Hereditary hyperferritinemia with congenital cataracts

General Information (adopted from Orphanet):

Synonyms, Signs:
HHCS
Hereditary hyperferritinemia-cataract syndrome
Hyperferritinemia, hereditary, with congenital cataracts
Bonneau-Beaumont syndrome
Hyperferritinemia-cataract syndrome
Number of Symptoms 11
OrphanetNr: 163
OMIM Id: 600886
ICD-10: H26.0
UMLs: C1833213
MeSH: C538137
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 64 cases [Orphanet]
Inheritance:
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Metabolic disease with cataract
 -Rare eye disease
 -Rare genetic disease
Syndromic cataract
 -Rare eye disease
 -Rare genetic disease

Comment:

Hyperferritinemia-cataract syndrome is caused by heterozygous mutation in the iron-responsive element (IRE) in the 5-prime noncoding region of the ferritin light chain gene (FTL).

Symptom Information: Sort by abundance 

1
(HPO:0010693) Pulverulent cataract 6 / 7739
2
(HPO:0000518) Cataract Very frequent [Orphanet] 12730114 IBIS 454 / 7739
3
(HPO:0008024) Congenital nuclear cataract 5 / 7739
4
(HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
5
(HPO:0003281) Increased serum ferritin 12730114 IBIS 32 / 7739
6
(OMIM) Normal red cell counts 1 / 7739
7
(OMIM) Normal serum iron 1 / 7739
8
(OMIM) Normal transferrin saturation 2 / 7739
9
(OMIM) 'Sunflower' cataract (in some patients) 1 / 7739
10
(OMIM) Serum ferritin hyperglycosylation 1 / 7739
11
(OMIM) Elevated ferritin L subunit 1 / 7739

Associated genes:

FTL

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Girelli et al. (1995) studied 2 Italian families in which a combination of congenital nuclear cataract and elevated serum ferritin not related to iron overload was transmitted as an autosomal dominant trait. Affected individuals had normal serum iron and ...
Genotype-Phenotype Correlations OMIM In 7 kindreds from the United Kingdom with hyperferritinemia-cataract syndrome containing 49 individuals with premature cataract, Lachlan et al. (2004) found that the severity of the clinical phenotype was variable both within and between kindreds and showed no clear ...
Molecular genetics OMIM In affected members of the family reported by Bonneau et al. (1995), Beaumont et al. (1995) identified a point mutation in the IRE in the 5-prime noncoding region of the ferritin light chain gene (134790.0001). The synthesis of ferritin, ...