ARHR2 Presentation ARHR2 Presentation ARHR2 Presentation ARHR2 Presentation Variable disease severity is reported, with infants presenting with the severe GACI while children and adults present with ARHR2, as reported in American Journal of Human Genetics [symptoma.co.za]

ARHR2 Presentation ARHR2 Presentation ARHR2 Presentation Variable disease severity is reported, with infants presenting with the severe GACI while children and adults present with ARHR2, as reported in American Journal of Human Genetics in 2010 and Nature [symptoma.com]

It is unclear why some patients present with the disease in childhood and others present with the disorder as adults. [academic.oup.com]

Their clinical presentation is similar to that for Tumor-Induced Osteomalacia (TIO). [hindawi.com]

[…] at a later age, because it is not usually present perinatally. [thejns.org]

• Pain

  [symptoma.com] Bone pain – Bone pain as a result of ARHR2 can be very severe, and pain relief may be required. [symptoma.com] Bone pain – Bone pain as a result of ARHR2 can be very severe, and pain relief may be required. [symptoma.co.za]

  Bone pain – Bone pain as a result of ARHR2 can be very severe, and pain relief may be required. You should consult your doctor to find out what pain medication and dose would be best for your child. [gaciglobal.org]

  Early diagnosis and prompt treatment can help prevent/correct bone deformities and relieve bone pain. Signs & Symptoms Bone deformity, bone pain, increased risk of bone fractures, and short stature are symptoms of ARHR2. [rarediseases.org]

  She continued to have pain and discomfort in her inner thighs. She was prescribed Diclofenac and Flexeril for pain. [hindawi.com]

• Short Stature

  [bone-abstracts.org] X-linked Hypophosphatemia Short Stature Short stature is a characteristic of X-Linked Hypophosphatemia, with the length of the lower limbs being markedly reduced compared to that of the arms. [symptoma.com]

  Gene ENPP1 gene, 6q23.2 (OMIM gene/locus number *173335 ) Phenotype Short stature; limited movement of spine and hip, calcification of the ligaments at the bony insertions sites, high bone density at the base of skull, clavicle and rib anomalies, and [iofbonehealth.org]

  Beyond six months, the mortality rate significantly decreases among survivors, who may later develop ARHR2, characterized clinically by short stature, bone deformities and pain. [bone-abstracts.org]

  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). [ncbi.nlm.nih.gov]

• Fatigue

  [news-medical.net] Fatigue [news-medical.net] Fatigue [news-medical.net] Fatigue [rarediseases.org] Fatigue During adulthood, clinical findings may include bone pain, fatigue, muscle weakness, and repeated bone fractures. [symptoma.co.za]

  [news-medical.net] Fatigue [news-medical.net] Fatigue [rarediseases.org] Fatigue During adulthood, clinical findings may include bone pain, fatigue, muscle weakness, and repeated bone fractures. [symptoma.com]

  During adulthood, clinical findings may include bone pain, fatigue, muscle weakness, and repeated bone fractures. [orpha.net]

  Other heavily weighted burdens in this cohort included mobility issues, fatigue, and fear of the unknown. [biospace.com]

• Failure to Thrive

  [gaciglobal.org] Gastrointestinal Failure to Thrive [gaciglobal.org] Gastrointestinal Failure to Thrive [gaciglobal.org] Gastrointestinal Failure to Thrive All patients with RTA presented with failure to thrive, polyuria and marked rickets; blood alkaline [symptoma.co.za]

  [gaciglobal.org] Gastrointestinal Failure to Thrive [gaciglobal.org] Gastrointestinal Failure to Thrive All patients with RTA presented with failure to thrive, polyuria and marked rickets; blood alkaline phosphatase levels being normal in almost 50 % [symptoma.com]

  All patients with RTA presented with failure to thrive, polyuria and marked rickets; blood alkaline phosphatase levels being normal in almost 50 % patients. [link.springer.com]

  […] to thrive, developmental delay, and orthopedic abnormalities. [aafp.org]

  At an older age, the visible symptoms of this disease include failure to thrive and bone deformities. (HPO). Pediatrics. Accessed April 1, 2019. [swimtornadoes.com]

• Eruptions

  [rarediseases.org] Skin Eruptions [rarediseases.org] Skin Eruptions [rarediseases.org] Skin Eruptions [link.springer.com] Skin Eruptions Dental issues – Over-retained primary teeth, infraocclusion, submerging of previously erupted teeth, increased cementum [symptoma.co.za]

