MCID: FRR002
MIFTS: 9

Ferro-Cerebro-Cutaneous Syndrome

Categories: Neuronal diseases, Liver diseases, Rare diseases

Aliases & Classifications for Ferro-Cerebro-Cutaneous Syndrome

MalaCards integrated aliases for Ferro-Cerebro-Cutaneous Syndrome:

Name: Ferro-Cerebro-Cutaneous Syndrome 59
Cerebro-Cutaneous Syndrome with Iron Overload 59

Characteristics:

Orphanet epidemiological data:

59
ferro-cerebro-cutaneous syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

Classifications:



External Ids:

Orphanet 59 ORPHA397922
ICD10 via Orphanet 34 G23.0

Summaries for Ferro-Cerebro-Cutaneous Syndrome

MalaCards based summary : Ferro-Cerebro-Cutaneous Syndrome, also known as cerebro-cutaneous syndrome with iron overload, is related to multiple congenital anomalies-hypotonia-seizures syndrome 2 and hemosiderosis. An important gene associated with Ferro-Cerebro-Cutaneous Syndrome is PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A). Affiliated tissues include liver.

Related Diseases for Ferro-Cerebro-Cutaneous Syndrome

Diseases related to Ferro-Cerebro-Cutaneous Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 multiple congenital anomalies-hypotonia-seizures syndrome 2 11.4
2 hemosiderosis 10.2
3 encephalopathy 10.2

Symptoms & Phenotypes for Ferro-Cerebro-Cutaneous Syndrome

Drugs & Therapeutics for Ferro-Cerebro-Cutaneous Syndrome

Search Clinical Trials , NIH Clinical Center for Ferro-Cerebro-Cutaneous Syndrome

Genetic Tests for Ferro-Cerebro-Cutaneous Syndrome

Anatomical Context for Ferro-Cerebro-Cutaneous Syndrome

MalaCards organs/tissues related to Ferro-Cerebro-Cutaneous Syndrome:

41
Liver

Publications for Ferro-Cerebro-Cutaneous Syndrome

Articles related to Ferro-Cerebro-Cutaneous Syndrome:

# Title Authors Year
1
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. ( 24259288 )
2014

Variations for Ferro-Cerebro-Cutaneous Syndrome

Expression for Ferro-Cerebro-Cutaneous Syndrome

Search GEO for disease gene expression data for Ferro-Cerebro-Cutaneous Syndrome.

Pathways for Ferro-Cerebro-Cutaneous Syndrome

GO Terms for Ferro-Cerebro-Cutaneous Syndrome

Sources for Ferro-Cerebro-Cutaneous Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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