IEMbase 0199: ATP7A-related Menkes disease
Scope
| Field | Value |
|---|---|
| IEMbase ID | 199 |
| Nosology | 22.1.02.01 |
| Gene | ATP7A |
| External IDs | OMIM:309400; ORPHA:565 |
| Generated mapping | MAPPED; Menkes_Disease.yaml |
| Candidate DisMech targets | Menkes_Disease.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as ATP7A-related copper-transporting ATPase subunit alpha deficiency (Menkes), with alternate labels Menkes disease, kinky or steely hair disease, and MNK/MK. Treatability is marked yes.
The biochemical rows include decreased serum ceruloplasmin, decreased CSF copper, increased duodenal copper, decreased liver copper, and decreased serum copper. Characteristic clinical rows include anemia, connective tissue abnormalities, convulsions, cutis laxa, feeding difficulties, hair abnormality, hypothermia, kinky hair, peculiar facies, and psychomotor retardation. Additional rows include absent iris pigment, arterial ruptures, bladder diverticula, delayed tooth eruption, progressive encephalopathy, hernias, intellectual disability, neutropenia, optic nerve pallor, ptosis, retinal hemorrhage, spasticity, and tortuous arteries. The treatment row lists copper histidine, increasing ceruloplasmin and copper and targeting metabolic, cognitive/developmental, and seizure phenotypes.
DisMech phenotype coverage
Menkes_Disease.yaml is the correct target. The local entry covers ATP7A
loss-of-function, X-linked copper transport disease, failed epithelial copper
export, low circulating copper and ceruloplasmin, brain copper deficiency,
cuproenzyme deficiency, mitochondrial redox imbalance, lysyl oxidase-related
connective tissue fragility, vascular tortuosity, bladder diverticula, hair
shaft and pigmentation defects, neurodevelopmental delay, seizures, hypotonia,
failure to thrive, pili torti/kinky hair, cutis laxa, cerebral atrophy,
arterial tortuosity, subdural hemorrhage, fair hair, copper histidinate,
ATP7A gene therapy context, biochemical markers, and Menkes/OHS/distal motor
neuropathy subtypes.
Concordance and completeness
Judgement: correct mapped target with high concordance.
IEMbase and DisMech agree on ATP7A/Menkes identity, low serum copper and ceruloplasmin, CSF copper deficiency, copper maldistribution, seizures, neurodevelopmental impairment, feeding difficulty, connective tissue laxity, cutis laxa, kinky hair, bladder/vascular manifestations, spasticity, and copper histidine/histidinate treatment. IEMbase adds compartment-specific duodenal and liver copper rows, hypothermia, anemia, neutropenia, absent iris pigment, optic nerve pallor, ptosis, retinal hemorrhage, delayed tooth eruption, and arterial rupture as possible enrichment targets. DisMech is richer for mechanism, genotype-severity framing, subtypes, catecholamine biomarkers, and emerging gene therapy context.
Curation actions
- Keep this record mapped to
Menkes_Disease.yaml. - Consider adding duodenal/liver copper compartment detail, hypothermia, anemia, neutropenia, ocular findings, delayed tooth eruption, and arterial rupture if the Menkes entry is enriched.
- Keep copper histidine terminology aligned with the local copper histidinate treatment model.