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Hypophosphatemic rickets, autosomal recessive, 2(ARHR2)

MedGen UID:
442380
Concept ID:
C2750078
Disease or Syndrome
Synonyms: ARHR2
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: ENPP1
Cytogenetic location: 6q23.2
OMIM®: 613312

Definition

Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth. In most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood. The features of the disorder vary widely, even among affected members of the same family. Mildly affected individuals may have hypophosphatemia without other signs and symptoms. More severely affected children experience slow growth and are shorter than their peers. They develop bone abnormalities that can interfere with movement and cause bone pain. The most noticeable of these abnormalities are bowed legs or knock knees (a condition in which the lower legs are positioned at an outward angle). These abnormalities become apparent with weight-bearing activities such as walking. If untreated, they tend to worsen with time. Other signs and symptoms of hereditary hypophosphatemic rickets can include premature fusion of the skull bones (craniosynostosis) and dental abnormalities. The disorder may also cause abnormal bone growth where ligaments and tendons attach to joints (enthesopathy). In adults, hypophosphatemia is characterized by a softening of the bones known as osteomalacia. Researchers have described several forms of hereditary hypophosphatemic rickets, which are distinguished by their pattern of inheritance and genetic cause. The most common form of the disorder is known as X-linked hypophosphatemic rickets (XLH). It has an X-linked dominant pattern of inheritance. X-linked recessive, autosomal dominant, and autosomal recessive forms of the disorder are much rarer. The different inheritance patterns are described below. Another rare type of the disorder is known as hereditary hypophosphatemic rickets with hypercalciuria (HHRH). In addition to hypophosphatemia, this condition is characterized by the excretion of high levels of calcium in the urine (hypercalciuria).
[from GHR]

Clinical features

Hypophosphatemic rickets
MedGen UID:
505718
Concept ID:
CN004355
Finding
Hypophosphatemic rickets
MedGen UID:
505718
Concept ID:
CN004355
Finding

Recent clinical studies

Etiology

Rauch F, Husseini A, Roughley P, Glorieux FH, Moffatt P
J Clin Endocrinol Metab 2012 Aug;97(8):E1550-6. Epub 2012 Jun 5 doi: 10.1210/jc.2012-1827. [Epub ahead of print] PMID: 22669302
Kinoshita Y, Saito T, Shimizu Y, Hori M, Taguchi M, Igarashi T, Fukumoto S, Fujita T
Eur J Endocrinol 2012 Aug;167(2):165-72. Epub 2012 May 10 doi: 10.1530/EJE-12-0071. [Epub ahead of print] PMID: 22577109
Koshida R, Yamaguchi H, Yamasaki K, Tsuchimochi W, Yonekawa T, Nakazato M
J Bone Miner Metab 2010 Sep;28(5):585-90. Epub 2010 Mar 9 doi: 10.1007/s00774-010-0169-0. [Epub ahead of print] PMID: 20213538
Perwad F, Zhang MY, Tenenhouse HS, Portale AA
Am J Physiol Renal Physiol 2007 Nov;293(5):F1577-83. Epub 2007 Aug 15 doi: 10.1152/ajprenal.00463.2006. [Epub ahead of print] PMID: 17699549
Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM
Am J Hum Genet 2006 Feb;78(2):193-201. Epub 2005 Dec 9 doi: 10.1086/499410. [Epub ahead of print] PMID: 16358215Free PMC Article

