HRFTC
MCID: HYP801
MIFTS: 53

Hyperferritinemia with or Without Cataract (HRFTC)

Categories: Blood diseases, Eye diseases, Genetic diseases, Rare 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 12 72
Hyperferritinemia-Cataract Syndrome 57 12 43 72 13 54 15
Hereditary Hyperferritinemia with Congenital Cataracts 12 43 58 29 6
Hhcs 57 12 43 58 72
Hyperferritinemia, Hereditary, with Congenital Cataracts 57 72 44 70
Bonneau-Beaumont Syndrome 12 20 43 58
Hereditary Hyperferritinemia-Cataract Syndrome 12 43 58
Hrftc 57 12 72
Cataract-Hyperferritinemia Syndrome 12 20
Hyperferritinemia, Hereditary, with Congenital Cataracts; Hhcs 57
Hereditary Hyperferritinemia Cataract Syndrome 20
Hyperferritinemia, with/without Cataract 39
Hyperferritinemia Cataract Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
hereditary hyperferritinemia-cataract syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
hyperferritinemia with or without cataract:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111256
OMIM® 57 600886
SNOMED-CT 67 702398007
MESH via Orphanet 45 C538137
ICD10 via Orphanet 33 H26.0
UMLS via Orphanet 71 C1833213
Orphanet 58 ORPHA163
MedGen 41 C1833213
UMLS 70 C1833213

Summaries for Hyperferritinemia with or Without Cataract

MedlinePlus Genetics : 43 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 neurodegeneration with brain iron accumulation 3 and rare hereditary hemochromatosis. 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 Glucose / Energy Metabolism. The drugs Isoniazid and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and brain, and related phenotypes are cataract and abnormality of metabolism/homeostasis

Disease Ontology : 12 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.

GARD : 20 Hyperferritinemia cataract syndrome 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.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Ferritin is a universal intracellular protein that stores iron and releases it in a controlled fashion.... more...

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 all 49)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 3 30.5 SLC11A2 IREB2 FTL FTH1 ACO1
2 rare hereditary hemochromatosis 30.4 TFR2 TF SLC40A1 HJV HFE HAMP
3 hemosiderosis 30.1 TFR2 TF SLC40A1 SLC11A2 HJV HFE
4 iron deficiency anemia 29.2 TFR2 TF SLC40A1 SLC11A2 HJV HFE
5 hypochromic microcytic anemia 29.0 TF SLC11A2 IREB2 HJV HAMP ALAS2
6 iron metabolism disease 29.0 TFR2 TF SLC40A1 SLC11A2 IREB2 HJV
7 hemochromatosis, type 1 28.2 TFR2 TF SLC40A1 SLC25A37 SLC11A2 IREB2
8 deficiency anemia 28.0 TFR2 TF SLC40A1 SLC25A37 SLC11A2 IREB2
9 cataract 10.9
10 superficial siderosis of the central nervous system 10.2 TF FTH1
11 superficial siderosis 10.2 TF FTH1
12 macrophage activation syndrome 10.0 FTL FTH1
13 anemia, hypochromic microcytic, with iron overload 1 10.0
14 astigmatism 10.0
15 carbonic anhydrase va deficiency, hyperammonemia due to 10.0
16 spastic paraplegia 38, autosomal dominant 10.0 IREB2 FTL FTH1 ACO1
17 hemochromatosis, type 2b 10.0 HAMP FTL
18 alpha-1-antitrypsin deficiency 9.9 IREB2 HFE HAMP
19 anemia, sideroblastic, and spinocerebellar ataxia 9.9 SLC25A37 ALAS2 ACO1
20 hemochromatosis, type 2a 9.9 HJV HAMP
21 erythrocytosis, familial, 2 9.9 SLC11A2 HAMP ACO1
22 friedreich ataxia 2 9.9 FTMT FTHL17
23 mitochondrial dna depletion syndrome 3 9.8 SLC40A1 HJV
24 nutritional deficiency disease 9.8 TF HJV HAMP
25 arthropathy 9.8 HJV HFE HAMP
26 hemochromatosis, type 5 9.8 TFR2 HJV HFE FTL FTH1
27 acute porphyria 9.8 SLC25A37 IREB2 HFE ALAS2
28 protoporphyria, erythropoietic, 1 9.8 SLC25A37 IREB2 ALAS2 ACO1
29 friedreich ataxia 9.8 IREB2 HFE FTMT ACO1
30 inherited metabolic disorder 9.8 TFR2 HJV HFE HAMP
31 siderosis 9.7 TF SLC40A1 HFE HAMP FTH1
32 cardiomyopathy, familial hypertrophic, 9 9.7 FTMT FTL FTHL17 FTH1
33 cutaneous porphyria 9.7 SLC25A37 HFE HAMP ALAS2
34 iron overload in africa 9.5 TFR2 TF SLC40A1 HJV HFE HAMP
35 hemoglobinopathy 9.5 TFR2 TF HJV HFE HAMP ALAS2
36 porphyria 9.5 TFR2 SLC40A1 HJV HFE HAMP ALAS2
37 hemochromatosis, type 4 9.4 TFR2 SLC40A1 SLC11A2 HJV HFE HAMP
38 porphyria cutanea tarda 9.3 TFR2 TF SLC40A1 HJV HFE HAMP
39 atransferrinemia 9.3 TFR2 TF SLC40A1 SLC11A2 HJV HFE
40 hemochromatosis, type 3 9.3 TFR2 SLC40A1 SLC11A2 HJV HFE HAMP
41 sideroblastic anemia 9.2 TFR2 SLC40A1 IREB2 HAMP FTMT ALAS2
42 restless legs syndrome 9.2 SLC11A2 IREB2 HAMP FTMT FTL FTH1
43 beta-thalassemia 9.2 TFR2 TF IREB2 HJV HFE HAMP
44 neurodegeneration with brain iron accumulation 9.1 TFR2 SLC40A1 SLC11A2 IREB2 HFE HAMP
45 hemochromatosis type 2 9.0 TFR2 SLC40A1 SLC11A2 IREB2 HJV HFE
46 microcytic anemia 9.0 TFR2 TF SLC40A1 SLC11A2 IREB2 HJV
47 metal metabolism disorder 8.9 TFR2 SLC40A1 SLC11A2 IREB2 HJV HFE
48 anemia, sideroblastic, 1 8.8 TFR2 SLC40A1 SLC25A37 SLC11A2 IREB2 HJV
49 aceruloplasminemia 8.6 TFR2 SLC40A1 SLC25A37 SLC11A2 IREB2 HJV