  [rarediseases.org] Skin Eruptions [rarediseases.org] Skin Eruptions [link.springer.com] Skin Eruptions Dental issues – Over-retained primary teeth, infraocclusion, submerging of previously erupted teeth, increased cementum, and other dental abnormalities [symptoma.com]

  […] of teeth Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ] 0000684 Dolichocephaly Long, narrow head Tall and narrow skull [ more ] 0000268 Exostoses Formation of new noncancerous [rarediseases.info.nih.gov]

  However, the newly erupted permanent canine was yellowish and exhibited enamel defects. [journals.lww.com]

  Dental issues – Over-retained primary teeth, infraocclusion, submerging of previously erupted teeth, increased cementum, and other dental abnormalities are possible effects of ARHR2. [gaciglobal.org]

• Skin Rash

  His mother reports that he has had this rash since 6 months of life when bottle feeding started. The skin rash did not respond to 1% hydrocortisone treatment and it has worsened in the past few weeks. [almliesl.com]

• Fracture

  [medical-dictionary.thefreedictionary.com] [medical-dictionary.thefreedictionary.com] [faseb.onlinelibrary.wiley.com] Fracture lines in osteomalacia are very common (19), and may consist of pseudo fractures, true fractures or insufficiency fractures. [symptoma.com]

  […] true fractures or insufficiency fractures. [symptoma.co.za]

  Disease in ARHR2 is severe and symptomatic, leading to repeated fractures of the long bones, rachitic deformities, and impaired growth and development. [faseb.onlinelibrary.wiley.com]

  Clinical findings Bone pain, fractures, growth defects, skeletal deformities (including rickets and vitamin D unresponsive osteomalacia). [medical-dictionary.thefreedictionary.com]

  Symptoms are bone pain, fractures and growth abnormalities. Acronym ARHR2 Synonyms Hypophosphatemia autosomal recessive Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Bone Pain

  [symptoma.com] Bone pain – Bone pain as a result of ARHR2 can be very severe, and pain relief may be required. [symptoma.com] Bone pain – Bone pain as a result of ARHR2 can be very severe, and pain relief may be required. [symptoma.co.za]

  Early diagnosis and prompt treatment can help prevent/correct bone deformities and relieve bone pain. Signs & Symptoms Bone deformity, bone pain, increased risk of bone fractures, and short stature are symptoms of ARHR2. [rarediseases.org]

  Bone pain – Bone pain as a result of ARHR2 can be very severe, and pain relief may be required. You should consult your doctor to find out what pain medication and dose would be best for your child. [gaciglobal.org]

  It manifests during childhood with typical clinical features of rickets such as short stature, bone pain, and skeletal deformities. During adulthood, clinical findings may include bone pain, fatigue, muscle weakness, and repeated bone fractures. [orpha.net]

• Enthesopathy

  Gene ENPP1 gene, 6q23.2 (OMIM gene/locus number *173335 ) Phenotype Short stature; limited movement of spine and hip, calcification of the ligaments at the bony insertions sites, high bone density at the base of skull, clavicle and rib anomalies, and enthesopathies [iofbonehealth.org]

  Periarticular enthesopathy has not been previously described in patients with ARHR2 but is seen in ENPP1 knockout rodent models, as reported in Bone in 2012; we identified that the proband's sister had enthesopathy. [mayoclinic.org]

  Calcific Enthesopathy – Calcific Enthesopathies can develop over time. This is when calcium deposits develop in the sites where ligaments and tendons attach to the bones. This may be inflammatory and can cause pain in the area it affects. [gaciglobal.org]

• Genu Valgum

  Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition (e.g., RICKETS; FLUORIDE POISONING). [ncbi.nlm.nih.gov]

  [rarediseases.org] Genu Valgum [rarediseases.org] Genu Valgum Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition (e.g., RICKETS; FLUORIDE POISONING). [symptoma.com]

  [rarediseases.org] Genu Valgum [rarediseases.org] Genu Valgum [rarediseases.org] Genu Valgum Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition (e.g., RICKETS; FLUORIDE POISONING). [symptoma.co.za]

  Radiological findings are improved after treatment with disappearance of lateral bowing of the femurs and tibias (genu valgum). [endocrino.org.br]

  Bone deformities that may limit movement – The most noticeable bone changes are Genu Varum or Varus (bowed legs) or Genu Valgum or Valgus (knock knees). [gaciglobal.org]

• Ankylosis

  Over-retained primary teeth, teeth that don’t fully erupt (infraocclusion), increased cementum, ankylosis, and slow orthodontic movement are also possible symptoms of ENPP1 deficiency. [rarediseases.org]

