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Hereditary hypophosphatemic rickets

MedGen UID:
980781
Concept ID:
CN296404
Disease or Syndrome
Synonyms: hereditary hypophosphatemic rickets; Hypophosphatemic rickets
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
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.
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
 
Related genes: FGF23, PHEX, ENPP1, DMP1, CLCN5
 
Monarch Initiative: MONDO:0000044
OMIM® Phenotypic series: PS193100
Orphanet: ORPHA437

Definition

A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities. [from ORDO]

Professional guidelines

PubMed

Alikasifoglu A, Unsal Y, Gonc EN, Ozon ZA, Kandemir N, Alikasifoglu M
J Pediatr Endocrinol Metab 2021 Dec 20;34(12):1573-1584. Epub 2021 Sep 16 doi: 10.1515/jpem-2021-0387. PMID: 34525271

Recent clinical studies

Etiology

Stürznickel J, Heider F, Delsmann A, Gödel M, Grünhagen J, Huber TB, Kornak U, Amling M, Oheim R
J Bone Miner Res 2022 Aug;37(8):1580-1591. Epub 2022 Jul 8 doi: 10.1002/jbmr.4630. PMID: 35689455
Arenas MA, Jaimovich S, Perez Garrido N, Del Pino M, Viterbo G, Marino R, Fano V
J Pediatr Endocrinol Metab 2021 Sep 27;34(9):1105-1113. Epub 2021 Jun 21 doi: 10.1515/jpem-2021-0042. PMID: 34147045
Turan I, Erdem S, Kotan LD, Ozdemir Dilek S, Tastan M, Gurbuz F, Bişgin A, Karabay Bayazıt A, Topaloglu AK, Yuksel B
J Pediatr Endocrinol Metab 2021 May 26;34(5):639-648. Epub 2021 Apr 13 doi: 10.1515/jpem-2020-0624. PMID: 33852231
Bergwitz C, Miyamoto KI
Pflugers Arch 2019 Jan;471(1):149-163. Epub 2018 Aug 14 doi: 10.1007/s00424-018-2184-2. PMID: 30109410
Acar S, Demir K, Shi Y
J Clin Res Pediatr Endocrinol 2017 Dec 30;9(Suppl 2):88-105. Epub 2017 Dec 27 doi: 10.4274/jcrpe.2017.S008. PMID: 29280738Free PMC Article

Diagnosis

Arenas MA, Jaimovich S, Perez Garrido N, Del Pino M, Viterbo G, Marino R, Fano V
J Pediatr Endocrinol Metab 2021 Sep 27;34(9):1105-1113. Epub 2021 Jun 21 doi: 10.1515/jpem-2021-0042. PMID: 34147045
Turan I, Erdem S, Kotan LD, Ozdemir Dilek S, Tastan M, Gurbuz F, Bişgin A, Karabay Bayazıt A, Topaloglu AK, Yuksel B
J Pediatr Endocrinol Metab 2021 May 26;34(5):639-648. Epub 2021 Apr 13 doi: 10.1515/jpem-2020-0624. PMID: 33852231
Marcucci G, Brandi ML
Calcif Tissue Int 2021 Jan;108(1):91-103. Epub 2020 May 14 doi: 10.1007/s00223-020-00695-2. PMID: 32409880
Bergwitz C, Miyamoto KI
Pflugers Arch 2019 Jan;471(1):149-163. Epub 2018 Aug 14 doi: 10.1007/s00424-018-2184-2. PMID: 30109410
Acar S, Demir K, Shi Y
J Clin Res Pediatr Endocrinol 2017 Dec 30;9(Suppl 2):88-105. Epub 2017 Dec 27 doi: 10.4274/jcrpe.2017.S008. PMID: 29280738Free PMC Article

