MCID: HYP801
MIFTS: 39

Hyperferritinemia with or Without Cataract

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Hyperferritinemia with or Without Cataract

MalaCards integrated aliases for Hyperferritinemia with or Without Cataract:

Name: Hyperferritinemia with or Without Cataract 57 75
Hyperferritinemia-Cataract Syndrome 57 25 75 13 55
Hhcs 57 25 59 75
Hyperferritinemia, Hereditary, with Congenital Cataracts 57 75 73
Hyperferritinemia Cataract Syndrome 53 29 6
Bonneau-Beaumont Syndrome 53 25 59
Hereditary Hyperferritinemia with Congenital Cataracts 25 59
Hereditary Hyperferritinemia-Cataract Syndrome 25 59
Hrftc 57 75
Hyperferritinemia, Hereditary, with Congenital Cataracts; Hhcs 57
Hereditary Hyperferritinemia Cataract Syndrome 53
Hyperferritinemia, with/without Cataract 40
Cataract-Hyperferritinemia Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
hereditary hyperferritinemia-cataract syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
cataracts may be subclinical in some patients
age at diagnosis of cataract may range up to 40 years
severity of clinical phenotype varies both within and between kindreds
some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe


HPO:

32
hyperferritinemia with or without cataract:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 600886
Orphanet 59 ORPHA163
UMLS via Orphanet 74 C1833213
ICD10 via Orphanet 34 H26.0
MESH via Orphanet 45 C538137
MedGen 42 C1833213
UMLS 73 C1833213

Summaries for Hyperferritinemia with or Without Cataract

NIH Rare Diseases : 53 Hyperferritinemia cataractsyndrome is a rare condition that is characterized by elevated levels of ferritin (an iron-storing protein) in the blood and early onset cataracts. Without treatment, these cataracts often become progressively worse leading to dimming and blurriness of vision. The severity of the condition can vary significantly from person to person, even among members of the same family. Hyperferritinemia cataract syndrome is caused by changes (mutations) in the FTL gene and is inherited in an autosomal dominant manner. Treatment is generally focused on improving vision and may include glasses, contact lenses and/or cataract surgery.

MalaCards based summary : Hyperferritinemia with or Without Cataract, also known as hyperferritinemia-cataract syndrome, is related to hemochromatosis, type 1 and iron metabolism disease. An important gene associated with Hyperferritinemia with or Without Cataract is FTL (Ferritin Light Chain), and among its related pathways/superpathways are Insulin receptor recycling and Mineral absorption. Affiliated tissues include eye, and related phenotypes are cataract and abnormality of metabolism/homeostasis

UniProtKB/Swiss-Prot : 75 Hyperferritinemia with or without cataract: An autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Cataracts may be subclinical in some patients.

Genetics Home Reference : 25 Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cataracts usually develop in infancy, rather than after age 60 as typically occurs in the general population. Cataracts that are not removed surgically cause progressive dimming and blurriness of vision because the clouded lenses reduce and distort incoming light.

Description from OMIM: 600886

Related Diseases for Hyperferritinemia with or Without Cataract

Diseases related to Hyperferritinemia with or Without Cataract via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 1 29.9 FTL HFE TF
2 iron metabolism disease 29.5 HFE TF
3 iron deficiency anemia 29.4 HFE TF
4 hemosiderosis 28.5 FTL HFE TF
5 deficiency anemia 28.4 FTL HFE TF
6 hypocalciuric hypercalcemia, familial, type i 11.2
7 cataract 10.8
8 iron overload in africa 9.7 HFE TF
9 metal metabolism disorder 9.7 HFE TF
10 siderosis 9.7 HFE TF
11 atransferrinemia 9.6 HFE TF
12 inherited metabolic disorder 9.6 HFE TF
13 porphyria cutanea tarda 9.6 HFE TF
14 wilson disease 9.6 HFE TF
15 porphyria 9.5 HFE TF
16 thalassemia 9.5 HFE TF
17 beta-thalassemia 9.4 HFE TF
18 liver cirrhosis 9.3 HFE TF
19 liver disease 9.2 HFE TF
20 aceruloplasminemia 9.0 FTL HFE TF
21 myelodysplastic syndrome 9.0 HFE TF

