MCID: HYP099
MIFTS: 43

Hyperferritinemia-Cataract Syndrome

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Hyperferritinemia-Cataract Syndrome

MalaCards integrated aliases for Hyperferritinemia-Cataract Syndrome:

Name: Hyperferritinemia-Cataract Syndrome 54 25 71 13 52
Hyperferritinemia Cataract Syndrome 50 24 29
Bonneau-Beaumont Syndrome 50 25 56
Hhcs 25 56 71
Hyperferritinemia, Hereditary, with Congenital Cataracts 71 69
Hereditary Hyperferritinemia with Congenital Cataracts 25 56
Hereditary Hyperferritinemia-Cataract Syndrome 25 56
Hereditary Hyperferritinemia Cataract Syndrome 50
Hyperferritinemia with or Without Cataract 71
Cataract-Hyperferritinemia Syndrome 50
Hrftc 71

Characteristics:

Orphanet epidemiological data:

56
hereditary hyperferritinemia with congenital cataracts
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

54
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-cataract syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 600886
Orphanet 56 ORPHA163
MESH via Orphanet 43 C538137
UMLS via Orphanet 70 C1833213
ICD10 via Orphanet 34 H26.0
MedGen 40 C1833213

Summaries for Hyperferritinemia-Cataract Syndrome

NIH Rare Diseases : 50 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. last updated: 8/27/2015

MalaCards based summary : Hyperferritinemia-Cataract Syndrome, also known as hyperferritinemia cataract syndrome, is related to hypocalciuric hypercalcemia, type i and cataract, and has symptoms including cataract, abnormality of metabolism/homeostasis and increased serum ferritin. An important gene associated with Hyperferritinemia-Cataract Syndrome is FTL (Ferritin Light Chain), and among its related pathways/superpathways are Mineral absorption and Differentiation Pathway. Affiliated tissues include eye, and related phenotype is homeostasis/metabolism.

UniProtKB/Swiss-Prot : 71 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-Cataract Syndrome

Diseases related to Hyperferritinemia-Cataract Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
id Related Disease Score Top Affiliating Genes
1 hypocalciuric hypercalcemia, type i 11.1
2 cataract 10.8
3 dermatoosteolysis, kirghizian type 10.2 HFE TF
4 timothy syndrome type 2 10.2 HFE TF
5 tinf2-related dyskeratosis congenita 10.2 HFE TF
6 narcolepsy 10.2 HFE TF
7 slate pneumoconiosis 10.2 HFE TF
8 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2 HFE TF
9 endometrial adenocarcinoma 10.1 HFE TF
10 sickle cell anemia 10.1 HFE TF
11 porphyria cutanea tarda 10.1 HFE TF
12 spinocerebellar ataxia 8 10.1 HFE TF
13 hemochromatosis 10.1
14 intestinal tuberculosis 10.0 HFE TF
15 deficiency anemia 9.9
16 iron deficiency anemia 9.9
17 episcleritis periodica fugax 9.9 FTL HFE TF
18 poems syndrome 9.9 CRP TF
19 euthyroid sick syndrome 9.9 CRP TF
20 microcephaly 8, primary, autosomal recessive 9.8 CRP TF
21 spastic entropion 9.8 CRP TF
22 mediastinum leiomyoma 9.8 CRP TF
23 exocrine pancreatic insufficiency 9.7 CRP TF
24 cat-scratch disease 9.7 ACO1 IREB2 TF
25 intramuscular hemangioma 9.7 CRP TF
26 post-thrombotic syndrome 9.6 HFE IREB2 TF
27 calcinosis 9.6 CRP TF
28 tongue squamous cell carcinoma 9.6 HFE TF
29 adult respiratory distress syndrome 9.6 CRP HFE
30 lacrimal system cancer 9.5 CRP TF
31 glossopharyngeal nerve paralysis 9.5 CRP HFE
32 blind hypotensive eye 9.4 CRP HFE TF
33 ovarian clear cell malignant adenofibroma 9.4 CRP HFE TF
34 tendinosis 9.1 CRP FTL HFE TF
35 nasu-hakola disease 8.9 ACO1 FTL HFE IREB2 TF
36 harp syndrome 7.5 ACO1 CRP FTL HFE IREB2 TF

Graphical network of the top 20 diseases related to Hyperferritinemia-Cataract Syndrome:



