This streamlined new edition covers the latest on genetics, neurology, infectious disease, melamine poisoning, sexual identity and adolescent homosexuality, psychosis associated with epilepsy, and more. [books.google.com]

(CDLS2) [MIM: 300590 ] SMCHD1 A6NHR9 non-pleiotropic Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM: 158901 ] SMOC1 Q9H4F8 non-pleiotropic Ophthalmoacromelic syndrome (OAS) [MIM: 206920 ] SNIP1 Q8TAD8 non-pleiotropic Psychomotor retardation, epilepsy [sbg.bio.ic.ac.uk]

Burning mouth syndrome C3 glomerulonephritis CACH syndrome CACNA1A gene mutation Camurati-Engelmann disease Capillary malformation Capillary malformation - arteriovenous malformation Cat-scratch disease Cardiofaciocutaneous syndrome Celiac disease, epilepsy [sanfordresearch.org]

[…] idiopathic generalized,susceptibility to,8,612899 SCARB2 Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 MYH9 Epstein syndrome,153650 GLA Fabry disease, 301500 GLA Fabry disease, cardiac variant, 301500 PTH1R Failure of tooth [gsdseq.ir]

This and other reasons may explain why hypophosphatemia is commonly encountered in the settings of sepsis, trauma, and certain post-operative states (esp. liver and cardiac). [clinicaladvisor.com]

This mechanism is responsible for the hypophosphatemia observed with salicylate overdose, panic attacks, and sepsis. [slideshare.net]

puberty Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss Cerebellar ataxia, Cayman type Cerebellar ataxia - hypogonadism Cerebellar ataxia - ectodermal dysplasia Cerebellar ataxia with peripheral neuropathy Cerebellar [sanfordresearch.org]

Diseases related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis via text searches within MalaCards or GeneCards Suite gene sharing: MalaCards organs/tissues related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis: [malacards.org]

The main part of this publication describes in detail the disorders associated with hypocalcemia, hypercalcemia, rickets, phosphate metabolism, primary and secondary osteoporosis. [books.google.com]

Probably mediates 70-80% of the apical influx Disease: (OMIM: 182309 612286 613388 ) Defects in SLC34A1 are the cause of hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1) [MIM:612286]. [slc.bioparadigms.org]

Homepage Rare diseases Search Search for a rare disease Dominant hypophosphatemia with nephrolithiasis or osteoporosis Disease definition Dominant hypophosphatemia with nephrolithiasis or osteoporosis is a rare, genetic, renal tubular disease characterized [orpha.net]

Diseases related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis via text searches within MalaCards or GeneCards Suite gene sharing: MalaCards organs/tissues related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis: [malacards.org]

Diagnostic Criteria and Clinical Characteristics Nephrolithiasis is derived from the Greek words nephros and lithos meaning kidney stone. [mhmedical.com]

Homepage Rare diseases Search Search for a rare disease Dominant hypophosphatemia with nephrolithiasis or osteoporosis Disease definition Dominant hypophosphatemia with nephrolithiasis or osteoporosis is a rare, genetic, renal tubular disease characterized [orpha.net]

Methods: Retrospective study with 681 adult patients with nephrolithiasis. [jbn.org.br]

/osteoporosis, hypophosphatemic, 1 SLC34A1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 SLC9A3R1 FGF23-induced hypophosphatemic rickets Autosomal dominant hypophosphatemic rickets FGF23 Autosomal recessive hypophosphatemic rickets type 1 DMP1 Autosomal [moldiag.de]

Some eventually develop renal insufficiency Cellular location: Membrane; Multi-pass membrane protein Tissue specificity: Kidney and lung Database cross-references UniProt: Q06495 NextBio: 25559 OMIM: 182309 612286 613388 Ensembl: ENST00000512593 GeneCard [slc.bioparadigms.org]

Certainly the handling of an acute Phos load can be impaired with co-existing renal insufficiency, which increases the risk of hyperphosphatemia. [clinicaladvisor.com]

Nephrocalcinosis and hyperparathyroidism are important complications and nephrocalcinosis may result in renal insufficiency. [boneandspine.com]

insufficiency o Vitamin D intake or abuse, or use of vitamin supplements Use physical exam primarily to look for signs of hypercalcemia and diseases that underlie or are associated with hyperparathyroidism. * Look for: o Arthritis suggestive of gout [enotes.tripod.com]

Some eventually develop renal insufficiency. [uniprot.org]

Diseases related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis via text searches within MalaCards or GeneCards Suite gene sharing: MalaCards organs/tissues related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis: [malacards.org]

Diagnostic Criteria and Clinical Characteristics Nephrolithiasis is derived from the Greek words nephros and lithos meaning kidney stone. [mhmedical.com]

Homepage Rare diseases Search Search for a rare disease Dominant hypophosphatemia with nephrolithiasis or osteoporosis Disease definition Dominant hypophosphatemia with nephrolithiasis or osteoporosis is a rare, genetic, renal tubular disease characterized [orpha.net]

Methods: Retrospective study with 681 adult patients with nephrolithiasis. [jbn.org.br]

/osteoporosis, hypophosphatemic, 1 SLC34A1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 SLC9A3R1 FGF23-induced hypophosphatemic rickets Autosomal dominant hypophosphatemic rickets FGF23 Autosomal recessive hypophosphatemic rickets type 1 DMP1 Autosomal [moldiag.de]

Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. [slc.bioparadigms.org]

These patients have hypophosphatemia along with type II renal tubular acidosis, renal glycosuria, aminoaciduria, and hypouricemia, ie, the condition referred to as Fanconi syndrome. [slideshare.net]

Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. [uniprot.org]