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 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 abnormality of metabolism/homeostasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001939
3 pulverulent cataract 31 occasional (7.5%) HP:0010693
4 increased circulating ferritin concentration 31 very rare (1%) HP:0003281
5 nuclear cataract 31 HP:0100018

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

MGI Mouse Phenotypes related to Hyperferritinemia with or Without Cataract:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.1 ALAS2 FTH1 FTL GCNT2 HFE HJV
2 homeostasis/metabolism MP:0005376 10.07 ACO1 ALAS2 FTH1 FTL GCNT2 HFE
3 immune system MP:0005387 9.9 FTH1 FTL GCNT2 HFE HJV IREB2
4 integument MP:0010771 9.56 ALAS2 GCNT2 HJV IREB2 SLC11A2 SLC25A37
5 liver/biliary system MP:0005370 9.28 FTH1 FTL HFE HJV IREB2 SLC11A2

Drugs & Therapeutics for Hyperferritinemia with or Without Cataract

Drugs for Hyperferritinemia with or Without Cataract (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Isoniazid Approved, Investigational Phase 3 54-85-3 3767
2
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
3
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
4
Baloxavir Investigational Phase 3 1985605-59-1
5 Anti-Infective Agents Phase 3
6 Antiviral Agents Phase 3
7 Vitamin B9 Phase 3
8 Trace Elements Phase 3
9 Nutrients Phase 3
10 Micronutrients Phase 3
11 Vitamins Phase 3
12 Antimetabolites Phase 3
13 Vitamin B Complex Phase 3
14 Lipid Regulating Agents Phase 3
15 Vitamin B 6 Phase 3
16 Folate Phase 3
17 Antitubercular Agents Phase 3
18 Anti-Bacterial Agents Phase 3
19 Hypolipidemic Agents Phase 3
20
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
21 Hypoglycemic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase IIIB, Multicenter, Randomized, Double-Blind, Placebo-Controlled, Clinical Efficacy Study of Baloxavir Marboxil for the Reduction of Direct Transmission of Influenza From Otherwise Healthy Patients to Household Contacts Recruiting NCT03969212 Phase 3 Baloxavir Marboxil;Placebo
2 Protecting Households On Exposure to Newly Diagnosed Index Multidrug-Resistant Tuberculosis Patients (PHOENIx MDR-TB) Recruiting NCT03568383 Phase 3 Delamanid (DLM);Isoniazid (INH)
3 Improving Metabolic Control and Reducing Hypoglycemic Risk in Type 1 Diabetes Mellitus With Biological and Behavioral Feedback Completed NCT00315939
4 A Multisite Cluster RCT of the Dementia Symptom Management at Home Program Recruiting NCT03255967
5 Prospective Study of Concussion and PTSD in Structurally Brain Injured, Non-Structurally Brain Injured and Non-Brain Injured Trauma Victims in Bellevue HHC Terminated NCT02119533

