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Prenatal benign hypophosphatasia

MedGen UID:
1842672
•Concept ID:
C5679616
•
Disease or Syndrome
Synonyms: Prenatal benign phosphoethanolaminuria; Prenatal benign Rathbun disease
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.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Orphanet: ORPHA247638

Definition

A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrenatal benign hypophosphatasia

Professional guidelines

PubMed

Utility of genetic testing for prenatal presentations of hypophosphatasia.
Sperelakis-Beedham B, Taillandier A, Domingues C, Guberto M, Colin E, Porquet-Bordes V, Rothenbuhler A, Salles JP, Wenkert D, Zankl A, Muti C, Bacrot S, Simon-Bouy B, Mornet E
Mol Genet Metab 2021 Mar;132(3):198-203. Epub 2021 Jan 27 doi: 10.1016/j.ymgme.2021.01.009. PMID: 33549410

Recent clinical studies

Diagnosis

Utility of genetic testing for prenatal presentations of hypophosphatasia.
Sperelakis-Beedham B, Taillandier A, Domingues C, Guberto M, Colin E, Porquet-Bordes V, Rothenbuhler A, Salles JP, Wenkert D, Zankl A, Muti C, Bacrot S, Simon-Bouy B, Mornet E
Mol Genet Metab 2021 Mar;132(3):198-203. Epub 2021 Jan 27 doi: 10.1016/j.ymgme.2021.01.009. PMID: 33549410
Prenatal diagnosis facilitated prompt enzyme replacement therapy for prenatal benign hypophosphatasia.
Ishijima Y, Iizuka T, Kagami K, Masumoto S, Nakade K, Mitani Y, Niida Y, Watanabe A, Yamazaki R, Ono M, Fujiwara H
J Obstet Gynaecol 2020 Jan;40(1):132-134. Epub 2019 Jul 23 doi: 10.1080/01443615.2019.1606177. PMID: 31335231

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