HRFTC
MCID: HYP801
MIFTS: 51

Hyperferritinemia with or Without Cataract (HRFTC)

Categories: Eye diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Hyperferritinemia with or Without Cataract

MalaCards integrated aliases for Hyperferritinemia with or Without Cataract:

Name: Hyperferritinemia with or Without Cataract 57 11 73
Hyperferritinemia-Cataract Syndrome 57 11 42 73 12 53 14 38 75
Hereditary Hyperferritinemia with Congenital Cataracts 11 42 58 28 5
Hhcs 57 11 42 58 73
Hyperferritinemia, Hereditary, with Congenital Cataracts 57 73 43 71
Bonneau-Beaumont Syndrome 11 19 42 58
Hereditary Hyperferritinemia-Cataract Syndrome 11 42 58
Hrftc 57 11 73
Cataract-Hyperferritinemia Syndrome 11 19
Hereditary Hyperferritinemia Cataract Syndrome 19
Hyperferritinemia Cataract Syndrome 19

Characteristics:


Inheritance:

Hyperferritinemia with or Without Cataract: Autosomal dominant 57
Hereditary Hyperferritinemia-Cataract Syndrome: Autosomal dominant 58

Prevelance:

Hereditary Hyperferritinemia-Cataract Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Hereditary Hyperferritinemia-Cataract Syndrome: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:0111256
OMIM® 57 600886
SNOMED-CT 68 702398007
MESH via Orphanet 44 C538137
ICD10 via Orphanet 32 H26.0
UMLS via Orphanet 72 C1833213
Orphanet 58 ORPHA163
MedGen 40 C1833213
UMLS 71 C1833213

Summaries for Hyperferritinemia with or Without Cataract

MedlinePlus Genetics: 42 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.Although the hyperferritinemia in this disorder does not usually cause any health problems other than cataracts, the elevated ferritin levels in the blood can be mistaken for a sign of certain liver disorders. These conditions result in excess iron in the body and may be treated by blood-drawing. However, individuals with hyperferritinemia-cataract syndrome do not have an excess of iron, and with repeated blood draws will develop reduced iron levels leading to a low number of red blood cells (anemia). Therefore, correct diagnosis of hyperferritinemia-cataract syndrome is important to avoid unnecessary treatments or invasive test procedures such as liver biopsies.

MalaCards based summary: Hyperferritinemia with or Without Cataract, also known as hyperferritinemia-cataract syndrome, is related to cataract and neurodegeneration with brain iron accumulation 3. An important gene associated with Hyperferritinemia with or Without Cataract is FTL (Ferritin Light Chain), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Glucose / Energy Metabolism. Affiliated tissues include eye, liver and myeloid, and related phenotypes are cataract and abnormality of metabolism/homeostasis

Disease Ontology: 11 A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has material basis in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33.

Orphanet: 58 Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

GARD: 19 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 in the FTL gene and is inherited in an autosomal dominant manner.

UniProtKB/Swiss-Prot: 73 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.

