SynthesisInternational journal of environmental research and public health2022
Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum.
Synthesis in International journal of environmental research and public health, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 20 citations in OpenAlex.
- Circadian Rhythm and Psychiatric Features in Wolfram Syndrome: Toward Chrono Diagnosis and Chronotherapy.Diagnostics (Basel, Switzerland) · 2025Article
- Synthesis of 2D Tungsten disulphide WSDiscover nano · 2025Review
- Reciprocal rescue of Wolfram syndrome by two causative genes.EMBO reports · 2025Article
- SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome.Journal of endocrinological investigation · 2025Review
- The Labile Side of Iron in Health and Disease: A Narrative Review.Advances in experimental medicine and biology · 2025Review
- CISD3/MiNT is required for complex I function, mitochondrial integrity, and skeletal muscle maintenance.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment.Italian journal of pediatrics · 2023Article
- Wolfram syndrome type 1: a case series.Orphanet journal of rare diseases · 2023Article
- Article
- Bilateral Congenital Agenesis of Stapes and Oval Window in Two Members of a Family (Brother and Sister).Turkish archives of otorhinolaryngology · 2023Article
- Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis.Healthcare (Basel, Switzerland) · 2023Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWolfram syndrome (WS) is a rare autosomal recessive disorder that is characterized by the presence of diabetes mellitus, optic atrophy and hearing loss, all of which are crucial elements for the diagnosis. WS is variably associated with diabetes insipidus, neurological disorders, urinary tract anomalies, endocrine dysfunctions and many other systemic manifestations. Since Wolfram and Wagener first described WS in 1938, new phenotypic/genotypic variants of the syndrome have been observed and the clinical picture has been significantly enriched. To date, two main subtypes of WS that associated with two different mutations are known: WS type 1 (WS1), caused by the mutation of the wolframine gene (WS1; 606201), and WS type 2 (WS2), caused by the mutation of the CISD2 gene (WS2; 604928).
methodsA systematic review of the literature was describe the phenotypic characteristics of WS2 in order to highlight the key elements that differentiate it from the classic form.
conclusionWS2 is the rarest and most recently identified subtype of WS; its clinical picture is partially overlapping with that of WS1, from which it traditionally differs by the absence of diabetes insipidus and the presence of greater bleeding tendency and peptic ulcers.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.