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Odontohypophosphatasia(HPPO)

MedGen UID:
326709
Concept ID:
C1840322
Disease or Syndrome
Synonyms: HPPO; ODONTOHYPOPHOSPHATASIA
SNOMED CT: Odontohypophosphatasia (708672004)
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.
 
Monarch Initiative: MONDO:0016607
OMIM®: 146300; 171760
Orphanet: ORPHA247685

Definition

Tooth specific inherited disorder of mineral metabolism caused by gene mutation, encoding tissue non-specific alkaline phosphatase (TNAP). [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOdontohypophosphatasia

Professional guidelines

PubMed

Taillandier A, Domingues C, De Cazanove C, Porquet-Bordes V, Monnot S, Kiffer-Moreira T, Rothenbuhler A, Guggenbuhl P, Cormier C, Baujat G, Debiais F, Capri Y, Cohen-Solal M, Parent P, Chiesa J, Dieux A, Petit F, Roume J, Isnard M, Cormier-Daire V, Linglart A, Millán JL, Salles JP, Muti C, Simon-Bouy B, Mornet E
Mol Genet Metab 2015 Nov;116(3):215-20. Epub 2015 Sep 30 doi: 10.1016/j.ymgme.2015.09.010. PMID: 26432670Free PMC Article
Bianchi ML
Osteoporos Int 2015 Dec;26(12):2743-57. Epub 2015 Aug 6 doi: 10.1007/s00198-015-3272-1. PMID: 26245849

Recent clinical studies

Etiology

Wölfel EM, von Kroge S, Matthies L, Koehne T, Petz K, Beikler T, Schmid-Herrmann CU, Kahl-Nieke B, Tsiakas K, Santer R, Muschol NM, Herrmann J, Busse B, Amling M, Rolvien T, Jandl NM, Barvencik F
Calcif Tissue Int 2023 Mar;112(3):308-319. Epub 2022 Nov 21 doi: 10.1007/s00223-022-01041-4. PMID: 36414794Free PMC Article
Fenn JS, Lorde N, Ward JM, Borovickova I
J Clin Pathol 2021 Oct;74(10):635-640. Epub 2021 Apr 30 doi: 10.1136/jclinpath-2021-207426. PMID: 33931563
Fukushima K, Kawai-Kowase K, Yonemoto Y, Fujiwara M, Sato H, Sato M, Kubota T, Ozono K, Tamura J
J Med Case Rep 2019 Apr 24;13(1):101. doi: 10.1186/s13256-019-2045-4. PMID: 31014398Free PMC Article
Bloch-Zupan A, Vaysse F
Arch Pediatr 2017 May;24(5S2):5S80-5S84. doi: 10.1016/S0929-693X(18)30020-4. PMID: 29405938
Hollis A, Arundel P, High A, Balmer R
Int J Paediatr Dent 2013 May;23(3):153-9. Epub 2012 Jun 4 doi: 10.1111/j.1365-263X.2012.01239.x. PMID: 22672232

Diagnosis

Fenn JS, Lorde N, Ward JM, Borovickova I
J Clin Pathol 2021 Oct;74(10):635-640. Epub 2021 Apr 30 doi: 10.1136/jclinpath-2021-207426. PMID: 33931563
Bloch-Zupan A, Vaysse F
Arch Pediatr 2017 May;24(5S2):5S80-5S84. doi: 10.1016/S0929-693X(18)30020-4. PMID: 29405938
Taillandier A, Domingues C, De Cazanove C, Porquet-Bordes V, Monnot S, Kiffer-Moreira T, Rothenbuhler A, Guggenbuhl P, Cormier C, Baujat G, Debiais F, Capri Y, Cohen-Solal M, Parent P, Chiesa J, Dieux A, Petit F, Roume J, Isnard M, Cormier-Daire V, Linglart A, Millán JL, Salles JP, Muti C, Simon-Bouy B, Mornet E
Mol Genet Metab 2015 Nov;116(3):215-20. Epub 2015 Sep 30 doi: 10.1016/j.ymgme.2015.09.010. PMID: 26432670Free PMC Article
Bianchi ML
Osteoporos Int 2015 Dec;26(12):2743-57. Epub 2015 Aug 6 doi: 10.1007/s00198-015-3272-1. PMID: 26245849
Mornet E
Orphanet J Rare Dis 2007 Oct 4;2:40. doi: 10.1186/1750-1172-2-40. PMID: 17916236Free PMC Article

