Evidence map›Paper›PMID 33946243›Full record

ReviewInternational journal of environmental research and public health2021

Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations.

Maurizio Delvecchio, Matteo Iacoviello, Antonino Pantaleo, Nicoletta Resta

Open access · goldAbstract readReview
In one paragraph

Review in International journal of environmental research and public health, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 1 pooled it
3.5field-weighted citation impact, top 7% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

25 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.

  1. Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum.International journal of environmental research and public health · 2022
    Pooled it
  2. Article
  3. Article
  4. Article
  5. The Labile Side of Iron in Health and Disease: A Narrative Review.Advances in experimental medicine and biology · 2025
    Review
  6. Topology ofPediatric diabetes · 2025
    Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. [Research progress on hereditary endocrine and metabolic diseases associated with sensorineural hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024
    Article
  13. Variants ofBiomedical reports · 2023
    Article
  14. Article
  15. Review
  16. Article
  17. Wfs1Cell death & disease · 2023
    Article
  18. New Advances in Diabetes Genetics.International journal of molecular sciences · 2023
    Article
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 2 institutions in 1 country.

Maurizio DelvecchioMetabolic Diseases, Clinical Genetics and Diabetology Unit, Giovanni XXIII Children's Hospital, 70126 Bari, Italy.ORCID 0000-0002-1528-0012
Matteo IacovielloDepartment of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy.ORCID 0000-0003-4253-4361
Antonino PantaleoDepartment of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy.
Nicoletta RestaDepartment of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy.ORCID 0000-0001-8640-5532
University of Bari Aldo Moro · ITOspedale Pediatrico Giovanni XXIII · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Wolfram syndrome is a rare neurodegenerative disorder that is typically characterized by diabetes mellitus and optic atrophy. Other common features are diabetes insipidus and hearing loss, but additional less-frequent findings may also be present. The phenotype spectrum is quite wide, and penetrance may be incomplete. The syndrome is progressive, and thus, the clinical picture may change during follow-up. Currently, two different subtypes of this syndrome have been described, and they are associated with two different disease-genes,

Indexed as

Optic AtrophyWolfram SyndromeGenetic Association StudiesGenotypeHumansMutationPhenotypeCISD2diabetes insipidusdiabetes mellitusERISgenotype-phenotype correlationmolecular geneticsoptic atrophysensorineural hearing losswolframinWolfram syndrome

Identifiers

PMID33946243
PMCPMC8124476
OpenAlexW3158722586

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.