Diseases related to Hyperferritinemia-Cataract Syndrome

Symptoms & Phenotypes for Hyperferritinemia-Cataract Syndrome

Symptoms via clinical synopsis from OMIM:

54

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-Cataract Syndrome:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 56 32 hallmark (90%) Very frequent (99-80%) HP:0000518
2 abnormality of metabolism/homeostasis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001939
3 increased serum ferritin 32 HP:0003281
4 pulverulent cataract 32 occasional (7.5%) HP:0010693
5 congenital nuclear cataract 32 HP:0008024

MGI Mouse Phenotypes related to Hyperferritinemia-Cataract Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.1 ACO1 CRP HFE IREB2 TF WNT2

Drugs & Therapeutics for Hyperferritinemia-Cataract Syndrome

Search Clinical Trials , NIH Clinical Center for Hyperferritinemia-Cataract Syndrome

Genetic Tests for Hyperferritinemia-Cataract Syndrome

Genetic tests related to Hyperferritinemia-Cataract Syndrome:

id Genetic test Affiliating Genes
1 Hyperferritinemia Cataract Syndrome 29 24 FTL

Anatomical Context for Hyperferritinemia-Cataract Syndrome

MalaCards organs/tissues related to Hyperferritinemia-Cataract Syndrome:

39
Eye

Publications for Hyperferritinemia-Cataract Syndrome

Articles related to Hyperferritinemia-Cataract Syndrome:

(show top 50) (show all 53)
id Title Authors Year
1
Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome. ( 28746593 )
2017
2
Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family. ( 26849797 )
2016
3
Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome. ( 27096259 )
2016
4
Aqueous humor ferritin in hereditary hyperferritinemia cataract syndrome. ( 25756341 )
2015
5
Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia. ( 24983587 )
2014
6
[New mutation in a Spanish family with hereditary hyperferritinemia-cataract syndrome]. ( 24022025 )
2014
7
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
8
Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload. ( 24003015 )
2013
9
A new family with hereditary hyperferritinemia cataract syndrome. ( 24551982 )
2013
10
The hereditary hyperferritinemia-cataract syndrome in 2 italian families. ( 24368960 )
2013
11
Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene. ( 22881709 )
2013
12
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
13
Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families. ( 22020773 )
2011
14
Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families. ( 21907119 )
2011
15
Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family. ( 21210779 )
2011
16
A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome. ( 19800271 )
2010
17
The hereditary hyperferritinemia-cataract syndrome: a family study. ( 20617342 )
2010
18
The case of a 1-year-old girl with hereditary hyperferritinemia cataract syndrome. ( 19382035 )
2009
19
Identification of a novel mutation in the L ferritin iron-responsive element causing hereditary hyperferritinemia-cataract syndrome. ( 19887780 )
2009
20
[Hereditary hyperferritinemia cataract syndrome--the first family in Germany]. ( 19994473 )
2009
21
[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
22
Hereditary hyperferritinemia-cataract syndrome. ( 17572344 )
2007
23
A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site. ( 17579362 )
2007
24
Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IRE. ( 16406710 )
2006
25
Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings. ( 16496261 )
2006
26
Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism. ( 16395671 )
2006
27
[Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")]. ( 16900584 )
2006
28
A point mutation in the iron-responsive element of the L-ferritin in a family with hereditary hyperferritinemia cataract syndrome. ( 15861269 )
2005
29
Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome. ( 15690351 )
2005
30
Gene symbol: FTL. Disease: Hyperferritinemia-cataract syndrome. ( 15046083 )
2004
31
Hereditary hyperferritinemia-cataract syndrome. Study of a new family in Spain. ( 15283633 )
2004
32
Hereditary hyperferritinemia-cataract syndrome: a novel mutation in the iron-responsive element of the L-ferritin gene in a French family. ( 15234655 )
2004
33
Prevalence of hereditary hyperferritinemia-cataract syndrome in blood donors and patients with cataract. ( 12604412 )
2003
34
Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations. ( 14662596 )
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
Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family. ( 10383191 )
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
Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene. ( 10366804 )
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
Coinheritance of alleles associated with hemochromatosis and hereditary hyperferritinemia-cataract syndrome. ( 9882097 )
1998
46
Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element. ( 9414313 )
1998
47
Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome. ( 9596665 )
1998
48
Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA. ( 9226182 )
1997
49
Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene. ( 9292547 )
1997
50
["Hyperferritinemia-cataract syndrome." Description of a new hereditary disease, from anamnesis to molecular diagnosis]. ( 9417535 )
1997

