FTH1-related iron overload

General Information (adopted from Orphanet):

Synonyms, Signs: IRON OVERLOAD, AUTOSOMAL DOMINANT
HFE5
FTH1-associated iron overload
Number of Symptoms 11
OrphanetNr: 247790
OMIM Id: 615517
ICD-10: E83.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of iron metabolism and transport
 -Rare genetic disease
Metabolic liver disease
 -Rare genetic disease
 -Rare hepatic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003281) Increased serum ferritin 32 / 7739
2
 (OMIM) Elevated serum iron 1 / 7739
3
 (OMIM) Maximal deposition of iron in Rappaport zones 1 and 2, with relative sparing of zone 3 1 / 7739
4
 (OMIM) Heavy iron deposition in most hepatocytes 1 / 7739
5
 (OMIM) Iron deposition in macrophages 1 / 7739
6
 (OMIM) Low signal intensity on T1- and T2-weighted abdominal MRI 1 / 7739
7
 (OMIM) Elevated total iron-binding capacity 1 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
 (OMIM) Elevated serum transferrin saturation 1 / 7739
10
 (OMIM) Iron deposition in some Kupffer cells 1 / 7739
11
 (OMIM) No abnormalities 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kato et al. (2001) studied a Japanese family segregating autosomal dominant iron overload. The proband was a 56-year-old woman who, during evaluation for early gastric cancer, was found to have low signal intensity of liver, heart, and bone ...
Molecular genetics OMIM In 3 affected members of a Japanese family segregating autosomal dominant hemochromatosis, who were negative for hemochromatosis-associated mutations in the HFE (613609) and TFR2 (604720) genes, Kato et al. (2001) identified a heterozygous mutation in the FTH1 gene ...