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Perinatal lethal hypophosphatasia(HPPN)

MedGen UID:
392928
•Concept ID:
C2673477
•
Disease or Syndrome
Synonym: Hypophosphatasia, Perinatal Lethal
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 recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016605
OMIM®: 171760; 241500
Orphanet: ORPHA247623

Definition

A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization <i>in utero</i> due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPerinatal lethal hypophosphatasia

Professional guidelines

PubMed

Management of Craniosynostosis in Lethal Perinatal Hypophosphatasia.
Kim EN, Leung KL, Wong A, McGregor J, Skolnick GB, Patel KB, Gosman AA
J Craniofac Surg 2023 Nov-Dec 01;34(8):2422-2425. Epub 2023 Aug 23 doi: 10.1097/SCS.0000000000009641. PMID: 37610006

Recent clinical studies

Etiology

Analysis of musculoskeletal dysmorphic abnormalities of 20 fetuses.
Konya MN, Elmas M, Özdemir Ç
Eklem Hastalik Cerrahisi 2017 Aug;28(2):114-20. doi: 10.5606/ehc.2017.52020. PMID: 28760128
Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.
Sağlam H, Erdöl Ş, Dorum S
J Clin Res Pediatr Endocrinol 2017 Sep 1;9(3):229-236. Epub 2017 Jun 30 doi: 10.4274/jcrpe.4549. PMID: 28663156Free PMC Article
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.
Olech EM, Zemojtel T, Sowińska-Seidler A, Mundlos S, Robinson PN, Karczewski M, Jamsheer A
Pol J Pathol 2016 Mar;67(1):78-83. doi: 10.5114/pjp.2016.59480. PMID: 27179278

Diagnosis

Analysis of musculoskeletal dysmorphic abnormalities of 20 fetuses.
Konya MN, Elmas M, Özdemir Ç
Eklem Hastalik Cerrahisi 2017 Aug;28(2):114-20. doi: 10.5606/ehc.2017.52020. PMID: 28760128
Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.
Sağlam H, Erdöl Ş, Dorum S
J Clin Res Pediatr Endocrinol 2017 Sep 1;9(3):229-236. Epub 2017 Jun 30 doi: 10.4274/jcrpe.4549. PMID: 28663156Free PMC Article
Specific ultrasonographic features of perinatal lethal hypophosphatasia.
Zankl A, Mornet E, Wong S
Am J Med Genet A 2008 May 1;146A(9):1200-4. doi: 10.1002/ajmg.a.32202. PMID: 18386808
Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia.
Watanabe A, Yamamasu S, Shinagawa T, Suzuki Y, Miyake H, Takeshita T, Orimo H, Shimada T
J Nippon Med Sch 2007 Feb;74(1):65-9. doi: 10.1272/jnms.74.65. PMID: 17384481
Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings.
Shohat M, Rimoin DL, Gruber HE, Lachman RS
Pediatr Radiol 1991;21(6):421-7. doi: 10.1007/BF02026677. PMID: 1749675

Therapy

Findings of amplitude-integrated electroencephalogram recordings and serum vitamin B6 metabolites in perinatal lethal hypophosphatasia during enzyme replacement therapy.
Ishiguro T, Sugiyama Y, Ueda K, Muramatsu Y, Tsuda H, Kotani T, Michigami T, Tachikawa K, Akiyama T, Hayakawa M
Brain Dev 2019 Sep;41(8):721-725. Epub 2019 Apr 15 doi: 10.1016/j.braindev.2019.03.015. PMID: 31000369
Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy.
Rodriguez E, Bober MB, Davey L, Zamora A, Li Puma AB, Chidekel A, Shaffer TH
Pediatr Pulmonol 2012 Sep;47(9):917-22. Epub 2012 Feb 10 doi: 10.1002/ppul.22527. PMID: 22328548

Prognosis

Management of Craniosynostosis in Lethal Perinatal Hypophosphatasia.
Kim EN, Leung KL, Wong A, McGregor J, Skolnick GB, Patel KB, Gosman AA
J Craniofac Surg 2023 Nov-Dec 01;34(8):2422-2425. Epub 2023 Aug 23 doi: 10.1097/SCS.0000000000009641. PMID: 37610006
Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.
Sağlam H, Erdöl Ş, Dorum S
J Clin Res Pediatr Endocrinol 2017 Sep 1;9(3):229-236. Epub 2017 Jun 30 doi: 10.4274/jcrpe.4549. PMID: 28663156Free PMC Article
Clinics in diagnostic imaging (112). Perinatal lethal hypophosphatasia (PLH).
Kritsaneepaiboon S, Jaruratanasirikul S, Dissaneevate S
Singapore Med J 2006 Nov;47(11):987-92; quiz 993. PMID: 17075671
Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Sergi C, Mornet E, Troeger J, Voigtlaender T
Am J Med Genet 2001 Oct 15;103(3):235-40. PMID: 11745997

Clinical prediction guides

Management of Craniosynostosis in Lethal Perinatal Hypophosphatasia.
Kim EN, Leung KL, Wong A, McGregor J, Skolnick GB, Patel KB, Gosman AA
J Craniofac Surg 2023 Nov-Dec 01;34(8):2422-2425. Epub 2023 Aug 23 doi: 10.1097/SCS.0000000000009641. PMID: 37610006
Analysis of musculoskeletal dysmorphic abnormalities of 20 fetuses.
Konya MN, Elmas M, Özdemir Ç
Eklem Hastalik Cerrahisi 2017 Aug;28(2):114-20. doi: 10.5606/ehc.2017.52020. PMID: 28760128
Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.
Sağlam H, Erdöl Ş, Dorum S
J Clin Res Pediatr Endocrinol 2017 Sep 1;9(3):229-236. Epub 2017 Jun 30 doi: 10.4274/jcrpe.4549. PMID: 28663156Free PMC Article
Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy.
Rodriguez E, Bober MB, Davey L, Zamora A, Li Puma AB, Chidekel A, Shaffer TH
Pediatr Pulmonol 2012 Sep;47(9):917-22. Epub 2012 Feb 10 doi: 10.1002/ppul.22527. PMID: 22328548
Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings.
Shohat M, Rimoin DL, Gruber HE, Lachman RS
Pediatr Radiol 1991;21(6):421-7. doi: 10.1007/BF02026677. PMID: 1749675

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