MCID: GNT037
MIFTS: 11

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 58
Benign Hyperferritinemia 58

Characteristics:

Orphanet epidemiological data:

58
genetic hyperferritinemia without iron overload
Inheritance: Autosomal dominant;

Classifications:



External Ids:

Orphanet 58 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:

58 31 (showing 8, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased serum ferritin 58 31 obligate (100%) Obligate (100%) HP:0003281
2 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
3 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
4 fragile nails 58 31 occasional (7.5%) Occasional (29-5%) HP:0001808
5 cataract 58 31 very rare (1%) Very rare (<4-1%) HP:0000518
6 elevated hepatic iron concentration 58 Excluded (0%)
7 abnormal serum iron 58 Excluded (0%)
8 abnormal transferrin saturation 58 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

Articles related to Genetic Hyperferritinemia Without Iron Overload:

(showing 3, show less)
# Title Authors PMID Year
1
L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases. 61
30678075 2019
2
Unexplained isolated hyperferritinemia without iron overload. 61
28052375 2017
3
A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload. 61
19176363 2009

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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