Therapy

Smart G, Jensen ED, Poirier BF, Sethi S
Eur Arch Paediatr Dent 2023 Aug;24(4):429-440. Epub 2023 Apr 10 doi: 10.1007/s40368-023-00796-0. PMID: 37036643
Schroth RJ, Long C, Lee VHK, Alai-Towfigh H, Rockman-Greenberg C
Bone 2021 Nov;152:116089. Epub 2021 Jun 25 doi: 10.1016/j.bone.2021.116089. PMID: 34175501
Fenn JS, Lorde N, Ward JM, Borovickova I
J Clin Pathol 2021 Oct;74(10):635-640. Epub 2021 Apr 30 doi: 10.1136/jclinpath-2021-207426. PMID: 33931563

Prognosis

Fenn JS, Lorde N, Ward JM, Borovickova I
J Clin Pathol 2021 Oct;74(10):635-640. Epub 2021 Apr 30 doi: 10.1136/jclinpath-2021-207426. PMID: 33931563
Salles JP
Subcell Biochem 2015;76:3-24. doi: 10.1007/978-94-017-7197-9_1. PMID: 26219704
Hollis A, Arundel P, High A, Balmer R
Int J Paediatr Dent 2013 May;23(3):153-9. Epub 2012 Jun 4 doi: 10.1111/j.1365-263X.2012.01239.x. PMID: 22672232
Mornet E
Orphanet J Rare Dis 2007 Oct 4;2:40. doi: 10.1186/1750-1172-2-40. PMID: 17916236Free PMC Article
Nangaku M, Sato N, Sugano K, Takaku F
Jpn J Med 1991 Jan-Feb;30(1):47-52. doi: 10.2169/internalmedicine1962.30.47. PMID: 1865578

Clinical prediction guides

Wölfel EM, von Kroge S, Matthies L, Koehne T, Petz K, Beikler T, Schmid-Herrmann CU, Kahl-Nieke B, Tsiakas K, Santer R, Muschol NM, Herrmann J, Busse B, Amling M, Rolvien T, Jandl NM, Barvencik F
Calcif Tissue Int 2023 Mar;112(3):308-319. Epub 2022 Nov 21 doi: 10.1007/s00223-022-01041-4. PMID: 36414794Free PMC Article
Tenorio J, Álvarez I, Riancho-Zarrabeitia L, Martos-Moreno GÁ, Mandrile G, de la Flor Crespo M, Sukchev M, Sherif M, Kramer I, Darnaude-Ortiz MT, Arias P, Gordo G, Dapía I, Martinez-Villanueva J, Gómez R, Iturzaeta JM, Otaify G, García-Unzueta M, Rubinacci A, Riancho JA, Aglan M, Temtamy S, Hamid MA, Argente J, Ruiz-Pérez VL, Heath KE, Lapunzina P
Am J Med Genet A 2017 Mar;173(3):601-610. Epub 2017 Jan 27 doi: 10.1002/ajmg.a.37991. PMID: 28127875
Foster BL, Sheen CR, Hatch NE, Liu J, Cory E, Narisawa S, Kiffer-Moreira T, Sah RL, Whyte MP, Somerman MJ, Millán JL
J Dent Res 2015 May;94(5):706-14. Epub 2015 Feb 25 doi: 10.1177/0022034515573273. PMID: 25716980Free PMC Article
Haliloglu B, Guran T, Atay Z, Abali S, Mornet E, Bereket A, Turan S
Eur J Pediatr 2013 Jun;172(6):851-3. Epub 2012 Oct 24 doi: 10.1007/s00431-012-1868-4. PMID: 23093139

Recent systematic reviews

Smart G, Jensen ED, Poirier BF, Sethi S
Eur Arch Paediatr Dent 2023 Aug;24(4):429-440. Epub 2023 Apr 10 doi: 10.1007/s40368-023-00796-0. PMID: 37036643

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