More information 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 top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 cataract 30.7 TF IREB2 HFE GCNT2 FTL ACO1
2 neurodegeneration with brain iron accumulation 3 30.2 SLC11A2 IREB2 FTL FTH1 ACO1
3 iron metabolism disease 29.3 TFR2 TF SLC40A1 SLC11A2 IREB2 HJV
4 hemochromatosis, type 4 29.1 TFR2 SLC40A1 SLC11A2 HJV HFE HAMP
5 iron deficiency anemia 28.9 TFR2 TF SLC40A1 SLC11A2 IREB2 HJV
6 hemochromatosis, type 1 28.9 TFR2 TF SLC40A1 SLC11A2 IREB2 HJV
7 anemia, sideroblastic, 1 28.6 TFR2 SLC40A1 SLC11A2 IREB2 HJV HFE
8 iron overload 28.6 TFR2 TF SLC40A1 SLC11A2 HJV HFE
9 deficiency anemia 28.5 TFR2 TF SLC40A1 SLC11A2 IREB2 HJV
10 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
11 hfe hemochromatosis 10.2 TF HFE
12 macrophage activation syndrome 10.1 FTL FTH1
13 hemophagocytic lymphohistiocytosis, familial, 1 10.0
14 toe syndactyly, telecanthus, and anogenital and renal malformations 10.0
15 astigmatism 10.0
16 post-thrombotic syndrome 10.0
17 renal dysplasia 10.0
18 friedreich ataxia 2 10.0 FTL FTHL17
19 anemia, sideroblastic, and spinocerebellar ataxia 10.0 ALAS2 ACO1
20 protoporphyria, erythropoietic, 1 10.0 IREB2 ALAS2 ACO1
21 coproporphyria, hereditary 10.0 HFE ALAS2
22 spastic paraplegia 38, autosomal dominant 10.0 IREB2 FTL FTH1 ACO1
23 alpha-1-antitrypsin deficiency 10.0 IREB2 HFE HAMP
24 cutaneous porphyria 9.9 HFE HAMP ALAS2
25 autosomal dominant beta thalassemia 9.9 TFR2 HJV HFE HAMP
26 arthropathy 9.9 HJV HFE HAMP FTL
27 hereditary spherocytosis 9.9 HFE HAMP ALAS2
28 beta-thalassemia intermedia 9.9 TFR2 HJV HFE HAMP
29 hemochromatosis, type 5 9.8 TFR2 HJV HFE FTL FTH1
30 erythrocytosis, familial, 2 9.8 SLC11A2 HAMP ACO1
31 siderosis 9.8 TF SLC40A1 HFE HAMP FTH1
32 neurodegeneration with brain iron accumulation 1 9.8 SLC11A2 FTL
33 hemochromatosis, type 2b 9.8 TFR2 HJV HFE HAMP FTL
34 acute porphyria 9.7 IREB2 HFE HAMP ALAS2 ACO1
35 nutritional deficiency disease 9.7 TF SLC11A2 HJV HAMP
36 hemoglobinopathy 9.7 TFR2 TF HFE HAMP ALAS2
37 thalassemia 9.6 TFR2 TF SLC40A1 HJV HFE HAMP
38 porphyria 9.6 TFR2 SLC40A1 HJV HFE HAMP ALAS2
39 beta-thalassemia major 9.5 TFR2 SLC40A1 SLC11A2 HJV HFE HAMP
40 hemosiderosis 9.4 TFR2 TF SLC40A1 SLC11A2 HJV HFE
41 iron overload in africa 9.4 TFR2 TF SLC40A1 SLC11A2 HJV HFE
42 friedreich ataxia 9.4 IREB2 HFE FTMT FTL FTHL17 FTH1
43 hemochromatosis, type 3 9.4 TFR2 SLC40A1 SLC11A2 HJV HFE HAMP
44 hypochromic microcytic anemia 9.3 TF SLC40A1 SLC11A2 HJV HAMP ALAS2
45 porphyria cutanea tarda 9.3 TFR2 TF SLC40A1 HJV HFE HAMP
46 restless legs syndrome 9.3 SLC11A2 IREB2 HAMP FTMT FTL FTH1
47 beta-thalassemia 9.3 TFR2 TF IREB2 HJV HFE HAMP
48 atransferrinemia 9.2 TFR2 TF SLC40A1 SLC11A2 HJV HFE
49 sideroblastic anemia 9.2 TFR2 SLC40A1 HJV HFE HAMP FTMT
50 neurodegeneration with brain iron accumulation 9.1 TFR2 SLC40A1 SLC11A2 IREB2 HFE HAMP

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

Human phenotypes related to Hyperferritinemia with or Without Cataract:

58 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000518
2 abnormality of metabolism/homeostasis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001939
3 pulverulent cataract 30 Occasional (7.5%) HP:0010693
4 increased circulating ferritin concentration 30 Very rare (1%) HP:0003281
5 nuclear cataract 30 HP:0100018

