Hemochromatosis, type 5

General Information (adopted from Orphanet):

Synonyms, Signs: HFE5
Iron overload, autosomal dominant
Number of Symptoms 4
OrphanetNr:
OMIM Id: 615517
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family - PMID: 11389486 [IBIS]
Inheritance: Autosomal dominant
- PMID: 11389486 [IBIS]
Age of onset: Adult
- PMID: 11389486 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Comment:

Hemochromatosis type 5 is caused by heterozygous mutation in the FTH1 gene (OMIM).

Symptom Information: Sort by abundance 

1
 (HPO:0012465) Elevated hepatic iron concentration 11389486 IBIS 8 / 7739
2
 (HPO:0012463) Elevated transferrin saturation 11389486 IBIS 10 / 7739
3
 (HPO:0003281) Increased serum ferritin 11389486 IBIS 32 / 7739
4
 (HPO:0003452) Increased serum iron 11389486 IBIS 5 / 7739

Associated genes:

FTH1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: