MCID: PRN048
MIFTS: 8

Prenatal Benign Hypophosphatasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Prenatal Benign Hypophosphatasia

MalaCards integrated aliases for Prenatal Benign Hypophosphatasia:

Name: Prenatal Benign Hypophosphatasia 58
Prenatal Benign Phosphoethanolaminuria 58
Prenatal Benign Rathbun Disease 58

Characteristics:

Orphanet epidemiological data:

58
prenatal benign hypophosphatasia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 E83.3
Orphanet 58 ORPHA247638

Summaries for Prenatal Benign Hypophosphatasia

MalaCards based summary : Prenatal Benign Hypophosphatasia, also known as prenatal benign phosphoethanolaminuria, is related to hypophosphatasia. An important gene associated with Prenatal Benign Hypophosphatasia is ALPL (Alkaline Phosphatase, Biomineralization Associated).

Related Diseases for Prenatal Benign Hypophosphatasia

Diseases related to Prenatal Benign Hypophosphatasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypophosphatasia 10.0

Symptoms & Phenotypes for Prenatal Benign Hypophosphatasia

Drugs & Therapeutics for Prenatal Benign Hypophosphatasia

Search Clinical Trials , NIH Clinical Center for Prenatal Benign Hypophosphatasia

Genetic Tests for Prenatal Benign Hypophosphatasia

Anatomical Context for Prenatal Benign Hypophosphatasia

Publications for Prenatal Benign Hypophosphatasia

Articles related to Prenatal Benign Hypophosphatasia:

# Title Authors PMID Year
1
Prenatal diagnosis facilitated prompt enzyme replacement therapy for prenatal benign hypophosphatasia. 61
31335231 2020

Variations for Prenatal Benign Hypophosphatasia

Expression for Prenatal Benign Hypophosphatasia

Search GEO for disease gene expression data for Prenatal Benign Hypophosphatasia.

Pathways for Prenatal Benign Hypophosphatasia

GO Terms for Prenatal Benign Hypophosphatasia

Sources for Prenatal Benign Hypophosphatasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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