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

Case Report: ROSAH syndrome presents diagnostic and therapeutic challenges

25 Mar 2025

Abstract excerpt

Background: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache (ROSAH) syndrome is an autosomal dominant disorder caused by a heterozygous missense mutation in alpha kinase 1 (ALPK1). This series reports the presentation and treatment outcomes of three first-degree relatives with ROSAH syndrome. Methods: Retrospective chart review, whole exome sequencing. Results: A 16-year-old male...

Read the complete abstract on PubMed

Topics

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

Share to Biomedical Research and Pathophysiology
Share to Dermatological and Skeletal Disorders
Share to Osteomyelitis and Bone Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40201710
DOI: 10.3389/fopht.2025.1535805

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Case Report: ROSAH syndrome presents diagnostic and therapeutic challengesPMID 40201710Read ↗

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.Semantic proximity Read ↗

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorderSemantic proximity Read ↗

ROSAH syndrome mimicking chronic uveitis.Semantic proximity Read ↗

Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.Semantic proximity Read ↗

ROSAH syndrome lacking splenomegaly and complete anhidrosis.Semantic proximity Read ↗

Ocular features in Alport syndrome: pathogenesis and clinical significance.Semantic proximity Read ↗

Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome.Semantic proximity Read ↗

Early Onset of TNFα-Driven Arthritis, Auto-inflammation, and Progressive Loss of Vision in a Patient with ALPK1 MutationSemantic proximity Read ↗

Discovery and Functional analysis of a novel <i>ALPK1</i> variant in ROSAH syndromeSemantic proximity Read ↗

Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females.Semantic proximity Read ↗

A Rare Gene Mutation Disorder With Fever To Be DetectedSemantic proximity Read ↗

Bull's eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch's membrane in Alport syndrome.Semantic proximity Read ↗

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