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IDUA and mucopolysaccharidosis are reported together in 2 articles.
Gene
IDUA
- HGNC
- HGNC:5391
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Mucopolysaccharidosis
- HPO
- HP:0008155
37articles
37mentions
10co-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
2 records shown · first 60Progressive Hand Stiffness and Numbness in a Child: An Atypical Neurological Presentation of Scheie Syndrome-A Case Report.
PMID 41441225 | PMCID PMC12736264 | DOI 10.3390/neurolint17120205 · Neurology international · 2025 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | IDUA | “Whole exome sequencing revealed a homozygous IDUA variant, and enzymatic testing confirmed markedly reduced α-L-iduronidase activity, establishing the diagnosis of Scheie syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | mucopolysaccharidosis | “BACKGROUND/OBJECTIVES: Scheie syndrome is the attenuated phenotype of mucopolysaccharidosis type I (MPS I), a lysosomal storage disorder resulting from partial deficiency of α-L-iduronidase.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | lysosomal storage disease | “BACKGROUND/OBJECTIVES: Scheie syndrome is the attenuated phenotype of mucopolysaccharidosis type I (MPS I), a lysosomal storage disorder resulting from partial deficiency of α-L-iduronidase.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “The attenuated clinical spectrum and absence of cognitive impairment often delay recognition.” | 0.93 | phenotype_alias_lexicon_v2 |
Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
PMID 31473686 | DOI 10.1515/jpem-2019-0188 · Journal of pediatric endocrinology & metabolism : JPEM · 2019 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | IDUA | “Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.” | 0.98 | hgnc_dict_v1 |
| phenotype | mucopolysaccharidosis | “Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | inborn error of metabolism | “Early and accurate diagnosis is crucial for the disease management and implementation of an expanded new-born genetic screening program for inborn errors of metabolism including MPS1.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | p.L303P | “A novel missense variant c.908T > C (p.L303P) was mapped in two affected siblings in a cohort in the homozygous form.” | 0.95 | hgvs_regex_v1 |