Genetic Hyperferritinemia Without Iron Overload disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

Orphanet ⁵⁸ ORPHA254704

SNOMED-CT via HPO ⁶⁸ 128306009 193570009 247053007 more

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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 circulating ferritin concentration and fatigue

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Related Diseases for Genetic Hyperferritinemia Without Iron Overload

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Symptoms & Phenotypes for Genetic Hyperferritinemia Without Iron Overload

Human phenotypes related to Genetic Hyperferritinemia Without Iron Overload:

³¹ ⁵⁸ (show all 9)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	increased circulating ferritin concentration ³¹	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	increased serum ferritin ⁵⁸		Obligate (100%)
7	elevated hepatic iron concentration ⁵⁸		Excluded (0%)
8	abnormal serum iron ⁵⁸		Excluded (0%)
9	abnormal transferrin saturation ⁵⁸		Excluded (0%)

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Drugs & Therapeutics for Genetic Hyperferritinemia Without Iron Overload

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

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Genetic Tests for Genetic Hyperferritinemia Without Iron Overload

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Anatomical Context for Genetic Hyperferritinemia Without Iron Overload

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Publications for Genetic Hyperferritinemia Without Iron Overload

Articles related to Genetic Hyperferritinemia Without Iron Overload:

#	Title	Authors	PMID	Year
1	L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases. ⁶¹	Cadenas B...Sanchez M	30678075	2019
2	Unexplained isolated hyperferritinemia without iron overload. ⁶¹	Ravasi G...Piperno A	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	Kannengiesser C...Beaumont C	19176363	2009

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Genes for Genetic Hyperferritinemia Without Iron Overload

Genes related to Genetic Hyperferritinemia Without Iron Overload (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FTL	Ferritin Light Chain	Protein Coding	350	Causative germline mutation ⁵⁸	19176363

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Variations for Genetic Hyperferritinemia Without Iron Overload

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Expression for Genetic Hyperferritinemia Without Iron Overload

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

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Pathways for Genetic Hyperferritinemia Without Iron Overload

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GO Terms for Genetic Hyperferritinemia Without Iron Overload

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