID 16999719.{{cite journal}}: CS1 maint: multiple names: authors list (link) lymphomation.org > Tests &
Reference ranges for blood tests
Reference_ranges_for_blood_tests
MeSH C16.320.565.618.482 – hypophosphatasia MeSH C16.320.565.618.544 – hypophosphatemia, familial MeSH C16.320.565.618.590 – Menkes kinky hair syndrome MeSH C16
List_of_MeSH_codes_(C16)
MeSH C18.452.648.618.482 – hypophosphatasia MeSH C18.452.648.618.544 – hypophosphatemia, familial MeSH C18.452.648.618.590 – Menkes kinky hair syndrome MeSH C18
List_of_MeSH_codes_(C18)
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X LINKED-HYPOPHOSPHATEMIA
X LINKED-HYPOPHOSPHATEMIA
Boy/Male
American, British, English
Lives by the Linden Tree Hill; From the Island of Linden Trees
Surname or Lastname
English
English : probably a topographic name for someone living in the Lickey Hills, southwest of Birmingham.Perhaps an altered spelling of Scottish Leckie.
Surname or Lastname
Dutch, German, and Jewish (Ashkenazic)
Dutch, German, and Jewish (Ashkenazic) : variant (plural) of Linde.English : variant spelling of Lindon.Belgian and Dutch (van Linden) : habitational name from places called Linden in Brabant and North Brabant.Dutch (van der Linden) : habitational name from any of numerous places called Ter Linde.Irish : reduced form of McLinden.Swedish (Lindén) : ornamental name from lind ‘lime tree’ + the common suffix -én, from the Latin adjectival ending -enius.
Surname or Lastname
Swedish
Swedish : ornamental name from lind ‘lime tree’ + either the German suffix -er denoting an inhabitant, or the surname suffix -ér, derived from the Latin adjectival ending -er(i)us.English (mainly southeastern) : variant of Lind 2.German : habitational name from any of numerous places called Linden or Lindern, named with German Linden ‘lime trees’.
Boy/Male
English
From the linden tree dell.
Female
English
Variant spelling of English Linette, LINNET means "little lake."Â
Girl/Female
American, Australian, British, Christian, English
Lives by the Linden Tree Hill
Girl/Female
American, Australian, Chinese, Danish, German, Norse, Scandinavian, Swedish
Lime; Linden Tree
Surname or Lastname
English
English : variant of Lingard.French : occupational name for a maker of or dealer in linen goods, from Old French linge ‘linen (goods)’ (see Linge 1).
Female
Yiddish
Pet form of Yiddish Bine, BINKE means "bee."
Female
Welsh
Old Welsh name derived from the word eilun, LUNED means "idol, image."
Surname or Lastname
Dutch (van Lingen) and German
Dutch (van Lingen) and German : habitational name from Lingen on the Ems river in Lower Saxony, Westphalia, and the former East Prussia.English (Herefordshire) : habitational name from a place in Herefordshire, so named from an old British stream name, Welsh llyn ‘water’ + possibly cain ‘clear’, ‘beautiful’.
Male
English
Variant spelling of English Lyndon, LINDEN means "lime tree hill." Or from the vocabulary word, linden, meaning "lime tree."
Boy/Male
British, English
From the Island of Linden Trees
Boy/Male
English
Lives by the linden tree.
Boy/Male
American, Australian, British, English
Valley of the Linden Trees
Boy/Male
American, Australian, British, English
From the Linden Tree Hill
Girl/Female
American, Australian, British, Dutch, English, Scottish
A Lake; A Place of Linden Trees
Female
English
Feminine form of English unisex Lindsay, LINSEY means "Lincoln's wetlands."
Girl/Female
English
The linden tree.
X LINKED-HYPOPHOSPHATEMIA
X LINKED-HYPOPHOSPHATEMIA
X LINKED-HYPOPHOSPHATEMIA
X LINKED-HYPOPHOSPHATEMIA
X LINKED-HYPOPHOSPHATEMIA
X LINKED-HYPOPHOSPHATEMIA
X LINKED-HYPOPHOSPHATEMIA
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