Search 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 29 FTL

Anatomical Context for Hyperferritinemia with or Without Cataract

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

40
Eye, Liver, Brain

Publications for Hyperferritinemia with or Without Cataract

Articles related to Hyperferritinemia with or Without Cataract:

(show top 50) (show all 113)
# 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. 6 57 61
23300176 2013
2
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 6 57
19176363 2009
3
Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome. 57 6
23421845 2013
4
Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations. 6 57
12199804 2002
5
Onset of cataract in early infancy associated with a 32G-->C transition in the iron responsive element of L-ferritin. 57 6
12200611 2002
6
Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome. 57 6
11703332 2001
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. 6 57
10759702 2000
8
Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. 6 57
7493028 1995
9
A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract. 57 6
7669675 1995
10
A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome. 61 6 54
19800271 2010
11
[Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")]. 61 6 54
16900584 2006
12
Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome. 61 54 6
10366790 1999
13
Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome. 6 61
27096259 2017
14
Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene. 61 6
22881709 2013
15
Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families. 61 6
21907119 2011
16
Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome. 61 6
15690351 2005
17
Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations. 6 61
14662596 2003
18
Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene. 6 61
10366804 1999
19
Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family. 6 61
10383191 1999
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. 61 6
9414300 1998
21
Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element. 61 6
9414313 1998
22
Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene. 61 6
9292547 1997
23
Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA. 6 61
9226182 1997
24
A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome. 61 6
8781450 1996
25
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") 61 6
7492760 1995
26
Hereditary hyperferritinaemia cataract syndrome. 6
24766965 2014
27
Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome. 57
15280904 2004
28
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms. 57
15173247 2004
29
A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome. 6
11849230 2002
30
Loops and bulge/loops in iron-responsive element isoforms influence iron regulatory protein binding. Fine-tuning of mRNA regulation? 6
9726965 1998
31
Bilateral cataract and high serum ferritin: a new dominant genetic disorder? 57
8558554 1995
32
The interaction between the iron-responsive element binding protein and its cognate RNA is highly dependent upon both RNA sequence and structure. 6
8233801 1993
33
Structural requirements of iron-responsive elements for binding of the protein involved in both transferrin receptor and ferritin mRNA post-transcriptional regulation. 6
2336358 1990
34
Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IRE. 54 61
16406710 2006
35
Post-transcriptional control via iron-responsive elements: the impact of aberrations in hereditary disease. 61 54
10592329 1999
36
Classification and diagnosis of iron overload. 61 54
9658731 1998
37
Duet procedure to achieve reversible trifocality in a young patient with hereditary hyperferritinemia-cataract syndrome. 61
33615038 2021
38
Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications. 61
33221470 2020
39
A case of iron deficiency anemia with extremely hyperferritinemia responds well to oral iron: the first identified hereditary hyperferritinemia cataract syndrome in China. 61
32436012 2020
40
Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee. 61
32547795 2020
41
Elevated serum ferritin level with cataract of spectacular morphology: Hyperferritinemia-cataract syndrome. 61
31522592 2019
42
Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G 61
30401656 2019
43
FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family. 61
29426274 2018
44
Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome. 61
28746593 2017
45
Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family. 61
26849797 2016
46
A Novel Phenotype of a Hereditary Hemochromatosis Type 4 with Ferroportin-1 Mutation, Presenting with Juvenile Cataracts. 61
27629970 2016
47
Aqueous humor ferritin in hereditary hyperferritinemia cataract syndrome. 61
25756341 2015
48
Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia. 61
24983587 2014
49
Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload. 61
24003015 2014
50
[New mutation in a Spanish family with hereditary hyperferritinemia-cataract syndrome]. 61
24022025 2014

Variations for Hyperferritinemia with or Without Cataract

ClinVar genetic disease variations for Hyperferritinemia with or Without Cataract:

