Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.

American journal of medical genetics. Part A - 1 Jul 2020

Carvalho Daniel R, Speck-Martins Carlos E, Brum Jaime M, Ferreira Carlos R, Sobreira Nara L M

Abstract excerpt

Variants in MBTPS1 (membrane-bound transcription factor peptidase, site 1) encoding the protein convertase site-1 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal enzymes. Here, we report the second individual with this newly described autosomal recessive spondyloepiphyseal dysplasia (OMIM #618392), presenting severe growth retardation, cataract...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cataract
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Lysosomal Storage Diseases

Share to Lysosomes

Share to Pedigree

Share to Phenotype

Share to Proprotein Convertases

Share to Serine Endopeptidases

Source

Open in PubMed Open full text

Identifiers

PMID: 32420688
DOI: 10.1002/ajmg.a.61614
PMCID: PMC8136467

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.PMID 32420688Read ↗

A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome.Semantic proximity Read ↗

Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome.Semantic proximity Read ↗

Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.Semantic proximity Read ↗

Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.Semantic proximity Read ↗

Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings.Semantic proximity Read ↗

A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report.Semantic proximity Read ↗

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.Semantic proximity Read ↗

Clinical, biochemical and molecular characterization of prosaposin deficiency.Semantic proximity Read ↗

MBTPS1: a membrane-bound transcription factor protease implicated in the pathogenesis of several skin and skeletal disordersSemantic proximity Read ↗

Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.Semantic proximity Read ↗

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.Semantic proximity Read ↗

De novo loss-of-function variant in PTDSS1 is associated with developmental delay.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.