Graphical network of the top 20 diseases related to Hyperferritinemia with or Without Cataract:



Diseases related to Hyperferritinemia with or Without Cataract

Symptoms & Phenotypes for Hyperferritinemia with or Without Cataract

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
congenital nuclear cataract (in some patients)
pulverulent cataract (in some patients)
'sunflower' cataract (in some patients)

Laboratory Abnormalities:
elevated serum ferritin
normal serum iron
normal transferrin saturation
normal red cell counts
elevated ferritin l subunit
more

Clinical features from OMIM:

600886

Human phenotypes related to Hyperferritinemia with or Without Cataract:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
2 abnormality of metabolism/homeostasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001939
3 increased serum ferritin 32 HP:0003281
4 congenital nuclear cataract 32 HP:0008024
5 pulverulent cataract 32 occasional (7.5%) HP:0010693

GenomeRNAi Phenotypes related to Hyperferritinemia with or Without Cataract according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased number of mitotic cells GR00098-A-3 8.62 FTL TF

Drugs & Therapeutics for Hyperferritinemia with or Without Cataract

Search Clinical Trials , NIH Clinical Center for Hyperferritinemia with or Without Cataract

Genetic Tests for Hyperferritinemia with or Without Cataract

Genetic tests related to Hyperferritinemia with or Without Cataract:

# Genetic test Affiliating Genes
1 Hyperferritinemia Cataract Syndrome 29 FTL

Anatomical Context for Hyperferritinemia with or Without Cataract

MalaCards organs/tissues related to Hyperferritinemia with or Without Cataract:

41
Eye

Publications for Hyperferritinemia with or Without Cataract

Articles related to Hyperferritinemia with or Without Cataract:

(show top 50) (show all 54)
# Title Authors Year
1
Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome. ( 28746593 )
2017
2
Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome. ( 27096259 )
2016
3
Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family. ( 26849797 )
2016
4
Aqueous humor ferritin in hereditary hyperferritinemia cataract syndrome. ( 25756341 )
2015
5
[New mutation in a Spanish family with hereditary hyperferritinemia-cataract syndrome]. ( 24022025 )
2014
6
Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia. ( 24983587 )
2014
7
A new family with hereditary hyperferritinemia cataract syndrome. ( 24551982 )
2013
8
Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene. ( 22881709 )
2013
9
The hereditary hyperferritinemia-cataract syndrome in 2 italian families. ( 24368960 )
2013
10
Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype. ( 23300176 )
2013
11
Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload. ( 24003015 )
2013
12
Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family. ( 21210779 )
2011
13
Hereditary hyperferritinemia-cataract syndrome (HHCS) presenting with iron deficiency anemia associated with a new mutation in the iron responsive element of the L ferritin gene in a Swiss family. ( 21410535 )
2011
14
Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families. ( 22020773 )
2011
15
Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families. ( 21907119 )
2011
16
The hereditary hyperferritinemia-cataract syndrome: a family study. ( 20617342 )
2010
17
A case report of spontaneous mutation (C33&amp;gt;U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome. ( 19800271 )
2010
18
[Hereditary hyperferritinemia cataract syndrome--the first family in Germany]. ( 19994473 )
2009
19
The case of a 1-year-old girl with hereditary hyperferritinemia cataract syndrome. ( 19382035 )
2009
20
Identification of a novel mutation in the L ferritin iron-responsive element causing hereditary hyperferritinemia-cataract syndrome. ( 19887780 )
2009
21
A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site. ( 17579362 )
2007
22
[Hereditary hyperferritinemia cataracts syndrome in a Spanish family caused by the A40G mutation (Paris) in the L-ferritin (FTL) gene associated with the mutation H63D in the HFE gene]. ( 17927936 )
2007
23
Hereditary hyperferritinemia-cataract syndrome. ( 17572344 )
2007
24
Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings. ( 16496261 )
2006
25
Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 &amp;gt; G mutation of L-ferritin IRE. ( 16406710 )
2006
26
[Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: &amp;quot;Zaragoza&amp;quot;)]. ( 16900584 )
2006
27
Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism. ( 16395671 )
2006
28
Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome. ( 15690351 )
2005
29
A point mutation in the iron-responsive element of the L-ferritin in a family with hereditary hyperferritinemia cataract syndrome. ( 15861269 )
2005
30
Hereditary hyperferritinemia-cataract syndrome. Study of a new family in Spain. ( 15283633 )
2004
31
Hereditary hyperferritinemia-cataract syndrome: a novel mutation in the iron-responsive element of the L-ferritin gene in a French family. ( 15234655 )
2004
32
Gene symbol: FTL. Disease: Hyperferritinemia-cataract syndrome. ( 15046083 )
2004
33
Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations. ( 14662596 )
2003
34
Prevalence of hereditary hyperferritinemia-cataract syndrome in blood donors and patients with cataract. ( 12604412 )
2003
35
Pathogenesis of hyperferritinemia cataract syndrome. ( 12547247 )
2002
36
Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome. ( 11923255 )
2002
37
Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family. ( 11308047 )
2001
38
Lens changes in hereditary hyperferritinemia-cataract syndrome. ( 11704046 )
2001
39
Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: identification of the new mutation C14G. ( 11238302 )
2001
40
Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene. ( 10366804 )
1999
41
Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome. ( 10473603 )
1999
42
Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome. ( 10366790 )
1999
43
Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family. ( 10383191 )
1999
44
A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome. ( 9414300 )
1998
45
Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element. ( 9414313 )
1998
46
Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome. ( 9596665 )
1998
47
Coinheritance of alleles associated with hemochromatosis and hereditary hyperferritinemia-cataract syndrome. ( 9882097 )
1998
48
[&amp;quot;Hyperferritinemia-cataract syndrome.&amp;quot; Description of a new hereditary disease, from anamnesis to molecular diagnosis]. ( 9417535 )
1997
49
[Hereditary hyperferritinemia-cataract syndrome]. ( 9162623 )
1997
50
Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA. ( 9226182 )
1997