6 (show top 50) (show all 70)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FTL NM_000146.4(FTL):c.89C>T (p.Thr30Ile) SNV Pathogenic 39583 rs397514540 GRCh37: 19:49468853-49468853
GRCh38: 19:48965596-48965596
2 FTL NM_000146.4(FTL):c.-164C>T SNV Pathogenic 96691 rs398124637 GRCh37: 19:49468601-49468601
GRCh38: 19:48965344-48965344
3 FTL NM_000146.4(FTL):c.-168G>C SNV Pathogenic 16485 rs398124635 GRCh37: 19:49468597-49468597
GRCh38: 19:48965340-48965340
4 FTL NM_000146.4(FTL):c.-175_-170del Deletion Pathogenic 16484 rs398124639 GRCh37: 19:49468587-49468592
GRCh38: 19:48965330-48965335
5 FTL NM_000146.4(FTL):c.-149G>C SNV Pathogenic 16482 rs398124638 GRCh37: 19:49468616-49468616
GRCh38: 19:48965359-48965359
6 FTL NM_000146.4(FTL):c.-164C>A SNV Pathogenic 16481 rs398124637 GRCh37: 19:49468601-49468601
GRCh38: 19:48965344-48965344
7 FTL NM_000146.4(FTL):c.-161C>T SNV Pathogenic 16480 rs398124636 GRCh37: 19:49468604-49468604
GRCh38: 19:48965347-48965347
8 FTL NM_000146.4(FTL):c.-189_-161del Deletion Pathogenic 16478 rs1555796939 GRCh37: 19:49468575-49468603
GRCh38: 19:48965318-48965346
9 FTL NM_000146.4(FTL):c.-182C>T SNV Pathogenic 441527 rs886037622 GRCh37: 19:49468583-49468583
GRCh38: 19:48965326-48965326
10 FTL NM_000146.4(FTL):c.-168G>A SNV Pathogenic 16476 rs398124635 GRCh37: 19:49468597-49468597
GRCh38: 19:48965340-48965340
11 FTL NM_000146.4(FTL):c.-159G>C SNV Pathogenic 16475 rs398124634 GRCh37: 19:49468606-49468606
GRCh38: 19:48965349-48965349
12 FTL NM_000146.4(FTL):c.-160A>G SNV Pathogenic 16474 rs398124633 GRCh37: 19:49468605-49468605
GRCh38: 19:48965348-48965348
13 FTL NM_000146.4(FTL):c.-164C>A SNV Pathogenic 16481 rs398124637 GRCh37: 19:49468601-49468601
GRCh38: 19:48965344-48965344
14 FTL NM_000146.4(FTL):c.-161C>T SNV Pathogenic 16480 rs398124636 GRCh37: 19:49468604-49468604
GRCh38: 19:48965347-48965347
15 FTL NM_000146.4(FTL):c.-160A>G SNV Pathogenic 16474 rs398124633 GRCh37: 19:49468605-49468605
GRCh38: 19:48965348-48965348
16 FTL NM_000146.4(FTL):c.-157G>A SNV Pathogenic 647521 rs1600120873 GRCh37: 19:49468608-49468608
GRCh38: 19:48965351-48965351
17 FTL NM_000146.4(FTL):c.-167C>T SNV Pathogenic 963917 GRCh37: 19:49468598-49468598
GRCh38: 19:48965341-48965341
18 FTL NM_000146.4(FTL):c.-168G>T SNV Pathogenic 16479 rs398124635 GRCh37: 19:49468597-49468597
GRCh38: 19:48965340-48965340
19 FTL NM_000146.4(FTL):c.249+3A>G SNV Uncertain significance 860119 GRCh37: 19:49469176-49469176
GRCh38: 19:48965919-48965919
20 FTL NM_000146.4(FTL):c.466G>A (p.Gly156Ser) SNV Uncertain significance 948940 GRCh37: 19:49469930-49469930
GRCh38: 19:48966673-48966673
21 FTL NM_000146.4(FTL):c.302T>C (p.Met101Thr) SNV Uncertain significance 960669 GRCh37: 19:49469590-49469590
GRCh38: 19:48966333-48966333
22 FTL NM_000146.4(FTL):c.-186C>A SNV Uncertain significance 894089 GRCh37: 19:49468579-49468579
GRCh38: 19:48965322-48965322
23 FTL NM_000146.4(FTL):c.-173C>G SNV Uncertain significance 894090 GRCh37: 19:49468592-49468592
GRCh38: 19:48965335-48965335
24 FTL NM_000146.4(FTL):c.-86C>T SNV Uncertain significance 894091 GRCh37: 19:49468679-49468679
GRCh38: 19:48965422-48965422
25 FTL NM_000146.4(FTL):c.*76G>A SNV Uncertain significance 894125 GRCh37: 19:49470068-49470068
GRCh38: 19:48966811-48966811
26 FTL NM_000146.4(FTL):c.103-14A>C SNV Uncertain significance 894480 GRCh37: 19:49469013-49469013
GRCh38: 19:48965756-48965756
