ferro-cerebro-cutaneous syndrome
Findings
No curated finding names ferro-cerebro-cutaneous syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.
Definition from the Mondo Disease Ontology (MONDO:0018346), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
45 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 2 of 2 reported patients
- Decreased circulating hepcidin concentrationHPOHP:0031876
- 3 of 3 reported patients
- Elevated circulating iron concentrationHPOHP:0003452
- 4 of 4 reported patients
- Elevated hepatic iron concentrationHPOHP:0012465
- 1 of 1 reported patient
- Elevated transferrin saturationHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PIGAHGNC:8957
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
2 names
Resolves to: ferro-cerebro-cutaneous syndrome
- Also called
- cerebro-cutaneous syndrome with iron overloadFCCS