Variations for Hyperferritinemia with or Without Cataract

UniProtKB/Swiss-Prot genetic disease variations for Hyperferritinemia with or Without Cataract:

75
# Symbol AA change Variation ID SNP ID
1 FTL p.Thr30Ile VAR_070948 rs397514540

ClinVar genetic disease variations for Hyperferritinemia with or Without Cataract:

6
(show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 FTL NM_000146.3(FTL): c.-160A> G single nucleotide variant Pathogenic rs398124633 GRCh37 Chromosome 19, 49468605: 49468605
2 FTL NM_000146.3(FTL): c.-160A> G single nucleotide variant Pathogenic rs398124633 GRCh38 Chromosome 19, 48965348: 48965348
3 FTL NM_000146.3(FTL): c.-159G> C single nucleotide variant Pathogenic rs398124634 GRCh37 Chromosome 19, 49468606: 49468606
4 FTL NM_000146.3(FTL): c.-159G> C single nucleotide variant Pathogenic rs398124634 GRCh38 Chromosome 19, 48965349: 48965349
5 FTL NM_000146.3(FTL): c.-168G> A single nucleotide variant Pathogenic rs398124635 GRCh37 Chromosome 19, 49468597: 49468597
6 FTL NM_000146.3(FTL): c.-168G> A single nucleotide variant Pathogenic rs398124635 GRCh38 Chromosome 19, 48965340: 48965340
7 FTL NM_000146.3(FTL): c.-190_-162del29 deletion Pathogenic GRCh37 Chromosome 19, 49468575: 49468603
8 FTL NM_000146.3(FTL): c.-190_-162del29 deletion Pathogenic GRCh38 Chromosome 19, 48965318: 48965346
9 FTL NM_000146.3(FTL): c.-168G> T single nucleotide variant Pathogenic rs398124635 GRCh37 Chromosome 19, 49468597: 49468597
10 FTL NM_000146.3(FTL): c.-168G> T single nucleotide variant Pathogenic rs398124635 GRCh38 Chromosome 19, 48965340: 48965340
11 FTL NM_000146.3(FTL): c.-161C> T single nucleotide variant Pathogenic rs398124636 GRCh37 Chromosome 19, 49468604: 49468604
12 FTL NM_000146.3(FTL): c.-161C> T single nucleotide variant Pathogenic rs398124636 GRCh38 Chromosome 19, 48965347: 48965347
13 FTL NM_000146.3(FTL): c.-164C> A single nucleotide variant Pathogenic rs398124637 GRCh37 Chromosome 19, 49468601: 49468601
14 FTL NM_000146.3(FTL): c.-164C> A single nucleotide variant Pathogenic rs398124637 GRCh38 Chromosome 19, 48965344: 48965344
15 FTL NM_000146.3(FTL): c.-149G> C single nucleotide variant Pathogenic rs398124638 GRCh37 Chromosome 19, 49468616: 49468616
16 FTL NM_000146.3(FTL): c.-149G> C single nucleotide variant Pathogenic rs398124638 GRCh38 Chromosome 19, 48965359: 48965359
17 FTL NM_000146.3(FTL): c.-178_-173delTCTGTC deletion Pathogenic rs398124639 GRCh37 Chromosome 19, 49468587: 49468592
18 FTL NM_000146.3(FTL): c.-178_-173delTCTGTC deletion Pathogenic rs398124639 GRCh38 Chromosome 19, 48965330: 48965335
19 FTL NM_000146.3(FTL): c.-168G> C single nucleotide variant Pathogenic rs398124635 GRCh37 Chromosome 19, 49468597: 49468597
20 FTL NM_000146.3(FTL): c.-168G> C single nucleotide variant Pathogenic rs398124635 GRCh38 Chromosome 19, 48965340: 48965340
21 FTL NM_000146.3(FTL): c.89C> T (p.Thr30Ile) single nucleotide variant Pathogenic rs397514540 GRCh37 Chromosome 19, 49468853: 49468853
22 FTL NM_000146.3(FTL): c.89C> T (p.Thr30Ile) single nucleotide variant Pathogenic rs397514540 GRCh38 Chromosome 19, 48965596: 48965596
23 FTL NM_000146.3(FTL): c.-164C> T single nucleotide variant Pathogenic rs398124637 GRCh37 Chromosome 19, 49468601: 49468601
24 FTL NM_000146.3(FTL): c.-164C> T single nucleotide variant Pathogenic rs398124637 GRCh38 Chromosome 19, 48965344: 48965344
25 FTL NM_000146.3(FTL): c.169G> A (p.Glu57Lys) single nucleotide variant Uncertain significance rs201241191 GRCh38 Chromosome 19, 48965836: 48965836
26 FTL NM_000146.3(FTL): c.169G> A (p.Glu57Lys) single nucleotide variant Uncertain significance rs201241191 GRCh37 Chromosome 19, 49469093: 49469093