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Hyperferritinemia with or Without Cataract:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 ACO1 ALAS2 FTH1 FTL GCNT2 HAMP
2 liver/biliary system MP:0005370 9.91 FTH1 FTL HAMP HFE HJV IREB2
3 immune system MP:0005387 9.65 FTH1 FTL GCNT2 HAMP HFE HJV
4 hematopoietic system MP:0005397 9.44 ACO1 ALAS2 FTH1 FTL GCNT2 HAMP

Drugs & Therapeutics for Hyperferritinemia with or Without Cataract

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

Cochrane evidence based reviews: hyperferritinemia, hereditary, with congenital cataracts

Genetic Tests for Hyperferritinemia with or Without Cataract

Genetic tests related to Hyperferritinemia with or Without Cataract:

# Genetic test Affiliating Genes
1 Hereditary Hyperferritinemia with Congenital Cataracts 28 FTL

Anatomical Context for Hyperferritinemia with or Without Cataract

Organs/tissues related to Hyperferritinemia with or Without Cataract:

MalaCards : Eye, Liver, Myeloid, Whole Blood, Salivary Gland, T Cells, Nk Cells

Publications for Hyperferritinemia with or Without Cataract

Articles related to Hyperferritinemia with or Without Cataract:

(show top 50) (show all 275)
# Title Authors PMID Year
1
Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype. 62 57 5
23300176 2013
2
Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome. 62 57 5
23421845 2013
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. 62 57 5
19176363 2009
4
Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations. 62 57 5
12199804 2002
5
Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome. 62 57 5
11703332 2001
6
Onset of cataract in early infancy associated with a 32G-->C transition in the iron responsive element of L-ferritin. 57 5
12200611 2002
7
A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins. 57 5
10759702 2000
8
Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. 57 5
7493028 1995
9
A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract. 57 5
7669675 1995
10
Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome. 53 62 5
10366790 1999
11
Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G 62 5
30401656 2019
12
Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family. 62 5
26849797 2016
13
Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract. 62 5
23592921 2013
14
Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families. 62 5
21907119 2011
15
Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome. 62 57
15280904 2004
16
Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations. 62 5
14662596 2003
17
A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome. 62 5
11849230 2002
18
Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene. 62 5
10366804 1999
19
Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element. 62 5
9414313 1998
20
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. 62 5
9414300 1998
21
Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene. 62 5
9292547 1997
22
Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA. 62 5
9226182 1997
23
A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome. 62 5
8781450 1996
24
Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation") 62 5
7492760 1995
25
Sequence analysis of exon 1 of the ferritin light chain (FTL) gene can reveal the rare disorder 'hereditary hyperferritinaemia without cataracts'. 5
29797321 2019
26
Hereditary hyperferritinaemia cataract syndrome. 5
24766965 2014
27
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms. 57
15173247 2004
28
Bilateral cataract and high serum ferritin: a new dominant genetic disorder? 57
8558554 1995
29
The interaction between the iron-responsive element binding protein and its cognate RNA is highly dependent upon both RNA sequence and structure. 5
8233801 1993
30
A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome. 53 62
19800271 2010
31
[Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")]. 53 62
16900584 2006
32
Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IRE. 53 62
16406710 2006
33
Post-transcriptional control via iron-responsive elements: the impact of aberrations in hereditary disease. 53 62
10592329 1999
34
Classification and diagnosis of iron overload. 53 62
9658731 1998
35
Hexahydrocannabinol on the Light Cannabis Market: The Latest "New" Entry. 62
36445181 2022
36
Safe and effective off-the-shelf immunotherapy based on CAR.CD123-NK cells for the treatment of acute myeloid leukaemia. 62
36335396 2022
37
Changing patterns of household transmission of tuberculosis in an eastern state of India: The impact of COVID19 pandemic. 62
36460408 2022
38
Caregiver willingness to give TPT to children living with drug-resistant TB patients. 62
36163664 2022
39
Nutritional Supplementation Would Be Cost-Effective for Reducing Tuberculosis Incidence and Mortality in India: The Ration Optimization to Impede Tuberculosis (ROTI-TB) Model. 62
34910141 2022
40
Tuberculosis (TB) Aftermath: study protocol for a hybrid type I effectiveness-implementation non-inferiority randomized trial in India comparing two active case finding (ACF) strategies among individuals treated for TB and their household contacts. 62
35932062 2022
41
Oral health and oral health-related quality of life among older adults receiving home health care services: A scoping review. 62
35943193 2022
42
The Impact of Diabetes and Prediabetes on Prevalence of Mycobacterium tuberculosis Infection Among Household Contacts of Active Tuberculosis Cases in Ethiopia. 62
36420425 2022
43
Early risk assessment in paediatric and adult household contacts of confirmed tuberculosis cases by novel diagnostic tests (ERASE-TB): protocol for a prospective, non-interventional, longitudinal, multicountry cohort study. 62
36427173 2022
44
Higher native Peruvian genetic ancestry proportion is associated with tuberculosis progression risk. 62
35873671 2022
45
Scaling up target regimens for tuberculosis preventive treatment in Brazil and South Africa: An analysis of costs and cost-effectiveness. 62
35696431 2022
46
Risk-adjusted active tuberculosis case finding strategy in central Ethiopia. 62
35755475 2022
47
Sustained effect of isoniazid preventive therapy among household contacts in Brazil. 62
35505475 2022
48
High Prevalence of Tuberculosis Infection and Disease in Child Household Contacts of Adults With Rifampin-resistant Tuberculosis. 62
35239624 2022
49
Barriers and facilitators to asking adults with hearing loss about their emotional and psychological well-being: a COM-B analysis. 62
35436178 2022
50
Latent Tuberculosis Infection Diagnosis among Household Contacts in a High Tuberculosis-Burden Area: a Comparison between Transcript Signature and Interferon Gamma Release Assay. 62
35416716 2022

