| Disease / Preferred label | MONDO ID | OMIM | Common synonyms | Inheritance | Causal genes | Key references (date; URL) |
|---|---|---|---|---|---|---|
| Leukoencephalopathy with vanishing white matter | MONDO:0800448 | OMIM: 603896 | Vanishing white matter (VWM); vanishing white matter disease (VWMD); childhood ataxia with central nervous system hypomyelination (CACH); eIF2B-related leukodystrophy; ovarioleukodystrophy (female phenotype with ovarian failure) (pqac-00000000, pqac-00000005, pqac-00000007) | Autosomal recessive / recessive; caused by biallelic pathogenic variants (pqac-00000005, pqac-00000006, pqac-00000008) | **EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5** encoding eIF2B subunits α–ε (pqac-00000000, pqac-00000003, pqac-00000005) | Hamilton et al., *Natural History of Vanishing White Matter* (2018); https://doi.org/10.1002/ana.25287 (pqac-00000010). van der Knaap et al., *Therapy trial design in vanishing white matter* (2022); https://doi.org/10.1212/nxg.0000000000000657 (pqac-00000006). Schoenmakers et al., *Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter* (2023); https://doi.org/10.1186/s12883-023-03354-9 (pqac-00000000). Gui et al., *Adult-onset leukoencephalopathy with vanishing white matter with compound heterozygous EIF2B3 gene variants* (2024); https://doi.org/10.1186/s12883-024-03721-0 (pqac-00000001). |
| Disease-gene evidence summary | MONDO:0800448 | — | Disease-target associations curated in Open Targets support the five canonical EIF2B genes (pqac-00000000) | Recessive disease architecture supported by cohort and review data (pqac-00000005, pqac-00000006) | EIF2B1–EIF2B5 each show disease association evidence; EIF2B5 is frequently highlighted in case and model literature (pqac-00000000, pqac-00000015) | Open Targets disease-target association context for MONDO:0800448 (accessed via collected context) (pqac-00000000). Herstine et al., *Evaluation of safety and early efficacy of AAV gene therapy in mouse models of vanishing white matter disease* (2024); https://doi.org/10.1016/j.ymthe.2024.03.034 (pqac-00000015). |
| Phenotypic subtype / related label | Same core MONDO disease; female ovarian phenotype often discussed separately | OMIM parent disease: 603896 | Ovarioleukodystrophy; adult-onset VWM with ovarian failure (pqac-00000002, pqac-00000007) | Autosomal recessive (pqac-00000007) | EIF2B1–EIF2B5, with missense variants common in reported ovarian cases (pqac-00000002, pqac-00000007) | Escobar-Pacheco et al., *Ovarioleukodystrophy due to EIF2B genes: systematic review and case report* (2024); https://doi.org/10.7759/cureus.64497 (pqac-00000002). Wei et al., *Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia* (2019); https://doi.org/10.1186/s12883-019-1429-9 (pqac-00000000). |


*Table: This table summarizes the core disease identifiers and nomenclature for leukoencephalopathy with vanishing white matter, along with inheritance, canonical causal genes, and high-value references. It is useful as a compact normalization artifact for a disease knowledge base entry.*