MCID: FRR002
MIFTS: 10

Ferro-Cerebro-Cutaneous Syndrome

Categories: Liver diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ferro-Cerebro-Cutaneous Syndrome

MalaCards integrated aliases for Ferro-Cerebro-Cutaneous Syndrome:

Name: Ferro-Cerebro-Cutaneous Syndrome 58
Cerebro-Cutaneous Syndrome with Iron Overload 58

Characteristics:

Orphanet epidemiological data:

58
ferro-cerebro-cutaneous syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases


External Ids:

ICD10 via Orphanet 33 G23.0
Orphanet 58 ORPHA397922

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
4 rare hereditary hemochromatosis 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:

40
Liver

Publications for Ferro-Cerebro-Cutaneous Syndrome

Articles related to Ferro-Cerebro-Cutaneous Syndrome:

# Title Authors PMID Year
1
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. 61
26545172 2016
2
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. 61
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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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