27 FTL; GYS1 NM_000146.3(FTL): c.163T> C (p.Leu55=) single nucleotide variant Benign rs2230267 GRCh38 Chromosome 19, 48965830: 48965830
28 FTL; GYS1 NM_000146.3(FTL): c.163T> C (p.Leu55=) single nucleotide variant Benign rs2230267 GRCh37 Chromosome 19, 49469087: 49469087
29 FTL NM_000146.3(FTL): c.*8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373178636 GRCh37 Chromosome 19, 49470000: 49470000
30 FTL NM_000146.3(FTL): c.*8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373178636 GRCh38 Chromosome 19, 48966743: 48966743
31 FTL NM_000146.3(FTL): c.-178T> G single nucleotide variant no interpretation for the single variant rs886037623 GRCh38 Chromosome 19, 48965330: 48965330
32 FTL NM_000146.3(FTL): c.-178T> G single nucleotide variant no interpretation for the single variant rs886037623 GRCh37 Chromosome 19, 49468587: 49468587
33 FTL NM_000146.3(FTL): c.-46C> A single nucleotide variant Uncertain significance rs768457741 GRCh38 Chromosome 19, 48965462: 48965462
34 FTL NM_000146.3(FTL): c.-46C> A single nucleotide variant Uncertain significance rs768457741 GRCh37 Chromosome 19, 49468719: 49468719
35 FTL; GYS1 NM_002103.4(GYS1): c.*659C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367578611 GRCh37 Chromosome 19, 49471886: 49471886
36 FTL; GYS1 NM_002103.4(GYS1): c.*659C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367578611 GRCh38 Chromosome 19, 48968629: 48968629
37 FTL; GYS1 NM_002103.4(GYS1): c.*450G> A single nucleotide variant Likely benign rs3745693 GRCh37 Chromosome 19, 49472095: 49472095
38 FTL; GYS1 NM_002103.4(GYS1): c.*450G> A single nucleotide variant Likely benign rs3745693 GRCh38 Chromosome 19, 48968838: 48968838
39 FTL; GYS1 NM_002103.4(GYS1): c.1848C> T (p.Ala616=) single nucleotide variant Conflicting interpretations of pathogenicity rs145789213 GRCh37 Chromosome 19, 49473074: 49473074
40 FTL; GYS1 NM_002103.4(GYS1): c.1848C> T (p.Ala616=) single nucleotide variant Conflicting interpretations of pathogenicity rs145789213 GRCh38 Chromosome 19, 48969817: 48969817
41 FTL; GYS1 NM_002103.4(GYS1): c.1615G> A (p.Glu539Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs561646250 GRCh37 Chromosome 19, 49474215: 49474215
42 FTL; GYS1 NM_002103.4(GYS1): c.1615G> A (p.Glu539Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs561646250 GRCh38 Chromosome 19, 48970958: 48970958
43 FTL; GYS1 NM_002103.4(GYS1): c.*841A> G single nucleotide variant Likely benign rs75797604 GRCh38 Chromosome 19, 48968447: 48968447
44 FTL; GYS1 NM_002103.4(GYS1): c.*841A> G single nucleotide variant Likely benign rs75797604 GRCh37 Chromosome 19, 49471704: 49471704
45 FTL; GYS1 NM_002103.4(GYS1): c.2207G> A (p.Arg736His) single nucleotide variant Conflicting interpretations of pathogenicity rs367919986 GRCh37 Chromosome 19, 49472552: 49472552
46 FTL; GYS1 NM_002103.4(GYS1): c.2207G> A (p.Arg736His) single nucleotide variant Conflicting interpretations of pathogenicity rs367919986 GRCh38 Chromosome 19, 48969295: 48969295
47 FTL; GYS1 NM_002103.4(GYS1): c.2013C> T (p.Asp671=) single nucleotide variant Conflicting interpretations of pathogenicity rs5452 GRCh37 Chromosome 19, 49472746: 49472746
48 FTL; GYS1 NM_002103.4(GYS1): c.2013C> T (p.Asp671=) single nucleotide variant Conflicting interpretations of pathogenicity rs5452 GRCh38 Chromosome 19, 48969489: 48969489
49 FTL; GYS1 NM_002103.4(GYS1): c.1926G> A (p.Val642=) single nucleotide variant Benign/Likely benign rs5451 GRCh37 Chromosome 19, 49472833: 49472833
50 FTL; GYS1 NM_002103.4(GYS1): c.1926G> A (p.Val642=) single nucleotide variant Benign/Likely benign rs5451 GRCh38 Chromosome 19, 48969576: 48969576