Variations for Hyperferritinemia with or Without Cataract

ClinVar genetic disease variations for Hyperferritinemia with or Without Cataract:

5 (show top 50) (show all 107)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FTL NM_000146.4(FTL):c.-159G>C SNV Pathogenic
16475 rs398124634 GRCh37: 19:49468606-49468606
GRCh38: 19:48965349-48965349
2 FTL NM_000146.4(FTL):c.-182C>T SNV Pathogenic
441527 rs886037622 GRCh37: 19:49468583-49468583
GRCh38: 19:48965326-48965326
3 FTL NM_000146.4(FTL):c.-189_-161del DEL Pathogenic
16478 rs1555796939 GRCh37: 19:49468575-49468603
GRCh38: 19:48965318-48965346
4 FTL NM_000146.4(FTL):c.-149G>C SNV Pathogenic
16482 rs398124638 GRCh37: 19:49468616-49468616
GRCh38: 19:48965359-48965359
5 FTL NM_000146.4(FTL):c.-175_-170del DEL Pathogenic
16484 rs398124639 GRCh37: 19:49468587-49468592
GRCh38: 19:48965330-48965335
6 FTL NM_000146.4(FTL):c.-168G>C SNV Pathogenic
16485 rs398124635 GRCh37: 19:49468597-49468597
GRCh38: 19:48965340-48965340
7 FTL NM_000146.4(FTL):c.-164C>T SNV Pathogenic
96691 rs398124637 GRCh37: 19:49468601-49468601
GRCh38: 19:48965344-48965344
8 FTL NM_000146.4(FTL):c.-161C>G SNV Pathogenic
1321316 GRCh37: 19:49468604-49468604
GRCh38: 19:48965347-48965347
9 FTL NM_000146.4(FTL):c.-161C>T SNV Pathogenic
Pathogenic
16480 rs398124636 GRCh37: 19:49468604-49468604
GRCh38: 19:48965347-48965347
10 FTL NM_000146.4(FTL):c.-168G>A SNV Pathogenic
Pathogenic
16476 rs398124635 GRCh37: 19:49468597-49468597
GRCh38: 19:48965340-48965340
11 FTL NM_000146.4(FTL):c.-164C>A SNV Pathogenic
Pathogenic
16481 rs398124637 GRCh37: 19:49468601-49468601
GRCh38: 19:48965344-48965344
12 FTL NM_000146.4(FTL):c.-157G>A SNV Pathogenic
647521 rs1600120873 GRCh37: 19:49468608-49468608
GRCh38: 19:48965351-48965351
13 FTL NM_000146.4(FTL):c.-167C>T SNV Pathogenic
Pathogenic
963917 rs2038438402 GRCh37: 19:49468598-49468598
GRCh38: 19:48965341-48965341
14 FTL NM_000146.4(FTL):c.-160A>G SNV Pathogenic
Pathogenic
16474 rs398124633 GRCh37: 19:49468605-49468605
GRCh38: 19:48965348-48965348
15 FTL NM_000146.4(FTL):c.-168G>T SNV Pathogenic
Pathogenic
16479 rs398124635 GRCh37: 19:49468597-49468597
GRCh38: 19:48965340-48965340
16 FTL NM_000146.4(FTL):c.-166T>C SNV Likely Pathogenic
1052512 GRCh37: 19:49468599-49468599
GRCh38: 19:48965342-48965342
17 FTL NM_000146.4(FTL):c.89C>T (p.Thr30Ile) SNV Likely Pathogenic
39583 rs397514540 GRCh37: 19:49468853-49468853