Variations for Hyperferritinemia-Cataract Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Hyperferritinemia-Cataract Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 FTL p.Thr30Ile VAR_070948 rs397514540

ClinVar genetic disease variations for Hyperferritinemia-Cataract Syndrome:

6 (show all 12)
id 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.-159G> C single nucleotide variant Pathogenic rs398124634 GRCh37 Chromosome 19, 49468606: 49468606
3 FTL NM_000146.3(FTL): c.-168G> A single nucleotide variant Pathogenic rs398124635 GRCh37 Chromosome 19, 49468597: 49468597
4 FTL NM_000146.3(FTL): c.-190_-162del29 deletion Pathogenic GRCh37 Chromosome 19, 49468575: 49468603
5 FTL NM_000146.3(FTL): c.-168G> T single nucleotide variant Pathogenic rs398124635 GRCh37 Chromosome 19, 49468597: 49468597
6 FTL NM_000146.3(FTL): c.-161C> T single nucleotide variant Pathogenic rs398124636 GRCh37 Chromosome 19, 49468604: 49468604
7 FTL NM_000146.3(FTL): c.-164C> A single nucleotide variant Pathogenic rs398124637 GRCh37 Chromosome 19, 49468601: 49468601
8 FTL NM_000146.3(FTL): c.-149G> C single nucleotide variant Pathogenic rs398124638 GRCh37 Chromosome 19, 49468616: 49468616
9 FTL NM_000146.3(FTL): c.-178_-173delTCTGTC deletion Pathogenic rs398124639 GRCh37 Chromosome 19, 49468587: 49468592
10 FTL NM_000146.3(FTL): c.-168G> C single nucleotide variant Pathogenic rs398124635 GRCh37 Chromosome 19, 49468597: 49468597
11 FTL NM_000146.3(FTL): c.89C> T (p.Thr30Ile) single nucleotide variant Pathogenic rs397514540 GRCh37 Chromosome 19, 49468853: 49468853
12 FTL NM_000146.3(FTL): c.-164C> T single nucleotide variant Pathogenic rs398124637 GRCh37 Chromosome 19, 49468601: 49468601

Expression for Hyperferritinemia-Cataract Syndrome

Search GEO for disease gene expression data for Hyperferritinemia-Cataract Syndrome.

Pathways for Hyperferritinemia-Cataract Syndrome

Pathways related to Hyperferritinemia-Cataract Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.96 FTL TF
2 10.84 TF WNT2
3 10.56 FTL TF
4 9.88 ACO1 IREB2 TF

GO Terms for Hyperferritinemia-Cataract Syndrome

Cellular components related to Hyperferritinemia-Cataract Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 basal part of cell GO:0045178 8.96 HFE TF
2 HFE-transferrin receptor complex GO:1990712 8.62 HFE TF

Biological processes related to Hyperferritinemia-Cataract Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 post-embryonic development GO:0009791 9.46 ACO1 IREB2
2 acute-phase response GO:0006953 9.43 CRP HFE
3 transferrin transport GO:0033572 9.4 HFE TF
4 positive regulation of receptor-mediated endocytosis GO:0048260 9.37 HFE TF
5 iron ion transport GO:0006826 9.33 FTL IREB2 TF
6 intestinal absorption GO:0050892 9.32 ACO1 IREB2
7 cellular response to iron ion GO:0071281 9.26 HFE TF
8 iron ion homeostasis GO:0055072 9.26 FTL HFE IREB2 TF
9 cellular iron ion homeostasis GO:0006879 9.02 ACO1 FTL HFE IREB2 TF

Molecular functions related to Hyperferritinemia-Cataract Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 iron-sulfur cluster binding GO:0051536 9.32 ACO1 IREB2
2 4 iron, 4 sulfur cluster binding GO:0051539 9.26 ACO1 IREB2
3 ferric iron binding GO:0008199 9.16 FTL TF
4 transferrin receptor binding GO:1990459 8.96 HFE TF
5 iron-responsive element binding GO:0030350 8.62 ACO1 IREB2

Sources for Hyperferritinemia-Cataract Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....