| Concept (disease/gene/enzyme) | Identifier type | Identifier/value | Notes/synonyms | Evidence snippet (short quote) | Source (authors year, URL) |
|---|---|---|---|---|---|
| Disease | Preferred name | Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) | Also written as “spinal muscular atrophy with progressive myoclonic epilepsy”; ASAH1-related acid ceramidase deficiency phenotype | “Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)” (pqac-00000003, pqac-00000006) | Cuinat et al. 2025, https://doi.org/10.1212/nxg.0000000000200243; Najafi et al. 2023, https://doi.org/10.1186/s13052-023-01474-z |
| Disease | OMIM/MIM | MIM #159950 | Explicitly given for SMA-PME | “SMA-PME (MIM#159950)” (pqac-00000003) | Cuinat et al. 2025, https://doi.org/10.1212/nxg.0000000000200243 |
| Disease | Disease classification / related disorder | Acid ceramidase deficiency | SMA-PME is described as an ASAH1-related acid ceramidase deficiency disorder allelic with Farber disease | “SMA-PME due to acid ceramidase deficiency is a rare disorder, allelic with Farber disease” (pqac-00000003) | Cuinat et al. 2025, https://doi.org/10.1212/nxg.0000000000200243 |
| Disease | Related disease OMIM/MIM | Farber disease (FD; MIM #228000) | Allelic disorder within ASAH1 deficiency spectrum | “Farber disease (FD; MIM#228000) and SMA-PME (MIM#159950)” (pqac-00000003) | Cuinat et al. 2025, https://doi.org/10.1212/nxg.0000000000200243 |
| Disease | MONDO | Not in retrieved sources | No MONDO identifier explicitly stated in retrieved evidence | “The excerpt does not provide Orphanet, MONDO, MeSH, or ICD codes.” (pqac-00000003) | Cuinat et al. 2025, https://doi.org/10.1212/nxg.0000000000200243 |
| Disease | Orphanet | Not in retrieved sources | No Orphanet identifier explicitly stated in retrieved evidence | “The excerpt does not provide Orphanet, MONDO, MeSH, or ICD codes.” (pqac-00000003) | Cuinat et al. 2025, https://doi.org/10.1212/nxg.0000000000200243 |
| Disease | MeSH | Not in retrieved sources | No MeSH identifier explicitly stated in retrieved evidence | “The excerpt does not provide Orphanet, MONDO, MeSH, or ICD codes.” (pqac-00000003) | Cuinat et al. 2025, https://doi.org/10.1212/nxg.0000000000200243 |
| Disease | ICD-10/ICD-11 | Not in retrieved sources | No ICD code explicitly stated in retrieved evidence | “The excerpt does not provide Orphanet, MONDO, MeSH, or ICD codes.” (pqac-00000003) | Cuinat et al. 2025, https://doi.org/10.1212/nxg.0000000000200243 |
| Gene | Gene symbol | ASAH1 | Causative gene for SMA-PME; recessive biallelic pathogenic variants | “biallelic pathogenic variants in ASAH1 gene” (pqac-00000006, pqac-00000011) | Najafi et al. 2023, https://doi.org/10.1186/s13052-023-01474-z |
| Gene | Full gene/protein name | N-acylsphingosine amidohydrolase 1 (ASAH1) | Gene encodes lysosomal acid ceramidase | “encodes N-Acylsphingosine Amidohydrolase 1 (ASAH1)” (pqac-00000008, pqac-00000009) | Nishio et al. 2024, https://doi.org/10.3390/genes15101294 |
| Gene | Chromosomal location | 8p22 | Explicitly stated in retrieved evidence | “ASAH1 (14 exons, located at 8p22)” (pqac-00000006, pqac-00000011) | Najafi et al. 2023, https://doi.org/10.1186/s13052-023-01474-z |
| Gene | Alternative cytogenetic location wording | 8p23.3–p21.3 | Alternate location wording reported in review | “mapped to chromosome 8p23.3–p21.3” (pqac-00000008) | Nishio et al. 2024, https://doi.org/10.3390/genes15101294 |
| Enzyme/protein | Enzyme name | Acid ceramidase (ACDase; aCDase) | Lysosomal hydrolase encoded by ASAH1; synonyms ACDase/aCDase | “ASAH1 encodes acid ceramidase (aCDase)” (pqac-00000006); “ACDase (acid ceramidase)” (pqac-00000022) | Najafi et al. 2023, https://doi.org/10.1186/s13052-023-01474-z; Cuinat et al. 2025, https://doi.org/10.1212/nxg.0000000000200243 |
| Disease information source type | Evidence provenance | Aggregated disease-level literature/case series; not EHR-derived in retrieved sources | Retrieved evidence consists of case reports, case series, reviews, and a natural history study | “we present the detailed history of 9 patients… Based on a comprehensive literature review” (pqac-00000003); “three new cases and review of the mutational spectrum” (pqac-00000004) | Cuinat et al. 2025, https://doi.org/10.1212/nxg.0000000000200243; Najafi et al. 2023, https://doi.org/10.1186/s13052-023-01474-z |


*Table: This table summarizes the explicitly stated disease, gene, and enzyme identifiers and nomenclature retrieved for ASAH1-related spinal muscular atrophy with progressive myoclonic epilepsy. It is useful for normalization of disease knowledge base entries while clearly marking identifiers that were not available in the retrieved evidence.*