  [gaciglobal.org] Over-retained primary teeth, teeth that don’t fully erupt (infraocclusion), increased cementum, ankylosis, and slow orthodontic movement are also possible symptoms of ENPP1 deficiency. [symptoma.com]

[mayoclinic.org] Workup [link.springer.com] Workup [link.springer.com] Workup [link.springer.com] Workup Laboratory workup was significant for a low serum phosphorus; elevated parathyroid hormone (PTH); elevated 1,25(OH)2D; and reduced renal tubular reabsorption [symptoma.co.za]

[link.springer.com] Workup [link.springer.com] Workup [link.springer.com] Workup Laboratory workup was significant for a low serum phosphorus; elevated parathyroid hormone (PTH); elevated 1,25(OH)2D; and reduced renal tubular reabsorption of phosphorus [symptoma.com]

Laboratory workup was significant for a low serum phosphorus; elevated parathyroid hormone (PTH); elevated 1,25(OH)2D; and reduced renal tubular reabsorption of phosphorus, or TRP. [mayoclinic.org]

(See Etiology and Workup.) In XLH patients, the severe hypophosphatemia (< 2.5 mg/dL) is associated with elevated serum alkaline phosphatase. [emedicine.medscape.com]

• Hypophosphatemia

  Hence a patient with hypophosphatemia, low or normal PTH, and low or inappropriately normal 1,25(OH)2D for the level of hypophosphatemia should raise concern for FGF23-mediated hypophosphatemia. [mayoclinic.org]

  Many diseases are associated with hypophosphatemia (see Table I). Table I. [endocrinologyadvisor.com]

  Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation. J Bone Miner Res. 2010 Oct;25(10):2165-74. Turan S, Aydin C, Bereket A, et al. [rarediseases.org]

  In calcipenic rickets, hypocalcemia is present, hypophosphatemia is mild or absent, and urinary phosphate is not elevated. [msdmanuals.com]

  Hereditary hypophosphatemic rickets (hypophosphatemia); (Hypophosphatemic rickets Hereditary) - Genes FGF23 and PHEX. Hereditary hypophosphatemic rickets is a disorder related to hypophosphatemia. [ivami.com]

• Hypophosphatemia

  Hence a patient with hypophosphatemia, low or normal PTH, and low or inappropriately normal 1,25(OH)2D for the level of hypophosphatemia should raise concern for FGF23-mediated hypophosphatemia. [mayoclinic.org]

  Many diseases are associated with hypophosphatemia (see Table I). Table I. [endocrinologyadvisor.com]

  Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation. J Bone Miner Res. 2010 Oct;25(10):2165-74. Turan S, Aydin C, Bereket A, et al. [rarediseases.org]

  In calcipenic rickets, hypocalcemia is present, hypophosphatemia is mild or absent, and urinary phosphate is not elevated. [msdmanuals.com]

  Hereditary hypophosphatemic rickets (hypophosphatemia); (Hypophosphatemic rickets Hereditary) - Genes FGF23 and PHEX. Hereditary hypophosphatemic rickets is a disorder related to hypophosphatemia. [ivami.com]

[gaciglobal.org] Treatment [symptoma.com] Treatment Both the GACI and ARHR2 phenotypes are potentially fatal or associated with severe morbidity, with no FDA-approved drugs or proven treatments. [symptoma.com]

[gaciglobal.org] Treatment [gaciglobal.org] Treatment [symptoma.com] Treatment Both the GACI and ARHR2 phenotypes are potentially fatal or associated with severe morbidity, with no FDA-approved drugs or proven treatments. [symptoma.co.za]

Both the GACI and ARHR2 phenotypes are potentially fatal or associated with severe morbidity, with no FDA-approved drugs or proven treatments. [centerwatch.com]

Other Tests That May Prove Helpful Diagnostically Management and Treatment of the Disease Emergent treatment Chronic therapy What’s the Evidence?/References [endocrinologyadvisor.com]

[rarediseases.org] Prognosis (prognosis ) for people [symptoma.com] Less commonly, hypophosphatemic rickets is inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner.[2][3] Last updated: 3/1/2016 Prognosis Prognosis The [symptoma.com]

2016 Prognosis Prognosis The [symptoma.com] Less commonly, hypophosphatemic rickets is inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner.[2][3] Last updated: 3/1/2016 Prognosis Prognosis The long-term outlook (prognosis [symptoma.co.za]

Less commonly, hypophosphatemic rickets is inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner.[2][3] Last updated: 3/1/2016 Prognosis Prognosis The long-term outlook (prognosis ) for people with hypophosphatemic rickets [rarediseases.info.nih.gov]

