Ferro-cerebro-cutaneous syndrome
Synonyms: Cerebro-cutaneous syndrome with iron overload
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy
- Status
- active
A rare neurodegenerative 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ferro-cerebro-cutaneous syndrome | Cerebro-cutaneous syndrome with iron overload |
| fr | Syndrome ferro-cérébro-cutané | Syndrome cérébro-cutané avec surcharge en fer |
| de | Ferro-zerebro-kutanes Syndrom | Zerebro-kutanes Syndrom mit Eisenüberladung |
| es | Síndrome férrico-cerebro-cutáneo | Síndrome cerebro-cutáneo con sobrecarga de hierro |
| it | Sindrome ferro-cerebro-cutanea | Sindrome cerebro-cutanea con sovrccarico di ferro |
| nl | Ferro-cerebro-cutaan syndroom | Cerebro-cutaan syndroom met ijzerstapeling |
| pt | Síndrome ferro - cérebro - cutâneo | |
| pl | Zespół mózgowo-skórny z gromadzeniem żelaza | = en |
| cs | Fero-cerebro-kutánní syndrom | Cerebro-kutánní syndrom s přetížením železem |
| uk | Ферроцереброкутанний синдром | Церебро-шкірний синдром з надлишком заліза |
| zh | 铁超负荷-脑-皮肤综合征 | 脑皮肤综合征伴铁超载 |
| tr | Ferro-serebro-kutanöz sendrom | Aşırı demir yüklemesi ile seyreden serebro-kütanöz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301072 | BTNT | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | 5C64.10 | NTBT | attributed | validated |
| MONDO | 0018346 | E | validated | |
| UMLS | C4751570 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:309515Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:156604Genetic parenchymatous liver disease
rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIGA | Disease-causing germline mutation(s) in | Assessed | HGNC:8957 | ENSG00000165195 | 311770 | Xp22.2 | phosphatidylinositol glycan anchor biosynthesis class A | 24259288[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24259288[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24259288[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397922
- This record as JSON: /data/d/397922.json