27 FTL NM_000146.4(FTL):c.261A>C (p.Glu87Asp) SNV Uncertain significance 1001552 GRCh37: 19:49469549-49469549
GRCh38: 19:48966292-48966292
28 FTL NM_000146.4(FTL):c.-148G>C SNV Uncertain significance 1009717 GRCh37: 19:49468617-49468617
GRCh38: 19:48965360-48965360
29 FTL NM_000146.4(FTL):c.12G>C (p.Gln4His) SNV Uncertain significance 940706 GRCh37: 19:49468776-49468776
GRCh38: 19:48965519-48965519
30 FTL NM_000146.4(FTL):c.473C>T (p.Pro158Leu) SNV Uncertain significance 1017882 GRCh37: 19:49469937-49469937
GRCh38: 19:48966680-48966680
31 FTL NM_000146.4(FTL):c.178C>T (p.Arg60Cys) SNV Uncertain significance 1040858 GRCh37: 19:49469102-49469102
GRCh38: 19:48965845-48965845
32 FTL NM_000146.4(FTL):c.376C>G (p.Leu126Val) SNV Uncertain significance 655682 rs775308103 GRCh37: 19:49469840-49469840
GRCh38: 19:48966583-48966583
33 FTL NC_000019.10:g.(?_48966261)_(48966755_?)del Deletion Uncertain significance 659582 GRCh37: 19:49469518-49470012
GRCh38: 19:48966261-48966755
34 FTL NM_000146.4(FTL):c.324C>T (p.Asn108=) SNV Uncertain significance 893263 GRCh37: 19:49469612-49469612
GRCh38: 19:48966355-48966355
35 FTL NM_000146.4(FTL):c.181G>A (p.Glu61Lys) SNV Uncertain significance 893056 GRCh37: 19:49469105-49469105
GRCh38: 19:48965848-48965848
36 FTL NM_000146.4(FTL):c.232C>T (p.Leu78Phe) SNV Uncertain significance 893057 GRCh37: 19:49469156-49469156
GRCh38: 19:48965899-48965899
37 FTL NM_000146.4(FTL):c.*131A>T SNV Uncertain significance 329789 rs374919004 GRCh37: 19:49470123-49470123
GRCh38: 19:48966866-48966866
38 FTL NM_000146.4(FTL):c.-92T>C SNV Uncertain significance 329784 rs886054563 GRCh37: 19:49468673-49468673
GRCh38: 19:48965416-48965416
39 FTL NM_000146.4(FTL):c.-46C>A SNV Uncertain significance 329785 rs768457741 GRCh37: 19:49468719-49468719
GRCh38: 19:48965462-48965462
40 FTL NM_000146.4(FTL):c.194G>A (p.Arg65His) SNV Uncertain significance 534233 rs1555797038 GRCh37: 19:49469118-49469118
GRCh38: 19:48965861-48965861
41 FTL NM_000146.4(FTL):c.502G>T (p.Glu168Ter) SNV Uncertain significance 565863 rs768204975 GRCh37: 19:49469966-49469966
GRCh38: 19:48966709-48966709
42 FTL , GYS1 NM_002103.5(GYS1):c.*868A>G SNV Likely benign 329793 rs571576339 GRCh37: 19:49471677-49471677
GRCh38: 19:48968420-48968420
43 FTL , GYS1 NM_002103.5(GYS1):c.*659C>T SNV Likely benign 329797 rs367578611 GRCh37: 19:49471886-49471886
GRCh38: 19:48968629-48968629
44 FTL , LOC119369037 , GYS1 NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys) SNV Likely benign 329810 rs561646250 GRCh37: 19:49474215-49474215
GRCh38: 19:48970958-48970958
45 FTL , GYS1 NM_002103.5(GYS1):c.*421A>G SNV Likely benign 369277 rs181566066 GRCh37: 19:49472124-49472124
GRCh38: 19:48968867-48968867
46 FTL , GYS1 NM_002103.5(GYS1):c.*450G>A SNV Likely benign 329799 rs3745693 GRCh37: 19:49472095-49472095
GRCh38: 19:48968838-48968838
47 FTL , GYS1 NM_002103.5(GYS1):c.*301G>A SNV Likely benign 329801 rs147489255 GRCh37: 19:49472244-49472244
GRCh38: 19:48968987-48968987
48 FTL , GYS1 NM_002103.5(GYS1):c.*370A>C SNV Likely benign 329800 rs185366453 GRCh37: 19:49472175-49472175
GRCh38: 19:48968918-48968918
49 FTL , GYS1 NM_002103.5(GYS1):c.*908G>A SNV Likely benign 329792 rs117997270 GRCh37: 19:49471637-49471637
GRCh38: 19:48968380-48968380
50 FTL , GYS1 NM_002103.5(GYS1):c.*841A>G SNV Likely benign 329794 rs75797604 GRCh37: 19:49471704-49471704
GRCh38: 19:48968447-48968447