GRCh38: 19:48965596-48965596
18 FTL NM_000146.4(FTL):c.143T>G (p.Val48Gly) SNV Uncertain Significance
1319503 GRCh37: 19:49469067-49469067
GRCh38: 19:48965810-48965810
19 FTL NM_000146.4(FTL):c.376C>G (p.Leu126Val) SNV Uncertain Significance
655682 rs775308103 GRCh37: 19:49469840-49469840
GRCh38: 19:48966583-48966583
20 FTL NC_000019.10:g.(?_48966261)_(48966755_?)del DEL Uncertain Significance
659582 GRCh37: 19:49469518-49470012
GRCh38: 19:48966261-48966755
21 FTL NM_000146.4(FTL):c.502G>T (p.Glu168Ter) SNV Uncertain Significance
565863 rs768204975 GRCh37: 19:49469966-49469966
GRCh38: 19:48966709-48966709
22 FTL NM_000146.4(FTL):c.155T>G (p.Phe52Cys) SNV Uncertain Significance
1049905 GRCh37: 19:49469079-49469079
GRCh38: 19:48965822-48965822
23 FTL NM_000146.4(FTL):c.523G>T (p.Asp175Tyr) SNV Uncertain Significance
1376747 GRCh37: 19:49469987-49469987
GRCh38: 19:48966730-48966730
24 FTL NM_000146.4(FTL):c.375+4C>T SNV Uncertain Significance
1404702 GRCh37: 19:49469667-49469667
GRCh38: 19:48966410-48966410
25 FTL NM_000146.4(FTL):c.492G>T (p.Glu164Asp) SNV Uncertain Significance
1436901 GRCh37: 19:49469956-49469956
GRCh38: 19:48966699-48966699
26 FTL NM_000146.4(FTL):c.218G>T (p.Arg73Leu) SNV Uncertain Significance
1492226 GRCh37: 19:49469142-49469142
GRCh38: 19:48965885-48965885
27 FTL NM_000146.4(FTL):c.17G>A (p.Arg6His) SNV Uncertain Significance
1348591 GRCh37: 19:49468781-49468781
GRCh38: 19:48965524-48965524
28 FTL NM_000146.4(FTL):c.139G>T (p.Gly47Cys) SNV Uncertain Significance
1345550 GRCh37: 19:49469063-49469063
GRCh38: 19:48965806-48965806
29 FTL NM_000146.4(FTL):c.379T>C (p.Cys127Arg) SNV Uncertain Significance
1512412 GRCh37: 19:49469843-49469843
GRCh38: 19:48966586-48966586
30 FTL NM_000146.4(FTL):c.194G>A (p.Arg65His) SNV Uncertain Significance
534233 rs1555797038 GRCh37: 19:49469118-49469118
GRCh38: 19:48965861-48965861
31 FTL NM_000146.4(FTL):c.375+5G>A SNV Uncertain Significance
1500854 GRCh37: 19:49469668-49469668
GRCh38: 19:48966411-48966411
32 FTL NM_000146.4(FTL):c.-186C>A SNV Uncertain Significance
894089 rs981348025 GRCh37: 19:49468579-49468579
GRCh38: 19:48965322-48965322
33 FTL NM_000146.4(FTL):c.1A>G (p.Met1Val) SNV Uncertain Significance
96689 rs139732572 GRCh37: 19:49468765-49468765
GRCh38: 19:48965508-48965508
34 FTL NM_000146.4(FTL):c.12G>C (p.Gln4His) SNV Uncertain Significance
