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EIF2AK3 and diabetes mellitus are reported together in 9 articles.
Gene
EIF2AK3
- HGNC
- HGNC:3255
12articles
12mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Diabetes mellitus
2,156articles
2,156mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
9 records shown · first 60Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity.
PMID 41275391 | PMCID PMC12780942 | DOI 10.1515/jpem-2025-0316 · Journal of pediatric endocrinology & metabolism : JPEM · 2026 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EIF2AK3 | “The commonest causes in Group 1 and Group 2 were pathogenic variants in the EIF2AK3 and WFS1 genes, respectively.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | WFS1 | “The commonest causes in Group 1 and Group 2 were pathogenic variants in the EIF2AK3 and WFS1 genes, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | ZNF808 | “Pathogenic variants in recently reported novel genes ZNF808, NARS2, and FICD were detected in 8.5 %, 4.2%, and 1.4 % of patients, respectively.” | 0.98 | hgnc_dict_v1 |
Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan.
PMID 40302952 | PMCID PMC12016844 | DOI 10.1155/2024/2032425 · Pediatric diabetes · 2024 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EIF2AK3 | “The commonest genetic cause for permanent neonatal diabetes was EIF2AK3 recessive variants causing Wolcott-Rallison syndrome (18.92%).” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | ZNF808 | “Pathogenic variants in two recently identified genes, ZNF808 and NARS2, were found in three patients each (8.11%).” | 0.98 | hgnc_dict_v1 |
| gene | NARS2 | “Pathogenic variants in two recently identified genes, ZNF808 and NARS2, were found in three patients each (8.11%).” | 0.98 | hgnc_dict_v1 |
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
PMID 33495992 | DOI 10.1111/cge.13930 · Clinical genetics · 2021 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EIF2AK3 | “PDIA6 regulates the UPR sensing proteins, Inositol requiring enzyme 1, and EIF2AK3.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | PDIA6 | “Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Phenotypic correlation with the mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes.” | 0.98 | phenotype_alias_lexicon_v2 |
EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report.
PMID 30922274 | PMCID PMC6438019 | DOI 10.1186/s12887-019-1432-8 · BMC pediatrics · 2019 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EIF2AK3 | “EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “We report a patient with WRS born to a consanguineous marriage due to a novel biallelic frameshift mutation in the EIF2AK3 gene. CASE PRESENTATION: Our patient was a 2-year-and-6-month-old Yemeni girl born to consanguineous parents who was diagnosed with neonatal diabetes at 20 days of age. CONCLUSIONS: Wolcott-Rallison syndrome is recognized as the most common cause of early-onset diabetes in infants born to consanguineous marriages.” | 0.80 | saudi_context_rules_v1 |
Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates.
PMID 26463504 | DOI 10.1002/ajmg.a.37419 · American journal of medical genetics. Part A · 2016 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EIF2AK3 | “Of the PNDM patients, nine had recessive EIF2AK3 mutations, six had homozygous INS mutations, two with deletion of the PTF1A enhancer, one was heterozygous for KCNJ11 mutation, one harboured a novel ABCC8 variant, and 4/21 without mutations in all known PNDM genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | INS | “Of the PNDM patients, nine had recessive EIF2AK3 mutations, six had homozygous INS mutations, two with deletion of the PTF1A enhancer, one was heterozygous for KCNJ11 mutation, one harboured a novel ABCC8 variant, and 4/21 without mutations in all known PNDM genes.” | 0.98 | hgnc_dict_v1 |
| gene | PTF1A | “Of the PNDM patients, nine had recessive EIF2AK3 mutations, six had homozygous INS mutations, two with deletion of the PTF1A enhancer, one was heterozygous for KCNJ11 mutation, one harboured a novel ABCC8 variant, and 4/21 without mutations in all known PNDM genes.” | 0.98 | hgnc_dict_v1 |
Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.
PMID 25659842 | PMCID PMC4464042 | DOI 10.1159/000369804 · Hormone research in paediatrics · 2015 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EIF2AK3 | “BACKGROUND: Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “BACKGROUND: Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | skeletal dysplasia | “BACKGROUND: Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.S991N | “The p.S991N mutation was associated with prolonged survival and p.I650T with delayed onset.” | 0.95 | hgvs_regex_v1 |
Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review.
PMID 23759358 | PMCID PMC3679509 | DOI 10.3402/ljm.v8i0.21137 · The Libyan journal of medicine · 2013 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EIF2AK3 | “BACKGROUND: Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), skeletal dysplasia, and recurrent hepatitis.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “BACKGROUND: Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), skeletal dysplasia, and recurrent hepatitis.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | skeletal dysplasia | “BACKGROUND: Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), skeletal dysplasia, and recurrent hepatitis.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review. OBJECTIVES: To define the frequency and spectrum of WRS in the Kingdom of Saudi Arabia (KSA) based on published data. RESULTS: Ten articles describing 23 WRS patients from 12 Saudi families from 1995 to 2012 were identified. All Saudi patients with WRS presented with PNDM, and they represent 59% of all PNDM cases from WRS.” | 0.95 | saudi_context_rules_v1 |
Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.
PMID 22060631 | DOI 10.1111/j.1399-5448.2011.00828.x · Pediatric diabetes · 2012 · 13 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EIF2AK3 | “Sequencing of KCNJ11, ABCC8, and INS were performed initially on all subjects, and EIF2AK3, GLIS3, SLC2A2, SLC19A2, GCK, IPF1, and NEUROD1 genes were sequenced according to the clinical phenotype.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | KCNJ11 | “BACKGROUND: Permanent neonatal diabetes mellitus (PNDM) in European population has an incidence of at least 1 in 260 000 live births and is most commonly due to mutations in KCNJ11 and ABCC8.” | 0.98 | hgnc_dict_v1 |
| gene | ABCC8 | “BACKGROUND: Permanent neonatal diabetes mellitus (PNDM) in European population has an incidence of at least 1 in 260 000 live births and is most commonly due to mutations in KCNJ11 and ABCC8.” | 0.98 | hgnc_dict_v1 |
Permanent neonatal diabetes: different aetiology in Arabs compared to Europeans.
PMID 22859427 | DOI 10.1136/archdischild-2012-301744 · Archives of disease in childhood · 2012 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EIF2AK3 | “Recessive EIF2AK3 gene mutations were the commonest cause of PNDM in the Arab cohort (22.7%) followed by INS (12.5%), and KCNJ11 and GCK (5.7% each), whereas K(ATP) channel mutations were the commonest cause (29.9%) in the British cohort.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Permanent neonatal diabetes: different aetiology in Arabs compared to Europeans.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | KCNJ11 | “OBJECTIVE: Mutations in the KCNJ11 and ABCC8 genes that encode the pancreatic K(ATP) channel are the commonest cause of permanent neonatal diabetes mellitus (PNDM).” | 0.98 | hgnc_dict_v1 |
| gene | ABCC8 | “OBJECTIVE: Mutations in the KCNJ11 and ABCC8 genes that encode the pancreatic K(ATP) channel are the commonest cause of permanent neonatal diabetes mellitus (PNDM).” | 0.98 | hgnc_dict_v1 |