Therapy

Heijboer AC, Cavalier E
Calcif Tissue Int 2023 Feb;112(2):258-270. Epub 2022 Jun 4 doi: 10.1007/s00223-022-00987-9. PMID: 35665817Free PMC Article
Stürznickel J, Heider F, Delsmann A, Gödel M, Grünhagen J, Huber TB, Kornak U, Amling M, Oheim R
J Bone Miner Res 2022 Aug;37(8):1580-1591. Epub 2022 Jul 8 doi: 10.1002/jbmr.4630. PMID: 35689455
Fuente R, García-Bengoa M, Fernández-Iglesias Á, Gil-Peña H, Santos F, López JM
Int J Mol Sci 2022 Jan 15;23(2) doi: 10.3390/ijms23020934. PMID: 35055123Free PMC Article
Bergwitz C, Miyamoto KI
Pflugers Arch 2019 Jan;471(1):149-163. Epub 2018 Aug 14 doi: 10.1007/s00424-018-2184-2. PMID: 30109410
Tieder M, Modai D, Samuel R, Arie R, Halabe A, Bab I, Gabizon D, Liberman UA
N Engl J Med 1985 Mar 7;312(10):611-7. doi: 10.1056/NEJM198503073121003. PMID: 2983203

Prognosis

Wang L, Kulaixi G, Zaiyinati J, Aibai G, Du D, Guo Y
BMC Pediatr 2024 Feb 14;24(1):121. doi: 10.1186/s12887-024-04589-2. PMID: 38355430Free PMC Article
Heijboer AC, Cavalier E
Calcif Tissue Int 2023 Feb;112(2):258-270. Epub 2022 Jun 4 doi: 10.1007/s00223-022-00987-9. PMID: 35665817Free PMC Article
Arenas MA, Jaimovich S, Perez Garrido N, Del Pino M, Viterbo G, Marino R, Fano V
J Pediatr Endocrinol Metab 2021 Sep 27;34(9):1105-1113. Epub 2021 Jun 21 doi: 10.1515/jpem-2021-0042. PMID: 34147045
Turan I, Erdem S, Kotan LD, Ozdemir Dilek S, Tastan M, Gurbuz F, Bişgin A, Karabay Bayazıt A, Topaloglu AK, Yuksel B
J Pediatr Endocrinol Metab 2021 May 26;34(5):639-648. Epub 2021 Apr 13 doi: 10.1515/jpem-2020-0624. PMID: 33852231
Wagner CA, Rubio-Aliaga I, Hernando N
Pediatr Nephrol 2019 Apr;34(4):549-559. Epub 2017 Dec 23 doi: 10.1007/s00467-017-3873-3. PMID: 29275531

Clinical prediction guides

Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C
Kidney Int 2024 May;105(5):1058-1076. Epub 2024 Feb 15 doi: 10.1016/j.kint.2024.01.031. PMID: 38364990
Heijboer AC, Cavalier E
Calcif Tissue Int 2023 Feb;112(2):258-270. Epub 2022 Jun 4 doi: 10.1007/s00223-022-00987-9. PMID: 35665817Free PMC Article
Stürznickel J, Heider F, Delsmann A, Gödel M, Grünhagen J, Huber TB, Kornak U, Amling M, Oheim R
J Bone Miner Res 2022 Aug;37(8):1580-1591. Epub 2022 Jul 8 doi: 10.1002/jbmr.4630. PMID: 35689455
Arenas MA, Jaimovich S, Perez Garrido N, Del Pino M, Viterbo G, Marino R, Fano V
J Pediatr Endocrinol Metab 2021 Sep 27;34(9):1105-1113. Epub 2021 Jun 21 doi: 10.1515/jpem-2021-0042. PMID: 34147045
Bergwitz C, Miyamoto KI
Pflugers Arch 2019 Jan;471(1):149-163. Epub 2018 Aug 14 doi: 10.1007/s00424-018-2184-2. PMID: 30109410

Recent systematic reviews

Dodamani MH, Memon SS, Karlekar M, Lila AR, Khan M, Sarathi V, Arya S, Jamale T, Thakare S, Patil VA, Shah NS, Bergwitz C, Bandgar TR
Calcif Tissue Int 2024 Feb;114(2):137-146. Epub 2023 Nov 19 doi: 10.1007/s00223-023-01156-2. PMID: 37981601
Christensen S, Tebben PJ, Sas D, Creo AL
Horm Res Paediatr 2021;94(9-10):374-389. Epub 2021 Oct 19 doi: 10.1159/000520299. PMID: 34666334

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