940706 rs753168179 GRCh37: 19:49468776-49468776
GRCh38: 19:48965519-48965519
35 FTL NM_000146.4(FTL):c.466G>A (p.Gly156Ser) SNV Uncertain Significance
948940 rs151265703 GRCh37: 19:49469930-49469930
GRCh38: 19:48966673-48966673
36 FTL NM_000146.4(FTL):c.302T>C (p.Met101Thr) SNV Uncertain Significance
960669 rs750964137 GRCh37: 19:49469590-49469590
GRCh38: 19:48966333-48966333
37 FTL NM_000146.4(FTL):c.261A>C (p.Glu87Asp) SNV Uncertain Significance
1001552 rs762786833 GRCh37: 19:49469549-49469549
GRCh38: 19:48966292-48966292
38 FTL NM_000146.4(FTL):c.-148G>C SNV Uncertain Significance
1009717 rs2038438657 GRCh37: 19:49468617-49468617
GRCh38: 19:48965360-48965360
39 FTL NM_000146.4(FTL):c.473C>T (p.Pro158Leu) SNV Uncertain Significance
1017882 rs374486686 GRCh37: 19:49469937-49469937
GRCh38: 19:48966680-48966680
40 FTL NM_000146.4(FTL):c.178C>T (p.Arg60Cys) SNV Uncertain Significance
1040858 rs2038446533 GRCh37: 19:49469102-49469102
GRCh38: 19:48965845-48965845
41 FTL NM_000146.4(FTL):c.-173C>G SNV Uncertain Significance
894090 rs1053572388 GRCh37: 19:49468592-49468592
GRCh38: 19:48965335-48965335
42 FTL NM_000146.4(FTL):c.-86C>T SNV Uncertain Significance
894091 rs1319264120 GRCh37: 19:49468679-49468679
GRCh38: 19:48965422-48965422
43 FTL NM_000146.4(FTL):c.*76G>A SNV Uncertain Significance
894125 rs2038463168 GRCh37: 19:49470068-49470068
GRCh38: 19:48966811-48966811
44 FTL NM_000146.4(FTL):c.103-14A>C SNV Uncertain Significance
894480 rs769222073 GRCh37: 19:49469013-49469013
GRCh38: 19:48965756-48965756
45 FTL NM_000146.4(FTL):c.-46C>A SNV Uncertain Significance
Uncertain Significance
329785 rs768457741 GRCh37: 19:49468719-49468719
GRCh38: 19:48965462-48965462
46 FTL NM_000146.4(FTL):c.181G>A (p.Glu61Lys) SNV Uncertain Significance
893056 rs2038446561 GRCh37: 19:49469105-49469105
GRCh38: 19:48965848-48965848
47 FTL NM_000146.4(FTL):c.232C>T (p.Leu78Phe) SNV Uncertain Significance
893057 rs751857518 GRCh37: 19:49469156-49469156
GRCh38: 19:48965899-48965899
48 FTL NM_000146.4(FTL):c.-92T>C SNV Uncertain Significance
329784 rs886054563 GRCh37: 19:49468673-49468673
GRCh38: 19:48965416-48965416
49 FTL NM_000146.4(FTL):c.324C>T (p.Asn108=) SNV Uncertain Significance
893263 rs754652110 GRCh37: 19:49469612-49469612
GRCh38: 19:48966355-48966355
50 FTL NC_000019.9:g.49468534C>T SNV Uncertain Significance
1420487 GRCh37: 19:49468534-49468534
GRCh38: 19:48965277-48965277

