IEMbase 0301: SUMF1-related Formyl-glycine generating enzyme deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 301 |
| Nosology | 20.1.12.01 |
| Gene | SUMF1 |
| External IDs | OMIM:272200; ORPHA:585 |
| Generated mapping | AMBIGUOUS; Multiple_Sulfatase_Deficiency.yaml and subtypes |
| Candidate DisMech targets | Multiple_Sulfatase_Deficiency.yaml#Neonatal; #Infantile; #Juvenile; file-level Multiple_Sulfatase_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents multiple sulfatase deficiency / mucosulfatidosis due to SUMF1 formylglycine-generating enzyme deficiency. Inheritance is autosomal recessive and treatability is unknown.
Clinical rows include coarse facial features, gait disturbance, CNS hypomyelination, intellectual disability, leukodystrophy, slow nerve conduction velocity, cardiopulmonary failure, cortical atrophy, dysostosis multiplex, gingival hyperplasia, growth retardation, hepatosplenomegaly, hydrocephalus, axial hypotonia, ichthyosis, neurologic deterioration, ophthalmologic anomalies, psychomotor retardation, seizures, spasticity, and speech disturbance. The cached record does not include biochemical rows, despite the disease being defined by multiple sulfatase activity loss.
DisMech phenotype coverage
Multiple_Sulfatase_Deficiency.yaml is the correct local target. The generated
ambiguity arises because the file has Neonatal, Infantile, and Juvenile
subtypes in addition to the disease-level match; this is not a true mapping
conflict.
The local entry models SUMF1/FGE deficiency, impaired post-translational sulfatase activation, reduced multiple sulfatase activities, glycosaminoglycan and sulfatide storage, neuroglial lysosomal dysfunction, neurodegeneration, retinal/auditory degeneration, and skeletal/joint manifestations. Local phenotype coverage is broad and includes hydrocephalus, leukodystrophy, microcephaly, macrocephaly, coarse facial features, sensorineural hearing impairment, visual impairment, cataract, optic atrophy, intellectual disability, seizure, global developmental delay, neonatal hypotonia, joint stiffness, hepatosplenomegaly, developmental regression, abnormal peripheral nerve conduction, short stature, rapid neurologic deterioration, retinal pigmentary abnormality, corneal opacity, ichthyosis, mucopolysacchariduria, broad hallux, and broad thumb.
Concordance and completeness
Judgement: correct mapping to file-level Multiple_Sulfatase_Deficiency.yaml;
the generated subtype ambiguity is expected.
IEMbase and DisMech agree on SUMF1 identity, recessive inheritance, MSD scope, leukodystrophy/hypomyelination, peripheral nerve conduction abnormality, developmental and neurologic deterioration, seizures, spasticity/hypotonia, coarse facial features, hepatosplenomegaly, ichthyosis, hydrocephalus, ophthalmologic involvement, dysostosis, growth impairment, and cardiopulmonary disease. DisMech is stronger for biochemical mechanism, subtype structure, sulfatase activation biology, storage substrates, ocular and auditory detail, and experimental treatment context.
IEMbase adds concrete rows for cortical atrophy, cardiopulmonary failure, gingival hyperplasia, speech disturbance, and gait disturbance. Conversely, IEMbase lacks the local biochemical rows for reduced multiple sulfatase activities and GAG/sulfatide accumulation.
Curation actions
- Resolve the generated ambiguity to file-level
Multiple_Sulfatase_Deficiency.yaml. - Use subtype rows only when a source phenotype is explicitly neonatal, infantile, or juvenile.
- Review IEMbase cortical atrophy, cardiopulmonary failure, gingival hyperplasia, speech, and gait rows as possible local additions.