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

72
# 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

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 recycling endosome GO:0055037 9.5 TF SLC11A2 HFE
2 autolysosome GO:0044754 9.26 FTL FTH1
3 intracellular ferritin complex GO:0008043 9.16 FTL FTH1
4 basal part of cell GO:0045178 9.13 TF SLC11A2 HFE
5 HFE-transferrin receptor complex GO:1990712 8.92 TFR2 TF HJV HFE

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.98 TF SLC40A1 SLC25A37 SLC11A2 HFE
2 iron ion transport GO:0006826 9.76 TFR2 TF SLC11A2 IREB2 FTMT FTL
3 acute-phase response GO:0006953 9.67 TFR2 HFE HAMP
4 iron ion homeostasis GO:0055072 9.65 TFR2 TF SLC40A1 SLC25A37 SLC11A2 IREB2
5 liver regeneration GO:0097421 9.62 HFE HAMP
6 response to iron ion GO:0010039 9.62 TFR2 SLC11A2 HFE HAMP
7 osteoclast differentiation GO:0030316 9.61 TF IREB2
8 positive regulation of receptor-mediated endocytosis GO:0048260 9.61 TF HFE
9 transferrin transport GO:0033572 9.61 TFR2 TF HFE
10 heme biosynthetic process GO:0006783 9.6 SLC11A2 ALAS2
11 erythrocyte development GO:0048821 9.59 SLC11A2 ALAS2
12 intestinal absorption GO:0050892 9.58 IREB2 ACO1
13 cellular response to iron ion GO:0071281 9.58 TFR2 TF HFE
14 protoporphyrinogen IX biosynthetic process GO:0006782 9.57 IREB2 ALAS2
15 positive regulation of peptide hormone secretion GO:0090277 9.56 TFR2 HFE
16 intracellular sequestering of iron ion GO:0006880 9.56 FTMT FTL FTHL17 FTH1
17 iron ion transmembrane transport GO:0034755 9.55 SLC40A1 SLC11A2
18 porphyrin-containing compound metabolic process GO:0006778 9.54 SLC11A2 ALAS2
19 multicellular organismal iron ion homeostasis GO:0060586 9.54 SLC40A1 SLC11A2 HAMP
20 citrate metabolic process GO:0006101 9.52 IREB2 ACO1
21 divalent inorganic cation transport GO:0072511 9.51 SLC40A1 SLC11A2
22 response to iron ion starvation GO:1990641 9.48 HFE HAMP
23 cellular iron ion homeostasis GO:0006879 9.47 TFR2 TF SLC40A1 SLC11A2 IREB2 HJV
24 regulation of iron ion transport GO:0034756 9.46 TF HFE

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

# Name GO ID Score Top Affiliating Genes
1 transferrin receptor binding GO:1990459 9.5 TF HJV HFE
2 co-receptor binding GO:0039706 9.46 TFR2 HFE
3 ferrous iron transmembrane transporter activity GO:0015093 9.43 SLC40A1 SLC11A2
4 iron ion transmembrane transporter activity GO:0005381 9.43 SLC40A1 SLC25A37 SLC11A2
5 aconitate hydratase activity GO:0003994 9.4 IREB2 ACO1
6 iron-responsive element binding GO:0030350 9.37 IREB2 ACO1
7 ferrous iron binding GO:0008198 9.35 TF FTMT FTL FTHL17 FTH1
8 ferroxidase activity GO:0004322 9.33 FTMT FTHL17 FTH1
9 ferric iron binding GO:0008199 9.02 TF FTMT FTL FTHL17 FTH1

Sources for Hyperferritinemia with or Without Cataract

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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