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

Hirschsprung's disease and a rare mutation of the PIGO gene: Mabry syndrome.

The Turkish journal of pediatrics - 11 Sept 2026

Tartar Tugay, Kırık Serkan, Çalık Muhammet

Abstract excerpt

BACKGROUND: Mabry syndrome is a very rare condition characterized by cognitive impairment, distinctive facial features, hypotonia, elevated alkaline phosphatase (ALP) levels in the blood (hyperphosphatasia), and recurrent generalized tonic-clonic seizures. It can be accompanied by gastrointestinal anomalies such as Hirschsprung's disease (HD). In this study, we aim to present a case of hyperphosphatasia with...

Read the complete abstract on PubMed

Topics

Humans
Male
Hirschsprung Disease
Child, Preschool
Mutation
Intellectual Disability
Abnormalities, Multiple

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

Phosphorus Metabolism Disorders

Source

Identifiers

PMID: 42777207
DOI: 10.24953/turkjpediatr.2026.7661

Genes

PIGO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 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

Hirschsprung's disease and a rare mutation of the PIGO gene: Mabry syndrome.PMID 42777207Read ↗

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.Semantic proximity Read ↗

Clinical and genetic analysis of two Chinese infants with Mabry syndrome.Semantic proximity Read ↗

Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations.Semantic proximity Read ↗

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.Semantic proximity Read ↗

A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.Semantic proximity Read ↗

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.Semantic proximity Read ↗

Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3).Semantic proximity Read ↗

PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.Semantic proximity Read ↗

Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG-An Observational Study and Literature Review.Semantic proximity Read ↗

Mutations in PIGL in a patient with Mabry syndromeSemantic proximity Read ↗

The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature reviewSemantic proximity Read ↗

The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.Semantic proximity Read ↗

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