Diagnosis

Brachet C, Mansbach AL, Clerckx A, Deltenre P, Heinrichs C
Horm Res Paediatr 2014;81(1):63-6. Epub 2013 Nov 6 doi: 10.1159/000354661. [Epub ahead of print] PMID: 24216977
Baroncelli GI, Toschi B, Bertelloni S
Curr Opin Endocrinol Diabetes Obes 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97. PMID: 23108197
Areses-Trapote R, López-García JA, Ubetagoyena-Arrieta M, Eizaguirre A, Sáez-Villaverde R
Nefrologia 2012 Jul 17;32(4):529-34. doi: 10.3265/Nefrologia.pre2012.Apr.11321. PMID: 22806288
Kinoshita Y, Saito T, Shimizu Y, Hori M, Taguchi M, Igarashi T, Fukumoto S, Fujita T
Eur J Endocrinol 2012 Aug;167(2):165-72. Epub 2012 May 10 doi: 10.1530/EJE-12-0071. [Epub ahead of print] PMID: 22577109
Koshida R, Yamaguchi H, Yamasaki K, Tsuchimochi W, Yonekawa T, Nakazato M
J Bone Miner Metab 2010 Sep;28(5):585-90. Epub 2010 Mar 9 doi: 10.1007/s00774-010-0169-0. [Epub ahead of print] PMID: 20213538

Therapy

Baroncelli GI, Toschi B, Bertelloni S
Curr Opin Endocrinol Diabetes Obes 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97. PMID: 23108197
Malloy PJ, Zhou Y, Wang J, Hiort O, Feldman D
J Bone Miner Res 2011 Nov;26(11):2710-8. doi: 10.1002/jbmr.484. PMID: 21812032
Shimizu Y, Tada Y, Yamauchi M, Okamoto T, Suzuki H, Ito N, Fukumoto S, Sugimoto T, Fujita T
Bone 2009 Oct;45(4):814-6. Epub 2009 Jun 23 doi: 10.1016/j.bone.2009.06.017. [Epub ahead of print] PMID: 19555782
Scriver CR, Reade TM, DeLuca HF, Hamstra AJ
N Engl J Med 1978 Nov 2;299(18):976-9. doi: 10.1056/NEJM197811022991803. PMID: 308618

Prognosis

Baroncelli GI, Toschi B, Bertelloni S
Curr Opin Endocrinol Diabetes Obes 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97. PMID: 23108197
Areses-Trapote R, López-García JA, Ubetagoyena-Arrieta M, Eizaguirre A, Sáez-Villaverde R
Nefrologia 2012 Jul 17;32(4):529-34. doi: 10.3265/Nefrologia.pre2012.Apr.11321. PMID: 22806288
Hasani-Ranjbar S, Amoli MM, Ebrahim-Habibi A, Dehghan E, Soltani A, Amiri P, Larijani B
J Clin Res Pediatr Endocrinol 2012 Jun;4(2):89-93. doi: 10.4274/jcrpe.601. PMID: 22672866Free PMC Article
Rauch F, Husseini A, Roughley P, Glorieux FH, Moffatt P
J Clin Endocrinol Metab 2012 Aug;97(8):E1550-6. Epub 2012 Jun 5 doi: 10.1210/jc.2012-1827. [Epub ahead of print] PMID: 22669302
Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H
Am J Hum Genet 2006 Feb;78(2):179-92. Epub 2005 Dec 9 doi: 10.1086/499409. [Epub ahead of print] PMID: 16358214Free PMC Article

Clinical prediction guides

Feng JQ, Clinkenbeard EL, Yuan B, White KE, Drezner MK
Bone 2013 Jun;54(2):213-21. Epub 2013 Feb 9 doi: 10.1016/j.bone.2013.01.046. [Epub ahead of print] PMID: 23403405Free PMC Article
Rauch F, Husseini A, Roughley P, Glorieux FH, Moffatt P
J Clin Endocrinol Metab 2012 Aug;97(8):E1550-6. Epub 2012 Jun 5 doi: 10.1210/jc.2012-1827. [Epub ahead of print] PMID: 22669302
Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H
Am J Hum Genet 2006 Feb;78(2):179-92. Epub 2005 Dec 9 doi: 10.1086/499409. [Epub ahead of print] PMID: 16358214Free PMC Article
Kato S, Yoshizazawa T, Kitanaka S, Murayama A, Takeyama K
Horm Res 2002;57(3-4):73-8. doi: 57955. PMID: 12006701
Scriver CR, Reade TM, DeLuca HF, Hamstra AJ
N Engl J Med 1978 Nov 2;299(18):976-9. doi: 10.1056/NEJM197811022991803. PMID: 308618

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