Details of Disease

General Information of Disease (ID: DIS5HFLJ)

Disease Name Ferro-cerebro-cutaneous syndrome
Synonyms FCCS; cerebro-cutaneous syndrome with iron overload
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.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163)
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISO5FAY: Inborn error of metabolism
DISPN7D2: Inherited neurodegenerative disorder
DIS5HFLJ: Ferro-cerebro-cutaneous syndrome
Disease Identifiers
MONDO ID
MONDO_0018346
UMLS CUI
C4751570
OMIM ID
301072
MedGen ID
1658844
Orphanet ID
397922
SNOMED CT ID
774151000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PIGA OT51UWUR Supportive X-linked [1]
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References

1 A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. Am J Med Genet A. 2014 Jan;164A(1):17-28. doi: 10.1002/ajmg.a.36189. Epub 2013 Nov 20.