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 ⁵⁹

Benign Hyperferritinemia ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

genetic hyperferritinemia without iron overload
Inheritance: Autosomal dominant;

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

Orphanet ⁵⁹ ORPHA254704

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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 serum ferritin 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:

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	fatigue ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0012378
3	arthralgia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002829
4	fragile nails ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001808
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%)

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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. ³⁸	Cadenas B...Sanchez M	30678075	2019
2	Unexplained isolated hyperferritinemia without iron overload. ³⁸	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. ³⁸	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	PubmedIds
1	FTL	Ferritin Light Chain	Protein Coding	350	Causative germline mutation ⁵⁹

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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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