MCID: GNT037
MIFTS: 10

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 59
Benign Hyperferritinemia 59

Characteristics:

Orphanet epidemiological data:

59
genetic hyperferritinemia without iron overload
Inheritance: Autosomal dominant;

Classifications:



External Ids:

Orphanet 59 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 fragile nails

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:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased serum ferritin 59 32 obligate (100%) Obligate (100%) HP:0003281
2 fragile nails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001808
3 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
4 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
5 cataract 59 32 very rare (1%) Very rare (<4-1%) HP:0000518
6 elevated hepatic iron concentration 59 Excluded (0%)
7 abnormal serum iron 59 Excluded (0%)
8 abnormal transferrin saturation 59 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 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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