MCID: GNT037
MIFTS: 9

Genetic Hyperferritinemia Without Iron Overload

Categories: Rare diseases

Aliases & Classifications for Genetic Hyperferritinemia Without Iron Overload

MalaCards integrated aliases for Genetic Hyperferritinemia Without Iron Overload:

Name: Genetic Hyperferritinemia Without Iron Overload 60
Benign Hyperferritinemia 60

Characteristics:

Orphanet epidemiological data:

60
genetic hyperferritinemia without iron overload
Inheritance: Autosomal dominant;

Classifications:



External Ids:

Orphanet 60 ORPHA254704

Summaries for Genetic Hyperferritinemia Without Iron Overload

MalaCards based summary : Genetic Hyperferritinemia Without Iron Overload, is also known as benign hyperferritinemia. An important gene associated with Genetic Hyperferritinemia Without Iron Overload is FTL (Ferritin Light Chain). Related phenotypes are increased serum ferritin and fatigue

Related Diseases for Genetic Hyperferritinemia Without Iron Overload

Symptoms & Phenotypes for Genetic Hyperferritinemia Without Iron Overload

Human phenotypes related to Genetic Hyperferritinemia Without Iron Overload:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased serum ferritin 60 33 obligate (100%) Obligate (100%) HP:0003281
2 fatigue 60 33 occasional (7.5%) Occasional (29-5%) HP:0012378
3 arthralgia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002829
4 fragile nails 60 33 occasional (7.5%) Occasional (29-5%) HP:0001808
5 cataract 60 33 very rare (1%) Very rare (<4-1%) HP:0000518
6 elevated hepatic iron concentration 60 Excluded (0%)
7 abnormal serum iron 60 Excluded (0%)
8 abnormal transferrin saturation 60 Excluded (0%)

Drugs & Therapeutics for Genetic Hyperferritinemia Without Iron Overload

Search Clinical Trials , NIH Clinical Center for Genetic Hyperferritinemia Without Iron Overload

Genetic Tests for Genetic Hyperferritinemia Without Iron Overload

Anatomical Context for Genetic Hyperferritinemia Without Iron Overload

Publications for Genetic Hyperferritinemia Without Iron Overload

Variations for Genetic Hyperferritinemia Without Iron Overload

Expression for Genetic Hyperferritinemia Without Iron Overload

Search GEO for disease gene expression data for Genetic Hyperferritinemia Without Iron Overload.

Pathways for Genetic Hyperferritinemia Without Iron Overload

GO Terms for Genetic Hyperferritinemia Without Iron Overload

Sources for Genetic Hyperferritinemia Without Iron Overload

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....