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

73
# Symbol AA change Variation ID SNP ID
1 FTL p.Thr30Ile VAR_070948 rs397514540

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
13.09 TFR2 TF SLC40A1 SLC11A2 IREB2 HFE
2 12.19 SLC11A2 IREB2 FTH1 ACO1
3
Show member pathways
11.56 TFR2 TF SLC40A1 SLC11A2 IREB2 HFE
4 11.46 TF SLC40A1 HFE HAMP
5 11.31 TF SLC40A1 SLC11A2 IREB2 FTMT FTL
6 10.46 ACO1 IREB2 SLC11A2 SLC40A1 TFR2
7 10.34 HJV HFE HAMP

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 autolysosome GO:0044754 9.56 FTL FTH1
2 intracellular ferritin complex GO:0008043 9.46 FTL FTH1
3 basal part of cell GO:0045178 9.43 TF SLC11A2 HFE
4 HFE-transferrin receptor complex GO:1990712 9.23 TFR2 TF HJV HFE

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cellular iron ion homeostasis GO:0006879 10.29 ACO1 ALAS2 FTH1 FTHL17 FTL FTMT
2 establishment of localization in cell GO:0051649 10.04 SLC40A1 SLC11A2 IREB2 HAMP
3 response to iron ion GO:0010039 9.97 TFR2 SLC11A2 HFE HAMP
4 multicellular organismal iron ion homeostasis GO:0060586 9.92 SLC40A1 SLC11A2 HFE HAMP
5 iron ion transmembrane transport GO:0034755 9.91 SLC40A1 SLC11A2 HAMP
6 iron ion transport GO:0006826 9.89 FTH1 FTHL17 FTL FTMT IREB2 SLC11A2
7 cellular response to iron ion GO:0071281 9.88 TFR2 TF HFE
8 intestinal absorption GO:0050892 9.86 IREB2 ACO1
9 intracellular sequestering of iron ion GO:0006880 9.86 FTH1 FTHL17 FTL FTMT
10 protoporphyrinogen IX biosynthetic process GO:0006782 9.85 IREB2 ALAS2
11 positive regulation of peptide hormone secretion GO:0090277 9.84 TFR2 HFE
12 citrate metabolic process GO:0006101 9.81 IREB2 ACO1
13 regulation of iron ion transport GO:0034756 9.78 HFE TF
14 response to iron ion starvation GO:1990641 9.76 HAMP HFE
15 iron ion homeostasis GO:0055072 9.53 FTL HAMP HFE HJV IREB2 SLC11A2
16 porphyrin-containing compound metabolic process GO:0006778 9.52 SLC11A2 ALAS2

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

# Name GO ID Score Top Affiliating Genes
1 co-receptor binding GO:0039706 9.76 TFR2 HFE
2 iron ion transmembrane transporter activity GO:0005381 9.73 SLC40A1 SLC11A2
3 ferrous iron transmembrane transporter activity GO:0015093 9.71 SLC40A1 SLC11A2
4 ferroxidase activity GO:0004322 9.67 FTMT FTH1
5 ferrous iron binding GO:0008198 9.65 TF FTMT FTL FTHL17 FTH1
6 transferrin receptor binding GO:1990459 9.63 HFE HJV TF
7 iron-responsive element binding GO:0030350 9.62 IREB2 ACO1
8 aconitate hydratase activity GO:0003994 9.56 IREB2 ACO1
9 ferric iron binding GO:0008199 9.32 TF FTMT FTL FTHL17 FTH1

Sources for Hyperferritinemia with or Without Cataract

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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