Removing any secondary etiology, such as drugs may dramatically improve the patients clinical manifestations and result in an improved prognosis. [ncbi.nlm.nih.gov]

[emedicine.medscape.com] Etiology [emedicine.medscape.com] Etiology [emedicine.medscape.com] Etiology [ncbi.nlm.nih.gov] Abstract Objective To present clinical and etiological profile of refractory rickets from Mumbai. [symptoma.co.za]

[emedicine.medscape.com] Etiology [emedicine.medscape.com] Etiology [ncbi.nlm.nih.gov] Abstract Objective To present clinical and etiological profile of refractory rickets from Mumbai. [link.springer.com] (See Etiology and Treatment.) [symptoma.com]

The prognosis of the disease depends on the etiology. The treatment or removal of secondary etiologies, including drugs and tumors has been reported to be particularly effective at improving the condition. [ncbi.nlm.nih.gov]

Etiology ARHR is caused by inactivating mutations in the gene encoding dentin matrix protein 1 (DMP1) or in the ectonucleotide pyrophosphatase/phosphodiesterase 1 ENPP1 gene. [orpha.net]

XLH rickets is the most common subtype and typically presents in children around 2 years of life.2 The etiology underlying this association has yet to be fully elucidated. [thejns.org]

[faseb.onlinelibrary.wiley.com] Epidemiology [faseb.onlinelibrary.wiley.com] Epidemiology [faseb.onlinelibrary.wiley.com] Epidemiology Summary Epidemiology Prevalence is unknown. [symptoma.com] Summary Epidemiology Prevalence is unknown. [symptoma.co.za]

[faseb.onlinelibrary.wiley.com] Epidemiology [faseb.onlinelibrary.wiley.com] Epidemiology Summary Epidemiology Prevalence is unknown. [symptoma.com]

Summary Epidemiology Prevalence is unknown. Clinical description The disease is clinically similar to X-linked and autosomal dominant hypophosphatemic rickets (see these terms). [orpha.net]

Epidemiology Abstract Illustrative Case Introduction Epidemiology Pathogenesis Types of Rickets Evaluation Treatment References Because rickets is not a reportable disease in the United States, national data are unavailable. [aafp.org]

Epidemiology Although serum phosphate levels are similarly depressed in affected males and females, the degree of bone involvement is substantially less severe in heterozygous females. [20] All hemizygous males are clinically affected. [1, 5] As in all [emedicine.medscape.com]

[greenmaria.it] Pathophysiology [greenmaria.it] Pathophysiology [greenmaria.it] Pathophysiology [orpha.net] Pathophysiology Zelikovic Molecular pathophysiology of tubular transport disorders Pediatr Nephrol., 16 (2001), pp. 919-935 [Hamilton y Butt, 2000 [symptoma.co.za]

[greenmaria.it] Pathophysiology [greenmaria.it] Pathophysiology [orpha.net] Pathophysiology Zelikovic Molecular pathophysiology of tubular transport disorders Pediatr Nephrol., 16 (2001), pp. 919-935 [Hamilton y Butt, 2000] K.L. Hamilton, A.G. [symptoma.com]

Thus, this family raises some issues on the transmission and pathophysiology of hereditary hypophosphatemic rickets with hypercalciuria. [ojrd.biomedcentral.com]

Zelikovic Molecular pathophysiology of tubular transport disorders Pediatr Nephrol., 16 (2001), pp. 919-935 [Hamilton y Butt, 2000] K.L. Hamilton, A.G. [apcontinuada.com]

[…] years of age risk factors premature infants black children > 6 months who are still breastfed patients with malabsorption syndromes (celiac sprue) or chronic parenteral nutrition Asian immigrants patients with unusual dietary choices (vegetarian diet) pathophysiology [orthobullets.com]

[ncbi.nlm.nih.gov] Prevention Early diagnosis and prompt treatment can help prevent/correct bone deformities and relieve bone pain. [symptoma.com]

[link.springer.com] Prevention [ncbi.nlm.nih.gov] Prevention Early diagnosis and prompt treatment can help prevent/correct bone deformities and relieve bone pain. [symptoma.co.za]

Early diagnosis and prompt treatment can help prevent/correct bone deformities and relieve bone pain. Potential side effects of phosphorus supplementation can include gastrointestinal upset, diarrhea, and nausea. [rarediseases.org]

[…] of fluoride to promote enamel remineralization and prevent caries. [journals.lww.com]

Vitamin D supplementation to pregnant women and infants is crucial to prevent this condition. [statpearls.com]