Expression for Hyperferritinemia with or Without Cataract

Search GEO for disease gene expression data for Hyperferritinemia with or Without Cataract.

Pathways for Hyperferritinemia with or Without Cataract

Pathways related to Hyperferritinemia with or Without Cataract according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.6 FTL TF
2 10.66 FTL TF
3 10.23 FTL TF

GO Terms for Hyperferritinemia with or Without Cataract

Cellular components related to Hyperferritinemia with or Without Cataract according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.26 HFE TF
2 recycling endosome GO:0055037 9.16 HFE TF
3 basal part of cell GO:0045178 8.96 HFE TF
4 HFE-transferrin receptor complex GO:1990712 8.62 HFE TF

Biological processes related to Hyperferritinemia with or Without Cataract according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferrin transport GO:0033572 9.4 HFE TF
2 positive regulation of receptor-mediated endocytosis GO:0048260 9.37 HFE TF
3 iron ion transport GO:0006826 9.32 FTL TF
4 cellular response to iron ion GO:0071281 9.26 HFE TF
5 regulation of iron ion import GO:1900390 9.16 HFE TF
6 cellular iron ion homeostasis GO:0006879 9.13 FTL HFE TF
7 iron ion homeostasis GO:0055072 8.8 FTL HFE TF

Molecular functions related to Hyperferritinemia with or Without Cataract according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ferric iron binding GO:0008199 8.96 FTL TF
2 transferrin receptor binding GO:1990459 8.62 HFE TF

Sources for Hyperferritinemia with or Without Cataract

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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